Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97515799_97515801dupCA2646705842DPYDc.1667_1669dup (p.Ser556_Thr557insSer)
c.1524+33761_1524+33763dup (n.1524+33761_1524+33763dup)
c.1556_1558dup (p.Ser519_Thr520insSer)
c.1172_1174dup (p.Ser391_Thr392insSer)
gnomAD v4
1g.97515798G>ACA419142571DPYDc.1668C>T (p.Ser556=)
c.1524+33762C>T (n.1524+33762C>T)
c.1557C>T (p.Ser519=)
c.1173C>T (p.Ser391=)
dbSNP gnomAD v4
1g.97515798G>CCA341378303DPYDc.1668C>G (p.Ser556Arg)
c.1524+33762C>G (n.1524+33762C>G)
c.1557C>G (p.Ser519Arg)
c.1173C>G (p.Ser391Arg)
1g.97515798G>TCA341378304DPYDc.1668C>A (p.Ser556Arg)
c.1524+33762C>A (n.1524+33762C>A)
c.1557C>A (p.Ser519Arg)
c.1173C>A (p.Ser391Arg)
1g.97515799C>ACA341378306DPYDc.1667G>T (p.Ser556Ile)
c.1524+33761G>T (n.1524+33761G>T)
c.1556G>T (p.Ser519Ile)
c.1172G>T (p.Ser391Ile)
dbSNP
1g.97515799C=CA1182902279DPYDc.1667G= (p.Ser556=)
c.1524+33761G= (n.1524+33761G=)
c.1556G= (p.Ser519=)
c.1172G= (p.Ser391=)
1g.97515799C>GCA341378307DPYDc.1667G>C (p.Ser556Thr)
c.1524+33761G>C (n.1524+33761G>C)
c.1556G>C (p.Ser519Thr)
c.1172G>C (p.Ser391Thr)
dbSNP
1g.97515799C>TCA341378305DPYDc.1667G>A (p.Ser556Asn)
c.1524+33761G>A (n.1524+33761G>A)
c.1556G>A (p.Ser519Asn)
c.1172G>A (p.Ser391Asn)
dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.97515800T>ACA341378308DPYDc.1666A>T (p.Ser556Cys)
c.1524+33760A>T (n.1524+33760A>T)
c.1555A>T (p.Ser519Cys)
c.1171A>T (p.Ser391Cys)
1g.97515800T>CCA341378309DPYDc.1666A>G (p.Ser556Gly)
c.1524+33760A>G (n.1524+33760A>G)
c.1555A>G (p.Ser519Gly)
c.1171A>G (p.Ser391Gly)
dbSNP
1g.97515800T>GCA963280DPYDc.1666A>C (p.Ser556Arg)
c.1524+33760A>C (n.1524+33760A>C)
c.1555A>C (p.Ser519Arg)
c.1171A>C (p.Ser391Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515800T=CA1182902280DPYDc.1666A= (p.Ser556=)
c.1524+33760A= (n.1524+33760A=)
c.1555A= (p.Ser519=)
c.1171A= (p.Ser391=)
1g.97515801G>ACA419142582DPYDc.1665C>T (p.Thr555=)
c.1524+33759C>T (n.1524+33759C>T)
c.1554C>T (p.Thr518=)
c.1170C>T (p.Thr390=)
dbSNP
1g.97515801G>CCA419142586DPYDc.1665C>G (p.Thr555=)
c.1524+33759C>G (n.1524+33759C>G)
c.1554C>G (p.Thr518=)
c.1170C>G (p.Thr390=)
1g.97515801G>TCA419142584DPYDc.1665C>A (p.Thr555=)
c.1524+33759C>A (n.1524+33759C>A)
c.1554C>A (p.Thr518=)
c.1170C>A (p.Thr390=)
gnomAD v4
1g.97515802delCA2696709061DPYDc.1665del (p.Ser556AlafsTer4)
c.1524+33759del (n.1524+33759del)
c.1554del (p.Ser519AlafsTer4)
c.1170del (p.Ser391AlafsTer4)
dbSNP
1g.97515802G>ACA341378310DPYDc.1664C>T (p.Thr555Ile)
c.1524+33758C>T (n.1524+33758C>T)
c.1553C>T (p.Thr518Ile)
c.1169C>T (p.Thr390Ile)
dbSNP
1g.97515802G>CCA341378311DPYDc.1664C>G (p.Thr555Ser)
c.1524+33758C>G (n.1524+33758C>G)
c.1553C>G (p.Thr518Ser)
c.1169C>G (p.Thr390Ser)
dbSNP gnomAD v4
1g.97515802G>TCA341378312DPYDc.1664C>A (p.Thr555Asn)
c.1524+33758C>A (n.1524+33758C>A)
c.1553C>A (p.Thr518Asn)
c.1169C>A (p.Thr390Asn)
gnomAD v4
1g.97515803T>ACA341378313DPYDc.1663A>T (p.Thr555Ser)
c.1524+33757A>T (n.1524+33757A>T)
c.1552A>T (p.Thr518Ser)
c.1168A>T (p.Thr390Ser)
1g.97515803T>CCA341378314DPYDc.1663A>G (p.Thr555Ala)
c.1524+33757A>G (n.1524+33757A>G)
c.1552A>G (p.Thr518Ala)
c.1168A>G (p.Thr390Ala)
gnomAD v4
1g.97515803T>GCA341378315DPYDc.1663A>C (p.Thr555Pro)
c.1524+33757A>C (n.1524+33757A>C)
c.1552A>C (p.Thr518Pro)
c.1168A>C (p.Thr390Pro)
1g.97515804G>ACA963281DPYDc.1662C>T (p.Ala554=)
c.1524+33756C>T (n.1524+33756C>T)
c.1551C>T (p.Ala517=)
c.1167C>T (p.Ala389=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515804G>CCA419142597DPYDc.1662C>G (p.Ala554=)
c.1524+33756C>G (n.1524+33756C>G)
c.1551C>G (p.Ala517=)
c.1167C>G (p.Ala389=)
dbSNP
1g.97515804G=CA1182902281DPYDc.1662C= (p.Ala554=)
c.1524+33756C= (n.1524+33756C=)
c.1551C= (p.Ala517=)
c.1167C= (p.Ala389=)
1g.97515804G>TCA419142599DPYDc.1662C>A (p.Ala554=)
c.1524+33756C>A (n.1524+33756C>A)
c.1551C>A (p.Ala517=)
c.1167C>A (p.Ala389=)
1g.97515805G>ACA341378316DPYDc.1661C>T (p.Ala554Val)
c.1524+33755C>T (n.1524+33755C>T)
c.1550C>T (p.Ala517Val)
c.1166C>T (p.Ala389Val)
dbSNP
1g.97515805G>CCA341378317DPYDc.1661C>G (p.Ala554Gly)
c.1524+33755C>G (n.1524+33755C>G)
c.1550C>G (p.Ala517Gly)
c.1166C>G (p.Ala389Gly)
dbSNP
1g.97515805G>TCA341378318DPYDc.1661C>A (p.Ala554Asp)
c.1524+33755C>A (n.1524+33755C>A)
c.1550C>A (p.Ala517Asp)
c.1166C>A (p.Ala389Asp)
dbSNP
1g.97515806C>ACA341378320DPYDc.1660G>T (p.Ala554Ser)
c.1524+33754G>T (n.1524+33754G>T)
c.1549G>T (p.Ala517Ser)
c.1165G>T (p.Ala389Ser)
dbSNP
1g.97515806C>GCA341378321DPYDc.1660G>C (p.Ala554Pro)
c.1524+33754G>C (n.1524+33754G>C)
c.1549G>C (p.Ala517Pro)
c.1165G>C (p.Ala389Pro)
dbSNP
1g.97515806C>TCA341378319DPYDc.1660G>A (p.Ala554Thr)
c.1524+33754G>A (n.1524+33754G>A)
c.1549G>A (p.Ala517Thr)
c.1165G>A (p.Ala389Thr)
dbSNP
1g.97515807T>ACA419142611DPYDc.1659A>T (p.Pro553=)
c.1524+33753A>T (n.1524+33753A>T)
c.1548A>T (p.Pro516=)
c.1164A>T (p.Pro388=)
1g.97515807T>CCA419142613DPYDc.1659A>G (p.Pro553=)
c.1524+33753A>G (n.1524+33753A>G)
c.1548A>G (p.Pro516=)
c.1164A>G (p.Pro388=)
dbSNP COSMIC
1g.97515807T>GCA419142615DPYDc.1659A>C (p.Pro553=)
c.1524+33753A>C (n.1524+33753A>C)
c.1548A>C (p.Pro516=)
c.1164A>C (p.Pro388=)
1g.97515808G>ACA963282DPYDc.1658C>T (p.Pro553Leu)
c.1524+33752C>T (n.1524+33752C>T)
c.1547C>T (p.Pro516Leu)
c.1163C>T (p.Pro388Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515808G>CCA341378322DPYDc.1658C>G (p.Pro553Arg)
c.1524+33752C>G (n.1524+33752C>G)
c.1547C>G (p.Pro516Arg)
c.1163C>G (p.Pro388Arg)
COSMIC
1g.97515808G=CA1148567850DPYDc.1658C= (p.Pro553=)
c.1524+33752C= (n.1524+33752C=)
c.1547C= (p.Pro516=)
c.1163C= (p.Pro388=)
1g.97515808G>TCA341378323DPYDc.1658C>A (p.Pro553Gln)
c.1524+33752C>A (n.1524+33752C>A)
c.1547C>A (p.Pro516Gln)
c.1163C>A (p.Pro388Gln)
1g.97515809G>ACA341378324DPYDc.1657C>T (p.Pro553Ser)
c.1524+33751C>T (n.1524+33751C>T)
c.1546C>T (p.Pro516Ser)
c.1162C>T (p.Pro388Ser)
dbSNP
1g.97515809G>CCA341378325DPYDc.1657C>G (p.Pro553Ala)
c.1524+33751C>G (n.1524+33751C>G)
c.1546C>G (p.Pro516Ala)
c.1162C>G (p.Pro388Ala)
dbSNP gnomAD v4 COSMIC
1g.97515809G>TCA341378326DPYDc.1657C>A (p.Pro553Thr)
c.1524+33751C>A (n.1524+33751C>A)
c.1546C>A (p.Pro516Thr)
c.1162C>A (p.Pro388Thr)
1g.97515809_97515810insCACA2646705843DPYDc.1656_1657insTG (p.Pro553CysfsTer8)
c.1524+33750_1524+33751insTG (n.1524+33750_1524+33751insTG)
c.1545_1546insTG (p.Pro516CysfsTer8)
c.1161_1162insTG (p.Pro388CysfsTer8)
gnomAD v4
1g.97515810delCA2646705844DPYDc.1656del (p.Pro553GlnfsTer7)
c.1524+33750del (n.1524+33750del)
c.1545del (p.Pro516GlnfsTer7)
c.1161del (p.Pro388GlnfsTer7)
gnomAD v4
1g.97515810A=CA1182902282DPYDc.1656T= (p.Thr552=)
c.1524+33750T= (n.1524+33750T=)
c.1545T= (p.Thr515=)
c.1161T= (p.Thr387=)
1g.97515810A>CCA419142627DPYDc.1656T>G (p.Thr552=)
c.1524+33750T>G (n.1524+33750T>G)
c.1545T>G (p.Thr515=)
c.1161T>G (p.Thr387=)
1g.97515810A>GCA419142629DPYDc.1656T>C (p.Thr552=)
c.1524+33750T>C (n.1524+33750T>C)
c.1545T>C (p.Thr515=)
c.1161T>C (p.Thr387=)
dbSNP
1g.97515810A>TCA419142631DPYDc.1656T>A (p.Thr552=)
c.1524+33750T>A (n.1524+33750T>A)
c.1545T>A (p.Thr515=)
c.1161T>A (p.Thr387=)
dbSNP gnomAD v2 gnomAD v4
1g.97515811G>ACA341378329DPYDc.1655C>T (p.Thr552Ile)
c.1524+33749C>T (n.1524+33749C>T)
c.1544C>T (p.Thr515Ile)
c.1160C>T (p.Thr387Ile)
dbSNP
1g.97515811G>CCA341378327DPYDc.1655C>G (p.Thr552Ser)
c.1524+33749C>G (n.1524+33749C>G)
c.1544C>G (p.Thr515Ser)
c.1160C>G (p.Thr387Ser)
dbSNP
1g.97515811G>TCA341378328DPYDc.1655C>A (p.Thr552Asn)
c.1524+33749C>A (n.1524+33749C>A)
c.1544C>A (p.Thr515Asn)
c.1160C>A (p.Thr387Asn)
1g.97515812T>ACA341378330DPYDc.1654A>T (p.Thr552Ser)
c.1524+33748A>T (n.1524+33748A>T)
c.1543A>T (p.Thr515Ser)
c.1159A>T (p.Thr387Ser)
dbSNP
1g.97515812T>CCA963283DPYDc.1654A>G (p.Thr552Ala)
c.1524+33748A>G (n.1524+33748A>G)
c.1543A>G (p.Thr515Ala)
c.1159A>G (p.Thr387Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515812T>GCA341378331DPYDc.1654A>C (p.Thr552Pro)
c.1524+33748A>C (n.1524+33748A>C)
c.1543A>C (p.Thr515Pro)
c.1159A>C (p.Thr387Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97515812T=CA1182902283DPYDc.1654A= (p.Thr552=)
c.1524+33748A= (n.1524+33748A=)
c.1543A= (p.Thr515=)
c.1159A= (p.Thr387=)
1g.97515813T>ACA419142642DPYDc.1653A>T (p.Ala551=)
c.1524+33747A>T (n.1524+33747A>T)
c.1542A>T (p.Ala514=)
c.1158A>T (p.Ala386=)
1g.97515813T>CCA419142644DPYDc.1653A>G (p.Ala551=)
c.1524+33747A>G (n.1524+33747A>G)
c.1542A>G (p.Ala514=)
c.1158A>G (p.Ala386=)
1g.97515813T>GCA419142646DPYDc.1653A>C (p.Ala551=)
c.1524+33747A>C (n.1524+33747A>C)
c.1542A>C (p.Ala514=)
c.1158A>C (p.Ala386=)
1g.97515814G>ACA341378332DPYDc.1652C>T (p.Ala551Val)
c.1524+33746C>T (n.1524+33746C>T)
c.1541C>T (p.Ala514Val)
c.1157C>T (p.Ala386Val)
dbSNP gnomAD v2 gnomAD v4
1g.97515814G>CCA341378333DPYDc.1652C>G (p.Ala551Gly)
c.1524+33746C>G (n.1524+33746C>G)
c.1541C>G (p.Ala514Gly)
c.1157C>G (p.Ala386Gly)
dbSNP
1g.97515814G=CA1182902284DPYDc.1652C= (p.Ala551=)
c.1524+33746C= (n.1524+33746C=)
c.1541C= (p.Ala514=)
c.1157C= (p.Ala386=)
1g.97515814G>TCA341378334DPYDc.1652C>A (p.Ala551Glu)
c.1524+33746C>A (n.1524+33746C>A)
c.1541C>A (p.Ala514Glu)
c.1157C>A (p.Ala386Glu)
1g.97515815C>ACA963285DPYDc.1651G>T (p.Ala551Ser)
c.1524+33745G>T (n.1524+33745G>T)
c.1540G>T (p.Ala514Ser)
c.1156G>T (p.Ala386Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515815C=CA1182902285DPYDc.1651G= (p.Ala551=)
c.1524+33745G= (n.1524+33745G=)
c.1540G= (p.Ala514=)
c.1156G= (p.Ala386=)
1g.97515815C>GCA341378335DPYDc.1651G>C (p.Ala551Pro)
c.1524+33745G>C (n.1524+33745G>C)
c.1540G>C (p.Ala514Pro)
c.1156G>C (p.Ala386Pro)
dbSNP
1g.97515815C>TCA963284DPYDc.1651G>A (p.Ala551Thr)
c.1524+33745G>A (n.1524+33745G>A)
c.1540G>A (p.Ala514Thr)
c.1156G>A (p.Ala386Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97515816G>ACA963286DPYDc.1650C>T (p.Ser550=)
c.1524+33744C>T (n.1524+33744C>T)
c.1539C>T (p.Ser513=)
c.1155C>T (p.Ser385=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515816G>CCA341378336DPYDc.1650C>G (p.Ser550Arg)
c.1524+33744C>G (n.1524+33744C>G)
c.1539C>G (p.Ser513Arg)
c.1155C>G (p.Ser385Arg)
dbSNP gnomAD v4
1g.97515816G=CA1142281843DPYDc.1650C= (p.Ser550=)
c.1524+33744C= (n.1524+33744C=)
c.1539C= (p.Ser513=)
c.1155C= (p.Ser385=)
1g.97515816G>TCA341378337DPYDc.1650C>A (p.Ser550Arg)
c.1524+33744C>A (n.1524+33744C>A)
c.1539C>A (p.Ser513Arg)
c.1155C>A (p.Ser385Arg)
dbSNP gnomAD v2
1g.97515817C>ACA341378338DPYDc.1649G>T (p.Ser550Ile)
c.1524+33743G>T (n.1524+33743G>T)
c.1538G>T (p.Ser513Ile)
c.1154G>T (p.Ser385Ile)
dbSNP
1g.97515817C=CA1182902286DPYDc.1649G= (p.Ser550=)
c.1524+33743G= (n.1524+33743G=)
c.1538G= (p.Ser513=)
c.1154G= (p.Ser385=)
1g.97515817C>GCA341378340DPYDc.1649G>C (p.Ser550Thr)
c.1524+33743G>C (n.1524+33743G>C)
c.1538G>C (p.Ser513Thr)
c.1154G>C (p.Ser385Thr)
dbSNP
1g.97515817C>TCA341378339DPYDc.1649G>A (p.Ser550Asn)
c.1524+33743G>A (n.1524+33743G>A)
c.1538G>A (p.Ser513Asn)
c.1154G>A (p.Ser385Asn)
1g.97515818T>ACA341378341DPYDc.1648A>T (p.Ser550Cys)
c.1524+33742A>T (n.1524+33742A>T)
c.1537A>T (p.Ser513Cys)
c.1153A>T (p.Ser385Cys)
dbSNP
1g.97515818T>CCA341378342DPYDc.1648A>G (p.Ser550Gly)
c.1524+33742A>G (n.1524+33742A>G)
c.1537A>G (p.Ser513Gly)
c.1153A>G (p.Ser385Gly)
1g.97515818T>GCA341378343DPYDc.1648A>C (p.Ser550Arg)
c.1524+33742A>C (n.1524+33742A>C)
c.1537A>C (p.Ser513Arg)
c.1153A>C (p.Ser385Arg)
1g.97515819A>CCA419142672DPYDc.1647T>G (p.Ala549=)
c.1524+33741T>G (n.1524+33741T>G)
c.1536T>G (p.Ala512=)
c.1152T>G (p.Ala384=)
1g.97515819A>GCA419142674DPYDc.1647T>C (p.Ala549=)
c.1524+33741T>C (n.1524+33741T>C)
c.1536T>C (p.Ala512=)
c.1152T>C (p.Ala384=)
gnomAD v4
1g.97515819A>TCA419142675DPYDc.1647T>A (p.Ala549=)
c.1524+33741T>A (n.1524+33741T>A)
c.1536T>A (p.Ala512=)
c.1152T>A (p.Ala384=)
1g.97515820G>ACA341378344DPYDc.1646C>T (p.Ala549Val)
c.1524+33740C>T (n.1524+33740C>T)
c.1535C>T (p.Ala512Val)
c.1151C>T (p.Ala384Val)
dbSNP
1g.97515820G>CCA341378345DPYDc.1646C>G (p.Ala549Gly)
c.1524+33740C>G (n.1524+33740C>G)
c.1535C>G (p.Ala512Gly)
c.1151C>G (p.Ala384Gly)
dbSNP gnomAD v2 gnomAD v4
1g.97515820G=CA1182902287DPYDc.1646C= (p.Ala549=)
c.1524+33740C= (n.1524+33740C=)
c.1535C= (p.Ala512=)
c.1151C= (p.Ala384=)
1g.97515820G>TCA341378346DPYDc.1646C>A (p.Ala549Asp)
c.1524+33740C>A (n.1524+33740C>A)
c.1535C>A (p.Ala512Asp)
c.1151C>A (p.Ala384Asp)
1g.97515821C>ACA341378347DPYDc.1645G>T (p.Ala549Ser)
c.1524+33739G>T (n.1524+33739G>T)
c.1534G>T (p.Ala512Ser)
c.1150G>T (p.Ala384Ser)
1g.97515821C=CA1141717946DPYDc.1645G= (p.Ala549=)
c.1524+33739G= (n.1524+33739G=)
c.1534G= (p.Ala512=)
c.1150G= (p.Ala384=)
1g.97515821C>GCA963287DPYDc.1645G>C (p.Ala549Pro)
c.1524+33739G>C (n.1524+33739G>C)
c.1534G>C (p.Ala512Pro)
c.1150G>C (p.Ala384Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515821C>TCA341378348DPYDc.1645G>A (p.Ala549Thr)
c.1524+33739G>A (n.1524+33739G>A)
c.1534G>A (p.Ala512Thr)
c.1150G>A (p.Ala384Thr)
1g.97515822A>CCA419142691DPYDc.1644T>G (p.Leu548=)
c.1524+33738T>G (n.1524+33738T>G)
c.1533T>G (p.Leu511=)
c.1149T>G (p.Leu383=)
1g.97515822A>GCA419142688DPYDc.1644T>C (p.Leu548=)
c.1524+33738T>C (n.1524+33738T>C)
c.1533T>C (p.Leu511=)
c.1149T>C (p.Leu383=)
1g.97515822A>TCA419142689DPYDc.1644T>A (p.Leu548=)
c.1524+33738T>A (n.1524+33738T>A)
c.1533T>A (p.Leu511=)
c.1149T>A (p.Leu383=)
1g.97515823A=CA1182902288DPYDc.1643T= (p.Leu548=)
c.1524+33737T= (n.1524+33737T=)
c.1532T= (p.Leu511=)
c.1148T= (p.Leu383=)
1g.97515823A>CCA341378349DPYDc.1643T>G (p.Leu548Arg)
c.1524+33737T>G (n.1524+33737T>G)
c.1532T>G (p.Leu511Arg)
c.1148T>G (p.Leu383Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97515823A>GCA341378350DPYDc.1643T>C (p.Leu548Pro)
c.1524+33737T>C (n.1524+33737T>C)
c.1532T>C (p.Leu511Pro)
c.1148T>C (p.Leu383Pro)
1g.97515823A>TCA341378351DPYDc.1643T>A (p.Leu548His)
c.1524+33737T>A (n.1524+33737T>A)
c.1532T>A (p.Leu511His)
c.1148T>A (p.Leu383His)
1g.97515824G>ACA341378354DPYDc.1642C>T (p.Leu548Phe)
c.1524+33736C>T (n.1524+33736C>T)
c.1531C>T (p.Leu511Phe)
c.1147C>T (p.Leu383Phe)
dbSNP
1g.97515824G>CCA341378352DPYDc.1642C>G (p.Leu548Val)
c.1524+33736C>G (n.1524+33736C>G)
c.1531C>G (p.Leu511Val)
c.1147C>G (p.Leu383Val)
dbSNP
1g.97515824G>TCA341378353DPYDc.1642C>A (p.Leu548Ile)
c.1524+33736C>A (n.1524+33736C>A)
c.1531C>A (p.Leu511Ile)
c.1147C>A (p.Leu383Ile)
1g.97515825A>CCA419142702DPYDc.1641T>G (p.Gly547=)
c.1524+33735T>G (n.1524+33735T>G)
c.1530T>G (p.Gly510=)
c.1146T>G (p.Gly382=)
1g.97515825A>GCA419142704DPYDc.1641T>C (p.Gly547=)
c.1524+33735T>C (n.1524+33735T>C)
c.1530T>C (p.Gly510=)
c.1146T>C (p.Gly382=)
1g.97515825A>TCA419142706DPYDc.1641T>A (p.Gly547=)
c.1524+33735T>A (n.1524+33735T>A)
c.1530T>A (p.Gly510=)
c.1146T>A (p.Gly382=)
1g.97515826C>ACA341378355DPYDc.1640G>T (p.Gly547Val)
c.1524+33734G>T (n.1524+33734G>T)
c.1529G>T (p.Gly510Val)
c.1145G>T (p.Gly382Val)
dbSNP gnomAD v2 gnomAD v4
1g.97515826C=CA1182902289DPYDc.1640G= (p.Gly547=)
c.1524+33734G= (n.1524+33734G=)
c.1529G= (p.Gly510=)
c.1145G= (p.Gly382=)
1g.97515826C>GCA341378356DPYDc.1640G>C (p.Gly547Ala)
c.1524+33734G>C (n.1524+33734G>C)
c.1529G>C (p.Gly510Ala)
c.1145G>C (p.Gly382Ala)
dbSNP
1g.97515826C>TCA341378357DPYDc.1640G>A (p.Gly547Asp)
c.1524+33734G>A (n.1524+33734G>A)
c.1529G>A (p.Gly510Asp)
c.1145G>A (p.Gly382Asp)
dbSNP COSMIC
1g.97515827C>ACA341378358DPYDc.1639G>T (p.Gly547Cys)
c.1524+33733G>T (n.1524+33733G>T)
c.1528G>T (p.Gly510Cys)
c.1144G>T (p.Gly382Cys)
1g.97515827C>GCA341378359DPYDc.1639G>C (p.Gly547Arg)
c.1524+33733G>C (n.1524+33733G>C)
c.1528G>C (p.Gly510Arg)
c.1144G>C (p.Gly382Arg)
1g.97515827C>TCA341378360DPYDc.1639G>A (p.Gly547Ser)
c.1524+33733G>A (n.1524+33733G>A)
c.1528G>A (p.Gly510Ser)
c.1144G>A (p.Gly382Ser)
1g.97515828A>CCA341378361DPYDc.1638T>G (p.Phe546Leu)
c.1524+33732T>G (n.1524+33732T>G)
c.1527T>G (p.Phe509Leu)
c.1143T>G (p.Phe381Leu)
dbSNP
1g.97515828A>GCA419142717DPYDc.1638T>C (p.Phe546=)
c.1524+33732T>C (n.1524+33732T>C)
c.1527T>C (p.Phe509=)
c.1143T>C (p.Phe381=)
1g.97515828A>TCA341378362DPYDc.1638T>A (p.Phe546Leu)
c.1524+33732T>A (n.1524+33732T>A)
c.1527T>A (p.Phe509Leu)
c.1143T>A (p.Phe381Leu)
dbSNP
1g.97515829A=CA1182902290DPYDc.1637T= (p.Phe546=)
c.1524+33731T= (n.1524+33731T=)
c.1526T= (p.Phe509=)
c.1142T= (p.Phe381=)
1g.97515829A>CCA341378363DPYDc.1637T>G (p.Phe546Cys)
c.1524+33731T>G (n.1524+33731T>G)
c.1526T>G (p.Phe509Cys)
c.1142T>G (p.Phe381Cys)
1g.97515829A>GCA341378364DPYDc.1637T>C (p.Phe546Ser)
c.1524+33731T>C (n.1524+33731T>C)
c.1526T>C (p.Phe509Ser)
c.1142T>C (p.Phe381Ser)
dbSNP gnomAD v4
1g.97515829A>TCA341378365DPYDc.1637T>A (p.Phe546Tyr)
c.1524+33731T>A (n.1524+33731T>A)
c.1526T>A (p.Phe509Tyr)
c.1142T>A (p.Phe381Tyr)
1g.97515830A>CCA341378368DPYDc.1636T>G (p.Phe546Val)
c.1524+33730T>G (n.1524+33730T>G)
c.1525T>G (p.Phe509Val)
c.1141T>G (p.Phe381Val)
gnomAD v4
1g.97515830A>GCA341378367DPYDc.1636T>C (p.Phe546Leu)
c.1524+33730T>C (n.1524+33730T>C)
c.1525T>C (p.Phe509Leu)
c.1141T>C (p.Phe381Leu)
1g.97515830A>TCA341378366DPYDc.1636T>A (p.Phe546Ile)
c.1524+33730T>A (n.1524+33730T>A)
c.1525T>A (p.Phe509Ile)
c.1141T>A (p.Phe381Ile)
1g.97515831A=CA1182902291DPYDc.1635T= (p.Pro545=)
c.1524+33729T= (n.1524+33729T=)
c.1524T= (p.Pro508=)
c.1140T= (p.Pro380=)
1g.97515831A>CCA419142729DPYDc.1635T>G (p.Pro545=)
c.1524+33729T>G (n.1524+33729T>G)
c.1524T>G (p.Pro508=)
c.1140T>G (p.Pro380=)
1g.97515831A>GCA963288DPYDc.1635T>C (p.Pro545=)
c.1524+33729T>C (n.1524+33729T>C)
c.1524T>C (p.Pro508=)
c.1140T>C (p.Pro380=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515831A>TCA419142732DPYDc.1635T>A (p.Pro545=)
c.1524+33729T>A (n.1524+33729T>A)
c.1524T>A (p.Pro508=)
c.1140T>A (p.Pro380=)
1g.97515832G>ACA341378369DPYDc.1634C>T (p.Pro545Leu)
c.1524+33728C>T (n.1524+33728C>T)
c.1523C>T (p.Pro508Leu)
c.1139C>T (p.Pro380Leu)
dbSNP gnomAD v4 COSMIC
1g.97515832G>CCA341378370DPYDc.1634C>G (p.Pro545Arg)
c.1524+33728C>G (n.1524+33728C>G)
c.1523C>G (p.Pro508Arg)
c.1139C>G (p.Pro380Arg)
dbSNP
1g.97515832G>TCA341378371DPYDc.1634C>A (p.Pro545His)
c.1524+33728C>A (n.1524+33728C>A)
c.1523C>A (p.Pro508His)
c.1139C>A (p.Pro380His)
1g.97515832_97515833delinsAACA645518034DPYDc.1633_1634delinsTT (p.Pro545Phe)
c.1524+33727_1524+33728delinsTT (n.1524+33727_1524+33728delinsTT)
c.1522_1523delinsTT (p.Pro508Phe)
c.1138_1139delinsTT (p.Pro380Phe)
COSMIC
1g.97515833G>ACA341378372DPYDc.1633C>T (p.Pro545Ser)
c.1524+33727C>T (n.1524+33727C>T)
c.1522C>T (p.Pro508Ser)
c.1138C>T (p.Pro380Ser)
dbSNP COSMIC
1g.97515833G>CCA341378373DPYDc.1633C>G (p.Pro545Ala)
c.1524+33727C>G (n.1524+33727C>G)
c.1522C>G (p.Pro508Ala)
c.1138C>G (p.Pro380Ala)
dbSNP gnomAD v4
1g.97515833G>TCA341378374DPYDc.1633C>A (p.Pro545Thr)
c.1524+33727C>A (n.1524+33727C>A)
c.1522C>A (p.Pro508Thr)
c.1138C>A (p.Pro380Thr)
1g.97515834A>CCA341378375DPYDc.1632T>G (p.Asn544Lys)
c.1524+33726T>G (n.1524+33726T>G)
c.1521T>G (p.Asn507Lys)
c.1137T>G (p.Asn379Lys)
1g.97515834A>GCA419142744DPYDc.1632T>C (p.Asn544=)
c.1524+33726T>C (n.1524+33726T>C)
c.1521T>C (p.Asn507=)
c.1137T>C (p.Asn379=)
1g.97515834A>TCA341378376DPYDc.1632T>A (p.Asn544Lys)
c.1524+33726T>A (n.1524+33726T>A)
c.1521T>A (p.Asn507Lys)
c.1137T>A (p.Asn379Lys)
gnomAD v4
1g.97515835T>ACA341378377DPYDc.1631A>T (p.Asn544Ile)
c.1524+33725A>T (n.1524+33725A>T)
c.1520A>T (p.Asn507Ile)
c.1136A>T (p.Asn379Ile)
dbSNP
1g.97515835T>CCA341378378DPYDc.1631A>G (p.Asn544Ser)
c.1524+33725A>G (n.1524+33725A>G)
c.1520A>G (p.Asn507Ser)
c.1136A>G (p.Asn379Ser)
1g.97515835T>GCA341378379DPYDc.1631A>C (p.Asn544Thr)
c.1524+33725A>C (n.1524+33725A>C)
c.1520A>C (p.Asn507Thr)
c.1136A>C (p.Asn379Thr)
dbSNP
1g.97515836T>ACA341378382DPYDc.1630A>T (p.Asn544Tyr)
c.1524+33724A>T (n.1524+33724A>T)
c.1519A>T (p.Asn507Tyr)
c.1135A>T (p.Asn379Tyr)
dbSNP
1g.97515836T>CCA341378381DPYDc.1630A>G (p.Asn544Asp)
c.1524+33724A>G (n.1524+33724A>G)
c.1519A>G (p.Asn507Asp)
c.1135A>G (p.Asn379Asp)
1g.97515836T>GCA341378380DPYDc.1630A>C (p.Asn544His)
c.1524+33724A>C (n.1524+33724A>C)
c.1519A>C (p.Asn507His)
c.1135A>C (p.Asn379His)
gnomAD v4
1g.97515837T>ACA419142757DPYDc.1629A>T (p.Ile543=)
c.1524+33723A>T (n.1524+33723A>T)
c.1518A>T (p.Ile506=)
c.1134A>T (p.Ile378=)
1g.97515837T>CCA341378383DPYDc.1629A>G (p.Ile543Met)
c.1524+33723A>G (n.1524+33723A>G)
c.1518A>G (p.Ile506Met)
c.1134A>G (p.Ile378Met)
1g.97515837T>GCA419142761DPYDc.1629A>C (p.Ile543=)
c.1524+33723A>C (n.1524+33723A>C)
c.1518A>C (p.Ile506=)
c.1134A>C (p.Ile378=)
1g.97515838A>CCA341378384DPYDc.1628T>G (p.Ile543Arg)
c.1524+33722T>G (n.1524+33722T>G)
c.1517T>G (p.Ile506Arg)
c.1133T>G (p.Ile378Arg)
1g.97515838A>GCA341378385DPYDc.1628T>C (p.Ile543Thr)
c.1524+33722T>C (n.1524+33722T>C)
c.1517T>C (p.Ile506Thr)
c.1133T>C (p.Ile378Thr)
gnomAD v4
1g.97515838A>TCA341378386DPYDc.1628T>A (p.Ile543Lys)
c.1524+33722T>A (n.1524+33722T>A)
c.1517T>A (p.Ile506Lys)
c.1133T>A (p.Ile378Lys)
1g.97515839T>ACA341378387DPYDc.1627A>T (p.Ile543Leu)
c.1524+33721A>T (n.1524+33721A>T)
c.1516A>T (p.Ile506Leu)
c.1132A>T (p.Ile378Leu)
dbSNP
1g.97515839T>CCA200992DPYDc.1627A>G (p.Ile543Val)
c.1524+33721A>G (n.1524+33721A>G)
c.1516A>G (p.Ile506Val)
c.1132A>G (p.Ile378Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515839T>GCA341378388DPYDc.1627A>C (p.Ile543Leu)
c.1524+33721A>C (n.1524+33721A>C)
c.1516A>C (p.Ile506Leu)
c.1132A>C (p.Ile378Leu)
dbSNP
1g.97515839T=CA1139894835DPYDc.1627A= (p.Ile543=)
c.1524+33721A= (n.1524+33721A=)
c.1516A= (p.Ile506=)
c.1132A= (p.Ile378=)
1g.97515840A>CCA341378389DPYDc.1626T>G (p.Phe542Leu)
c.1524+33720T>G (n.1524+33720T>G)
c.1515T>G (p.Phe505Leu)
c.1131T>G (p.Phe377Leu)
gnomAD v4
1g.97515840A>GCA419142774DPYDc.1626T>C (p.Phe542=)
c.1524+33720T>C (n.1524+33720T>C)
c.1515T>C (p.Phe505=)
c.1131T>C (p.Phe377=)
dbSNP gnomAD v4
1g.97515840A>TCA341378390DPYDc.1626T>A (p.Phe542Leu)
c.1524+33720T>A (n.1524+33720T>A)
c.1515T>A (p.Phe505Leu)
c.1131T>A (p.Phe377Leu)
dbSNP
1g.97515841A>CCA341378391DPYDc.1625T>G (p.Phe542Cys)
c.1524+33719T>G (n.1524+33719T>G)
c.1514T>G (p.Phe505Cys)
c.1130T>G (p.Phe377Cys)
1g.97515841A>GCA341378392DPYDc.1625T>C (p.Phe542Ser)
c.1524+33719T>C (n.1524+33719T>C)
c.1514T>C (p.Phe505Ser)
c.1130T>C (p.Phe377Ser)
gnomAD v4
1g.97515841A>TCA341378393DPYDc.1625T>A (p.Phe542Tyr)
c.1524+33719T>A (n.1524+33719T>A)
c.1514T>A (p.Phe505Tyr)
c.1130T>A (p.Phe377Tyr)
1g.97515842A>CCA341378396DPYDc.1624T>G (p.Phe542Val)
c.1524+33718T>G (n.1524+33718T>G)
c.1513T>G (p.Phe505Val)
c.1129T>G (p.Phe377Val)
1g.97515842A>GCA341378395DPYDc.1624T>C (p.Phe542Leu)
c.1524+33718T>C (n.1524+33718T>C)
c.1513T>C (p.Phe505Leu)
c.1129T>C (p.Phe377Leu)
1g.97515842A>TCA341378394DPYDc.1624T>A (p.Phe542Ile)
c.1524+33718T>A (n.1524+33718T>A)
c.1513T>A (p.Phe505Ile)
c.1129T>A (p.Phe377Ile)
dbSNP
1g.97515843C>ACA341378397DPYDc.1623G>T (p.Lys541Asn)
c.1524+33717G>T (n.1524+33717G>T)
c.1512G>T (p.Lys504Asn)
c.1128G>T (p.Lys376Asn)
1g.97515843C>GCA341378398DPYDc.1623G>C (p.Lys541Asn)
c.1524+33717G>C (n.1524+33717G>C)
c.1512G>C (p.Lys504Asn)
c.1128G>C (p.Lys376Asn)
dbSNP
1g.97515843C>TCA419142790DPYDc.1623G>A (p.Lys541=)
c.1524+33717G>A (n.1524+33717G>A)
c.1512G>A (p.Lys504=)
c.1128G>A (p.Lys376=)
1g.97515844T>ACA341378399DPYDc.1622A>T (p.Lys541Met)
c.1524+33716A>T (n.1524+33716A>T)
c.1511A>T (p.Lys504Met)
c.1127A>T (p.Lys376Met)
dbSNP
1g.97515844T>CCA341378400DPYDc.1622A>G (p.Lys541Arg)
c.1524+33716A>G (n.1524+33716A>G)
c.1511A>G (p.Lys504Arg)
c.1127A>G (p.Lys376Arg)
1g.97515844T>GCA341378401DPYDc.1622A>C (p.Lys541Thr)
c.1524+33716A>C (n.1524+33716A>C)
c.1511A>C (p.Lys504Thr)
c.1127A>C (p.Lys376Thr)
1g.97515845T>ACA341378402DPYDc.1621A>T (p.Lys541Ter)
c.1524+33715A>T (n.1524+33715A>T)
c.1510A>T (p.Lys504Ter)
c.1126A>T (p.Lys376Ter)
dbSNP
1g.97515845T>CCA341378403DPYDc.1621A>G (p.Lys541Glu)
c.1524+33715A>G (n.1524+33715A>G)
c.1510A>G (p.Lys504Glu)
c.1126A>G (p.Lys376Glu)
dbSNP
1g.97515845T>GCA341378404DPYDc.1621A>C (p.Lys541Gln)
c.1524+33715A>C (n.1524+33715A>C)
c.1510A>C (p.Lys504Gln)
c.1126A>C (p.Lys376Gln)
1g.97515846C>ACA341378406DPYDc.1620G>T (p.Leu540Phe)
c.1524+33714G>T (n.1524+33714G>T)
c.1509G>T (p.Leu503Phe)
c.1125G>T (p.Leu375Phe)
dbSNP
1g.97515846C>GCA341378405DPYDc.1620G>C (p.Leu540Phe)
c.1524+33714G>C (n.1524+33714G>C)
c.1509G>C (p.Leu503Phe)
c.1125G>C (p.Leu375Phe)
dbSNP COSMIC
1g.97515846C>TCA419142802DPYDc.1620G>A (p.Leu540=)
c.1524+33714G>A (n.1524+33714G>A)
c.1509G>A (p.Leu503=)
c.1125G>A (p.Leu375=)
1g.97515847A>CCA341378407DPYDc.1619T>G (p.Leu540Trp)
c.1524+33713T>G (n.1524+33713T>G)
c.1508T>G (p.Leu503Trp)
c.1124T>G (p.Leu375Trp)
1g.97515847A>GCA341378408DPYDc.1619T>C (p.Leu540Ser)
c.1524+33713T>C (n.1524+33713T>C)
c.1508T>C (p.Leu503Ser)
c.1124T>C (p.Leu375Ser)
COSMIC
1g.97515847A>TCA341378409DPYDc.1619T>A (p.Leu540Ter)
c.1524+33713T>A (n.1524+33713T>A)
c.1508T>A (p.Leu503Ter)
c.1124T>A (p.Leu375Ter)
1g.97515848A=CA1182902292DPYDc.1618T= (p.Leu540=)
c.1524+33712T= (n.1524+33712T=)
c.1507T= (p.Leu503=)
c.1123T= (p.Leu375=)
1g.97515848A>CCA341378410DPYDc.1618T>G (p.Leu540Val)
c.1524+33712T>G (n.1524+33712T>G)
c.1507T>G (p.Leu503Val)
c.1123T>G (p.Leu375Val)
1g.97515848A>GCA419142810DPYDc.1618T>C (p.Leu540=)
c.1524+33712T>C (n.1524+33712T>C)
c.1507T>C (p.Leu503=)
c.1123T>C (p.Leu375=)
dbSNP gnomAD v3 gnomAD v4
1g.97515848A>TCA963289DPYDc.1618T>A (p.Leu540Met)
c.1524+33712T>A (n.1524+33712T>A)
c.1507T>A (p.Leu503Met)
c.1123T>A (p.Leu375Met)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515849T>ACA419142814DPYDc.1617A>T (p.Gly539=)
c.1524+33711A>T (n.1524+33711A>T)
c.1506A>T (p.Gly502=)
c.1122A>T (p.Gly374=)
dbSNP
1g.97515849T>CCA963290DPYDc.1617A>G (p.Gly539=)
c.1524+33711A>G (n.1524+33711A>G)
c.1506A>G (p.Gly502=)
c.1122A>G (p.Gly374=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515849T>GCA419142817DPYDc.1617A>C (p.Gly539=)
c.1524+33711A>C (n.1524+33711A>C)
c.1506A>C (p.Gly502=)
c.1122A>C (p.Gly374=)
1g.97515849T=CA1182902293DPYDc.1617A= (p.Gly539=)
c.1524+33711A= (n.1524+33711A=)
c.1506A= (p.Gly502=)
c.1122A= (p.Gly374=)
1g.97515850C>ACA341378411DPYDc.1616G>T (p.Gly539Val)
c.1524+33710G>T (n.1524+33710G>T)
c.1505G>T (p.Gly502Val)
c.1121G>T (p.Gly374Val)
dbSNP
1g.97515850C>GCA341378413DPYDc.1616G>C (p.Gly539Ala)
c.1524+33710G>C (n.1524+33710G>C)
c.1505G>C (p.Gly502Ala)
c.1121G>C (p.Gly374Ala)
dbSNP
1g.97515850C>TCA341378412DPYDc.1616G>A (p.Gly539Glu)
c.1524+33710G>A (n.1524+33710G>A)
c.1505G>A (p.Gly502Glu)
c.1121G>A (p.Gly374Glu)
dbSNP
1g.97515851C>ACA341378414DPYDc.1615G>T (p.Gly539Ter)
c.1524+33709G>T (n.1524+33709G>T)
c.1504G>T (p.Gly502Ter)
c.1120G>T (p.Gly374Ter)
dbSNP
1g.97515851C=CA1141878698DPYDc.1615G= (p.Gly539=)
c.1524+33709G= (n.1524+33709G=)
c.1504G= (p.Gly502=)
c.1120G= (p.Gly374=)
1g.97515851C>GCA963291DPYDc.1615G>C (p.Gly539Arg)
c.1524+33709G>C (n.1524+33709G>C)
c.1504G>C (p.Gly502Arg)
c.1120G>C (p.Gly374Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97515851C>TCA228121DPYDc.1615G>A (p.Gly539Arg)
c.1524+33709G>A (n.1524+33709G>A)
c.1504G>A (p.Gly502Arg)
c.1120G>A (p.Gly374Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97515852G>ACA963292DPYDc.1614C>T (p.Ala538=)
c.1524+33708C>T (n.1524+33708C>T)
c.1503C>T (p.Ala501=)
c.1119C>T (p.Ala373=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97515852G>CCA419142832DPYDc.1614C>G (p.Ala538=)
c.1524+33708C>G (n.1524+33708C>G)
c.1503C>G (p.Ala501=)
c.1119C>G (p.Ala373=)
dbSNP
1g.97515852G=CA1182902294DPYDc.1614C= (p.Ala538=)
c.1524+33708C= (n.1524+33708C=)
c.1503C= (p.Ala501=)
c.1119C= (p.Ala373=)
1g.97515852G>TCA419142834DPYDc.1614C>A (p.Ala538=)
c.1524+33708C>A (n.1524+33708C>A)
c.1503C>A (p.Ala501=)
c.1119C>A (p.Ala373=)
dbSNP gnomAD v4
1g.97515853G>ACA341378415DPYDc.1613C>T (p.Ala538Val)
c.1524+33707C>T (n.1524+33707C>T)
c.1502C>T (p.Ala501Val)
c.1118C>T (p.Ala373Val)
dbSNP
1g.97515853G>CCA341378416DPYDc.1613C>G (p.Ala538Gly)
c.1524+33707C>G (n.1524+33707C>G)
c.1502C>G (p.Ala501Gly)
c.1118C>G (p.Ala373Gly)
dbSNP gnomAD v3 gnomAD v4
1g.97515853G=CA1182902295DPYDc.1613C= (p.Ala538=)
c.1524+33707C= (n.1524+33707C=)
c.1502C= (p.Ala501=)
c.1118C= (p.Ala373=)
1g.97515853G>TCA341378417DPYDc.1613C>A (p.Ala538Asp)
c.1524+33707C>A (n.1524+33707C>A)
c.1502C>A (p.Ala501Asp)
c.1118C>A (p.Ala373Asp)
dbSNP
1g.97515854C>ACA341378418DPYDc.1612G>T (p.Ala538Ser)
c.1524+33706G>T (n.1524+33706G>T)
c.1501G>T (p.Ala501Ser)
c.1117G>T (p.Ala373Ser)
dbSNP gnomAD v2 gnomAD v4
1g.97515854C=CA1182902296DPYDc.1612G= (p.Ala538=)
c.1524+33706G= (n.1524+33706G=)
c.1501G= (p.Ala501=)
c.1117G= (p.Ala373=)
1g.97515854C>GCA341378419DPYDc.1612G>C (p.Ala538Pro)
c.1524+33706G>C (n.1524+33706G>C)
c.1501G>C (p.Ala501Pro)
c.1117G>C (p.Ala373Pro)
dbSNP
1g.97515854C>TCA341378420DPYDc.1612G>A (p.Ala538Thr)
c.1524+33706G>A (n.1524+33706G>A)
c.1501G>A (p.Ala501Thr)
c.1117G>A (p.Ala373Thr)
dbSNP gnomAD v4
1g.97515855C>ACA341378423DPYDc.1611G>T (p.Met537Ile)
c.1524+33705G>T (n.1524+33705G>T)
c.1500G>T (p.Met500Ile)
c.1116G>T (p.Met372Ile)
dbSNP
1g.97515855C>GCA341378422DPYDc.1611G>C (p.Met537Ile)
c.1524+33705G>C (n.1524+33705G>C)
c.1500G>C (p.Met500Ile)
c.1116G>C (p.Met372Ile)
dbSNP
1g.97515855C>TCA341378421DPYDc.1611G>A (p.Met537Ile)
c.1524+33705G>A (n.1524+33705G>A)
c.1500G>A (p.Met500Ile)
c.1116G>A (p.Met372Ile)
dbSNP
1g.97515856A>CCA341378424DPYDc.1610T>G (p.Met537Arg)
c.1524+33704T>G (n.1524+33704T>G)
c.1499T>G (p.Met500Arg)
c.1115T>G (p.Met372Arg)
dbSNP
1g.97515856A>GCA341378425DPYDc.1610T>C (p.Met537Thr)
c.1524+33704T>C (n.1524+33704T>C)
c.1499T>C (p.Met500Thr)
c.1115T>C (p.Met372Thr)
gnomAD v4
1g.97515856A>TCA341378426DPYDc.1610T>A (p.Met537Lys)
c.1524+33704T>A (n.1524+33704T>A)
c.1499T>A (p.Met500Lys)
c.1115T>A (p.Met372Lys)
dbSNP
1g.97515857T>ACA341378427DPYDc.1609A>T (p.Met537Leu)
c.1524+33703A>T (n.1524+33703A>T)
c.1498A>T (p.Met500Leu)
c.1114A>T (p.Met372Leu)
1g.97515857T>CCA341378428DPYDc.1609A>G (p.Met537Val)
c.1524+33703A>G (n.1524+33703A>G)
c.1498A>G (p.Met500Val)
c.1114A>G (p.Met372Val)
gnomAD v4
1g.97515857T>GCA341378429DPYDc.1609A>C (p.Met537Leu)
c.1524+33703A>C (n.1524+33703A>C)
c.1498A>C (p.Met500Leu)
c.1114A>C (p.Met372Leu)
dbSNP gnomAD v4
1g.97515857T=CA1182902297DPYDc.1609A= (p.Met537=)
c.1524+33703A= (n.1524+33703A=)
c.1498A= (p.Met500=)
c.1114A= (p.Met372=)
1g.97515858T>ACA341378430DPYDc.1608A>T (p.Glu536Asp)
c.1524+33702A>T (n.1524+33702A>T)
c.1497A>T (p.Glu499Asp)
c.1113A>T (p.Glu371Asp)
1g.97515858T>CCA419142860DPYDc.1608A>G (p.Glu536=)
c.1524+33702A>G (n.1524+33702A>G)
c.1497A>G (p.Glu499=)
c.1113A>G (p.Glu371=)
1g.97515858T>GCA963293DPYDc.1608A>C (p.Glu536Asp)
c.1524+33702A>C (n.1524+33702A>C)
c.1497A>C (p.Glu499Asp)
c.1113A>C (p.Glu371Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515858T=CA1182902298DPYDc.1608A= (p.Glu536=)
c.1524+33702A= (n.1524+33702A=)
c.1497A= (p.Glu499=)
c.1113A= (p.Glu371=)
1g.97515859T>ACA341378431DPYDc.1607A>T (p.Glu536Val)
c.1524+33701A>T (n.1524+33701A>T)
c.1496A>T (p.Glu499Val)
c.1112A>T (p.Glu371Val)
1g.97515859T>CCA341378432DPYDc.1607A>G (p.Glu536Gly)
c.1524+33701A>G (n.1524+33701A>G)
c.1496A>G (p.Glu499Gly)
c.1112A>G (p.Glu371Gly)
1g.97515859T>GCA341378433DPYDc.1607A>C (p.Glu536Ala)
c.1524+33701A>C (n.1524+33701A>C)
c.1496A>C (p.Glu499Ala)
c.1112A>C (p.Glu371Ala)
1g.97515860C>ACA341378434DPYDc.1606G>T (p.Glu536Ter)
c.1524+33700G>T (n.1524+33700G>T)
c.1495G>T (p.Glu499Ter)
c.1111G>T (p.Glu371Ter)
dbSNP
1g.97515860C>GCA341378435DPYDc.1606G>C (p.Glu536Gln)
c.1524+33700G>C (n.1524+33700G>C)
c.1495G>C (p.Glu499Gln)
c.1111G>C (p.Glu371Gln)
dbSNP
1g.97515860C>TCA341378436DPYDc.1606G>A (p.Glu536Lys)
c.1524+33700G>A (n.1524+33700G>A)
c.1495G>A (p.Glu499Lys)
c.1111G>A (p.Glu371Lys)
1g.97515861T>ACA419142874DPYDc.1605A>T (p.Val535=)
c.1524+33699A>T (n.1524+33699A>T)
c.1494A>T (p.Val498=)
c.1110A>T (p.Val370=)
1g.97515861T>CCA419142878DPYDc.1605A>G (p.Val535=)
c.1524+33699A>G (n.1524+33699A>G)
c.1494A>G (p.Val498=)
c.1110A>G (p.Val370=)
dbSNP
1g.97515861T>GCA419142876DPYDc.1605A>C (p.Val535=)
c.1524+33699A>C (n.1524+33699A>C)
c.1494A>C (p.Val498=)
c.1110A>C (p.Val370=)
dbSNP gnomAD v2 gnomAD v4
1g.97515861T=CA1182902299DPYDc.1605A= (p.Val535=)
c.1524+33699A= (n.1524+33699A=)
c.1494A= (p.Val498=)
c.1110A= (p.Val370=)
1g.97515862A>CCA341378437DPYDc.1604T>G (p.Val535Gly)
c.1524+33698T>G (n.1524+33698T>G)
c.1493T>G (p.Val498Gly)
c.1109T>G (p.Val370Gly)
dbSNP
1g.97515862A>GCA341378439DPYDc.1604T>C (p.Val535Ala)
c.1524+33698T>C (n.1524+33698T>C)
c.1493T>C (p.Val498Ala)
c.1109T>C (p.Val370Ala)
1g.97515862A>TCA341378438DPYDc.1604T>A (p.Val535Glu)
c.1524+33698T>A (n.1524+33698T>A)
c.1493T>A (p.Val498Glu)
c.1109T>A (p.Val370Glu)
1g.97515863C>ACA341378440DPYDc.1603G>T (p.Val535Leu)
c.1524+33697G>T (n.1524+33697G>T)
c.1492G>T (p.Val498Leu)
c.1108G>T (p.Val370Leu)
gnomAD v4
1g.97515863C=CA1182902300DPYDc.1603G= (p.Val535=)
c.1524+33697G= (n.1524+33697G=)
c.1492G= (p.Val498=)
c.1108G= (p.Val370=)
1g.97515863C>GCA341378441DPYDc.1603G>C (p.Val535Leu)
c.1524+33697G>C (n.1524+33697G>C)
c.1492G>C (p.Val498Leu)
c.1108G>C (p.Val370Leu)
dbSNP gnomAD v3 gnomAD v4
1g.97515863C>TCA341378442DPYDc.1603G>A (p.Val535Ile)
c.1524+33697G>A (n.1524+33697G>A)
c.1492G>A (p.Val498Ile)
c.1108G>A (p.Val370Ile)
dbSNP gnomAD v4
1g.97515864A=CA1182902301DPYDc.1602T= (p.Ser534=)
c.1524+33696T= (n.1524+33696T=)
c.1491T= (p.Ser497=)
c.1107T= (p.Ser369=)
1g.97515864A>CCA341378443DPYDc.1602T>G (p.Ser534Arg)
c.1524+33696T>G (n.1524+33696T>G)
c.1491T>G (p.Ser497Arg)
c.1107T>G (p.Ser369Arg)
1g.97515864A>GCA419142888DPYDc.1602T>C (p.Ser534=)
c.1524+33696T>C (n.1524+33696T>C)
c.1491T>C (p.Ser497=)
c.1107T>C (p.Ser369=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.97515864A>TCA341378444DPYDc.1602T>A (p.Ser534Arg)
c.1524+33696T>A (n.1524+33696T>A)
c.1491T>A (p.Ser497Arg)
c.1107T>A (p.Ser369Arg)
1g.97515865C>ACA341378445DPYDc.1601G>T (p.Ser534Ile)
c.1524+33695G>T (n.1524+33695G>T)
c.1490G>T (p.Ser497Ile)
c.1106G>T (p.Ser369Ile)
dbSNP
1g.97515865C=CA1139894833DPYDc.1601G= (p.Ser534=)
c.1524+33695G= (n.1524+33695G=)
c.1490G= (p.Ser497=)
c.1106G= (p.Ser369=)
1g.97515865C>GCA341378449DPYDc.1601G>C (p.Ser534Thr)
c.1524+33695G>C (n.1524+33695G>C)
c.1490G>C (p.Ser497Thr)
c.1106G>C (p.Ser369Thr)
dbSNP
1g.97515865C>TCA228124DPYDc.1601G>A (p.Ser534Asn)
c.1524+33695G>A (n.1524+33695G>A)
c.1490G>A (p.Ser497Asn)
c.1106G>A (p.Ser369Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515866T>ACA341378451DPYDc.1600A>T (p.Ser534Cys)
c.1524+33694A>T (n.1524+33694A>T)
c.1489A>T (p.Ser497Cys)
c.1105A>T (p.Ser369Cys)
dbSNP
1g.97515866T>CCA341378453DPYDc.1600A>G (p.Ser534Gly)
c.1524+33694A>G (n.1524+33694A>G)
c.1489A>G (p.Ser497Gly)
c.1105A>G (p.Ser369Gly)
1g.97515866T>GCA341378454DPYDc.1600A>C (p.Ser534Arg)
c.1524+33694A>C (n.1524+33694A>C)
c.1489A>C (p.Ser497Arg)
c.1105A>C (p.Ser369Arg)
1g.97515867A>CCA341378456DPYDc.1599T>G (p.Ile533Met)
c.1524+33693T>G (n.1524+33693T>G)
c.1488T>G (p.Ile496Met)
c.1104T>G (p.Ile368Met)
1g.97515867A>GCA419142894DPYDc.1599T>C (p.Ile533=)
c.1524+33693T>C (n.1524+33693T>C)
c.1488T>C (p.Ile496=)
c.1104T>C (p.Ile368=)
1g.97515867A>TCA419142896DPYDc.1599T>A (p.Ile533=)
c.1524+33693T>A (n.1524+33693T>A)
c.1488T>A (p.Ile496=)
c.1104T>A (p.Ile368=)
gnomAD v4
1g.97515868A>CCA341378460DPYDc.1598T>G (p.Ile533Ser)
c.1524+33692T>G (n.1524+33692T>G)
c.1487T>G (p.Ile496Ser)
c.1103T>G (p.Ile368Ser)
1g.97515868A>GCA341378458DPYDc.1598T>C (p.Ile533Thr)
c.1524+33692T>C (n.1524+33692T>C)
c.1487T>C (p.Ile496Thr)
c.1103T>C (p.Ile368Thr)
gnomAD v4
1g.97515868A>TCA341378469DPYDc.1598T>A (p.Ile533Asn)
c.1524+33692T>A (n.1524+33692T>A)
c.1487T>A (p.Ile496Asn)
c.1103T>A (p.Ile368Asn)
1g.97515869T>ACA341378470DPYDc.1597A>T (p.Ile533Phe)
c.1524+33691A>T (n.1524+33691A>T)
c.1486A>T (p.Ile496Phe)
c.1102A>T (p.Ile368Phe)
1g.97515869T>CCA341378472DPYDc.1597A>G (p.Ile533Val)
c.1524+33691A>G (n.1524+33691A>G)
c.1486A>G (p.Ile496Val)
c.1102A>G (p.Ile368Val)
gnomAD v4
1g.97515869T>GCA341378471DPYDc.1597A>C (p.Ile533Leu)
c.1524+33691A>C (n.1524+33691A>C)
c.1486A>C (p.Ile496Leu)
c.1102A>C (p.Ile368Leu)
1g.97515870G>ACA419142909DPYDc.1596C>T (p.Asp532=)
c.1524+33690C>T (n.1524+33690C>T)
c.1485C>T (p.Asp495=)
c.1101C>T (p.Asp367=)
1g.97515870G>CCA341378473DPYDc.1596C>G (p.Asp532Glu)
c.1524+33690C>G (n.1524+33690C>G)
c.1485C>G (p.Asp495Glu)
c.1101C>G (p.Asp367Glu)
dbSNP
1g.97515870G>TCA341378474DPYDc.1596C>A (p.Asp532Glu)
c.1524+33690C>A (n.1524+33690C>A)
c.1485C>A (p.Asp495Glu)
c.1101C>A (p.Asp367Glu)
1g.97515871T>ACA341378478DPYDc.1595A>T (p.Asp532Val)
c.1524+33689A>T (n.1524+33689A>T)
c.1484A>T (p.Asp495Val)
c.1100A>T (p.Asp367Val)
1g.97515871T>CCA341378479DPYDc.1595A>G (p.Asp532Gly)
c.1524+33689A>G (n.1524+33689A>G)
c.1484A>G (p.Asp495Gly)
c.1100A>G (p.Asp367Gly)
gnomAD v4
1g.97515871T>GCA341378482DPYDc.1595A>C (p.Asp532Ala)
c.1524+33689A>C (n.1524+33689A>C)
c.1484A>C (p.Asp495Ala)
c.1100A>C (p.Asp367Ala)
1g.97515872C>ACA341378484DPYDc.1594G>T (p.Asp532Tyr)
c.1524+33688G>T (n.1524+33688G>T)
c.1483G>T (p.Asp495Tyr)
c.1099G>T (p.Asp367Tyr)
dbSNP
1g.97515872C>GCA341378486DPYDc.1594G>C (p.Asp532His)
c.1524+33688G>C (n.1524+33688G>C)
c.1483G>C (p.Asp495His)
c.1099G>C (p.Asp367His)
dbSNP
1g.97515872C>TCA341378488DPYDc.1594G>A (p.Asp532Asn)
c.1524+33688G>A (n.1524+33688G>A)
c.1483G>A (p.Asp495Asn)
c.1099G>A (p.Asp367Asn)
dbSNP
1g.97515873C>ACA419142918DPYDc.1593G>T (p.Val531=)
c.1524+33687G>T (n.1524+33687G>T)
c.1482G>T (p.Val494=)
c.1098G>T (p.Val366=)
dbSNP
1g.97515873C>GCA419142919DPYDc.1593G>C (p.Val531=)
c.1524+33687G>C (n.1524+33687G>C)
c.1482G>C (p.Val494=)
c.1098G>C (p.Val366=)
1g.97515873C>TCA419142921DPYDc.1593G>A (p.Val531=)
c.1524+33687G>A (n.1524+33687G>A)
c.1482G>A (p.Val494=)
c.1098G>A (p.Val366=)
gnomAD v4
1g.97515874A>CCA341378490DPYDc.1592T>G (p.Val531Gly)
c.1524+33686T>G (n.1524+33686T>G)
c.1481T>G (p.Val494Gly)
c.1097T>G (p.Val366Gly)
1g.97515874A>GCA341378491DPYDc.1592T>C (p.Val531Ala)
c.1524+33686T>C (n.1524+33686T>C)
c.1481T>C (p.Val494Ala)
c.1097T>C (p.Val366Ala)
1g.97515874A>TCA341378493DPYDc.1592T>A (p.Val531Glu)
c.1524+33686T>A (n.1524+33686T>A)
c.1481T>A (p.Val494Glu)
c.1097T>A (p.Val366Glu)
1g.97515875C>ACA341378498DPYDc.1591G>T (p.Val531Leu)
c.1524+33685G>T (n.1524+33685G>T)
c.1480G>T (p.Val494Leu)
c.1096G>T (p.Val366Leu)
dbSNP
1g.97515875C>GCA341378497DPYDc.1591G>C (p.Val531Leu)
c.1524+33685G>C (n.1524+33685G>C)
c.1480G>C (p.Val494Leu)
c.1096G>C (p.Val366Leu)
dbSNP gnomAD v4
1g.97515875C>TCA341378496DPYDc.1591G>A (p.Val531Met)
c.1524+33685G>A (n.1524+33685G>A)
c.1480G>A (p.Val494Met)
c.1096G>A (p.Val366Met)
1g.97515876C>ACA419142930DPYDc.1590G>T (p.Leu530=)
c.1524+33684G>T (n.1524+33684G>T)
c.1479G>T (p.Leu493=)
c.1095G>T (p.Leu365=)
dbSNP
1g.97515876C>GCA419142931DPYDc.1590G>C (p.Leu530=)
c.1524+33684G>C (n.1524+33684G>C)
c.1479G>C (p.Leu493=)
c.1095G>C (p.Leu365=)
dbSNP
1g.97515876C>TCA419142933DPYDc.1590G>A (p.Leu530=)
c.1524+33684G>A (n.1524+33684G>A)
c.1479G>A (p.Leu493=)
c.1095G>A (p.Leu365=)
gnomAD v4
1g.97515877A>CCA341378501DPYDc.1589T>G (p.Leu530Arg)
c.1524+33683T>G (n.1524+33683T>G)
c.1478T>G (p.Leu493Arg)
c.1094T>G (p.Leu365Arg)
1g.97515877A>GCA341378502DPYDc.1589T>C (p.Leu530Pro)
c.1524+33683T>C (n.1524+33683T>C)
c.1478T>C (p.Leu493Pro)
c.1094T>C (p.Leu365Pro)
1g.97515877A>TCA341378503DPYDc.1589T>A (p.Leu530Gln)
c.1524+33683T>A (n.1524+33683T>A)
c.1478T>A (p.Leu493Gln)
c.1094T>A (p.Leu365Gln)
1g.97515878G>ACA419142936DPYDc.1588C>T (p.Leu530=)
c.1524+33682C>T (n.1524+33682C>T)
c.1477C>T (p.Leu493=)
c.1093C>T (p.Leu365=)
dbSNP
1g.97515878G>CCA341378504DPYDc.1588C>G (p.Leu530Val)
c.1524+33682C>G (n.1524+33682C>G)
c.1477C>G (p.Leu493Val)
c.1093C>G (p.Leu365Val)
dbSNP
1g.97515878G>TCA341378506DPYDc.1588C>A (p.Leu530Met)
c.1524+33682C>A (n.1524+33682C>A)
c.1477C>A (p.Leu493Met)
c.1093C>A (p.Leu365Met)
1g.97515879A=CA1141722896DPYDc.1587T= (p.Asp529=)
c.1524+33681T= (n.1524+33681T=)
c.1476T= (p.Asp492=)
c.1092T= (p.Asp364=)
1g.97515879A>CCA341378508DPYDc.1587T>G (p.Asp529Glu)
c.1524+33681T>G (n.1524+33681T>G)
c.1476T>G (p.Asp492Glu)
c.1092T>G (p.Asp364Glu)
1g.97515879A>GCA963294DPYDc.1587T>C (p.Asp529=)
c.1524+33681T>C (n.1524+33681T>C)
c.1476T>C (p.Asp492=)
c.1092T>C (p.Asp364=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515879A>TCA341378511DPYDc.1587T>A (p.Asp529Glu)
c.1524+33681T>A (n.1524+33681T>A)
c.1476T>A (p.Asp492Glu)
c.1092T>A (p.Asp364Glu)
1g.97515880T>ACA341378512DPYDc.1586A>T (p.Asp529Val)
c.1524+33680A>T (n.1524+33680A>T)
c.1475A>T (p.Asp492Val)
c.1091A>T (p.Asp364Val)
dbSNP
1g.97515880T>CCA341378513DPYDc.1586A>G (p.Asp529Gly)
c.1524+33680A>G (n.1524+33680A>G)
c.1475A>G (p.Asp492Gly)
c.1091A>G (p.Asp364Gly)
dbSNP
1g.97515880T>GCA341378514DPYDc.1586A>C (p.Asp529Ala)
c.1524+33680A>C (n.1524+33680A>C)
c.1475A>C (p.Asp492Ala)
c.1091A>C (p.Asp364Ala)
dbSNP
1g.97515881C>ACA341378517DPYDc.1585G>T (p.Asp529Tyr)
c.1524+33679G>T (n.1524+33679G>T)
c.1474G>T (p.Asp492Tyr)
c.1090G>T (p.Asp364Tyr)
dbSNP
1g.97515881C=CA1182902302DPYDc.1585G= (p.Asp529=)
c.1524+33679G= (n.1524+33679G=)
c.1474G= (p.Asp492=)
c.1090G= (p.Asp364=)
1g.97515881C>GCA341378516DPYDc.1585G>C (p.Asp529His)
c.1524+33679G>C (n.1524+33679G>C)
c.1474G>C (p.Asp492His)
c.1090G>C (p.Asp364His)
dbSNP gnomAD v2 gnomAD v4
1g.97515881C>TCA341378515DPYDc.1585G>A (p.Asp529Asn)
c.1524+33679G>A (n.1524+33679G>A)
c.1474G>A (p.Asp492Asn)
c.1090G>A (p.Asp364Asn)
gnomAD v4
1g.97515882A>CCA341378518DPYDc.1584T>G (p.Ile528Met)
c.1524+33678T>G (n.1524+33678T>G)
c.1473T>G (p.Ile491Met)
c.1089T>G (p.Ile363Met)
1g.97515882A>GCA419142950DPYDc.1584T>C (p.Ile528=)
c.1524+33678T>C (n.1524+33678T>C)
c.1473T>C (p.Ile491=)
c.1089T>C (p.Ile363=)
gnomAD v4
1g.97515882A>TCA419142952DPYDc.1584T>A (p.Ile528=)
c.1524+33678T>A (n.1524+33678T>A)
c.1473T>A (p.Ile491=)
c.1089T>A (p.Ile363=)
1g.97515883A=CA1182902303DPYDc.1583T= (p.Ile528=)
c.1524+33677T= (n.1524+33677T=)
c.1472T= (p.Ile491=)
c.1088T= (p.Ile363=)
1g.97515883A>CCA341378519DPYDc.1583T>G (p.Ile528Ser)
c.1524+33677T>G (n.1524+33677T>G)
c.1472T>G (p.Ile491Ser)
c.1088T>G (p.Ile363Ser)
1g.97515883A>GCA341378520DPYDc.1583T>C (p.Ile528Thr)
c.1524+33677T>C (n.1524+33677T>C)
c.1472T>C (p.Ile491Thr)
c.1088T>C (p.Ile363Thr)
1g.97515883A>TCA341378521DPYDc.1583T>A (p.Ile528Asn)
c.1524+33677T>A (n.1524+33677T>A)
c.1472T>A (p.Ile491Asn)
c.1088T>A (p.Ile363Asn)
dbSNP gnomAD v2 gnomAD v4
1g.97515884T>ACA341378523DPYDc.1582A>T (p.Ile528Phe)
c.1524+33676A>T (n.1524+33676A>T)
c.1471A>T (p.Ile491Phe)
c.1087A>T (p.Ile363Phe)
1g.97515884T>CCA341378524DPYDc.1582A>G (p.Ile528Val)
c.1524+33676A>G (n.1524+33676A>G)
c.1471A>G (p.Ile491Val)
c.1087A>G (p.Ile363Val)
dbSNP gnomAD v2 gnomAD v4
1g.97515884T>GCA341378526DPYDc.1582A>C (p.Ile528Leu)
c.1524+33676A>C (n.1524+33676A>C)
c.1471A>C (p.Ile491Leu)
c.1087A>C (p.Ile363Leu)
1g.97515884T=CA1182902304DPYDc.1582A= (p.Ile528=)
c.1524+33676A= (n.1524+33676A=)
c.1471A= (p.Ile491=)
c.1087A= (p.Ile363=)
1g.97515885A>CCA419142960DPYDc.1581T>G (p.Pro527=)
c.1524+33675T>G (n.1524+33675T>G)
c.1470T>G (p.Pro490=)
c.1086T>G (p.Pro362=)
1g.97515885A>GCA419142962DPYDc.1581T>C (p.Pro527=)
c.1524+33675T>C (n.1524+33675T>C)
c.1470T>C (p.Pro490=)
c.1086T>C (p.Pro362=)
gnomAD v4
1g.97515885A>TCA419142964DPYDc.1581T>A (p.Pro527=)
c.1524+33675T>A (n.1524+33675T>A)
c.1470T>A (p.Pro490=)
c.1086T>A (p.Pro362=)
1g.97515886G>ACA10610865DPYDc.1580C>T (p.Pro527Leu)
c.1524+33674C>T (n.1524+33674C>T)
c.1469C>T (p.Pro490Leu)
c.1085C>T (p.Pro362Leu)
ClinVar dbSNP
1g.97515886G>CCA341378527DPYDc.1580C>G (p.Pro527Arg)
c.1524+33674C>G (n.1524+33674C>G)
c.1469C>G (p.Pro490Arg)
c.1085C>G (p.Pro362Arg)
1g.97515886G=CA1182902305DPYDc.1580C= (p.Pro527=)
c.1524+33674C= (n.1524+33674C=)
c.1469C= (p.Pro490=)
c.1085C= (p.Pro362=)
1g.97515886G>TCA341378528DPYDc.1580C>A (p.Pro527His)
c.1524+33674C>A (n.1524+33674C>A)
c.1469C>A (p.Pro490His)
c.1085C>A (p.Pro362His)
1g.97515887G>ACA341378529DPYDc.1579C>T (p.Pro527Ser)
c.1524+33673C>T (n.1524+33673C>T)
c.1468C>T (p.Pro490Ser)
c.1084C>T (p.Pro362Ser)
dbSNP gnomAD v4
1g.97515887G>CCA341378531DPYDc.1579C>G (p.Pro527Ala)
c.1524+33673C>G (n.1524+33673C>G)
c.1468C>G (p.Pro490Ala)
c.1084C>G (p.Pro362Ala)
dbSNP gnomAD v4
1g.97515887G=CA1182902306DPYDc.1579C= (p.Pro527=)
c.1524+33673C= (n.1524+33673C=)
c.1468C= (p.Pro490=)
c.1084C= (p.Pro362=)
1g.97515887G>TCA341378533DPYDc.1579C>A (p.Pro527Thr)
c.1524+33673C>A (n.1524+33673C>A)
c.1468C>A (p.Pro490Thr)
c.1084C>A (p.Pro362Thr)
1g.97515888A>CCA419142972DPYDc.1578T>G (p.Thr526=)
c.1524+33672T>G (n.1524+33672T>G)
c.1467T>G (p.Thr489=)
c.1083T>G (p.Thr361=)
1g.97515888A>GCA419142974DPYDc.1578T>C (p.Thr526=)
c.1524+33672T>C (n.1524+33672T>C)
c.1467T>C (p.Thr489=)
c.1083T>C (p.Thr361=)
1g.97515888A>TCA419142976DPYDc.1578T>A (p.Thr526=)
c.1524+33672T>A (n.1524+33672T>A)
c.1467T>A (p.Thr489=)
c.1083T>A (p.Thr361=)
1g.97515889G>ACA341378536DPYDc.1577C>T (p.Thr526Ile)
c.1524+33671C>T (n.1524+33671C>T)
c.1466C>T (p.Thr489Ile)
c.1082C>T (p.Thr361Ile)
1g.97515889G>CCA963295DPYDc.1577C>G (p.Thr526Ser)
c.1524+33671C>G (n.1524+33671C>G)
c.1466C>G (p.Thr489Ser)
c.1082C>G (p.Thr361Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515889G=CA1143181487DPYDc.1577C= (p.Thr526=)
c.1524+33671C= (n.1524+33671C=)
c.1466C= (p.Thr489=)
c.1082C= (p.Thr361=)
1g.97515889G>TCA341378534DPYDc.1577C>A (p.Thr526Asn)
c.1524+33671C>A (n.1524+33671C>A)
c.1466C>A (p.Thr489Asn)
c.1082C>A (p.Thr361Asn)
dbSNP gnomAD v2 gnomAD v4
1g.97515890T>ACA341378538DPYDc.1576A>T (p.Thr526Ser)
c.1524+33670A>T (n.1524+33670A>T)
c.1465A>T (p.Thr489Ser)
c.1081A>T (p.Thr361Ser)
1g.97515890T>CCA341378539DPYDc.1576A>G (p.Thr526Ala)
c.1524+33670A>G (n.1524+33670A>G)
c.1465A>G (p.Thr489Ala)
c.1081A>G (p.Thr361Ala)
dbSNP gnomAD v3 gnomAD v4
1g.97515890T>GCA341378540DPYDc.1576A>C (p.Thr526Pro)
c.1524+33670A>C (n.1524+33670A>C)
c.1465A>C (p.Thr489Pro)
c.1081A>C (p.Thr361Pro)
1g.97515890T=CA1182902307DPYDc.1576A= (p.Thr526=)
c.1524+33670A= (n.1524+33670A=)
c.1465A= (p.Thr489=)
c.1081A= (p.Thr361=)
1g.97515891G>ACA963296DPYDc.1575C>T (p.Tyr525=)
c.1524+33669C>T (n.1524+33669C>T)
c.1464C>T (p.Tyr488=)
c.1080C>T (p.Tyr360=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515891G>CCA341378541DPYDc.1575C>G (p.Tyr525Ter)
c.1524+33669C>G (n.1524+33669C>G)
c.1464C>G (p.Tyr488Ter)
c.1080C>G (p.Tyr360Ter)
ClinVar
1g.97515891G=CA1182902308DPYDc.1575C= (p.Tyr525=)
c.1524+33669C= (n.1524+33669C=)
c.1464C= (p.Tyr488=)
c.1080C= (p.Tyr360=)
1g.97515891G>TCA341378542DPYDc.1575C>A (p.Tyr525Ter)
c.1524+33669C>A (n.1524+33669C>A)
c.1464C>A (p.Tyr488Ter)
c.1080C>A (p.Tyr360Ter)
1g.97515892T>ACA341378544DPYDc.1574A>T (p.Tyr525Phe)
c.1524+33668A>T (n.1524+33668A>T)
c.1463A>T (p.Tyr488Phe)
c.1079A>T (p.Tyr360Phe)
dbSNP
1g.97515892T>CCA341378546DPYDc.1574A>G (p.Tyr525Cys)
c.1524+33668A>G (n.1524+33668A>G)
c.1463A>G (p.Tyr488Cys)
c.1079A>G (p.Tyr360Cys)
COSMIC
1g.97515892T>GCA341378547DPYDc.1574A>C (p.Tyr525Ser)
c.1524+33668A>C (n.1524+33668A>C)
c.1463A>C (p.Tyr488Ser)
c.1079A>C (p.Tyr360Ser)
1g.97515893A=CA1182902309DPYDc.1573T= (p.Tyr525=)
c.1524+33667T= (n.1524+33667T=)
c.1462T= (p.Tyr488=)
c.1078T= (p.Tyr360=)
1g.97515893A>CCA341378549DPYDc.1573T>G (p.Tyr525Asp)
c.1524+33667T>G (n.1524+33667T>G)
c.1462T>G (p.Tyr488Asp)
c.1078T>G (p.Tyr360Asp)
1g.97515893A>GCA963297DPYDc.1573T>C (p.Tyr525His)
c.1524+33667T>C (n.1524+33667T>C)
c.1462T>C (p.Tyr488His)
c.1078T>C (p.Tyr360His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515893A>TCA341378552DPYDc.1573T>A (p.Tyr525Asn)
c.1524+33667T>A (n.1524+33667T>A)
c.1462T>A (p.Tyr488Asn)
c.1078T>A (p.Tyr360Asn)
1g.97515894A=CA1182902310DPYDc.1572T= (p.Phe524=)
c.1524+33666T= (n.1524+33666T=)
c.1461T= (p.Phe487=)
c.1077T= (p.Phe359=)
1g.97515894A>CCA963298DPYDc.1572T>G (p.Phe524Leu)
c.1524+33666T>G (n.1524+33666T>G)
c.1461T>G (p.Phe487Leu)
c.1077T>G (p.Phe359Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515894A>GCA419142995DPYDc.1572T>C (p.Phe524=)
c.1524+33666T>C (n.1524+33666T>C)
c.1461T>C (p.Phe487=)
c.1077T>C (p.Phe359=)
1g.97515894A>TCA341378553DPYDc.1572T>A (p.Phe524Leu)
c.1524+33666T>A (n.1524+33666T>A)
c.1461T>A (p.Phe487Leu)
c.1077T>A (p.Phe359Leu)
1g.97515895A>CCA341378556DPYDc.1571T>G (p.Phe524Cys)
c.1524+33665T>G (n.1524+33665T>G)
c.1460T>G (p.Phe487Cys)
c.1076T>G (p.Phe359Cys)
1g.97515895A>GCA341378565DPYDc.1571T>C (p.Phe524Ser)
c.1524+33665T>C (n.1524+33665T>C)
c.1460T>C (p.Phe487Ser)
c.1076T>C (p.Phe359Ser)
1g.97515895A>TCA341378561DPYDc.1571T>A (p.Phe524Tyr)
c.1524+33665T>A (n.1524+33665T>A)
c.1460T>A (p.Phe487Tyr)
c.1076T>A (p.Phe359Tyr)
1g.97515896A>CCA341378566DPYDc.1570T>G (p.Phe524Val)
c.1524+33664T>G (n.1524+33664T>G)
c.1459T>G (p.Phe487Val)
c.1075T>G (p.Phe359Val)
1g.97515896A>GCA341378568DPYDc.1570T>C (p.Phe524Leu)
c.1524+33664T>C (n.1524+33664T>C)
c.1459T>C (p.Phe487Leu)
c.1075T>C (p.Phe359Leu)
dbSNP
1g.97515896A>TCA341378570DPYDc.1570T>A (p.Phe524Ile)
c.1524+33664T>A (n.1524+33664T>A)
c.1459T>A (p.Phe487Ile)
c.1075T>A (p.Phe359Ile)
1g.97515897G>ACA419143006DPYDc.1569C>T (p.Leu523=)
c.1524+33663C>T (n.1524+33663C>T)
c.1458C>T (p.Leu486=)
c.1074C>T (p.Leu358=)
dbSNP gnomAD v4
1g.97515897G>CCA419143007DPYDc.1569C>G (p.Leu523=)
c.1524+33663C>G (n.1524+33663C>G)
c.1458C>G (p.Leu486=)
c.1074C>G (p.Leu358=)
dbSNP
1g.97515897G=CA1182902311DPYDc.1569C= (p.Leu523=)
c.1524+33663C= (n.1524+33663C=)
c.1458C= (p.Leu486=)
c.1074C= (p.Leu358=)
1g.97515897G>TCA419143009DPYDc.1569C>A (p.Leu523=)
c.1524+33663C>A (n.1524+33663C>A)
c.1458C>A (p.Leu486=)
c.1074C>A (p.Leu358=)
1g.97515898A>CCA341378573DPYDc.1568T>G (p.Leu523Arg)
c.1524+33662T>G (n.1524+33662T>G)
c.1457T>G (p.Leu486Arg)
c.1073T>G (p.Leu358Arg)
1g.97515898A>GCA341378574DPYDc.1568T>C (p.Leu523Pro)
c.1524+33662T>C (n.1524+33662T>C)
c.1457T>C (p.Leu486Pro)
c.1073T>C (p.Leu358Pro)
gnomAD v4
1g.97515898A>TCA341378576DPYDc.1568T>A (p.Leu523His)
c.1524+33662T>A (n.1524+33662T>A)
c.1457T>A (p.Leu486His)
c.1073T>A (p.Leu358His)

Number of alleles fetched