Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.58273581G>ACA400370276MPOn.787C>T
c.579C>T (n.579C>T)
n.494C>T
c.1454C>T (p.Ser485Leu)
c.1640C>T (p.Ser547Leu)
c.1169C>T (p.Ser390Leu)
c.*3C>T (n.*3C>T)
gnomAD v4
17g.58273581G>CCA400370277MPOn.787C>G
c.579C>G (n.579C>G)
n.494C>G
c.1454C>G (p.Ser485Ter)
c.1640C>G (p.Ser547Ter)
c.1169C>G (p.Ser390Ter)
c.*3C>G (n.*3C>G)
17g.58273581G>TCA400370279MPOn.787C>A
c.579C>A (n.579C>A)
n.494C>A
c.1454C>A (p.Ser485Ter)
c.1640C>A (p.Ser547Ter)
c.1169C>A (p.Ser390Ter)
c.*3C>A (n.*3C>A)
17g.58273582A=CA2267631327MPOn.786T=
c.578T= (n.578T=)
n.493T=
c.1453T= (p.Ser485=)
c.1639T= (p.Ser547=)
c.1168T= (p.Ser390=)
c.*2T= (n.*2T=)
17g.58273582A>CCA400370280MPOn.786T>G
c.578T>G (n.578T>G)
n.493T>G
c.1453T>G (p.Ser485Ala)
c.1639T>G (p.Ser547Ala)
c.1168T>G (p.Ser390Ala)
c.*2T>G (n.*2T>G)
17g.58273582A>GCA400370284MPOn.786T>C
c.578T>C (n.578T>C)
n.493T>C
c.1453T>C (p.Ser485Pro)
c.1639T>C (p.Ser547Pro)
c.1168T>C (p.Ser390Pro)
c.*2T>C (n.*2T>C)
17g.58273582A>TCA400370282MPOn.786T>A
c.578T>A (n.578T>A)
n.493T>A
c.1453T>A (p.Ser485Thr)
c.1639T>A (p.Ser547Thr)
c.1168T>A (p.Ser390Thr)
c.*2T>A (n.*2T>A)
dbSNP gnomAD v3 gnomAD v4
17g.58273583G>ACA501022991MPOn.785C>T
c.577C>T (n.577C>T)
n.492C>T
c.1452C>T (p.Asp484=)
c.1638C>T (p.Asp546=)
c.1167C>T (p.Asp389=)
c.*1C>T (n.*1C>T)
gnomAD v4
17g.58273583G>CCA400370286MPOn.785C>G
c.577C>G (n.577C>G)
n.492C>G
c.1452C>G (p.Asp484Glu)
c.1638C>G (p.Asp546Glu)
c.1167C>G (p.Asp389Glu)
c.*1C>G (n.*1C>G)
17g.58273583G>TCA400370287MPOn.785C>A
c.577C>A (n.577C>A)
n.492C>A
c.1452C>A (p.Asp484Glu)
c.1638C>A (p.Asp546Glu)
c.1167C>A (p.Asp389Glu)
c.*1C>A (n.*1C>A)
17g.58273584T>ACA400370289MPOn.784A>T
c.576A>T (p.Ter192Cys)
n.491A>T
c.1451A>T (p.Asp484Val)
c.1637A>T (p.Asp546Val)
c.1166A>T (p.Asp389Val)
c.1476A>T (p.Ter492Cys)
17g.58273584T>CCA400370290MPOn.784A>G
c.576A>G (p.Ter192Trp)
n.491A>G
c.1451A>G (p.Asp484Gly)
c.1637A>G (p.Asp546Gly)
c.1166A>G (p.Asp389Gly)
c.1476A>G (p.Ter492Trp)
17g.58273584T>GCA292012351MPOn.784A>C
c.576A>C (p.Ter192Cys)
n.491A>C
c.1451A>C (p.Asp484Ala)
c.1637A>C (p.Asp546Ala)
c.1166A>C (p.Asp389Ala)
c.1476A>C (p.Ter492Cys)
dbSNP gnomAD v3 gnomAD v4
17g.58273584T=CA2267631328MPOn.784A=
c.576A= (p.Ter192=)
n.491A=
c.1451A= (p.Asp484=)
c.1637A= (p.Asp546=)
c.1166A= (p.Asp389=)
c.1476A= (p.Ter492=)
17g.58273585C>ACA400370293MPOn.783G>T
c.575G>T (p.Ter192Leu)
n.490G>T
c.1450G>T (p.Asp484Tyr)
c.1636G>T (p.Asp546Tyr)
c.1165G>T (p.Asp389Tyr)
c.1475G>T (p.Ter492Leu)
17g.58273585C>GCA400370296MPOn.783G>C
c.575G>C (p.Ter192Ser)
n.490G>C
c.1450G>C (p.Asp484His)
c.1636G>C (p.Asp546His)
c.1165G>C (p.Asp389His)
c.1475G>C (p.Ter492Ser)
17g.58273585C>TCA400370294MPOn.783G>A
c.575G>A (p.Ter192=)
n.490G>A
c.1450G>A (p.Asp484Asn)
c.1636G>A (p.Asp546Asn)
c.1165G>A (p.Asp389Asn)
c.1475G>A (p.Ter492=)
17g.58273586A>CCA400370297MPOn.782T>G
c.574T>G (p.Ter192Gly)
n.489T>G
c.1449T>G (p.Asn483Lys)
c.1635T>G (p.Asn545Lys)
c.1164T>G (p.Asn388Lys)
c.1474T>G (p.Ter492Gly)
17g.58273586A>GCA501023002MPOn.782T>C
c.574T>C (p.Ter192Arg)
n.489T>C
c.1449T>C (p.Asn483=)
c.1635T>C (p.Asn545=)
c.1164T>C (p.Asn388=)
c.1474T>C (p.Ter492Arg)
17g.58273586A>TCA400370299MPOn.782T>A
c.574T>A (p.Ter192Arg)
n.489T>A
c.1449T>A (p.Asn483Lys)
c.1635T>A (p.Asn545Lys)
c.1164T>A (p.Asn388Lys)
c.1474T>A (p.Ter492Arg)
gnomAD v4
17g.58273587T>ACA400370301MPOn.781A>T
c.573A>T (p.Gln191His)
n.488A>T
c.1448A>T (p.Asn483Ile)
c.1634A>T (p.Asn545Ile)
c.1163A>T (p.Asn388Ile)
c.1473A>T (p.Gln491His)
17g.58273587T>CCA8670635MPOn.781A>G
c.573A>G (p.Gln191=)
n.488A>G
c.1448A>G (p.Asn483Ser)
c.1634A>G (p.Asn545Ser)
c.1163A>G (p.Asn388Ser)
c.1473A>G (p.Gln491=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273587T>GCA400370303MPOn.781A>C
c.573A>C (p.Gln191His)
n.488A>C
c.1448A>C (p.Asn483Thr)
c.1634A>C (p.Asn545Thr)
c.1163A>C (p.Asn388Thr)
c.1473A>C (p.Gln491His)
17g.58273587T=CA2267631329MPOn.781A=
c.573A= (p.Gln191=)
n.488A=
c.1448A= (p.Asn483=)
c.1634A= (p.Asn545=)
c.1163A= (p.Asn388=)
c.1473A= (p.Gln491=)
17g.58273588T>ACA400370305MPOn.780A>T
c.572A>T (p.Gln191Leu)
n.487A>T
c.1447A>T (p.Asn483Tyr)
c.1633A>T (p.Asn545Tyr)
c.1162A>T (p.Asn388Tyr)
c.1472A>T (p.Gln491Leu)
17g.58273588T>CCA400370306MPOn.780A>G
c.572A>G (p.Gln191Arg)
n.487A>G
c.1447A>G (p.Asn483Asp)
c.1633A>G (p.Asn545Asp)
c.1162A>G (p.Asn388Asp)
c.1472A>G (p.Gln491Arg)
dbSNP
17g.58273588T>GCA400370308MPOn.780A>C
c.572A>C (p.Gln191Pro)
n.487A>C
c.1447A>C (p.Asn483His)
c.1633A>C (p.Asn545His)
c.1162A>C (p.Asn388His)
c.1472A>C (p.Gln491Pro)
17g.58273588T=CA2267631330MPOn.780A=
c.572A= (p.Gln191=)
n.487A=
c.1447A= (p.Asn483=)
c.1633A= (p.Asn545=)
c.1162A= (p.Asn388=)
c.1472A= (p.Gln491=)
17g.58273589G>ACA501023007MPOn.779C>T
c.571C>T (p.Gln191Ter)
n.486C>T
c.1446C>T (p.Tyr482=)
c.1632C>T (p.Tyr544=)
c.1161C>T (p.Tyr387=)
c.1471C>T (p.Gln491Ter)
17g.58273589G>CCA400370309MPOn.779C>G
c.571C>G (p.Gln191Glu)
n.486C>G
c.1446C>G (p.Tyr482Ter)
c.1632C>G (p.Tyr544Ter)
c.1161C>G (p.Tyr387Ter)
c.1471C>G (p.Gln491Glu)
17g.58273589G>TCA400370311MPOn.779C>A
c.571C>A (p.Gln191Lys)
n.486C>A
c.1446C>A (p.Tyr482Ter)
c.1632C>A (p.Tyr544Ter)
c.1161C>A (p.Tyr387Ter)
c.1471C>A (p.Gln491Lys)
gnomAD v4
17g.58273590T>ACA400370313MPOn.778A>T
c.570A>T (p.Leu190=)
n.485A>T
c.1445A>T (p.Tyr482Phe)
c.1631A>T (p.Tyr544Phe)
c.1160A>T (p.Tyr387Phe)
c.1470A>T (p.Leu490=)
17g.58273590T>CCA400370315MPOn.778A>G
c.570A>G (p.Leu190=)
n.485A>G
c.1445A>G (p.Tyr482Cys)
c.1631A>G (p.Tyr544Cys)
c.1160A>G (p.Tyr387Cys)
c.1470A>G (p.Leu490=)
gnomAD v4
17g.58273590T>GCA400370316MPOn.778A>C
c.570A>C (p.Leu190=)
n.485A>C
c.1445A>C (p.Tyr482Ser)
c.1631A>C (p.Tyr544Ser)
c.1160A>C (p.Tyr387Ser)
c.1470A>C (p.Leu490=)
17g.58273591A=CA2267631331MPOn.777T=
c.569T= (p.Leu190=)
n.484T=
c.1444T= (p.Tyr482=)
c.1630T= (p.Tyr544=)
c.1159T= (p.Tyr387=)
c.1469T= (p.Leu490=)
17g.58273591A>CCA400370318MPOn.777T>G
c.569T>G (p.Leu190Arg)
n.484T>G
c.1444T>G (p.Tyr482Asp)
c.1630T>G (p.Tyr544Asp)
c.1159T>G (p.Tyr387Asp)
c.1469T>G (p.Leu490Arg)
17g.58273591A>GCA8670636MPOn.777T>C
c.569T>C (p.Leu190Pro)
n.484T>C
c.1444T>C (p.Tyr482His)
c.1630T>C (p.Tyr544His)
c.1159T>C (p.Tyr387His)
c.1469T>C (p.Leu490Pro)
dbSNP ExAC gnomAD v2
17g.58273591A>TCA400370319MPOn.777T>A
c.569T>A (p.Leu190Gln)
n.484T>A
c.1444T>A (p.Tyr482Asn)
c.1630T>A (p.Tyr544Asn)
c.1159T>A (p.Tyr387Asn)
c.1469T>A (p.Leu490Gln)
17g.58273592G>ACA501023024MPOn.776C>T
c.568C>T (p.Leu190=)
n.483C>T
c.1443C>T (p.Ser481=)
c.1629C>T (p.Ser543=)
c.1158C>T (p.Ser386=)
c.1468C>T (p.Leu490=)
gnomAD v4
17g.58273592G>CCA501023025MPOn.776C>G
c.568C>G (p.Leu190Val)
n.483C>G
c.1443C>G (p.Ser481=)
c.1629C>G (p.Ser543=)
c.1158C>G (p.Ser386=)
c.1468C>G (p.Leu490Val)
gnomAD v4
17g.58273592G>TCA501023028MPOn.776C>A
c.568C>A (p.Leu190Ile)
n.483C>A
c.1443C>A (p.Ser481=)
c.1629C>A (p.Ser543=)
c.1158C>A (p.Ser386=)
c.1468C>A (p.Leu490Ile)
17g.58273593G>ACA400370321MPOn.775C>T
c.567C>T (p.Phe189=)
n.482C>T
c.1442C>T (p.Ser481Phe)
c.1628C>T (p.Ser543Phe)
c.1157C>T (p.Ser386Phe)
c.1467C>T (p.Phe489=)
17g.58273593G>CCA400370323MPOn.775C>G
c.567C>G (p.Phe189Leu)
n.482C>G
c.1442C>G (p.Ser481Cys)
c.1628C>G (p.Ser543Cys)
c.1157C>G (p.Ser386Cys)
c.1467C>G (p.Phe489Leu)
COSMIC COSMIC
17g.58273593G>TCA400370324MPOn.775C>A
c.567C>A (p.Phe189Leu)
n.482C>A
c.1442C>A (p.Ser481Tyr)
c.1628C>A (p.Ser543Tyr)
c.1157C>A (p.Ser386Tyr)
c.1467C>A (p.Phe489Leu)
17g.58273594A=CA2267631332MPOn.774T=
c.566T= (p.Phe189=)
n.481T=
c.1441T= (p.Ser481=)
c.1627T= (p.Ser543=)
c.1156T= (p.Ser386=)
c.1466T= (p.Phe489=)
17g.58273594A>CCA400370326MPOn.774T>G
c.566T>G (p.Phe189Cys)
n.481T>G
c.1441T>G (p.Ser481Ala)
c.1627T>G (p.Ser543Ala)
c.1156T>G (p.Ser386Ala)
c.1466T>G (p.Phe489Cys)
gnomAD v4
17g.58273594A>GCA400370328MPOn.774T>C
c.566T>C (p.Phe189Ser)
n.481T>C
c.1441T>C (p.Ser481Pro)
c.1627T>C (p.Ser543Pro)
c.1156T>C (p.Ser386Pro)
c.1466T>C (p.Phe489Ser)
17g.58273594A>TCA400370329MPOn.774T>A
c.566T>A (p.Phe189Tyr)
n.481T>A
c.1441T>A (p.Ser481Thr)
c.1627T>A (p.Ser543Thr)
c.1156T>A (p.Ser386Thr)
c.1466T>A (p.Phe489Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273595A>CCA501023040MPOn.773T>G
c.565T>G (p.Phe189Val)
n.480T>G
c.1440T>G (p.Arg480=)
c.1626T>G (p.Arg542=)
c.1155T>G (p.Arg385=)
c.1465T>G (p.Phe489Val)
17g.58273595A>GCA501023042MPOn.773T>C
c.565T>C (p.Phe189Leu)
n.480T>C
c.1440T>C (p.Arg480=)
c.1626T>C (p.Arg542=)
c.1155T>C (p.Arg385=)
c.1465T>C (p.Phe489Leu)
17g.58273595A>TCA501023053MPOn.773T>A
c.565T>A (p.Phe189Ile)
n.480T>A
c.1440T>A (p.Arg480=)
c.1626T>A (p.Arg542=)
c.1155T>A (p.Arg385=)
c.1465T>A (p.Phe489Ile)
17g.58273596C>ACA400370333MPOn.772G>T
c.564G>T (p.Pro188=)
n.479G>T
c.1439G>T (p.Arg480Leu)
c.1625G>T (p.Arg542Leu)
c.1154G>T (p.Arg385Leu)
c.1464G>T (p.Pro488=)
17g.58273596C=CA2267631333MPOn.772G=
c.564G= (p.Pro188=)
n.479G=
c.1439G= (p.Arg480=)
c.1625G= (p.Arg542=)
c.1154G= (p.Arg385=)
c.1464G= (p.Pro488=)
17g.58273596C>GCA400370331MPOn.772G>C
c.564G>C (p.Pro188=)
n.479G>C
c.1439G>C (p.Arg480Pro)
c.1625G>C (p.Arg542Pro)
c.1154G>C (p.Arg385Pro)
c.1464G>C (p.Pro488=)
17g.58273596C>TCA8670637MPOn.772G>A
c.564G>A (p.Pro188=)
n.479G>A
c.1439G>A (p.Arg480His)
c.1625G>A (p.Arg542His)
c.1154G>A (p.Arg385His)
c.1464G>A (p.Pro488=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273597G>ACA8670638MPOn.771C>T
c.563C>T (p.Pro188Leu)
n.478C>T
c.1438C>T (p.Arg480Cys)
c.1624C>T (p.Arg542Cys)
c.1153C>T (p.Arg385Cys)
c.1463C>T (p.Pro488Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273597G>CCA400370335MPOn.771C>G
c.563C>G (p.Pro188Arg)
n.478C>G
c.1438C>G (p.Arg480Gly)
c.1624C>G (p.Arg542Gly)
c.1153C>G (p.Arg385Gly)
c.1463C>G (p.Pro488Arg)
17g.58273597G=CA2267631334MPOn.771C=
c.563C= (p.Pro188=)
n.478C=
c.1438C= (p.Arg480=)
c.1624C= (p.Arg542=)
c.1153C= (p.Arg385=)
c.1463C= (p.Pro488=)
17g.58273597G>TCA400370337MPOn.771C>A
c.563C>A (p.Pro188Gln)
n.478C>A
c.1438C>A (p.Arg480Ser)
c.1624C>A (p.Arg542Ser)
c.1153C>A (p.Arg385Ser)
c.1463C>A (p.Pro488Gln)
gnomAD v4
17g.58273598G>ACA501023064MPOn.770C>T
c.562C>T (p.Pro188Ser)
n.477C>T
c.1437C>T (p.Tyr479=)
c.1623C>T (p.Tyr541=)
c.1152C>T (p.Tyr384=)
c.1462C>T (p.Pro488Ser)
17g.58273598G>CCA400370338MPOn.770C>G
c.562C>G (p.Pro188Ala)
n.477C>G
c.1437C>G (p.Tyr479Ter)
c.1623C>G (p.Tyr541Ter)
c.1152C>G (p.Tyr384Ter)
c.1462C>G (p.Pro488Ala)
17g.58273598G>TCA400370339MPOn.770C>A
c.562C>A (p.Pro188Thr)
n.477C>A
c.1437C>A (p.Tyr479Ter)
c.1623C>A (p.Tyr541Ter)
c.1152C>A (p.Tyr384Ter)
c.1462C>A (p.Pro488Thr)
17g.58273599T>ACA400370341MPOn.769A>T
c.561A>T (p.Val187=)
n.476A>T
c.1436A>T (p.Tyr479Phe)
c.1622A>T (p.Tyr541Phe)
c.1151A>T (p.Tyr384Phe)
c.1461A>T (p.Val487=)
17g.58273599T>CCA400370343MPOn.769A>G
c.561A>G (p.Val187=)
n.476A>G
c.1436A>G (p.Tyr479Cys)
c.1622A>G (p.Tyr541Cys)
c.1151A>G (p.Tyr384Cys)
c.1461A>G (p.Val487=)
17g.58273599T>GCA400370342MPOn.769A>C
c.561A>C (p.Val187=)
n.476A>C
c.1436A>C (p.Tyr479Ser)
c.1622A>C (p.Tyr541Ser)
c.1151A>C (p.Tyr384Ser)
c.1461A>C (p.Val487=)
17g.58273600A>CCA400370344MPOn.768T>G
c.560T>G (p.Val187Gly)
n.475T>G
c.1435T>G (p.Tyr479Asp)
c.1621T>G (p.Tyr541Asp)
c.1150T>G (p.Tyr384Asp)
c.1460T>G (p.Val487Gly)
17g.58273600A>GCA400370346MPOn.768T>C
c.560T>C (p.Val187Ala)
n.475T>C
c.1435T>C (p.Tyr479His)
c.1621T>C (p.Tyr541His)
c.1150T>C (p.Tyr384His)
c.1460T>C (p.Val487Ala)
17g.58273600A>TCA400370348MPOn.768T>A
c.560T>A (p.Val187Glu)
n.475T>A
c.1435T>A (p.Tyr479Asn)
c.1621T>A (p.Tyr541Asn)
c.1150T>A (p.Tyr384Asn)
c.1460T>A (p.Val487Glu)
gnomAD v4
17g.58273601C>ACA501023080MPOn.767G>T
c.559G>T (p.Val187Leu)
n.474G>T
c.1434G>T (p.Thr478=)
c.1620G>T (p.Thr540=)
c.1149G>T (p.Thr383=)
c.1459G>T (p.Val487Leu)
17g.58273601C=CA2267631335MPOn.767G=
c.559G= (p.Val187=)
n.474G=
c.1434G= (p.Thr478=)
c.1620G= (p.Thr540=)
c.1149G= (p.Thr383=)
c.1459G= (p.Val487=)
17g.58273601C>GCA8670640MPOn.767G>C
c.559G>C (p.Val187Leu)
n.474G>C
c.1434G>C (p.Thr478=)
c.1620G>C (p.Thr540=)
c.1149G>C (p.Thr383=)
c.1459G>C (p.Val487Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273601C>TCA8670639MPOn.767G>A
c.559G>A (p.Val187Ile)
n.474G>A
c.1434G>A (p.Thr478=)
c.1620G>A (p.Thr540=)
c.1149G>A (p.Thr383=)
c.1459G>A (p.Val487Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273602G>ACA8670641MPOn.766C>T
c.558C>T (p.His186=)
n.473C>T
c.1433C>T (p.Thr478Met)
c.1619C>T (p.Thr540Met)
c.1148C>T (p.Thr383Met)
c.1458C>T (p.His486=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.58273602G>CCA400370351MPOn.766C>G
c.558C>G (p.His186Gln)
n.473C>G
c.1433C>G (p.Thr478Arg)
c.1619C>G (p.Thr540Arg)
c.1148C>G (p.Thr383Arg)
c.1458C>G (p.His486Gln)
17g.58273602G=CA2267631336MPOn.766C=
c.558C= (p.His186=)
n.473C=
c.1433C= (p.Thr478=)
c.1619C= (p.Thr540=)
c.1148C= (p.Thr383=)
c.1458C= (p.His486=)
17g.58273602G>TCA400370352MPOn.766C>A
c.558C>A (p.His186Gln)
n.473C>A
c.1433C>A (p.Thr478Lys)
c.1619C>A (p.Thr540Lys)
c.1148C>A (p.Thr383Lys)
c.1458C>A (p.His486Gln)
17g.58273603T>ACA400370354MPOn.765A>T
c.557A>T (p.His186Leu)
n.472A>T
c.1432A>T (p.Thr478Ser)
c.1618A>T (p.Thr540Ser)
c.1147A>T (p.Thr383Ser)
c.1457A>T (p.His486Leu)
COSMIC COSMIC
17g.58273603T>CCA400370356MPOn.765A>G
c.557A>G (p.His186Arg)
n.472A>G
c.1432A>G (p.Thr478Ala)
c.1618A>G (p.Thr540Ala)
c.1147A>G (p.Thr383Ala)
c.1457A>G (p.His486Arg)
gnomAD v4
17g.58273603T>GCA400370358MPOn.765A>C
c.557A>C (p.His186Pro)
n.472A>C
c.1432A>C (p.Thr478Pro)
c.1618A>C (p.Thr540Pro)
c.1147A>C (p.Thr383Pro)
c.1457A>C (p.His486Pro)
17g.58273604G>ACA501023086MPOn.764C>T
c.556C>T (p.His186Tyr)
n.471C>T
c.1431C>T (p.Pro477=)
c.1617C>T (p.Pro539=)
c.1146C>T (p.Pro382=)
c.1456C>T (p.His486Tyr)
dbSNP
17g.58273604G>CCA501023087MPOn.764C>G
c.556C>G (p.His186Asp)
n.471C>G
c.1431C>G (p.Pro477=)
c.1617C>G (p.Pro539=)
c.1146C>G (p.Pro382=)
c.1456C>G (p.His486Asp)
17g.58273604G=CA2267631337MPOn.764C=
c.556C= (p.His186=)
n.471C=
c.1431C= (p.Pro477=)
c.1617C= (p.Pro539=)
c.1146C= (p.Pro382=)
c.1456C= (p.His486=)
17g.58273604G>TCA501023089MPOn.764C>A
c.556C>A (p.His186Asn)
n.471C>A
c.1431C>A (p.Pro477=)
c.1617C>A (p.Pro539=)
c.1146C>A (p.Pro382=)
c.1456C>A (p.His486Asn)
17g.58273605G>ACA400370359MPOn.763C>T
c.555C>T (p.Ala185=)
n.470C>T
c.1430C>T (p.Pro477Leu)
c.1616C>T (p.Pro539Leu)
c.1145C>T (p.Pro382Leu)
c.1455C>T (p.Ala485=)
17g.58273605G>CCA400370363MPOn.763C>G
c.555C>G (p.Ala185=)
n.470C>G
c.1430C>G (p.Pro477Arg)
c.1616C>G (p.Pro539Arg)
c.1145C>G (p.Pro382Arg)
c.1455C>G (p.Ala485=)
17g.58273605G>TCA400370361MPOn.763C>A
c.555C>A (p.Ala185=)
n.470C>A
c.1430C>A (p.Pro477His)
c.1616C>A (p.Pro539His)
c.1145C>A (p.Pro382His)
c.1455C>A (p.Ala485=)
17g.58273606G>ACA400370365MPOn.762C>T
c.554C>T (p.Ala185Val)
n.469C>T
c.1429C>T (p.Pro477Ser)
c.1615C>T (p.Pro539Ser)
c.1144C>T (p.Pro382Ser)
c.1454C>T (p.Ala485Val)
dbSNP gnomAD v2 gnomAD v4
17g.58273606G>CCA400370367MPOn.762C>G
c.554C>G (p.Ala185Gly)
n.469C>G
c.1429C>G (p.Pro477Ala)
c.1615C>G (p.Pro539Ala)
c.1144C>G (p.Pro382Ala)
c.1454C>G (p.Ala485Gly)
17g.58273606G=CA2267631338MPOn.762C=
c.554C= (p.Ala185=)
n.469C=
c.1429C= (p.Pro477=)
c.1615C= (p.Pro539=)
c.1144C= (p.Pro382=)
c.1454C= (p.Ala485=)
17g.58273606G>TCA400370366MPOn.762C>A
c.554C>A (p.Ala185Asp)
n.469C>A
c.1429C>A (p.Pro477Thr)
c.1615C>A (p.Pro539Thr)
c.1144C>A (p.Pro382Thr)
c.1454C>A (p.Ala485Asp)
17g.58273607C>ACA501023093MPOn.761G>T
c.553G>T (p.Ala185Ser)
n.468G>T
c.1428G>T (p.Leu476=)
c.1614G>T (p.Leu538=)
c.1143G>T (p.Leu381=)
c.1453G>T (p.Ala485Ser)
17g.58273607C>GCA501023096MPOn.761G>C
c.553G>C (p.Ala185Pro)
n.468G>C
c.1428G>C (p.Leu476=)
c.1614G>C (p.Leu538=)
c.1143G>C (p.Leu381=)
c.1453G>C (p.Ala485Pro)
17g.58273607C>TCA501023100MPOn.761G>A
c.553G>A (p.Ala185Thr)
n.468G>A
c.1428G>A (p.Leu476=)
c.1614G>A (p.Leu538=)
c.1143G>A (p.Leu381=)
c.1453G>A (p.Ala485Thr)
gnomAD v4
17g.58273608A>CCA400370369MPOn.760T>G
c.552T>G (p.Pro184=)
n.467T>G
c.1427T>G (p.Leu476Arg)
c.1613T>G (p.Leu538Arg)
c.1142T>G (p.Leu381Arg)
c.1452T>G (p.Pro484=)
17g.58273608A>GCA400370371MPOn.760T>C
c.552T>C (p.Pro184=)
n.467T>C
c.1427T>C (p.Leu476Pro)
c.1613T>C (p.Leu538Pro)
c.1142T>C (p.Leu381Pro)
c.1452T>C (p.Pro484=)
gnomAD v4
17g.58273608A>TCA400370372MPOn.760T>A
c.552T>A (p.Pro184=)
n.467T>A
c.1427T>A (p.Leu476Gln)
c.1613T>A (p.Leu538Gln)
c.1142T>A (p.Leu381Gln)
c.1452T>A (p.Pro484=)
17g.58273609G>ACA501023110MPOn.759C>T
c.551C>T (p.Pro184Leu)
n.466C>T
c.1426C>T (p.Leu476=)
c.1612C>T (p.Leu538=)
c.1141C>T (p.Leu381=)
c.1451C>T (p.Pro484Leu)
gnomAD v4
17g.58273609G>CCA400370373MPOn.759C>G
c.551C>G (p.Pro184Arg)
n.466C>G
c.1426C>G (p.Leu476Val)
c.1612C>G (p.Leu538Val)
c.1141C>G (p.Leu381Val)
c.1451C>G (p.Pro484Arg)
17g.58273609G>TCA400370375MPOn.759C>A
c.551C>A (p.Pro184His)
n.466C>A
c.1426C>A (p.Leu476Met)
c.1612C>A (p.Leu538Met)
c.1141C>A (p.Leu381Met)
c.1451C>A (p.Pro484His)
17g.58273610G>ACA501023117MPOn.758C>T
c.550C>T (p.Pro184Ser)
n.465C>T
c.1425C>T (p.Tyr475=)
c.1611C>T (p.Tyr537=)
c.1140C>T (p.Tyr380=)
c.1450C>T (p.Pro484Ser)
dbSNP gnomAD v2 gnomAD v4
17g.58273610G>CCA400370377MPOn.758C>G
c.550C>G (p.Pro184Ala)
n.465C>G
c.1425C>G (p.Tyr475Ter)
c.1611C>G (p.Tyr537Ter)
c.1140C>G (p.Tyr380Ter)
c.1450C>G (p.Pro484Ala)
17g.58273610G=CA2267631339MPOn.758C=
c.550C= (p.Pro184=)
n.465C=
c.1425C= (p.Tyr475=)
c.1611C= (p.Tyr537=)
c.1140C= (p.Tyr380=)
c.1450C= (p.Pro484=)
17g.58273610G>TCA400370378MPOn.758C>A
c.550C>A (p.Pro184Thr)
n.465C>A
c.1425C>A (p.Tyr475Ter)
c.1611C>A (p.Tyr537Ter)
c.1140C>A (p.Tyr380Ter)
c.1450C>A (p.Pro484Thr)
17g.58273611T>ACA400370380MPOn.757A>T
c.549A>T (p.Val183=)
n.464A>T
c.1424A>T (p.Tyr475Phe)
c.1610A>T (p.Tyr537Phe)
c.1139A>T (p.Tyr380Phe)
c.1449A>T (p.Val483=)
17g.58273611T>CCA400370381MPOn.757A>G
c.549A>G (p.Val183=)
n.464A>G
c.1424A>G (p.Tyr475Cys)
c.1610A>G (p.Tyr537Cys)
c.1139A>G (p.Tyr380Cys)
c.1449A>G (p.Val483=)
17g.58273611T>GCA400370382MPOn.757A>C
c.549A>C (p.Val183=)
n.464A>C
c.1424A>C (p.Tyr475Ser)
c.1610A>C (p.Tyr537Ser)
c.1139A>C (p.Tyr380Ser)
c.1449A>C (p.Val483=)
17g.58273612A=CA2267631340MPOn.756T=
c.548T= (p.Val183=)
n.463T=
c.1423T= (p.Tyr475=)
c.1609T= (p.Tyr537=)
c.1138T= (p.Tyr380=)
c.1448T= (p.Val483=)
17g.58273612A>CCA400370384MPOn.756T>G
c.548T>G (p.Val183Gly)
n.463T>G
c.1423T>G (p.Tyr475Asp)
c.1609T>G (p.Tyr537Asp)
c.1138T>G (p.Tyr380Asp)
c.1448T>G (p.Val483Gly)
17g.58273612A>GCA8670642MPOn.756T>C
c.548T>C (p.Val183Ala)
n.463T>C
c.1423T>C (p.Tyr475His)
c.1609T>C (p.Tyr537His)
c.1138T>C (p.Tyr380His)
c.1448T>C (p.Val483Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273612A>TCA400370387MPOn.756T>A
c.548T>A (p.Val183Glu)
n.463T>A
c.1423T>A (p.Tyr475Asn)
c.1609T>A (p.Tyr537Asn)
c.1138T>A (p.Tyr380Asn)
c.1448T>A (p.Val483Glu)
17g.58273613C>ACA400370388MPOn.755G>T
c.547G>T (p.Val183Leu)
n.462G>T
c.1422G>T (p.Lys474Asn)
c.1608G>T (p.Lys536Asn)
c.1137G>T (p.Lys379Asn)
c.1447G>T (p.Val483Leu)
17g.58273613C=CA2267631341MPOn.755G=
c.547G= (p.Val183=)
n.462G=
c.1422G= (p.Lys474=)
c.1608G= (p.Lys536=)
c.1137G= (p.Lys379=)
c.1447G= (p.Val483=)
17g.58273613C>GCA400370389MPOn.755G>C
c.547G>C (p.Val183Leu)
n.462G>C
c.1422G>C (p.Lys474Asn)
c.1608G>C (p.Lys536Asn)
c.1137G>C (p.Lys379Asn)
c.1447G>C (p.Val483Leu)
17g.58273613C>TCA501023135MPOn.755G>A
c.547G>A (p.Val183Ile)
n.462G>A
c.1422G>A (p.Lys474=)
c.1608G>A (p.Lys536=)
c.1137G>A (p.Lys379=)
c.1447G>A (p.Val483Ile)
dbSNP gnomAD v4
17g.58273614T>ACA400370392MPOn.754A>T
c.546A>T (p.Glu182Asp)
n.461A>T
c.1421A>T (p.Lys474Met)
c.1607A>T (p.Lys536Met)
c.1136A>T (p.Lys379Met)
c.1446A>T (p.Glu482Asp)
dbSNP
17g.58273614T>CCA400370394MPOn.754A>G
c.546A>G (p.Glu182=)
n.461A>G
c.1421A>G (p.Lys474Arg)
c.1607A>G (p.Lys536Arg)
c.1136A>G (p.Lys379Arg)
c.1446A>G (p.Glu482=)
gnomAD v4
17g.58273614T>GCA400370395MPOn.754A>C
c.546A>C (p.Glu182Asp)
n.461A>C
c.1421A>C (p.Lys474Thr)
c.1607A>C (p.Lys536Thr)
c.1136A>C (p.Lys379Thr)
c.1446A>C (p.Glu482Asp)
17g.58273614T=CA2267631342MPOn.754A=
c.546A= (p.Glu182=)
n.461A=
c.1421A= (p.Lys474=)
c.1607A= (p.Lys536=)
c.1136A= (p.Lys379=)
c.1446A= (p.Glu482=)
17g.58273615T>ACA400370397MPOn.753A>T
c.545A>T (p.Glu182Val)
n.460A>T
c.1420A>T (p.Lys474Ter)
c.1606A>T (p.Lys536Ter)
c.1135A>T (p.Lys379Ter)
c.1445A>T (p.Glu482Val)
17g.58273615T>CCA400370398MPOn.753A>G
c.545A>G (p.Glu182Gly)
n.460A>G
c.1420A>G (p.Lys474Glu)
c.1606A>G (p.Lys536Glu)
c.1135A>G (p.Lys379Glu)
c.1445A>G (p.Glu482Gly)
17g.58273615T>GCA400370400MPOn.753A>C
c.545A>C (p.Glu182Ala)
n.460A>C
c.1420A>C (p.Lys474Gln)
c.1606A>C (p.Lys536Gln)
c.1135A>C (p.Lys379Gln)
c.1445A>C (p.Glu482Ala)
17g.58273616C>ACA400370402MPOn.752G>T
c.544G>T (p.Glu182Ter)
n.459G>T
c.1419G>T (p.Arg473Ser)
c.1605G>T (p.Arg535Ser)
c.1134G>T (p.Arg378Ser)
c.1444G>T (p.Glu482Ter)
17g.58273616C>GCA400370403MPOn.752G>C
c.544G>C (p.Glu182Gln)
n.459G>C
c.1419G>C (p.Arg473Ser)
c.1605G>C (p.Arg535Ser)
c.1134G>C (p.Arg378Ser)
c.1444G>C (p.Glu482Gln)
17g.58273616C>TCA501023147MPOn.752G>A
c.544G>A (p.Glu182Lys)
n.459G>A
c.1419G>A (p.Arg473=)
c.1605G>A (p.Arg535=)
c.1134G>A (p.Arg378=)
c.1444G>A (p.Glu482Lys)
17g.58273617C>ACA400370405MPOn.751G>T
c.543G>T (p.Glu181Asp)
n.458G>T
c.1418G>T (p.Arg473Met)
c.1604G>T (p.Arg535Met)
c.1133G>T (p.Arg378Met)
c.1443G>T (p.Glu481Asp)
17g.58273617C=CA2267631343MPOn.751G=
c.543G= (p.Glu181=)
n.458G=
c.1418G= (p.Arg473=)
c.1604G= (p.Arg535=)
c.1133G= (p.Arg378=)
c.1443G= (p.Glu481=)
17g.58273617C>GCA400370407MPOn.751G>C
c.543G>C (p.Glu181Asp)
n.458G>C
c.1418G>C (p.Arg473Thr)
c.1604G>C (p.Arg535Thr)
c.1133G>C (p.Arg378Thr)
c.1443G>C (p.Glu481Asp)
17g.58273617C>TCA400370408MPOn.751G>A
c.543G>A (p.Glu181=)
n.458G>A
c.1418G>A (p.Arg473Lys)
c.1604G>A (p.Arg535Lys)
c.1133G>A (p.Arg378Lys)
c.1443G>A (p.Glu481=)
dbSNP gnomAD v4
17g.58273618T>ACA400370411MPOn.750A>T
c.542A>T (p.Glu181Val)
n.457A>T
c.1417A>T (p.Arg473Trp)
c.1603A>T (p.Arg535Trp)
c.1132A>T (p.Arg378Trp)
c.1442A>T (p.Glu481Val)
17g.58273618T>CCA400370409MPOn.750A>G
c.542A>G (p.Glu181Gly)
n.457A>G
c.1417A>G (p.Arg473Gly)
c.1603A>G (p.Arg535Gly)
c.1132A>G (p.Arg378Gly)
c.1442A>G (p.Glu481Gly)
17g.58273618T>GCA501023162MPOn.750A>C
c.542A>C (p.Glu181Ala)
n.457A>C
c.1417A>C (p.Arg473=)
c.1603A>C (p.Arg535=)
c.1132A>C (p.Arg378=)
c.1442A>C (p.Glu481Ala)
17g.58273619C>ACA400370413MPOn.749G>T
c.541G>T (p.Glu181Ter)
n.456G>T
c.1416G>T (p.Met472Ile)
c.1602G>T (p.Met534Ile)
c.1131G>T (p.Met377Ile)
c.1441G>T (p.Glu481Ter)
17g.58273619C>GCA400370415MPOn.749G>C
c.541G>C (p.Glu181Gln)
n.456G>C
c.1416G>C (p.Met472Ile)
c.1602G>C (p.Met534Ile)
c.1131G>C (p.Met377Ile)
c.1441G>C (p.Glu481Gln)
17g.58273619C>TCA400370416MPOn.749G>A
c.541G>A (p.Glu181Lys)
n.456G>A
c.1416G>A (p.Met472Ile)
c.1602G>A (p.Met534Ile)
c.1131G>A (p.Met377Ile)
c.1441G>A (p.Glu481Lys)
17g.58273620A=CA2267631344MPOn.748T=
c.540T= (p.His180=)
n.455T=
c.1415T= (p.Met472=)
c.1601T= (p.Met534=)
c.1130T= (p.Met377=)
c.1440T= (p.His480=)
17g.58273620A>CCA400370417MPOn.748T>G
c.540T>G (p.His180Gln)
n.455T>G
c.1415T>G (p.Met472Arg)
c.1601T>G (p.Met534Arg)
c.1130T>G (p.Met377Arg)
c.1440T>G (p.His480Gln)
dbSNP gnomAD v4
17g.58273620A>GCA8670643MPOn.748T>C
c.540T>C (p.His180=)
n.455T>C
c.1415T>C (p.Met472Thr)
c.1601T>C (p.Met534Thr)
c.1130T>C (p.Met377Thr)
c.1440T>C (p.His480=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273620A>TCA400370419MPOn.748T>A
c.540T>A (p.His180Gln)
n.455T>A
c.1415T>A (p.Met472Lys)
c.1601T>A (p.Met534Lys)
c.1130T>A (p.Met377Lys)
c.1440T>A (p.His480Gln)
gnomAD v4
17g.58273621T>ACA400370420MPOn.747A>T
c.539A>T (p.His180Leu)
n.454A>T
c.1414A>T (p.Met472Leu)
c.1600A>T (p.Met534Leu)
c.1129A>T (p.Met377Leu)
c.1439A>T (p.His480Leu)
17g.58273621T>CCA8670644MPOn.747A>G
c.539A>G (p.His180Arg)
n.454A>G
c.1414A>G (p.Met472Val)
c.1600A>G (p.Met534Val)
c.1129A>G (p.Met377Val)
c.1439A>G (p.His480Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273621T>GCA400370422MPOn.747A>C
c.539A>C (p.His180Pro)
n.454A>C
c.1414A>C (p.Met472Leu)
c.1600A>C (p.Met534Leu)
c.1129A>C (p.Met377Leu)
c.1439A>C (p.His480Pro)
17g.58273621T=CA2267631345MPOn.747A=
c.539A= (p.His180=)
n.454A=
c.1414A= (p.Met472=)
c.1600A= (p.Met534=)
c.1129A= (p.Met377=)
c.1439A= (p.His480=)
17g.58273622G>ACA501023192MPOn.746C>T
c.538C>T (p.His180Tyr)
n.453C>T
c.1413C>T (p.Ala471=)
c.1599C>T (p.Ala533=)
c.1128C>T (p.Ala376=)
c.1438C>T (p.His480Tyr)
17g.58273622G>CCA501023190MPOn.746C>G
c.538C>G (p.His180Asp)
n.453C>G
c.1413C>G (p.Ala471=)
c.1599C>G (p.Ala533=)
c.1128C>G (p.Ala376=)
c.1438C>G (p.His480Asp)
17g.58273622G>TCA501023186MPOn.746C>A
c.538C>A (p.His180Asn)
n.453C>A
c.1413C>A (p.Ala471=)
c.1599C>A (p.Ala533=)
c.1128C>A (p.Ala376=)
c.1438C>A (p.His480Asn)
17g.58273623G>ACA400370424MPOn.745C>T
c.537C>T (p.Gly179=)
n.452C>T
c.1412C>T (p.Ala471Val)
c.1598C>T (p.Ala533Val)
c.1127C>T (p.Ala376Val)
c.1437C>T (p.Gly479=)
17g.58273623G>CCA400370426MPOn.745C>G
c.537C>G (p.Gly179=)
n.452C>G
c.1412C>G (p.Ala471Gly)
c.1598C>G (p.Ala533Gly)
c.1127C>G (p.Ala376Gly)
c.1437C>G (p.Gly479=)
17g.58273623G>TCA400370427MPOn.745C>A
c.537C>A (p.Gly179=)
n.452C>A
c.1412C>A (p.Ala471Asp)
c.1598C>A (p.Ala533Asp)
c.1127C>A (p.Ala376Asp)
c.1437C>A (p.Gly479=)
17g.58273624C>ACA400370431MPOn.744G>T
c.536G>T (p.Gly179Val)
n.451G>T
c.1411G>T (p.Ala471Ser)
c.1597G>T (p.Ala533Ser)
c.1126G>T (p.Ala376Ser)
c.1436G>T (p.Gly479Val)
17g.58273624C>GCA400370433MPOn.744G>C
c.536G>C (p.Gly179Ala)
n.451G>C
c.1411G>C (p.Ala471Pro)
c.1597G>C (p.Ala533Pro)
c.1126G>C (p.Ala376Pro)
c.1436G>C (p.Gly479Ala)
17g.58273624C>TCA400370429MPOn.744G>A
c.536G>A (p.Gly179Asp)
n.451G>A
c.1411G>A (p.Ala471Thr)
c.1597G>A (p.Ala533Thr)
c.1126G>A (p.Ala376Thr)
c.1436G>A (p.Gly479Asp)
COSMIC COSMIC
17g.58273625C>ACA8670646MPOn.743G>T
c.535G>T (p.Gly179Cys)
n.450G>T
c.1410G>T (p.Thr470=)
c.1596G>T (p.Thr532=)
c.1125G>T (p.Thr375=)
c.1435G>T (p.Gly479Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273625C=CA2267631346MPOn.743G=
c.535G= (p.Gly179=)
n.450G=
c.1410G= (p.Thr470=)
c.1596G= (p.Thr532=)
c.1125G= (p.Thr375=)
c.1435G= (p.Gly479=)
17g.58273625C>GCA501023212MPOn.743G>C
c.535G>C (p.Gly179Arg)
n.450G>C
c.1410G>C (p.Thr470=)
c.1596G>C (p.Thr532=)
c.1125G>C (p.Thr375=)
c.1435G>C (p.Gly479Arg)
17g.58273625C>TCA8670645MPOn.743G>A
c.535G>A (p.Gly179Ser)
n.450G>A
c.1410G>A (p.Thr470=)
c.1596G>A (p.Thr532=)
c.1125G>A (p.Thr375=)
c.1435G>A (p.Gly479Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273626G>ACA400370436MPOn.742C>T
c.534C>T (p.Asn178=)
n.449C>T
c.1409C>T (p.Thr470Met)
c.1595C>T (p.Thr532Met)
c.1124C>T (p.Thr375Met)
c.1434C>T (p.Asn478=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273626G>CCA400370437MPOn.742C>G
c.534C>G (p.Asn178Lys)
n.449C>G
c.1409C>G (p.Thr470Arg)
c.1595C>G (p.Thr532Arg)
c.1124C>G (p.Thr375Arg)
c.1434C>G (p.Asn478Lys)
gnomAD v4
17g.58273626G=CA2267631347MPOn.742C=
c.534C= (p.Asn178=)
n.449C=
c.1409C= (p.Thr470=)
c.1595C= (p.Thr532=)
c.1124C= (p.Thr375=)
c.1434C= (p.Asn478=)
17g.58273626G>TCA400370439MPOn.742C>A
c.534C>A (p.Asn178Lys)
n.449C>A
c.1409C>A (p.Thr470Lys)
c.1595C>A (p.Thr532Lys)
c.1124C>A (p.Thr375Lys)
c.1434C>A (p.Asn478Lys)
dbSNP gnomAD v2
17g.58273627T>ACA400370444MPOn.741A>T
c.533A>T (p.Asn178Ile)
n.448A>T
c.1408A>T (p.Thr470Ser)
c.1594A>T (p.Thr532Ser)
c.1123A>T (p.Thr375Ser)
c.1433A>T (p.Asn478Ile)
17g.58273627T>CCA400370441MPOn.741A>G
c.533A>G (p.Asn178Ser)
n.448A>G
c.1408A>G (p.Thr470Ala)
c.1594A>G (p.Thr532Ala)
c.1123A>G (p.Thr375Ala)
c.1433A>G (p.Asn478Ser)
17g.58273627T>GCA400370442MPOn.741A>C
c.533A>C (p.Asn178Thr)
n.448A>C
c.1408A>C (p.Thr470Pro)
c.1594A>C (p.Thr532Pro)
c.1123A>C (p.Thr375Pro)
c.1433A>C (p.Asn478Thr)
17g.58273628T>ACA501023507MPOn.740A>T
c.532A>T (p.Asn178Tyr)
n.447A>T
c.1407A>T (p.Pro469=)
c.1593A>T (p.Pro531=)
c.1122A>T (p.Pro374=)
c.1432A>T (p.Asn478Tyr)
17g.58273628T>CCA501023512MPOn.740A>G
c.532A>G (p.Asn178Asp)
n.447A>G
c.1407A>G (p.Pro469=)
c.1593A>G (p.Pro531=)
c.1122A>G (p.Pro374=)
c.1432A>G (p.Asn478Asp)
gnomAD v4
17g.58273628T>GCA501023509MPOn.740A>C
c.532A>C (p.Asn178His)
n.447A>C
c.1407A>C (p.Pro469=)
c.1593A>C (p.Pro531=)
c.1122A>C (p.Pro374=)
c.1432A>C (p.Asn478His)
17g.58273629G>ACA400370445MPOn.739C>T
c.531C>T (p.Ala177=)
n.446C>T
c.1406C>T (p.Pro469Leu)
c.1592C>T (p.Pro531Leu)
c.1121C>T (p.Pro374Leu)
c.1431C>T (p.Ala477=)
17g.58273629G>CCA400370447MPOn.739C>G
c.531C>G (p.Ala177=)
n.446C>G
c.1406C>G (p.Pro469Arg)
c.1592C>G (p.Pro531Arg)
c.1121C>G (p.Pro374Arg)
c.1431C>G (p.Ala477=)
17g.58273629G>TCA400370449MPOn.739C>A
c.531C>A (p.Ala177=)
n.446C>A
c.1406C>A (p.Pro469Gln)
c.1592C>A (p.Pro531Gln)
c.1121C>A (p.Pro374Gln)
c.1431C>A (p.Ala477=)
17g.58273630G>ACA400370450MPOn.738C>T
c.530C>T (p.Ala177Val)
n.445C>T
c.1405C>T (p.Pro469Ser)
c.1591C>T (p.Pro531Ser)
c.1120C>T (p.Pro374Ser)
c.1430C>T (p.Ala477Val)
17g.58273630G>CCA400370452MPOn.738C>G
c.530C>G (p.Ala177Gly)
n.445C>G
c.1405C>G (p.Pro469Ala)
c.1591C>G (p.Pro531Ala)
c.1120C>G (p.Pro374Ala)
c.1430C>G (p.Ala477Gly)
17g.58273630G>TCA400370453MPOn.738C>A
c.530C>A (p.Ala177Asp)
n.445C>A
c.1405C>A (p.Pro469Thr)
c.1591C>A (p.Pro531Thr)
c.1120C>A (p.Pro374Thr)
c.1430C>A (p.Ala477Asp)
17g.58273631C>ACA501023525MPOn.737G>T
c.529G>T (p.Ala177Ser)
n.444G>T
c.1404G>T (p.Gly468=)
c.1590G>T (p.Gly530=)
c.1119G>T (p.Gly373=)
c.1429G>T (p.Ala477Ser)
gnomAD v4
17g.58273631C=CA2267631348MPOn.737G=
c.529G= (p.Ala177=)
n.444G=
c.1404G= (p.Gly468=)
c.1590G= (p.Gly530=)
c.1119G= (p.Gly373=)
c.1429G= (p.Ala477=)
17g.58273631C>GCA501023526MPOn.737G>C
c.529G>C (p.Ala177Pro)
n.444G>C
c.1404G>C (p.Gly468=)
c.1590G>C (p.Gly530=)
c.1119G>C (p.Gly373=)
c.1429G>C (p.Ala477Pro)
17g.58273631C>TCA501023528MPOn.737G>A
c.529G>A (p.Ala177Thr)
n.444G>A
c.1404G>A (p.Gly468=)
c.1590G>A (p.Gly530=)
c.1119G>A (p.Gly373=)
c.1429G>A (p.Ala477Thr)
dbSNP gnomAD v2 gnomAD v4
17g.58273634delCA2513739294MPOn.737del
c.529del (p.Ala177ProfsTer?)
n.444del
c.1404del (p.Pro469GlnfsTer4)
c.1590del (p.Pro531GlnfsTer4)
c.1119del (p.Pro374GlnfsTer4)
c.1429del (p.Ala477ProfsTer?)
dbSNP
17g.58273632C>ACA400370457MPOn.736G>T
c.528G>T (p.Gly176=)
n.443G>T
c.1403G>T (p.Gly468Val)
c.1589G>T (p.Gly530Val)
c.1118G>T (p.Gly373Val)
c.1428G>T (p.Gly476=)
17g.58273632C>GCA400370458MPOn.736G>C
c.528G>C (p.Gly176=)
n.443G>C
c.1403G>C (p.Gly468Ala)
c.1589G>C (p.Gly530Ala)
c.1118G>C (p.Gly373Ala)
c.1428G>C (p.Gly476=)
17g.58273632C>TCA400370455MPOn.736G>A
c.528G>A (p.Gly176=)
n.443G>A
c.1403G>A (p.Gly468Glu)
c.1589G>A (p.Gly530Glu)
c.1118G>A (p.Gly373Glu)
c.1428G>A (p.Gly476=)
17g.58273633C>ACA400370462MPOn.735G>T
c.527G>T (p.Gly176Val)
n.442G>T
c.1402G>T (p.Gly468Trp)
c.1588G>T (p.Gly530Trp)
c.1117G>T (p.Gly373Trp)
c.1427G>T (p.Gly476Val)
17g.58273633C>GCA400370460MPOn.735G>C
c.527G>C (p.Gly176Ala)
n.442G>C
c.1402G>C (p.Gly468Arg)
c.1588G>C (p.Gly530Arg)
c.1117G>C (p.Gly373Arg)
c.1427G>C (p.Gly476Ala)
17g.58273633C>TCA400370464MPOn.735G>A
c.527G>A (p.Gly176Glu)
n.442G>A
c.1402G>A (p.Gly468Arg)
c.1588G>A (p.Gly530Arg)
c.1117G>A (p.Gly373Arg)
c.1427G>A (p.Gly476Glu)
gnomAD v4
17g.58273634C>ACA8670647MPOn.734G>T
c.526G>T (p.Gly176Trp)
n.441G>T
c.1401G>T (p.Leu467=)
c.1587G>T (p.Leu529=)
c.1116G>T (p.Leu372=)
c.1426G>T (p.Gly476Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273634C=CA2267631349MPOn.734G=
c.526G= (p.Gly176=)
n.441G=
c.1401G= (p.Leu467=)
c.1587G= (p.Leu529=)
c.1116G= (p.Leu372=)
c.1426G= (p.Gly476=)
17g.58273634C>GCA501023539MPOn.734G>C
c.526G>C (p.Gly176Arg)
n.441G>C
c.1401G>C (p.Leu467=)
c.1587G>C (p.Leu529=)
c.1116G>C (p.Leu372=)
c.1426G>C (p.Gly476Arg)
17g.58273634C>TCA501023543MPOn.734G>A
c.526G>A (p.Gly176Arg)
n.441G>A
c.1401G>A (p.Leu467=)
c.1587G>A (p.Leu529=)
c.1116G>A (p.Leu372=)
c.1426G>A (p.Gly476Arg)
17g.58273635A>CCA400370468MPOn.733T>G
c.525T>G (p.Ala175=)
n.440T>G
c.1400T>G (p.Leu467Arg)
c.1586T>G (p.Leu529Arg)
c.1115T>G (p.Leu372Arg)
c.1425T>G (p.Ala475=)
17g.58273635A>GCA400370466MPOn.733T>C
c.525T>C (p.Ala175=)
n.440T>C
c.1400T>C (p.Leu467Pro)
c.1586T>C (p.Leu529Pro)
c.1115T>C (p.Leu372Pro)
c.1425T>C (p.Ala475=)
17g.58273635A>TCA400370470MPOn.733T>A
c.525T>A (p.Ala175=)
n.440T>A
c.1400T>A (p.Leu467Gln)
c.1586T>A (p.Leu529Gln)
c.1115T>A (p.Leu372Gln)
c.1425T>A (p.Ala475=)
17g.58273636G>ACA501023547MPOn.732C>T
c.524C>T (p.Ala175Val)
n.439C>T
c.1399C>T (p.Leu467=)
c.1585C>T (p.Leu529=)
c.1114C>T (p.Leu372=)
c.1424C>T (p.Ala475Val)
17g.58273636G>CCA400370471MPOn.732C>G
c.524C>G (p.Ala175Gly)
n.439C>G
c.1399C>G (p.Leu467Val)
c.1585C>G (p.Leu529Val)
c.1114C>G (p.Leu372Val)
c.1424C>G (p.Ala475Gly)
17g.58273636G>TCA400370472MPOn.732C>A
c.524C>A (p.Ala175Asp)
n.439C>A
c.1399C>A (p.Leu467Met)
c.1585C>A (p.Leu529Met)
c.1114C>A (p.Leu372Met)
c.1424C>A (p.Ala475Asp)
17g.58273637C>ACA501023551MPOn.731G>T
c.523G>T (p.Ala175Ser)
n.438G>T
c.1398G>T (p.Val466=)
c.1584G>T (p.Val528=)
c.1113G>T (p.Val371=)
c.1423G>T (p.Ala475Ser)
gnomAD v4
17g.58273637C>GCA501023554MPOn.731G>C
c.523G>C (p.Ala175Pro)
n.438G>C
c.1398G>C (p.Val466=)
c.1584G>C (p.Val528=)
c.1113G>C (p.Val371=)
c.1423G>C (p.Ala475Pro)
17g.58273637C>TCA501023557MPOn.731G>A
c.523G>A (p.Ala175Thr)
n.438G>A
c.1398G>A (p.Val466=)
c.1584G>A (p.Val528=)
c.1113G>A (p.Val371=)
c.1423G>A (p.Ala475Thr)
17g.58273638A>CCA400370474MPOn.730T>G
c.522T>G (p.Gly174=)
n.437T>G
c.1397T>G (p.Val466Gly)
c.1583T>G (p.Val528Gly)
c.1112T>G (p.Val371Gly)
c.1422T>G (p.Gly474=)
17g.58273638A>GCA400370476MPOn.730T>C
c.522T>C (p.Gly174=)
n.437T>C
c.1397T>C (p.Val466Ala)
c.1583T>C (p.Val528Ala)
c.1112T>C (p.Val371Ala)
c.1422T>C (p.Gly474=)
17g.58273638A>TCA400370478MPOn.730T>A
c.522T>A (p.Gly174=)
n.437T>A
c.1397T>A (p.Val466Glu)
c.1583T>A (p.Val528Glu)
c.1112T>A (p.Val371Glu)
c.1422T>A (p.Gly474=)
17g.58273639C>ACA400370479MPOn.729G>T
c.521G>T (p.Gly174Val)
n.436G>T
c.1396G>T (p.Val466Leu)
c.1582G>T (p.Val528Leu)
c.1111G>T (p.Val371Leu)
c.1421G>T (p.Gly474Val)
17g.58273639C>GCA400370480MPOn.729G>C
c.521G>C (p.Gly174Ala)
n.436G>C
c.1396G>C (p.Val466Leu)
c.1582G>C (p.Val528Leu)
c.1111G>C (p.Val371Leu)
c.1421G>C (p.Gly474Ala)
17g.58273639C>TCA400370481MPOn.729G>A
c.521G>A (p.Gly174Asp)
n.436G>A
c.1396G>A (p.Val466Met)
c.1582G>A (p.Val528Met)
c.1111G>A (p.Val371Met)
c.1421G>A (p.Gly474Asp)
gnomAD v4
17g.58273640C>ACA501023560MPOn.728G>T
c.520G>T (p.Gly174Cys)
n.435G>T
c.1395G>T (p.Leu465=)
c.1581G>T (p.Leu527=)
c.1110G>T (p.Leu370=)
c.1420G>T (p.Gly474Cys)
dbSNP gnomAD v4
17g.58273640C=CA2267631351MPOn.728G=
c.520G= (p.Gly174=)
n.435G=
c.1395G= (p.Leu465=)
c.1581G= (p.Leu527=)
c.1110G= (p.Leu370=)
c.1420G= (p.Gly474=)
17g.58273640C>GCA501023561MPOn.728G>C
c.520G>C (p.Gly174Arg)
n.435G>C
c.1395G>C (p.Leu465=)
c.1581G>C (p.Leu527=)
c.1110G>C (p.Leu370=)
c.1420G>C (p.Gly474Arg)
17g.58273640C>TCA501023564MPOn.728G>A
c.520G>A (p.Gly174Ser)
n.435G>A
c.1395G>A (p.Leu465=)
c.1581G>A (p.Leu527=)
c.1110G>A (p.Leu370=)
c.1420G>A (p.Gly474Ser)
gnomAD v4
17g.58273640_58273641delinsCACA2267631350MPOn.727_728delinsTG
c.519_520delinsTG (p.Pro173=)
n.434_435delinsTG
c.1394_1395delinsTG (p.Leu465=)
c.1580_1581delinsTG (p.Leu527=)
c.1109_1110delinsTG (p.Leu370=)
c.1419_1420delinsTG (p.Pro473=)
17g.58273641delCA626724238MPOn.727del
c.519del (p.Gly174ValfsTer?)
n.434del
c.1394del (p.Leu465ArgfsTer8)
c.1580del (p.Leu527ArgfsTer8)
c.1109del (p.Leu370ArgfsTer8)
c.1419del (p.Gly474ValfsTer?)
dbSNP gnomAD v2 gnomAD v4
17g.58273641A=CA2267631352MPOn.727T=
c.519T= (p.Pro173=)
n.434T=
c.1394T= (p.Leu465=)
c.1580T= (p.Leu527=)
c.1109T= (p.Leu370=)
c.1419T= (p.Pro473=)
17g.58273641A>CCA400370482MPOn.727T>G
c.519T>G (p.Pro173=)
n.434T>G
c.1394T>G (p.Leu465Arg)
c.1580T>G (p.Leu527Arg)
c.1109T>G (p.Leu370Arg)
c.1419T>G (p.Pro473=)
dbSNP gnomAD v2
17g.58273641A>GCA400370483MPOn.727T>C
c.519T>C (p.Pro173=)
n.434T>C
c.1394T>C (p.Leu465Pro)
c.1580T>C (p.Leu527Pro)
c.1109T>C (p.Leu370Pro)
c.1419T>C (p.Pro473=)
17g.58273641A>TCA400370485MPOn.727T>A
c.519T>A (p.Pro173=)
n.434T>A
c.1394T>A (p.Leu465Gln)
c.1580T>A (p.Leu527Gln)
c.1109T>A (p.Leu370Gln)
c.1419T>A (p.Pro473=)
17g.58273642G>ACA501023572MPOn.726C>T
c.518C>T (p.Pro173Leu)
n.433C>T
c.1393C>T (p.Leu465=)
c.1579C>T (p.Leu527=)
c.1108C>T (p.Leu370=)
c.1418C>T (p.Pro473Leu)
17g.58273642G>CCA400370486MPOn.726C>G
c.518C>G (p.Pro173Arg)
n.433C>G
c.1393C>G (p.Leu465Val)
c.1579C>G (p.Leu527Val)
c.1108C>G (p.Leu370Val)
c.1418C>G (p.Pro473Arg)
17g.58273642G>TCA400370488MPOn.726C>A
c.518C>A (p.Pro173His)
n.433C>A
c.1393C>A (p.Leu465Met)
c.1579C>A (p.Leu527Met)
c.1108C>A (p.Leu370Met)
c.1418C>A (p.Pro473His)
17g.58273643G>ACA501023579MPOn.725C>T
c.517C>T (p.Pro173Ser)
n.432C>T
c.1392C>T (p.Pro464=)
c.1578C>T (p.Pro526=)
c.1107C>T (p.Pro369=)
c.1417C>T (p.Pro473Ser)
dbSNP gnomAD v4
17g.58273643G>CCA501023581MPOn.725C>G
c.517C>G (p.Pro173Ala)
n.432C>G
c.1392C>G (p.Pro464=)
c.1578C>G (p.Pro526=)
c.1107C>G (p.Pro369=)
c.1417C>G (p.Pro473Ala)
17g.58273643G>TCA501023585MPOn.725C>A
c.517C>A (p.Pro173Thr)
n.432C>A
c.1392C>A (p.Pro464=)
c.1578C>A (p.Pro526=)
c.1107C>A (p.Pro369=)
c.1417C>A (p.Pro473Thr)
17g.58273644G>ACA400370491MPOn.724C>T
c.516C>T (p.Ala172=)
n.431C>T
c.1391C>T (p.Pro464Leu)
c.1577C>T (p.Pro526Leu)
c.1106C>T (p.Pro369Leu)
c.1416C>T (p.Ala472=)
gnomAD v4
17g.58273644G>CCA400370489MPOn.724C>G
c.516C>G (p.Ala172=)
n.431C>G
c.1391C>G (p.Pro464Arg)
c.1577C>G (p.Pro526Arg)
c.1106C>G (p.Pro369Arg)
c.1416C>G (p.Ala472=)
17g.58273644G>TCA400370490MPOn.724C>A
c.516C>A (p.Ala172=)
n.431C>A
c.1391C>A (p.Pro464His)
c.1577C>A (p.Pro526His)
c.1106C>A (p.Pro369His)
c.1416C>A (p.Ala472=)
17g.58273645G>ACA8670648MPOn.723C>T
c.515C>T (p.Ala172Val)
n.430C>T
c.1390C>T (p.Pro464Ser)
c.1576C>T (p.Pro526Ser)
c.1105C>T (p.Pro369Ser)
c.1415C>T (p.Ala472Val)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273645G>CCA400370493MPOn.723C>G
c.515C>G (p.Ala172Gly)
n.430C>G
c.1390C>G (p.Pro464Ala)
c.1576C>G (p.Pro526Ala)
c.1105C>G (p.Pro369Ala)
c.1415C>G (p.Ala472Gly)
17g.58273645G=CA2267631353MPOn.723C=
c.515C= (p.Ala172=)
n.430C=
c.1390C= (p.Pro464=)
c.1576C= (p.Pro526=)
c.1105C= (p.Pro369=)
c.1415C= (p.Ala472=)
17g.58273645G>TCA400370494MPOn.723C>A
c.515C>A (p.Ala172Asp)
n.430C>A
c.1390C>A (p.Pro464Thr)
c.1576C>A (p.Pro526Thr)
c.1105C>A (p.Pro369Thr)
c.1415C>A (p.Ala472Asp)
17g.58273646C>ACA501023603MPOn.722G>T
c.514G>T (p.Ala172Ser)
n.429G>T
c.1389G>T (p.Leu463=)
c.1575G>T (p.Leu525=)
c.1104G>T (p.Leu368=)
c.1414G>T (p.Ala472Ser)
17g.58273646C>GCA501023604MPOn.722G>C
c.514G>C (p.Ala172Pro)
n.429G>C
c.1389G>C (p.Leu463=)
c.1575G>C (p.Leu525=)
c.1104G>C (p.Leu368=)
c.1414G>C (p.Ala472Pro)
17g.58273646C>TCA501023607MPOn.722G>A
c.514G>A (p.Ala172Thr)
n.429G>A
c.1389G>A (p.Leu463=)
c.1575G>A (p.Leu525=)
c.1104G>A (p.Leu368=)
c.1414G>A (p.Ala472Thr)
17g.58273647A>CCA400370495MPOn.721T>G
c.513T>G (p.Pro171=)
n.428T>G
c.1388T>G (p.Leu463Arg)
c.1574T>G (p.Leu525Arg)
c.1103T>G (p.Leu368Arg)
c.1413T>G (p.Pro471=)
17g.58273647A>GCA400370496MPOn.721T>C
c.513T>C (p.Pro171=)
n.428T>C
c.1388T>C (p.Leu463Pro)
c.1574T>C (p.Leu525Pro)
c.1103T>C (p.Leu368Pro)
c.1413T>C (p.Pro471=)
17g.58273647A>TCA400370498MPOn.721T>A
c.513T>A (p.Pro171=)
n.428T>A
c.1388T>A (p.Leu463Gln)
c.1574T>A (p.Leu525Gln)
c.1103T>A (p.Leu368Gln)
c.1413T>A (p.Pro471=)
17g.58273648G>ACA501023616MPOn.720C>T
c.512C>T (p.Pro171Leu)
n.427C>T
c.1387C>T (p.Leu463=)
c.1573C>T (p.Leu525=)
c.1102C>T (p.Leu368=)
c.1412C>T (p.Pro471Leu)
COSMIC COSMIC
17g.58273648G>CCA292012411MPOn.720C>G
c.512C>G (p.Pro171Arg)
n.427C>G
c.1387C>G (p.Leu463Val)
c.1573C>G (p.Leu525Val)
c.1102C>G (p.Leu368Val)
c.1412C>G (p.Pro471Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273648G=CA2267631354MPOn.720C=
c.512C= (p.Pro171=)
n.427C=
c.1387C= (p.Leu463=)
c.1573C= (p.Leu525=)
c.1102C= (p.Leu368=)
c.1412C= (p.Pro471=)
17g.58273648G>TCA400370501MPOn.720C>A
c.512C>A (p.Pro171His)
n.427C>A
c.1387C>A (p.Leu463Met)
c.1573C>A (p.Leu525Met)
c.1102C>A (p.Leu368Met)
c.1412C>A (p.Pro471His)
gnomAD v4
17g.58273649G>ACA501023623MPOn.719C>T
c.511C>T (p.Pro171Ser)
n.426C>T
c.1386C>T (p.Tyr462=)
c.1572C>T (p.Tyr524=)
c.1101C>T (p.Tyr367=)
c.1411C>T (p.Pro471Ser)
gnomAD v4
17g.58273649G>CCA400370502MPOn.719C>G
c.511C>G (p.Pro171Ala)
n.426C>G
c.1386C>G (p.Tyr462Ter)
c.1572C>G (p.Tyr524Ter)
c.1101C>G (p.Tyr367Ter)
c.1411C>G (p.Pro471Ala)
17g.58273649G>TCA400370503MPOn.719C>A
c.511C>A (p.Pro171Thr)
n.426C>A
c.1386C>A (p.Tyr462Ter)
c.1572C>A (p.Tyr524Ter)
c.1101C>A (p.Tyr367Ter)
c.1411C>A (p.Pro471Thr)
17g.58273650T>ACA400370507MPOn.718A>T
c.510A>T (p.Leu170=)
n.425A>T
c.1385A>T (p.Tyr462Phe)
c.1571A>T (p.Tyr524Phe)
c.1100A>T (p.Tyr367Phe)
c.1410A>T (p.Leu470=)
17g.58273650T>CCA400370509MPOn.718A>G
c.510A>G (p.Leu170=)
n.425A>G
c.1385A>G (p.Tyr462Cys)
c.1571A>G (p.Tyr524Cys)
c.1100A>G (p.Tyr367Cys)
c.1410A>G (p.Leu470=)
17g.58273650T>GCA400370506MPOn.718A>C
c.510A>C (p.Leu170=)
n.425A>C
c.1385A>C (p.Tyr462Ser)
c.1571A>C (p.Tyr524Ser)
c.1100A>C (p.Tyr367Ser)
c.1410A>C (p.Leu470=)
dbSNP
17g.58273650T=CA2267631355MPOn.718A=
c.510A= (p.Leu170=)
n.425A=
c.1385A= (p.Tyr462=)
c.1571A= (p.Tyr524=)
c.1100A= (p.Tyr367=)
c.1410A= (p.Leu470=)
17g.58273651A=CA2267631356MPOn.717T=
c.509T= (p.Leu170=)
n.424T=
c.1384T= (p.Tyr462=)
c.1570T= (p.Tyr524=)
c.1099T= (p.Tyr367=)
c.1409T= (p.Leu470=)
17g.58273651A>CCA400370510MPOn.717T>G
c.509T>G (p.Leu170Arg)
n.424T>G
c.1384T>G (p.Tyr462Asp)
c.1570T>G (p.Tyr524Asp)
c.1099T>G (p.Tyr367Asp)
c.1409T>G (p.Leu470Arg)
17g.58273651A>GCA400370511MPOn.717T>C
c.509T>C (p.Leu170Pro)
n.424T>C
c.1384T>C (p.Tyr462His)
c.1570T>C (p.Tyr524His)
c.1099T>C (p.Tyr367His)
c.1409T>C (p.Leu470Pro)
dbSNP gnomAD v3 gnomAD v4
17g.58273651A>TCA400370512MPOn.717T>A
c.509T>A (p.Leu170Gln)
n.424T>A
c.1384T>A (p.Tyr462Asn)
c.1570T>A (p.Tyr524Asn)
c.1099T>A (p.Tyr367Asn)
c.1409T>A (p.Leu470Gln)
17g.58273652G>ACA501023637MPOn.716C>T
c.508C>T (p.Leu170=)
n.423C>T
c.1383C>T (p.Asp461=)
c.1569C>T (p.Asp523=)
c.1098C>T (p.Asp366=)
c.1408C>T (p.Leu470=)
17g.58273652G>CCA400370514MPOn.716C>G
c.508C>G (p.Leu170Val)
n.423C>G
c.1383C>G (p.Asp461Glu)
c.1569C>G (p.Asp523Glu)
c.1098C>G (p.Asp366Glu)
c.1408C>G (p.Leu470Val)
17g.58273652G>TCA400370516MPOn.716C>A
c.508C>A (p.Leu170Ile)
n.423C>A
c.1383C>A (p.Asp461Glu)
c.1569C>A (p.Asp523Glu)
c.1098C>A (p.Asp366Glu)
c.1408C>A (p.Leu470Ile)
17g.58273653T>ACA400370518MPOn.715A>T
c.507A>T (p.Gly169=)
n.422A>T
c.1382A>T (p.Asp461Val)
c.1568A>T (p.Asp523Val)
c.1097A>T (p.Asp366Val)
c.1407A>T (p.Gly469=)
17g.58273653T>CCA400370519MPOn.715A>G
c.507A>G (p.Gly169=)
n.422A>G
c.1382A>G (p.Asp461Gly)
c.1568A>G (p.Asp523Gly)
c.1097A>G (p.Asp366Gly)
c.1407A>G (p.Gly469=)
COSMIC COSMIC
17g.58273653T>GCA400370521MPOn.715A>C
c.507A>C (p.Gly169=)
n.422A>C
c.1382A>C (p.Asp461Ala)
c.1568A>C (p.Asp523Ala)
c.1097A>C (p.Asp366Ala)
c.1407A>C (p.Gly469=)
17g.58273654C>ACA400370523MPOn.714G>T
c.506G>T (p.Gly169Val)
n.421G>T
c.1381G>T (p.Asp461Tyr)
c.1567G>T (p.Asp523Tyr)
c.1096G>T (p.Asp366Tyr)
c.1406G>T (p.Gly469Val)
17g.58273654C=CA2267631357MPOn.714G=
c.506G= (p.Gly169=)
n.421G=
c.1381G= (p.Asp461=)
c.1567G= (p.Asp523=)
c.1096G= (p.Asp366=)
c.1406G= (p.Gly469=)
17g.58273654C>GCA400370524MPOn.714G>C
c.506G>C (p.Gly169Ala)
n.421G>C
c.1381G>C (p.Asp461His)
c.1567G>C (p.Asp523His)
c.1096G>C (p.Asp366His)
c.1406G>C (p.Gly469Ala)
17g.58273654C>TCA400370525MPOn.714G>A
c.506G>A (p.Gly169Glu)
n.421G>A
c.1381G>A (p.Asp461Asn)
c.1567G>A (p.Asp523Asn)
c.1096G>A (p.Asp366Asn)
c.1406G>A (p.Gly469Glu)
dbSNP gnomAD v4
17g.58273655C>ACA501023655MPOn.713G>T
c.505G>T (p.Gly169Ter)
n.420G>T
c.1380G>T (p.Arg460=)
c.1566G>T (p.Arg522=)
c.1095G>T (p.Arg365=)
c.1405G>T (p.Gly469Ter)
17g.58273655C>GCA501023659MPOn.713G>C
c.505G>C (p.Gly169Arg)
n.420G>C
c.1380G>C (p.Arg460=)
c.1566G>C (p.Arg522=)
c.1095G>C (p.Arg365=)
c.1405G>C (p.Gly469Arg)
17g.58273655C>TCA501023653MPOn.713G>A
c.505G>A (p.Gly169Arg)
n.420G>A
c.1380G>A (p.Arg460=)
c.1566G>A (p.Arg522=)
c.1095G>A (p.Arg365=)
c.1405G>A (p.Gly469Arg)
17g.58273656C>ACA400370527MPOn.712G>T
c.504G>T (p.Pro168=)
n.419G>T
c.1379G>T (p.Arg460Leu)
c.1565G>T (p.Arg522Leu)
c.1094G>T (p.Arg365Leu)
c.1404G>T (p.Pro468=)
COSMIC COSMIC
17g.58273656C=CA2267631358MPOn.712G=
c.504G= (p.Pro168=)
n.419G=
c.1379G= (p.Arg460=)
c.1565G= (p.Arg522=)
c.1094G= (p.Arg365=)
c.1404G= (p.Pro468=)
17g.58273656C>GCA400370529MPOn.712G>C
c.504G>C (p.Pro168=)
n.419G>C
c.1379G>C (p.Arg460Pro)
c.1565G>C (p.Arg522Pro)
c.1094G>C (p.Arg365Pro)
c.1404G>C (p.Pro468=)
17g.58273656C>TCA8670649MPOn.712G>A
c.504G>A (p.Pro168=)
n.419G>A
c.1379G>A (p.Arg460Gln)
c.1565G>A (p.Arg522Gln)
c.1094G>A (p.Arg365Gln)
c.1404G>A (p.Pro468=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273657G>ACA292012412MPOn.711C>T
c.503C>T (p.Pro168Leu)
n.418C>T
c.1378C>T (p.Arg460Trp)
c.1564C>T (p.Arg522Trp)
c.1093C>T (p.Arg365Trp)
c.1403C>T (p.Pro468Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273657G>CCA400370531MPOn.711C>G
c.503C>G (p.Pro168Arg)
n.418C>G
c.1378C>G (p.Arg460Gly)
c.1564C>G (p.Arg522Gly)
c.1093C>G (p.Arg365Gly)
c.1403C>G (p.Pro468Arg)
17g.58273657G=CA2267631359MPOn.711C=
c.503C= (p.Pro168=)
n.418C=
c.1378C= (p.Arg460=)
c.1564C= (p.Arg522=)
c.1093C= (p.Arg365=)
c.1403C= (p.Pro468=)
17g.58273657G>TCA501023669MPOn.711C>A
c.503C>A (p.Pro168Gln)
n.418C>A
c.1378C>A (p.Arg460=)
c.1564C>A (p.Arg522=)
c.1093C>A (p.Arg365=)
c.1403C>A (p.Pro468Gln)
17g.58273657_58273661delinsGGTAACA2267631360MPOn.707_711delinsTTACC
c.499_503delinsTTACC (p.Leu167=)
n.414_418delinsTTACC
c.1374_1378delinsTTACC (p.Thr458=)
c.1560_1564delinsTTACC (p.Thr520=)
c.1089_1093delinsTTACC (p.Thr363=)
c.1399_1403delinsTTACC (p.Leu467=)
17g.58273658G>ACA8670650MPOn.710C>T
c.502C>T (p.Pro168Ser)
n.417C>T
c.1377C>T (p.Tyr459=)
c.1563C>T (p.Tyr521=)
c.1092C>T (p.Tyr364=)
c.1402C>T (p.Pro468Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273658G>CCA400370532MPOn.710C>G
c.502C>G (p.Pro168Ala)
n.417C>G
c.1377C>G (p.Tyr459Ter)
c.1563C>G (p.Tyr521Ter)
c.1092C>G (p.Tyr364Ter)
c.1402C>G (p.Pro468Ala)
17g.58273658G=CA2267631361MPOn.710C=
c.502C= (p.Pro168=)
n.417C=
c.1377C= (p.Tyr459=)
c.1563C= (p.Tyr521=)
c.1092C= (p.Tyr364=)
c.1402C= (p.Pro468=)
17g.58273658G>TCA400370534MPOn.710C>A
c.502C>A (p.Pro168Thr)
n.417C>A
c.1377C>A (p.Tyr459Ter)
c.1563C>A (p.Tyr521Ter)
c.1092C>A (p.Tyr364Ter)
c.1402C>A (p.Pro468Thr)
17g.58273660_58273663delCA773481932MPOn.707_710del
c.499_502del (p.Leu167ArgfsTer?)
n.414_417del
c.1374_1377del (p.Tyr459GlyfsTer13)
c.1560_1563del (p.Tyr521GlyfsTer13)
c.1089_1092del (p.Tyr364GlyfsTer13)
c.1399_1402del (p.Leu467ArgfsTer?)
dbSNP
17g.58273659T>ACA400370538MPOn.709A>T
c.501A>T (p.Leu167Phe)
n.416A>T
c.1376A>T (p.Tyr459Phe)
c.1562A>T (p.Tyr521Phe)
c.1091A>T (p.Tyr364Phe)
c.1401A>T (p.Leu467Phe)
17g.58273659T>CCA400370536MPOn.709A>G
c.501A>G (p.Leu167=)
n.416A>G
c.1376A>G (p.Tyr459Cys)
c.1562A>G (p.Tyr521Cys)
c.1091A>G (p.Tyr364Cys)
c.1401A>G (p.Leu467=)
gnomAD v4
17g.58273659T>GCA400370537MPOn.709A>C
c.501A>C (p.Leu167Phe)
n.416A>C
c.1376A>C (p.Tyr459Ser)
c.1562A>C (p.Tyr521Ser)
c.1091A>C (p.Tyr364Ser)
c.1401A>C (p.Leu467Phe)
dbSNP
17g.58273659T=CA2267631362MPOn.709A=
c.501A= (p.Leu167=)
n.416A=
c.1376A= (p.Tyr459=)
c.1562A= (p.Tyr521=)
c.1091A= (p.Tyr364=)
c.1401A= (p.Leu467=)
17g.58273660A>CCA400370540MPOn.708T>G
c.500T>G (p.Leu167Ter)
n.415T>G
c.1375T>G (p.Tyr459Asp)
c.1561T>G (p.Tyr521Asp)
c.1090T>G (p.Tyr364Asp)
c.1400T>G (p.Leu467Ter)
17g.58273660A>GCA400370542MPOn.708T>C
c.500T>C (p.Leu167Ser)
n.415T>C
c.1375T>C (p.Tyr459His)
c.1561T>C (p.Tyr521His)
c.1090T>C (p.Tyr364His)
c.1400T>C (p.Leu467Ser)
gnomAD v4
17g.58273660A>TCA400370543MPOn.708T>A
c.500T>A (p.Leu167Ter)
n.415T>A
c.1375T>A (p.Tyr459Asn)
c.1561T>A (p.Tyr521Asn)
c.1090T>A (p.Tyr364Asn)
c.1400T>A (p.Leu467Ter)
17g.58273661A>CCA501023691MPOn.707T>G
c.499T>G (p.Leu167Val)
n.414T>G
c.1374T>G (p.Thr458=)
c.1560T>G (p.Thr520=)
c.1089T>G (p.Thr363=)
c.1399T>G (p.Leu467Val)
17g.58273661A>GCA501023696MPOn.707T>C
c.499T>C (p.Leu167=)
n.414T>C
c.1374T>C (p.Thr458=)
c.1560T>C (p.Thr520=)
c.1089T>C (p.Thr363=)
c.1399T>C (p.Leu467=)
17g.58273661A>TCA501023693MPOn.707T>A
c.499T>A (p.Leu167Ile)
n.414T>A
c.1374T>A (p.Thr458=)
c.1560T>A (p.Thr520=)
c.1089T>A (p.Thr363=)
c.1399T>A (p.Leu467Ile)
17g.58273662G>ACA400370545MPOn.706C>T
c.498C>T (p.His166=)
n.413C>T
c.1373C>T (p.Thr458Ile)
c.1559C>T (p.Thr520Ile)
c.1088C>T (p.Thr363Ile)
c.1398C>T (p.His466=)
17g.58273662G>CCA400370546MPOn.706C>G
c.498C>G (p.His166Gln)
n.413C>G
c.1373C>G (p.Thr458Ser)
c.1559C>G (p.Thr520Ser)
c.1088C>G (p.Thr363Ser)
c.1398C>G (p.His466Gln)
17g.58273662G>TCA400370548MPOn.706C>A
c.498C>A (p.His166Gln)
n.413C>A
c.1373C>A (p.Thr458Asn)
c.1559C>A (p.Thr520Asn)
c.1088C>A (p.Thr363Asn)
c.1398C>A (p.His466Gln)
17g.58273663T>ACA400370551MPOn.705A>T
c.497A>T (p.His166Leu)
n.412A>T
c.1372A>T (p.Thr458Ser)
c.1558A>T (p.Thr520Ser)
c.1087A>T (p.Thr363Ser)
c.1397A>T (p.His466Leu)
17g.58273663T>CCA400370553MPOn.705A>G
c.497A>G (p.His166Arg)
n.412A>G
c.1372A>G (p.Thr458Ala)
c.1558A>G (p.Thr520Ala)
c.1087A>G (p.Thr363Ala)
c.1397A>G (p.His466Arg)
dbSNP
17g.58273663T>GCA400370550MPOn.705A>C
c.497A>C (p.His166Pro)
n.412A>C
c.1372A>C (p.Thr458Pro)
c.1558A>C (p.Thr520Pro)
c.1087A>C (p.Thr363Pro)
c.1397A>C (p.His466Pro)
17g.58273663T=CA2267631363MPOn.705A=
c.497A= (p.His166=)
n.412A=
c.1372A= (p.Thr458=)
c.1558A= (p.Thr520=)
c.1087A= (p.Thr363=)
c.1397A= (p.His466=)
17g.58273664G>ACA8670651MPOn.704C>T
c.496C>T (p.His166Tyr)
n.411C>T
c.1371C>T (p.Ile457=)
c.1557C>T (p.Ile519=)
c.1086C>T (p.Ile362=)
c.1396C>T (p.His466Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.58273664G>CCA400370554MPOn.704C>G
c.496C>G (p.His166Asp)
n.411C>G
c.1371C>G (p.Ile457Met)
c.1557C>G (p.Ile519Met)
c.1086C>G (p.Ile362Met)
c.1396C>G (p.His466Asp)
17g.58273664G=CA2267631364MPOn.704C=
c.496C= (p.His166=)
n.411C=
c.1371C= (p.Ile457=)
c.1557C= (p.Ile519=)
c.1086C= (p.Ile362=)
c.1396C= (p.His466=)
17g.58273664G>TCA501023717MPOn.704C>A
c.496C>A (p.His166Asn)
n.411C>A
c.1371C>A (p.Ile457=)
c.1557C>A (p.Ile519=)
c.1086C>A (p.Ile362=)
c.1396C>A (p.His466Asn)
17g.58273665A>CCA400370555MPOn.703T>G
c.495T>G (p.His165Gln)
n.410T>G
c.1370T>G (p.Ile457Ser)
c.1556T>G (p.Ile519Ser)
c.1085T>G (p.Ile362Ser)
c.1395T>G (p.His465Gln)
17g.58273665A>GCA400370556MPOn.703T>C
c.495T>C (p.His165=)
n.410T>C
c.1370T>C (p.Ile457Thr)
c.1556T>C (p.Ile519Thr)
c.1085T>C (p.Ile362Thr)
c.1395T>C (p.His465=)
17g.58273665A>TCA400370557MPOn.703T>A
c.495T>A (p.His165Gln)
n.410T>A
c.1370T>A (p.Ile457Asn)
c.1556T>A (p.Ile519Asn)
c.1085T>A (p.Ile362Asn)
c.1395T>A (p.His465Gln)
17g.58273666T>ACA400370558MPOn.702A>T
c.494A>T (p.His165Leu)
n.409A>T
c.1369A>T (p.Ile457Phe)
c.1555A>T (p.Ile519Phe)
c.1084A>T (p.Ile362Phe)
c.1394A>T (p.His465Leu)
17g.58273666T>CCA400370559MPOn.702A>G
c.494A>G (p.His165Arg)
n.409A>G
c.1369A>G (p.Ile457Val)
c.1555A>G (p.Ile519Val)
c.1084A>G (p.Ile362Val)
c.1394A>G (p.His465Arg)
dbSNP gnomAD v4
17g.58273666T>GCA400370560MPOn.702A>C
c.494A>C (p.His165Pro)
n.409A>C
c.1369A>C (p.Ile457Leu)
c.1555A>C (p.Ile519Leu)
c.1084A>C (p.Ile362Leu)
c.1394A>C (p.His465Pro)
gnomAD v4
17g.58273666T=CA2267631365MPOn.702A=
c.494A= (p.His165=)
n.409A=
c.1369A= (p.Ile457=)
c.1555A= (p.Ile519=)
c.1084A= (p.Ile362=)
c.1394A= (p.His465=)
17g.58273667G>ACA501023742MPOn.701C>T
c.493C>T (p.His165Tyr)
n.408C>T
c.1368C>T (p.Ile456=)
c.1554C>T (p.Ile518=)
c.1083C>T (p.Ile361=)
c.1393C>T (p.His465Tyr)
17g.58273667G>CCA400370561MPOn.701C>G
c.493C>G (p.His165Asp)
n.408C>G
c.1368C>G (p.Ile456Met)
c.1554C>G (p.Ile518Met)
c.1083C>G (p.Ile361Met)
c.1393C>G (p.His465Asp)
17g.58273667G=CA2267631366MPOn.701C=
c.493C= (p.His165=)
n.408C=
c.1368C= (p.Ile456=)
c.1554C= (p.Ile518=)
c.1083C= (p.Ile361=)
c.1393C= (p.His465=)
17g.58273667G>TCA8670652MPOn.701C>A
c.493C>A (p.His165Asn)
n.408C>A
c.1368C>A (p.Ile456=)
c.1554C>A (p.Ile518=)
c.1083C>A (p.Ile361=)
c.1393C>A (p.His465Asn)
dbSNP ExAC gnomAD v2
17g.58273668A=CA2267631367MPOn.700T=
c.492T= (p.Asp164=)
n.407T=
c.1367T= (p.Ile456=)
c.1553T= (p.Ile518=)
c.1082T= (p.Ile361=)
c.1392T= (p.Asp464=)
17g.58273668A>CCA400370562MPOn.700T>G
c.492T>G (p.Asp164Glu)
n.407T>G
c.1367T>G (p.Ile456Ser)
c.1553T>G (p.Ile518Ser)
c.1082T>G (p.Ile361Ser)
c.1392T>G (p.Asp464Glu)
17g.58273668A>GCA8670653MPOn.700T>C
c.492T>C (p.Asp164=)
n.407T>C
c.1367T>C (p.Ile456Thr)
c.1553T>C (p.Ile518Thr)
c.1082T>C (p.Ile361Thr)
c.1392T>C (p.Asp464=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273668A>TCA400370563MPOn.700T>A
c.492T>A (p.Asp164Glu)
n.407T>A
c.1367T>A (p.Ile456Asn)
c.1553T>A (p.Ile518Asn)
c.1082T>A (p.Ile361Asn)
c.1392T>A (p.Asp464Glu)
17g.58273669T>ACA400370566MPOn.699A>T
c.491A>T (p.Asp164Val)
n.406A>T
c.1366A>T (p.Ile456Phe)
c.1552A>T (p.Ile518Phe)
c.1081A>T (p.Ile361Phe)
c.1391A>T (p.Asp464Val)
17g.58273669T>CCA400370565MPOn.699A>G
c.491A>G (p.Asp164Gly)
n.406A>G
c.1366A>G (p.Ile456Val)
c.1552A>G (p.Ile518Val)
c.1081A>G (p.Ile361Val)
c.1391A>G (p.Asp464Gly)
17g.58273669T>GCA400370564MPOn.699A>C
c.491A>C (p.Asp164Ala)
n.406A>C
c.1366A>C (p.Ile456Leu)
c.1552A>C (p.Ile518Leu)
c.1081A>C (p.Ile361Leu)
c.1391A>C (p.Asp464Ala)
17g.58273669T=CA2267631368MPOn.699A=
c.491A= (p.Asp164=)
n.406A=
c.1366A= (p.Ile456=)
c.1552A= (p.Ile518=)
c.1081A= (p.Ile361=)
c.1391A= (p.Asp464=)
17g.58273669_58273670insTGTCCA2267631369MPOn.699-1_699insGACA
c.491-1_491insGACA (n.491-1_491insGACA)
n.405_406insGACA
c.1366-1_1366insGACA (n.1366-1_1366insGACA)
c.1552-1_1552insGACA (n.1552-1_1552insGACA)
c.1081-1_1081insGACA (n.1081-1_1081insGACA)
c.1391-1_1391insGACA (n.1391-1_1391insGACA)
dbSNP
17g.58273670C>ACA400370567MPOn.699-1G>T
c.491-1G>T (n.491-1G>T)
n.405G>T
c.1366-1G>T (n.1366-1G>T)
c.1552-1G>T (n.1552-1G>T)
c.1081-1G>T (n.1081-1G>T)
c.1391-1G>T (n.1391-1G>T)
17g.58273670C>GCA400370568MPOn.699-1G>C
c.491-1G>C (n.491-1G>C)
n.405G>C
c.1366-1G>C (n.1366-1G>C)
c.1552-1G>C (n.1552-1G>C)
c.1081-1G>C (n.1081-1G>C)
c.1391-1G>C (n.1391-1G>C)
17g.58273670C>TCA400370569MPOn.699-1G>A
c.491-1G>A (n.491-1G>A)
n.405G>A
c.1366-1G>A (n.1366-1G>A)
c.1552-1G>A (n.1552-1G>A)
c.1081-1G>A (n.1081-1G>A)
c.1391-1G>A (n.1391-1G>A)
17g.58273670_58273672delinsCTACA2267631370MPOn.699-3_699-1delinsTAG
c.491-3_491-1delinsTAG (n.491-3_491-1delinsTAG)
n.403_405delinsTAG
c.1366-3_1366-1delinsTAG (n.1366-3_1366-1delinsTAG)
c.1552-3_1552-1delinsTAG (n.1552-3_1552-1delinsTAG)
c.1081-3_1081-1delinsTAG (n.1081-3_1081-1delinsTAG)
c.1391-3_1391-1delinsTAG (n.1391-3_1391-1delinsTAG)
17g.58273671T>ACA400370570MPOn.699-2A>T
c.491-2A>T (n.491-2A>T)
n.404A>T
c.1366-2A>T (n.1366-2A>T)
c.1552-2A>T (n.1552-2A>T)
c.1081-2A>T (n.1081-2A>T)
c.1391-2A>T (n.1391-2A>T)
17g.58273671T>CCA400370571MPOn.699-2A>G
c.491-2A>G (n.491-2A>G)
n.404A>G
c.1366-2A>G (n.1366-2A>G)
c.1552-2A>G (n.1552-2A>G)
c.1081-2A>G (n.1081-2A>G)
c.1391-2A>G (n.1391-2A>G)
17g.58273671T>GCA400370572MPOn.699-2A>C
c.491-2A>C (n.491-2A>C)
n.404A>C
c.1366-2A>C (n.1366-2A>C)
c.1552-2A>C (n.1552-2A>C)
c.1081-2A>C (n.1081-2A>C)
c.1391-2A>C (n.1391-2A>C)
17g.58273671_58273672delCA2267631371MPOn.699-3_699-2del
c.491-3_491-2del (n.491-3_491-2del)
n.403_404del
c.1366-3_1366-2del (n.1366-3_1366-2del)
c.1552-3_1552-2del (n.1552-3_1552-2del)
c.1081-3_1081-2del (n.1081-3_1081-2del)
c.1391-3_1391-2del (n.1391-3_1391-2del)
dbSNP
17g.58273672A=CA2267631372MPOn.699-3T=
c.491-3T= (n.491-3T=)
n.403T=
c.1366-3T= (n.1366-3T=)
c.1552-3T= (n.1552-3T=)
c.1081-3T= (n.1081-3T=)
c.1391-3T= (n.1391-3T=)
17g.58273672A>GCA292012426MPOn.699-3T>C
c.491-3T>C (n.491-3T>C)
n.403T>C
c.1366-3T>C (n.1366-3T>C)
c.1552-3T>C (n.1552-3T>C)
c.1081-3T>C (n.1081-3T>C)
c.1391-3T>C (n.1391-3T>C)
dbSNP
17g.58273672A>TCA292012427MPOn.699-3T>A
c.491-3T>A (n.491-3T>A)
n.403T>A
c.1366-3T>A (n.1366-3T>A)
c.1552-3T>A (n.1552-3T>A)
c.1081-3T>A (n.1081-3T>A)
c.1391-3T>A (n.1391-3T>A)
dbSNP
17g.58273674A=CA2267631373MPOn.699-5T=
c.491-5T= (n.491-5T=)
n.401T=
c.1366-5T= (n.1366-5T=)
c.1552-5T= (n.1552-5T=)
c.1081-5T= (n.1081-5T=)
c.1391-5T= (n.1391-5T=)
17g.58273675_58273676insTGGCA2267631374MPOn.699-6_699-5insCAC
c.491-6_491-5insCAC (n.491-6_491-5insCAC)
n.400_401insCAC
c.1366-6_1366-5insCAC (n.1366-6_1366-5insCAC)
c.1552-6_1552-5insCAC (n.1552-6_1552-5insCAC)
c.1081-6_1081-5insCAC (n.1081-6_1081-5insCAC)
c.1391-6_1391-5insCAC (n.1391-6_1391-5insCAC)
dbSNP
17g.58273676A=CA2267631375MPOn.699-7T=
c.491-7T= (n.491-7T=)
n.399T=
c.1366-7T= (n.1366-7T=)
c.1552-7T= (n.1552-7T=)
c.1081-7T= (n.1081-7T=)
c.1391-7T= (n.1391-7T=)
17g.58273676A>GCA8670654MPOn.699-7T>C
c.491-7T>C (n.491-7T>C)
n.399T>C
c.1366-7T>C (n.1366-7T>C)
c.1552-7T>C (n.1552-7T>C)
c.1081-7T>C (n.1081-7T>C)
c.1391-7T>C (n.1391-7T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273677C>ACA985005725MPOn.699-8G>T
c.491-8G>T (n.491-8G>T)
n.398G>T
c.1366-8G>T (n.1366-8G>T)
c.1552-8G>T (n.1552-8G>T)
c.1081-8G>T (n.1081-8G>T)
c.1391-8G>T (n.1391-8G>T)
dbSNP gnomAD v3 gnomAD v4
17g.58273677C=CA2267631376MPOn.699-8G=
c.491-8G= (n.491-8G=)
n.398G=
c.1366-8G= (n.1366-8G=)
c.1552-8G= (n.1552-8G=)
c.1081-8G= (n.1081-8G=)
c.1391-8G= (n.1391-8G=)
17g.58273678A>GCA2638969139MPOn.699-9T>C
c.491-9T>C (n.491-9T>C)
n.397T>C
c.1366-9T>C (n.1366-9T>C)
c.1552-9T>C (n.1552-9T>C)
c.1081-9T>C (n.1081-9T>C)
c.1391-9T>C (n.1391-9T>C)
gnomAD v4
17g.58273680G>TCA656667138MPOn.699-11C>A
c.491-11C>A (n.491-11C>A)
n.395C>A
c.1366-11C>A (n.1366-11C>A)
c.1552-11C>A (n.1552-11C>A)
c.1081-11C>A (n.1081-11C>A)
c.1391-11C>A (n.1391-11C>A)
COSMIC
17g.58273681T>CCA292012428MPOn.699-12A>G
c.491-12A>G (n.491-12A>G)
n.394A>G
c.1366-12A>G (n.1366-12A>G)
c.1552-12A>G (n.1552-12A>G)
c.1081-12A>G (n.1081-12A>G)
c.1391-12A>G (n.1391-12A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273681T=CA2267631377MPOn.699-12A=
c.491-12A= (n.491-12A=)
n.394A=
c.1366-12A= (n.1366-12A=)
c.1552-12A= (n.1552-12A=)
c.1081-12A= (n.1081-12A=)
c.1391-12A= (n.1391-12A=)

Number of alleles fetched