Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119402370A= | CA1396543787 | ARHGAP31 | c.1618A= (p.Lys540=) c.1525A= (p.Lys509=) c.1558A= (p.Lys520=) c.1126A= (p.Lys376=) | |
3 | g.119402370A>C | CA354040550 | ARHGAP31 | c.1618A>C (p.Lys540Gln) c.1525A>C (p.Lys509Gln) c.1558A>C (p.Lys520Gln) c.1126A>C (p.Lys376Gln) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119402370A>G | CA2553855 | ARHGAP31 | c.1618A>G (p.Lys540Glu) c.1525A>G (p.Lys509Glu) c.1558A>G (p.Lys520Glu) c.1126A>G (p.Lys376Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119402370A>T | CA354040551 | ARHGAP31 | c.1618A>T (p.Lys540Ter) c.1525A>T (p.Lys509Ter) c.1558A>T (p.Lys520Ter) c.1126A>T (p.Lys376Ter) | |
3 | g.119402370_119402372del | CA2667109881 | ARHGAP31 | c.1618_1620del (p.Lys540del) c.1525_1527del (p.Lys509del) c.1558_1560del (p.Lys520del) c.1126_1128del (p.Lys376del) | gnomAD v4 |
3 | g.119402371A= | CA1396543788 | ARHGAP31 | c.1619A= (p.Lys540=) c.1526A= (p.Lys509=) c.1559A= (p.Lys520=) c.1127A= (p.Lys376=) | |
3 | g.119402371A>C | CA354040554 | ARHGAP31 | c.1619A>C (p.Lys540Thr) c.1526A>C (p.Lys509Thr) c.1559A>C (p.Lys520Thr) c.1127A>C (p.Lys376Thr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119402371A>G | CA354040557 | ARHGAP31 | c.1619A>G (p.Lys540Arg) c.1526A>G (p.Lys509Arg) c.1559A>G (p.Lys520Arg) c.1127A>G (p.Lys376Arg) | |
3 | g.119402371A>T | CA354040559 | ARHGAP31 | c.1619A>T (p.Lys540Ile) c.1526A>T (p.Lys509Ile) c.1559A>T (p.Lys520Ile) c.1127A>T (p.Lys376Ile) | |
3 | g.119402372A>C | CA354040564 | ARHGAP31 | c.1620A>C (p.Lys540Asn) c.1527A>C (p.Lys509Asn) c.1560A>C (p.Lys520Asn) c.1128A>C (p.Lys376Asn) | gnomAD v4 |
3 | g.119402372A>G | CA435209476 | ARHGAP31 | c.1620A>G (p.Lys540=) c.1527A>G (p.Lys509=) c.1560A>G (p.Lys520=) c.1128A>G (p.Lys376=) | |
3 | g.119402372A>T | CA354040566 | ARHGAP31 | c.1620A>T (p.Lys540Asn) c.1527A>T (p.Lys509Asn) c.1560A>T (p.Lys520Asn) c.1128A>T (p.Lys376Asn) | |
3 | g.119402373C>A | CA354040590 | ARHGAP31 | c.1621C>A (p.Pro541Thr) c.1528C>A (p.Pro510Thr) c.1561C>A (p.Pro521Thr) c.1129C>A (p.Pro377Thr) | gnomAD v4 |
3 | g.119402373C>G | CA354040588 | ARHGAP31 | c.1621C>G (p.Pro541Ala) c.1528C>G (p.Pro510Ala) c.1561C>G (p.Pro521Ala) c.1129C>G (p.Pro377Ala) | |
3 | g.119402373C>T | CA354040584 | ARHGAP31 | c.1621C>T (p.Pro541Ser) c.1528C>T (p.Pro510Ser) c.1561C>T (p.Pro521Ser) c.1129C>T (p.Pro377Ser) | gnomAD v4 |
3 | g.119402374C>A | CA354040595 | ARHGAP31 | c.1622C>A (p.Pro541Gln) c.1529C>A (p.Pro510Gln) c.1562C>A (p.Pro521Gln) c.1130C>A (p.Pro377Gln) | |
3 | g.119402374C= | CA1396543789 | ARHGAP31 | c.1622C= (p.Pro541=) c.1529C= (p.Pro510=) c.1562C= (p.Pro521=) c.1130C= (p.Pro377=) | |
3 | g.119402374C>G | CA354040600 | ARHGAP31 | c.1622C>G (p.Pro541Arg) c.1529C>G (p.Pro510Arg) c.1562C>G (p.Pro521Arg) c.1130C>G (p.Pro377Arg) | |
3 | g.119402374C>T | CA354040598 | ARHGAP31 | c.1622C>T (p.Pro541Leu) c.1529C>T (p.Pro510Leu) c.1562C>T (p.Pro521Leu) c.1130C>T (p.Pro377Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119402375G>A | CA435209480 | ARHGAP31 | c.1623G>A (p.Pro541=) c.1530G>A (p.Pro510=) c.1563G>A (p.Pro521=) c.1131G>A (p.Pro377=) | |
3 | g.119402375G>C | CA435209481 | ARHGAP31 | c.1623G>C (p.Pro541=) c.1530G>C (p.Pro510=) c.1563G>C (p.Pro521=) c.1131G>C (p.Pro377=) | |
3 | g.119402375G= | CA1396543790 | ARHGAP31 | c.1623G= (p.Pro541=) c.1530G= (p.Pro510=) c.1563G= (p.Pro521=) c.1131G= (p.Pro377=) | |
3 | g.119402375G>T | CA2553856 | ARHGAP31 | c.1623G>T (p.Pro541=) c.1530G>T (p.Pro510=) c.1563G>T (p.Pro521=) c.1131G>T (p.Pro377=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119402376C>A | CA354040611 | ARHGAP31 | c.1624C>A (p.Leu542Met) c.1531C>A (p.Leu511Met) c.1564C>A (p.Leu522Met) c.1132C>A (p.Leu378Met) | |
3 | g.119402376C>G | CA354040608 | ARHGAP31 | c.1624C>G (p.Leu542Val) c.1531C>G (p.Leu511Val) c.1564C>G (p.Leu522Val) c.1132C>G (p.Leu378Val) | |
3 | g.119402376C>T | CA435209484 | ARHGAP31 | c.1624C>T (p.Leu542=) c.1531C>T (p.Leu511=) c.1564C>T (p.Leu522=) c.1132C>T (p.Leu378=) | gnomAD v4 |
3 | g.119402377T>A | CA354040621 | ARHGAP31 | c.1625T>A (p.Leu542Gln) c.1532T>A (p.Leu511Gln) c.1565T>A (p.Leu522Gln) c.1133T>A (p.Leu378Gln) | |
3 | g.119402377T>C | CA354040615 | ARHGAP31 | c.1625T>C (p.Leu542Pro) c.1532T>C (p.Leu511Pro) c.1565T>C (p.Leu522Pro) c.1133T>C (p.Leu378Pro) | |
3 | g.119402377T>G | CA354040618 | ARHGAP31 | c.1625T>G (p.Leu542Arg) c.1532T>G (p.Leu511Arg) c.1565T>G (p.Leu522Arg) c.1133T>G (p.Leu378Arg) | |
3 | g.119402378G>A | CA435209486 | ARHGAP31 | c.1626G>A (p.Leu542=) c.1533G>A (p.Leu511=) c.1566G>A (p.Leu522=) c.1134G>A (p.Leu378=) | |
3 | g.119402378G>C | CA435209487 | ARHGAP31 | c.1626G>C (p.Leu542=) c.1533G>C (p.Leu511=) c.1566G>C (p.Leu522=) c.1134G>C (p.Leu378=) | |
3 | g.119402378G>T | CA435209488 | ARHGAP31 | c.1626G>T (p.Leu542=) c.1533G>T (p.Leu511=) c.1566G>T (p.Leu522=) c.1134G>T (p.Leu378=) | |
3 | g.119402379G>A | CA354040627 | ARHGAP31 | c.1627G>A (p.Gly543Arg) c.1534G>A (p.Gly512Arg) c.1567G>A (p.Gly523Arg) c.1135G>A (p.Gly379Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119402379G>C | CA354040632 | ARHGAP31 | c.1627G>C (p.Gly543Arg) c.1534G>C (p.Gly512Arg) c.1567G>C (p.Gly523Arg) c.1135G>C (p.Gly379Arg) | |
3 | g.119402379G= | CA1396543791 | ARHGAP31 | c.1627G= (p.Gly543=) c.1534G= (p.Gly512=) c.1567G= (p.Gly523=) c.1135G= (p.Gly379=) | |
3 | g.119402379G>T | CA354040637 | ARHGAP31 | c.1627G>T (p.Gly543Ter) c.1534G>T (p.Gly512Ter) c.1567G>T (p.Gly523Ter) c.1135G>T (p.Gly379Ter) | |
3 | g.119402380G>A | CA81689874 | ARHGAP31 | c.1628G>A (p.Gly543Glu) c.1535G>A (p.Gly512Glu) c.1568G>A (p.Gly523Glu) c.1136G>A (p.Gly379Glu) | dbSNP |
3 | g.119402380G>C | CA354040644 | ARHGAP31 | c.1628G>C (p.Gly543Ala) c.1535G>C (p.Gly512Ala) c.1568G>C (p.Gly523Ala) c.1136G>C (p.Gly379Ala) | |
3 | g.119402380G= | CA1396543792 | ARHGAP31 | c.1628G= (p.Gly543=) c.1535G= (p.Gly512=) c.1568G= (p.Gly523=) c.1136G= (p.Gly379=) | |
3 | g.119402380G>T | CA354040649 | ARHGAP31 | c.1628G>T (p.Gly543Val) c.1535G>T (p.Gly512Val) c.1568G>T (p.Gly523Val) c.1136G>T (p.Gly379Val) | dbSNP |
3 | g.119402381A= | CA1396543793 | ARHGAP31 | c.1629A= (p.Gly543=) c.1536A= (p.Gly512=) c.1569A= (p.Gly523=) c.1137A= (p.Gly379=) | |
3 | g.119402381A>C | CA435209492 | ARHGAP31 | c.1629A>C (p.Gly543=) c.1536A>C (p.Gly512=) c.1569A>C (p.Gly523=) c.1137A>C (p.Gly379=) | |
3 | g.119402381A>G | CA2553857 | ARHGAP31 | c.1629A>G (p.Gly543=) c.1536A>G (p.Gly512=) c.1569A>G (p.Gly523=) c.1137A>G (p.Gly379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119402381A>T | CA435209493 | ARHGAP31 | c.1629A>T (p.Gly543=) c.1536A>T (p.Gly512=) c.1569A>T (p.Gly523=) c.1137A>T (p.Gly379=) | |
3 | g.119402382G>A | CA354040654 | ARHGAP31 | c.1630G>A (p.Ala544Thr) c.1537G>A (p.Ala513Thr) c.1570G>A (p.Ala524Thr) c.1138G>A (p.Ala380Thr) | gnomAD v4 |
3 | g.119402382G>C | CA354040657 | ARHGAP31 | c.1630G>C (p.Ala544Pro) c.1537G>C (p.Ala513Pro) c.1570G>C (p.Ala524Pro) c.1138G>C (p.Ala380Pro) | |
3 | g.119402382G>T | CA354040663 | ARHGAP31 | c.1630G>T (p.Ala544Ser) c.1537G>T (p.Ala513Ser) c.1570G>T (p.Ala524Ser) c.1138G>T (p.Ala380Ser) | gnomAD v4 |
3 | g.119402383C>A | CA354040671 | ARHGAP31 | c.1631C>A (p.Ala544Asp) c.1538C>A (p.Ala513Asp) c.1571C>A (p.Ala524Asp) c.1139C>A (p.Ala380Asp) | |
3 | g.119402383C>G | CA354040667 | ARHGAP31 | c.1631C>G (p.Ala544Gly) c.1538C>G (p.Ala513Gly) c.1571C>G (p.Ala524Gly) c.1139C>G (p.Ala380Gly) | |
3 | g.119402383C>T | CA354040670 | ARHGAP31 | c.1631C>T (p.Ala544Val) c.1538C>T (p.Ala513Val) c.1571C>T (p.Ala524Val) c.1139C>T (p.Ala380Val) |