3400167 |
c.108C>T |
p.A36A |
Chr.1:
197917958-197917958
on Build GRCh38
|
2125764 |
c.36G>A |
p.S12S |
Chr.1:
197917859-197917859
on Build GRCh38
|
4614689 |
c.48delC |
p.P18fs*76 |
Chr.1:
197917871-197917871
on Build GRCh38
|
4557461 |
c.72G>A |
p.G24G |
Chr.1:
197917895-197917895
on Build GRCh38
|
301274 |
c.33G>C |
p.M11I |
Chr.1:
197917883-197917883
on Build GRCh38
|
6700960 |
c.46C>T |
p.R16C |
Chr.1:
197917869-197917869
on Build GRCh38
|
5379084 |
c.43G>A |
p.G15R |
Chr.1:
197917893-197917893
on Build GRCh38
|
1668342 |
c.116G>A |
p.R39H |
Chr.1:
197917939-197917939
on Build GRCh38
|
1213340 |
c.75G>A |
p.M25I |
Chr.1:
197917925-197917925
on Build GRCh38
|
1689551 |
c.122C>T |
p.S41F |
Chr.1:
197917945-197917945
on Build GRCh38
|
5705119 |
c.100A>G |
p.M34V |
Chr.1:
197917923-197917923
on Build GRCh38
|
5352784 |
c.78G>A |
p.E26E |
Chr.1:
197917928-197917928
on Build GRCh38
|
4512886 |
c.91C>T |
p.Q31* |
Chr.1:
197917914-197917914
on Build GRCh38
|
6700958 |
c.55G>A |
p.A19T |
Chr.1:
197917878-197917878
on Build GRCh38
|
1560353 |
c.149G>A |
p.G50D |
Chr.1:
197917972-197917972
on Build GRCh38
|
6700954 |
c.47_48insC |
p.A19fs*26 |
Chr.1:
197917870-197917871
on Build GRCh38
|
5052943 |
c.88C>T |
p.R30C |
Chr.1:
197917938-197917938
on Build GRCh38
|
901810 |
c.63C>T |
p.I21I |
Chr.1:
197917913-197917913
on Build GRCh38
|
4930407 |
c.109C>T |
p.R37C |
Chr.1:
197917959-197917959
on Build GRCh38
|
3400166 |
c.135C>T |
p.A45A |
Chr.1:
197917958-197917958
on Build GRCh38
|
301273 |
c.60G>C |
p.M20I |
Chr.1:
197917883-197917883
on Build GRCh38
|
3943254 |
c.86A>C |
p.E29A |
Chr.1:
197917936-197917936
on Build GRCh38
|
5379083 |
c.70G>A |
p.G24R |
Chr.1:
197917893-197917893
on Build GRCh38
|
6200006 |
c.46A>T |
p.I16F |
Chr.1:
197917896-197917896
on Build GRCh38
|
4795615 |
c.29-4C>T |
p.? |
Chr.1:
197917875-197917875
on Build GRCh38
|
2125770 |
c.67G>T |
p.G23C |
Chr.1:
197917917-197917917
on Build GRCh38
|
4614690 |
c.29-8delC |
p.? |
Chr.1:
197917871-197917871
on Build GRCh38
|
5352783 |
c.105G>A |
p.E35E |
Chr.1:
197917928-197917928
on Build GRCh38
|
1213339 |
c.102G>A |
p.M34I |
Chr.1:
197917925-197917925
on Build GRCh38
|
1689552 |
c.95C>T |
p.S32F |
Chr.1:
197917945-197917945
on Build GRCh38
|
901809 |
c.90C>T |
p.I30I |
Chr.1:
197917913-197917913
on Build GRCh38
|
119692 |
c.95G>T |
p.G32V |
Chr.1:
197917918-197917918
on Build GRCh38
|
5052942 |
c.115C>T |
p.R39C |
Chr.1:
197917938-197917938
on Build GRCh38
|
1668343 |
c.89G>A |
p.R30H |
Chr.1:
197917939-197917939
on Build GRCh38
|
75234 |
c.118A>G |
p.R40G |
Chr.1:
197917941-197917941
on Build GRCh38
|
4557462 |
c.45G>A |
p.G15G |
Chr.1:
197917895-197917895
on Build GRCh38
|
4512887 |
c.64C>T |
p.Q22* |
Chr.1:
197917914-197917914
on Build GRCh38
|
1560354 |
c.122G>A |
p.G41D |
Chr.1:
197917972-197917972
on Build GRCh38
|
4930406 |
c.136C>T |
p.R46C |
Chr.1:
197917959-197917959
on Build GRCh38
|
6700959 |
c.29-1G>A |
p.? |
Chr.1:
197917878-197917878
on Build GRCh38
|
5705120 |
c.73A>G |
p.M25V |
Chr.1:
197917923-197917923
on Build GRCh38
|
6700961 |
c.29-10C>T |
p.? |
Chr.1:
197917869-197917869
on Build GRCh38
|
3943253 |
c.113A>C |
p.E38A |
Chr.1:
197917936-197917936
on Build GRCh38
|
6700955 |
c.29-9_29-8insC |
p.? |
Chr.1:
197917870-197917871
on Build GRCh38
|
2125769 |
c.94G>T |
p.G32C |
Chr.1:
197917917-197917917
on Build GRCh38
|
6123795 |
c.45C>T |
p.F15F |
Chr.1:
197917868-197917868
on Build GRCh38
|
4795614 |
c.52C>T |
p.P18S |
Chr.1:
197917875-197917875
on Build GRCh38
|
6200005 |
c.73A>T |
p.I25F |
Chr.1:
197917896-197917896
on Build GRCh38
|