7114593 |
c.1086C>T |
p.I362I |
Chr.1:
168085693-168085693
on Build GRCh38
|
7264257 |
c.1264G>A |
p.G422R |
Chr.1:
168085623-168085623
on Build GRCh38
|
4167656 |
c.1490G>A |
p.G497D |
Chr.1:
168085631-168085631
on Build GRCh38
|
7114590 |
c.1488C>T |
p.I496I |
Chr.1:
168085693-168085693
on Build GRCh38
|
4607417 |
c.983-1G>T |
p.? |
Chr.1:
168085797-168085797
on Build GRCh38
|
4688068 |
c.1534C>T |
p.R512W |
Chr.1:
168085647-168085647
on Build GRCh38
|
4024850 |
c.1513A>G |
p.S505G |
Chr.1:
168085608-168085608
on Build GRCh38
|
4528428 |
c.1134G>A |
p.R378R |
Chr.1:
168085645-168085645
on Build GRCh38
|
4607416 |
c.1091-1G>T |
p.? |
Chr.1:
168085797-168085797
on Build GRCh38
|
4024854 |
c.1075G>A |
p.E359K |
Chr.1:
168085704-168085704
on Build GRCh38
|
4787025 |
c.1395G>T |
p.K465N |
Chr.1:
168085786-168085786
on Build GRCh38
|
4770507 |
c.988G>A |
p.A330T |
Chr.1:
168085791-168085791
on Build GRCh38
|
6456990 |
c.1470T>C |
p.I490I |
Chr.1:
168085711-168085711
on Build GRCh38
|
7423234 |
c.1572C>T |
p.G524G |
Chr.1:
168085609-168085609
on Build GRCh38
|
3477883 |
c.1487G>A |
p.G496E |
Chr.1:
168085634-168085634
on Build GRCh38
|
6122326 |
c.1102G>A |
p.E368K |
Chr.1:
168085677-168085677
on Build GRCh38
|
4688074 |
c.1127C>T |
p.T376I |
Chr.1:
168085652-168085652
on Build GRCh38
|
4770505 |
c.1390G>A |
p.A464T |
Chr.1:
168085791-168085791
on Build GRCh38
|
4917818 |
c.1165G>T |
p.A389S |
Chr.1:
168085722-168085722
on Build GRCh38
|
7264255 |
c.1558G>A |
p.G520R |
Chr.1:
168085623-168085623
on Build GRCh38
|
4688066 |
c.1133G>A |
p.R378Q |
Chr.1:
168085646-168085646
on Build GRCh38
|
6122324 |
c.1504G>A |
p.E502K |
Chr.1:
168085677-168085677
on Build GRCh38
|
4688073 |
c.1235C>T |
p.T412I |
Chr.1:
168085652-168085652
on Build GRCh38
|
4167657 |
c.1550G>A |
p.G517D |
Chr.1:
168085631-168085631
on Build GRCh38
|
4787027 |
c.993G>T |
p.K331N |
Chr.1:
168085786-168085786
on Build GRCh38
|
4688065 |
c.1241G>A |
p.R414Q |
Chr.1:
168085646-168085646
on Build GRCh38
|
4688071 |
c.1469C>T |
p.T490I |
Chr.1:
168085652-168085652
on Build GRCh38
|
5378340 |
c.1144G>A |
p.D382N |
Chr.1:
168085743-168085743
on Build GRCh38
|
4167658 |
c.1148G>A |
p.G383D |
Chr.1:
168085631-168085631
on Build GRCh38
|
2186023 |
c.1550_1551insG |
p.G518fs*>33 |
Chr.1:
168085630-168085631
on Build GRCh38
|
4688063 |
c.1475G>A |
p.R492Q |
Chr.1:
168085646-168085646
on Build GRCh38
|
4917819 |
c.1057G>T |
p.A353S |
Chr.1:
168085722-168085722
on Build GRCh38
|
4024853 |
c.1477G>A |
p.E493K |
Chr.1:
168085704-168085704
on Build GRCh38
|
1336034 |
c.1335G>T |
p.K445N |
Chr.1:
168085786-168085786
on Build GRCh38
|
3477884 |
c.1547G>A |
p.G516E |
Chr.1:
168085634-168085634
on Build GRCh38
|
4917816 |
c.1399G>T |
p.A467S |
Chr.1:
168085722-168085722
on Build GRCh38
|
7114591 |
c.1428C>T |
p.I476I |
Chr.1:
168085693-168085693
on Build GRCh38
|
4334932 |
c.1148_1149insG |
p.G384fs*>33 |
Chr.1:
168085630-168085631
on Build GRCh38
|
4892097 |
c.1253G>A |
p.G418E |
Chr.1:
168085634-168085634
on Build GRCh38
|
6673908 |
c.1257C>T |
p.G419G |
Chr.1:
168085630-168085630
on Build GRCh38
|
4528427 |
c.1536G>A |
p.R512R |
Chr.1:
168085645-168085645
on Build GRCh38
|
4860353 |
c.1424T>C |
p.V475A |
Chr.1:
168085757-168085757
on Build GRCh38
|
4688072 |
c.1529C>T |
p.T510I |
Chr.1:
168085652-168085652
on Build GRCh38
|
5017127 |
c.1439G>T |
p.G480V |
Chr.1:
168085682-168085682
on Build GRCh38
|
257049 |
c.1417G>A |
p.E473K |
Chr.1:
168085704-168085704
on Build GRCh38
|
7423235 |
c.1512C>T |
p.G504G |
Chr.1:
168085609-168085609
on Build GRCh38
|
6456989 |
c.1410T>C |
p.I470I |
Chr.1:
168085711-168085711
on Build GRCh38
|
4688064 |
c.1535G>A |
p.R512Q |
Chr.1:
168085646-168085646
on Build GRCh38
|
4917817 |
c.1459G>T |
p.A487S |
Chr.1:
168085722-168085722
on Build GRCh38
|
4787026 |
c.1101G>T |
p.K367N |
Chr.1:
168085786-168085786
on Build GRCh38
|
7264256 |
c.1498G>A |
p.G500R |
Chr.1:
168085623-168085623
on Build GRCh38
|
4906515 |
c.1279A>G |
p.S427G |
Chr.1:
168085608-168085608
on Build GRCh38
|
4607415 |
c.1385-1G>T |
p.? |
Chr.1:
168085797-168085797
on Build GRCh38
|
6122323 |
c.1444G>A |
p.E482K |
Chr.1:
168085677-168085677
on Build GRCh38
|
7114592 |
c.1194C>T |
p.I398I |
Chr.1:
168085693-168085693
on Build GRCh38
|
4860354 |
c.1130T>C |
p.V377A |
Chr.1:
168085757-168085757
on Build GRCh38
|
6456991 |
c.1176T>C |
p.I392I |
Chr.1:
168085711-168085711
on Build GRCh38
|
5378339 |
c.1438G>A |
p.D480N |
Chr.1:
168085743-168085743
on Build GRCh38
|
4611986 |
c.1256delG |
p.G419fs*13 |
Chr.1:
168085631-168085631
on Build GRCh38
|
5017128 |
c.1499G>T |
p.G500V |
Chr.1:
168085682-168085682
on Build GRCh38
|
4024852 |
c.1171A>G |
p.S391G |
Chr.1:
168085608-168085608
on Build GRCh38
|
7423237 |
c.1170C>T |
p.G390G |
Chr.1:
168085609-168085609
on Build GRCh38
|
4688070 |
c.1132C>T |
p.R378W |
Chr.1:
168085647-168085647
on Build GRCh38
|
4892098 |
c.1145G>A |
p.G382E |
Chr.1:
168085634-168085634
on Build GRCh38
|
4528426 |
c.1476G>A |
p.R492R |
Chr.1:
168085645-168085645
on Build GRCh38
|
6122325 |
c.1210G>A |
p.E404K |
Chr.1:
168085677-168085677
on Build GRCh38
|
5378338 |
c.1378G>A |
p.D460N |
Chr.1:
168085743-168085743
on Build GRCh38
|
7264258 |
c.1156G>A |
p.G386R |
Chr.1:
168085623-168085623
on Build GRCh38
|
7423236 |
c.1278C>T |
p.G426G |
Chr.1:
168085609-168085609
on Build GRCh38
|
4688069 |
c.1240C>T |
p.R414W |
Chr.1:
168085647-168085647
on Build GRCh38
|
677305 |
c.1364T>C |
p.V455A |
Chr.1:
168085757-168085757
on Build GRCh38
|
4688067 |
c.1474C>T |
p.R492W |
Chr.1:
168085647-168085647
on Build GRCh38
|
5202328 |
c.1256_1257insG |
p.G420fs*>33 |
Chr.1:
168085630-168085631
on Build GRCh38
|
5017129 |
c.1205G>T |
p.G402V |
Chr.1:
168085682-168085682
on Build GRCh38
|
6673906 |
c.1491C>T |
p.G497G |
Chr.1:
168085630-168085630
on Build GRCh38
|
6456992 |
c.1068T>C |
p.I356I |
Chr.1:
168085711-168085711
on Build GRCh38
|
2186024 |
c.1550delG |
p.G517fs*13 |
Chr.1:
168085631-168085631
on Build GRCh38
|
4607414 |
c.1325-1G>T |
p.? |
Chr.1:
168085797-168085797
on Build GRCh38
|
4024851 |
c.1573A>G |
p.S525G |
Chr.1:
168085608-168085608
on Build GRCh38
|
2186022 |
c.1490_1491insG |
p.G498fs*>33 |
Chr.1:
168085630-168085631
on Build GRCh38
|
4334933 |
c.1148delG |
p.G383fs*13 |
Chr.1:
168085631-168085631
on Build GRCh38
|
4860355 |
c.1022T>C |
p.V341A |
Chr.1:
168085757-168085757
on Build GRCh38
|
6673909 |
c.1149C>T |
p.G383G |
Chr.1:
168085630-168085630
on Build GRCh38
|
5378341 |
c.1036G>A |
p.D346N |
Chr.1:
168085743-168085743
on Build GRCh38
|
4770506 |
c.1096G>A |
p.A366T |
Chr.1:
168085791-168085791
on Build GRCh38
|
207659 |
c.1490delG |
p.G497fs*13 |
Chr.1:
168085631-168085631
on Build GRCh38
|
5017130 |
c.1097G>T |
p.G366V |
Chr.1:
168085682-168085682
on Build GRCh38
|
4770504 |
c.1330G>A |
p.A444T |
Chr.1:
168085791-168085791
on Build GRCh38
|
6673907 |
c.1551C>T |
p.G517G |
Chr.1:
168085630-168085630
on Build GRCh38
|
4688075 |
c.1183G>A |
p.E395K |
Chr.1:
168085704-168085704
on Build GRCh38
|