4961784 |
c.144C>T |
p.H48H |
Chr.21:
42103979-42103979
on Build GRCh38
|
1682006 |
c.1214C>A |
p.P405H |
Chr.21:
42103998-42103998
on Build GRCh38
|
5745466 |
c.1160A>G |
p.Q387R |
Chr.21:
42103944-42103944
on Build GRCh38
|
3405414 |
c.1436G>C |
p.G479A |
Chr.21:
42104004-42104004
on Build GRCh38
|
1714026 |
c.1423G>A |
p.G475R |
Chr.21:
42103991-42103991
on Build GRCh38
|
5290116 |
c.1380G>A |
p.A460A |
Chr.21:
42103948-42103948
on Build GRCh38
|
3912184 |
c.174C>T |
p.S58S |
Chr.21:
42103949-42103949
on Build GRCh38
|
6615632 |
c.1410C>T |
p.T470T |
Chr.21:
42103978-42103978
on Build GRCh38
|
6018075 |
c.1518A>G |
p.Q506Q |
Chr.21:
42104086-42104086
on Build GRCh38
|
3912179 |
c.1131G>A |
p.G377G |
Chr.21:
42103915-42103915
on Build GRCh38
|
5696597 |
c.138C>T |
p.V46V |
Chr.21:
42103985-42103985
on Build GRCh38
|
3912182 |
c.1381G>A |
p.G461R |
Chr.21:
42103949-42103949
on Build GRCh38
|
1030984 |
c.1120T>C |
p.Y374H |
Chr.21:
42103904-42103904
on Build GRCh38
|
7237746 |
c.1198C>G |
p.Q400E |
Chr.21:
42103982-42103982
on Build GRCh38
|
6884771 |
c.1466C>T |
p.P489L |
Chr.21:
42104034-42104034
on Build GRCh38
|
3841961 |
c.1279G>A |
p.D427N |
Chr.21:
42104063-42104063
on Build GRCh38
|
2819393 |
c.1267G>A |
p.V423M |
Chr.21:
42104051-42104051
on Build GRCh38
|
5290117 |
c.1164G>A |
p.A388A |
Chr.21:
42103948-42103948
on Build GRCh38
|
5898029 |
c.1499G>A |
p.R500Q |
Chr.21:
42104067-42104067
on Build GRCh38
|
1682008 |
c.125G>T |
p.G42V |
Chr.21:
42103998-42103998
on Build GRCh38
|
461346 |
c.1282C>T |
p.R428W |
Chr.21:
42104066-42104066
on Build GRCh38
|
3841960 |
c.1495G>A |
p.D499N |
Chr.21:
42104063-42104063
on Build GRCh38
|
1592780 |
c.219A>G |
p.V73V |
Chr.21:
42103904-42103904
on Build GRCh38
|
6018076 |
c.1302A>G |
p.Q434Q |
Chr.21:
42104086-42104086
on Build GRCh38
|
2819392 |
c.1483G>A |
p.V495M |
Chr.21:
42104051-42104051
on Build GRCh38
|
6615629 |
c.1149C>A |
p.I383I |
Chr.21:
42103933-42103933
on Build GRCh38
|
1030983 |
c.1336T>C |
p.Y446H |
Chr.21:
42103904-42103904
on Build GRCh38
|
7237747 |
c.141G>C |
p.L47L |
Chr.21:
42103982-42103982
on Build GRCh38
|
3405417 |
c.119C>G |
p.A40G |
Chr.21:
42104004-42104004
on Build GRCh38
|
7237745 |
c.1414C>G |
p.Q472E |
Chr.21:
42103982-42103982
on Build GRCh38
|
6884773 |
c.89G>A |
p.G30E |
Chr.21:
42104034-42104034
on Build GRCh38
|
6615634 |
c.145G>A |
p.G49S |
Chr.21:
42103978-42103978
on Build GRCh38
|
3405411 |
c.1114G>C |
p.D372H |
Chr.21:
42103898-42103898
on Build GRCh38
|
6816669 |
c.1490A>C |
p.Q497P |
Chr.21:
42104058-42104058
on Build GRCh38
|
5745465 |
c.1376A>G |
p.Q459R |
Chr.21:
42103944-42103944
on Build GRCh38
|
5898032 |
c.1284G>A |
p.R428R |
Chr.21:
42104068-42104068
on Build GRCh38
|
2150595 |
c.216G>A |
p.S72S |
Chr.21:
42103907-42103907
on Build GRCh38
|
3405410 |
c.1330G>C |
p.D444H |
Chr.21:
42103898-42103898
on Build GRCh38
|
6884772 |
c.1250C>T |
p.P417L |
Chr.21:
42104034-42104034
on Build GRCh38
|
6094584 |
c.1411G>T |
p.V471L |
Chr.21:
42103979-42103979
on Build GRCh38
|
6615628 |
c.1365C>A |
p.I455I |
Chr.21:
42103933-42103933
on Build GRCh38
|
1714027 |
c.1207G>A |
p.G403R |
Chr.21:
42103991-42103991
on Build GRCh38
|
5696594 |
c.1417G>A |
p.D473N |
Chr.21:
42103985-42103985
on Build GRCh38
|
3912183 |
c.1165G>A |
p.G389R |
Chr.21:
42103949-42103949
on Build GRCh38
|
3912180 |
c.208C>T |
p.P70S |
Chr.21:
42103915-42103915
on Build GRCh38
|
5696595 |
c.1201G>A |
p.D401N |
Chr.21:
42103985-42103985
on Build GRCh38
|
5745468 |
c.179T>C |
p.L60P |
Chr.21:
42103944-42103944
on Build GRCh38
|
1682005 |
c.1430C>A |
p.P477H |
Chr.21:
42103998-42103998
on Build GRCh38
|
3912178 |
c.1347G>A |
p.G449G |
Chr.21:
42103915-42103915
on Build GRCh38
|
1030986 |
c.1149C>T |
p.I383I |
Chr.21:
42103933-42103933
on Build GRCh38
|
6816670 |
c.1274A>C |
p.Q425P |
Chr.21:
42104058-42104058
on Build GRCh38
|
5290119 |
c.175C>T |
p.R59C |
Chr.21:
42103948-42103948
on Build GRCh38
|
4961781 |
c.1411G>A |
p.V471M |
Chr.21:
42103979-42103979
on Build GRCh38
|
3551047 |
c.1303+2T>A |
p.? |
Chr.21:
42104089-42104089
on Build GRCh38
|
6094585 |
c.1195G>T |
p.V399L |
Chr.21:
42103979-42103979
on Build GRCh38
|
461345 |
c.1498C>T |
p.R500W |
Chr.21:
42104066-42104066
on Build GRCh38
|
1030985 |
c.1365C>T |
p.I455I |
Chr.21:
42103933-42103933
on Build GRCh38
|
1714028 |
c.132C>T |
p.P44P |
Chr.21:
42103991-42103991
on Build GRCh38
|
3551046 |
c.1519+2T>A |
p.? |
Chr.21:
42104089-42104089
on Build GRCh38
|
5898031 |
c.1500G>A |
p.R500R |
Chr.21:
42104068-42104068
on Build GRCh38
|
4961782 |
c.1195G>A |
p.V399M |
Chr.21:
42103979-42103979
on Build GRCh38
|
7236168 |
c.1124G>A |
p.R375Q |
Chr.21:
42103908-42103908
on Build GRCh38
|
3405415 |
c.1220G>C |
p.G407A |
Chr.21:
42104004-42104004
on Build GRCh38
|
1592778 |
c.190G>A |
p.D64N |
Chr.21:
42103933-42103933
on Build GRCh38
|
6094586 |
c.144C>A |
p.H48Q |
Chr.21:
42103979-42103979
on Build GRCh38
|
6615633 |
c.1194C>T |
p.T398T |
Chr.21:
42103978-42103978
on Build GRCh38
|
7236169 |
c.215C>T |
p.S72L |
Chr.21:
42103908-42103908
on Build GRCh38
|
7236167 |
c.1340G>A |
p.R447Q |
Chr.21:
42103908-42103908
on Build GRCh38
|
3405413 |
c.225C>G |
p.V75V |
Chr.21:
42103898-42103898
on Build GRCh38
|
2150593 |
c.1339C>T |
p.R447* |
Chr.21:
42103907-42103907
on Build GRCh38
|
2150594 |
c.1123C>T |
p.R375* |
Chr.21:
42103907-42103907
on Build GRCh38
|
6615630 |
c.190G>T |
p.D64Y |
Chr.21:
42103933-42103933
on Build GRCh38
|
5898030 |
c.1283G>A |
p.R428Q |
Chr.21:
42104067-42104067
on Build GRCh38
|