Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.66398462C>A | CA396194082 | CDH5 | c.1492C>A (p.Leu498Met) c.-192C>A (n.-192C>A) c.*615C>A (n.*615C>A) c.1147C>A (p.Leu383Met) c.1519C>A (p.Leu507Met) | gnomAD v4 |
16 | g.66398462C>G | CA396194083 | CDH5 | c.1492C>G (p.Leu498Val) c.-192C>G (n.-192C>G) c.*615C>G (n.*615C>G) c.1147C>G (p.Leu383Val) c.1519C>G (p.Leu507Val) | |
16 | g.66398462C>T | CA495916038 | CDH5 | c.1492C>T (p.Leu498=) c.-192C>T (n.-192C>T) c.*615C>T (n.*615C>T) c.1147C>T (p.Leu383=) c.1519C>T (p.Leu507=) | |
16 | g.66398463T>A | CA396194085 | CDH5 | c.1493T>A (p.Leu498Gln) c.-191T>A (n.-191T>A) c.*616T>A (n.*616T>A) c.1148T>A (p.Leu383Gln) c.1520T>A (p.Leu507Gln) | |
16 | g.66398463T>C | CA396194086 | CDH5 | c.1493T>C (p.Leu498Pro) c.-191T>C (n.-191T>C) c.*616T>C (n.*616T>C) c.1148T>C (p.Leu383Pro) c.1520T>C (p.Leu507Pro) | |
16 | g.66398463T>G | CA396194088 | CDH5 | c.1493T>G (p.Leu498Arg) c.-191T>G (n.-191T>G) c.*616T>G (n.*616T>G) c.1148T>G (p.Leu383Arg) c.1520T>G (p.Leu507Arg) | |
16 | g.66398464G>A | CA495916063 | CDH5 | c.1494G>A (p.Leu498=) c.-190G>A (n.-190G>A) c.*617G>A (n.*617G>A) c.1149G>A (p.Leu383=) c.1521G>A (p.Leu507=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.66398464G>C | CA495916059 | CDH5 | c.1494G>C (p.Leu498=) c.-190G>C (n.-190G>C) c.*617G>C (n.*617G>C) c.1149G>C (p.Leu383=) c.1521G>C (p.Leu507=) | |
16 | g.66398464G= | CA2228852383 | CDH5 | c.1494G= (p.Leu498=) c.-190G= (n.-190G=) c.*617G= (n.*617G=) c.1149G= (p.Leu383=) c.1521G= (p.Leu507=) | |
16 | g.66398464G>T | CA495916055 | CDH5 | c.1494G>T (p.Leu498=) c.-190G>T (n.-190G>T) c.*617G>T (n.*617G>T) c.1149G>T (p.Leu383=) c.1521G>T (p.Leu507=) | |
16 | g.66398465del | CA2633642066 | CDH5 | c.1495del (p.Gln499ArgfsTer5) c.-189del (n.-189del) c.*618del (n.*618del) c.1150del (p.Gln384ArgfsTer5) c.1522del (p.Gln508ArgfsTer5) | gnomAD v4 |
16 | g.66398465C>A | CA396194090 | CDH5 | c.1495C>A (p.Gln499Lys) c.-189C>A (n.-189C>A) c.*618C>A (n.*618C>A) c.1150C>A (p.Gln384Lys) c.1522C>A (p.Gln508Lys) | gnomAD v4 |
16 | g.66398465C>G | CA396194091 | CDH5 | c.1495C>G (p.Gln499Glu) c.-189C>G (n.-189C>G) c.*618C>G (n.*618C>G) c.1150C>G (p.Gln384Glu) c.1522C>G (p.Gln508Glu) | |
16 | g.66398465C>T | CA396194093 | CDH5 | c.1495C>T (p.Gln499Ter) c.-189C>T (n.-189C>T) c.*618C>T (n.*618C>T) c.1150C>T (p.Gln384Ter) c.1522C>T (p.Gln508Ter) | |
16 | g.66398466A= | CA2228852386 | CDH5 | c.1496A= (p.Gln499=) c.-188A= (n.-188A=) c.*619A= (n.*619A=) c.1151A= (p.Gln384=) c.1523A= (p.Gln508=) | |
16 | g.66398466A>C | CA396194097 | CDH5 | c.1496A>C (p.Gln499Pro) c.-188A>C (n.-188A>C) c.*619A>C (n.*619A>C) c.1151A>C (p.Gln384Pro) c.1523A>C (p.Gln508Pro) | |
16 | g.66398466A>G | CA396194094 | CDH5 | c.1496A>G (p.Gln499Arg) c.-188A>G (n.-188A>G) c.*619A>G (n.*619A>G) c.1151A>G (p.Gln384Arg) c.1523A>G (p.Gln508Arg) | dbSNP gnomAD v4 |
16 | g.66398466A>T | CA396194095 | CDH5 | c.1496A>T (p.Gln499Leu) c.-188A>T (n.-188A>T) c.*619A>T (n.*619A>T) c.1151A>T (p.Gln384Leu) c.1523A>T (p.Gln508Leu) | dbSNP |
16 | g.66398467G>A | CA495916102 | CDH5 | c.1497G>A (p.Gln499=) c.-187G>A (n.-187G>A) c.*620G>A (n.*620G>A) c.1152G>A (p.Gln384=) c.1524G>A (p.Gln508=) | |
16 | g.66398467G>C | CA396194098 | CDH5 | c.1497G>C (p.Gln499His) c.-187G>C (n.-187G>C) c.*620G>C (n.*620G>C) c.1152G>C (p.Gln384His) c.1524G>C (p.Gln508His) | |
16 | g.66398467G>T | CA396194100 | CDH5 | c.1497G>T (p.Gln499His) c.-187G>T (n.-187G>T) c.*620G>T (n.*620G>T) c.1152G>T (p.Gln384His) c.1524G>T (p.Gln508His) | gnomAD v4 |
16 | g.66398468A= | CA2228852391 | CDH5 | c.1498A= (p.Ile500=) c.-186A= (n.-186A=) c.*621A= (n.*621A=) c.1153A= (p.Ile385=) c.1525A= (p.Ile509=) | |
16 | g.66398468A>C | CA396194102 | CDH5 | c.1498A>C (p.Ile500Leu) c.-186A>C (n.-186A>C) c.*621A>C (n.*621A>C) c.1153A>C (p.Ile385Leu) c.1525A>C (p.Ile509Leu) | COSMIC |
16 | g.66398468A>G | CA396194103 | CDH5 | c.1498A>G (p.Ile500Val) c.-186A>G (n.-186A>G) c.*621A>G (n.*621A>G) c.1153A>G (p.Ile385Val) c.1525A>G (p.Ile509Val) | |
16 | g.66398468A>T | CA8093093 | CDH5 | c.1498A>T (p.Ile500Phe) c.-186A>T (n.-186A>T) c.*621A>T (n.*621A>T) c.1153A>T (p.Ile385Phe) c.1525A>T (p.Ile509Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.66398469T>A | CA396194105 | CDH5 | c.1499T>A (p.Ile500Asn) c.-185T>A (n.-185T>A) c.*622T>A (n.*622T>A) c.1154T>A (p.Ile385Asn) c.1526T>A (p.Ile509Asn) | |
16 | g.66398469T>C | CA396194107 | CDH5 | c.1499T>C (p.Ile500Thr) c.-185T>C (n.-185T>C) c.*622T>C (n.*622T>C) c.1154T>C (p.Ile385Thr) c.1526T>C (p.Ile509Thr) | |
16 | g.66398469T>G | CA396194106 | CDH5 | c.1499T>G (p.Ile500Ser) c.-185T>G (n.-185T>G) c.*622T>G (n.*622T>G) c.1154T>G (p.Ile385Ser) c.1526T>G (p.Ile509Ser) | |
16 | g.66398470C>A | CA495916133 | CDH5 | c.1500C>A (p.Ile500=) c.-184C>A (n.-184C>A) c.*623C>A (n.*623C>A) c.1155C>A (p.Ile385=) c.1527C>A (p.Ile509=) | gnomAD v4 |
16 | g.66398470C>G | CA396194109 | CDH5 | c.1500C>G (p.Ile500Met) c.-184C>G (n.-184C>G) c.*623C>G (n.*623C>G) c.1155C>G (p.Ile385Met) c.1527C>G (p.Ile509Met) | |
16 | g.66398470C>T | CA495916134 | CDH5 | c.1500C>T (p.Ile500=) c.-184C>T (n.-184C>T) c.*623C>T (n.*623C>T) c.1155C>T (p.Ile385=) c.1527C>T (p.Ile509=) | gnomAD v4 |
16 | g.66398471T>A | CA396194110 | CDH5 | c.1501T>A (p.Ser501Thr) c.-183T>A (n.-183T>A) c.*624T>A (n.*624T>A) c.1156T>A (p.Ser386Thr) c.1528T>A (p.Ser510Thr) | |
16 | g.66398471T>C | CA396194112 | CDH5 | c.1501T>C (p.Ser501Pro) c.-183T>C (n.-183T>C) c.*624T>C (n.*624T>C) c.1156T>C (p.Ser386Pro) c.1528T>C (p.Ser510Pro) | gnomAD v4 |
16 | g.66398471T>G | CA396194113 | CDH5 | c.1501T>G (p.Ser501Ala) c.-183T>G (n.-183T>G) c.*624T>G (n.*624T>G) c.1156T>G (p.Ser386Ala) c.1528T>G (p.Ser510Ala) | |
16 | g.66398472C>A | CA396194114 | CDH5 | c.1502C>A (p.Ser501Tyr) c.-182C>A (n.-182C>A) c.*625C>A (n.*625C>A) c.1157C>A (p.Ser386Tyr) c.1529C>A (p.Ser510Tyr) | |
16 | g.66398472C>G | CA396194115 | CDH5 | c.1502C>G (p.Ser501Cys) c.-182C>G (n.-182C>G) c.*625C>G (n.*625C>G) c.1157C>G (p.Ser386Cys) c.1529C>G (p.Ser510Cys) | |
16 | g.66398472C>T | CA396194116 | CDH5 | c.1502C>T (p.Ser501Phe) c.-182C>T (n.-182C>T) c.*625C>T (n.*625C>T) c.1157C>T (p.Ser386Phe) c.1529C>T (p.Ser510Phe) | |
16 | g.66398473C>A | CA495916146 | CDH5 | c.1503C>A (p.Ser501=) c.-181C>A (n.-181C>A) c.*626C>A (n.*626C>A) c.1158C>A (p.Ser386=) c.1530C>A (p.Ser510=) | gnomAD v4 |
16 | g.66398473C= | CA2228852394 | CDH5 | c.1503C= (p.Ser501=) c.-181C= (n.-181C=) c.*626C= (n.*626C=) c.1158C= (p.Ser386=) c.1530C= (p.Ser510=) | |
16 | g.66398473C>G | CA495916166 | CDH5 | c.1503C>G (p.Ser501=) c.-181C>G (n.-181C>G) c.*626C>G (n.*626C>G) c.1158C>G (p.Ser386=) c.1530C>G (p.Ser510=) | |
16 | g.66398473C>T | CA8093094 | CDH5 | c.1503C>T (p.Ser501=) c.-181C>T (n.-181C>T) c.*626C>T (n.*626C>T) c.1158C>T (p.Ser386=) c.1530C>T (p.Ser510=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.66398474G>A | CA8093095 | CDH5 | c.1504G>A (p.Ala502Thr) c.-180G>A (n.-180G>A) c.*627G>A (n.*627G>A) c.1159G>A (p.Ala387Thr) c.1531G>A (p.Ala511Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.66398474G>C | CA396194119 | CDH5 | c.1504G>C (p.Ala502Pro) c.-180G>C (n.-180G>C) c.*627G>C (n.*627G>C) c.1159G>C (p.Ala387Pro) c.1531G>C (p.Ala511Pro) | COSMIC |
16 | g.66398474G= | CA2228852397 | CDH5 | c.1504G= (p.Ala502=) c.-180G= (n.-180G=) c.*627G= (n.*627G=) c.1159G= (p.Ala387=) c.1531G= (p.Ala511=) | |
16 | g.66398474G>T | CA396194120 | CDH5 | c.1504G>T (p.Ala502Ser) c.-180G>T (n.-180G>T) c.*627G>T (n.*627G>T) c.1159G>T (p.Ala387Ser) c.1531G>T (p.Ala511Ser) | dbSNP gnomAD v4 |
16 | g.66398475C>A | CA396194124 | CDH5 | c.1505C>A (p.Ala502Glu) c.-179C>A (n.-179C>A) c.*628C>A (n.*628C>A) c.1160C>A (p.Ala387Glu) c.1532C>A (p.Ala511Glu) | gnomAD v4 |
16 | g.66398475C>G | CA396194122 | CDH5 | c.1505C>G (p.Ala502Gly) c.-179C>G (n.-179C>G) c.*628C>G (n.*628C>G) c.1160C>G (p.Ala387Gly) c.1532C>G (p.Ala511Gly) | |
16 | g.66398475C>T | CA396194121 | CDH5 | c.1505C>T (p.Ala502Val) c.-179C>T (n.-179C>T) c.*628C>T (n.*628C>T) c.1160C>T (p.Ala387Val) c.1532C>T (p.Ala511Val) | |
16 | g.66398476A>C | CA495916210 | CDH5 | c.1506A>C (p.Ala502=) c.-178A>C (n.-178A>C) c.*629A>C (n.*629A>C) c.1161A>C (p.Ala387=) c.1533A>C (p.Ala511=) | |
16 | g.66398476A>G | CA495916216 | CDH5 | c.1506A>G (p.Ala502=) c.-178A>G (n.-178A>G) c.*629A>G (n.*629A>G) c.1161A>G (p.Ala387=) c.1533A>G (p.Ala511=) | |
16 | g.66398476A>T | CA495916222 | CDH5 | c.1506A>T (p.Ala502=) c.-178A>T (n.-178A>T) c.*629A>T (n.*629A>T) c.1161A>T (p.Ala387=) c.1533A>T (p.Ala511=) | |
16 | g.66398477A>C | CA396194126 | CDH5 | c.1507A>C (p.Ile503Leu) c.-177A>C (n.-177A>C) c.*630A>C (n.*630A>C) c.1162A>C (p.Ile388Leu) c.1534A>C (p.Ile512Leu) | |
16 | g.66398477A>G | CA396194129 | CDH5 | c.1507A>G (p.Ile503Val) c.-177A>G (n.-177A>G) c.*630A>G (n.*630A>G) c.1162A>G (p.Ile388Val) c.1534A>G (p.Ile512Val) | |
16 | g.66398477A>T | CA396194127 | CDH5 | c.1507A>T (p.Ile503Leu) c.-177A>T (n.-177A>T) c.*630A>T (n.*630A>T) c.1162A>T (p.Ile388Leu) c.1534A>T (p.Ile512Leu) | |
16 | g.66398478T>A | CA396194131 | CDH5 | c.1508T>A (p.Ile503Lys) c.-176T>A (n.-176T>A) c.*631T>A (n.*631T>A) c.1163T>A (p.Ile388Lys) c.1535T>A (p.Ile512Lys) | gnomAD v4 |
16 | g.66398478T>C | CA8093096 | CDH5 | c.1508T>C (p.Ile503Thr) c.-176T>C (n.-176T>C) c.*631T>C (n.*631T>C) c.1163T>C (p.Ile388Thr) c.1535T>C (p.Ile512Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.66398478T>G | CA396194133 | CDH5 | c.1508T>G (p.Ile503Arg) c.-176T>G (n.-176T>G) c.*631T>G (n.*631T>G) c.1163T>G (p.Ile388Arg) c.1535T>G (p.Ile512Arg) | |
16 | g.66398478T= | CA2228852400 | CDH5 | c.1508T= (p.Ile503=) c.-176T= (n.-176T=) c.*631T= (n.*631T=) c.1163T= (p.Ile388=) c.1535T= (p.Ile512=) | |
16 | g.66398479A>C | CA495916255 | CDH5 | c.1509A>C (p.Ile503=) c.-175A>C (n.-175A>C) c.*632A>C (n.*632A>C) c.1164A>C (p.Ile388=) c.1536A>C (p.Ile512=) | |
16 | g.66398479A>G | CA396194135 | CDH5 | c.1509A>G (p.Ile503Met) c.-175A>G (n.-175A>G) c.*632A>G (n.*632A>G) c.1164A>G (p.Ile388Met) c.1536A>G (p.Ile512Met) | |
16 | g.66398479A>T | CA495916250 | CDH5 | c.1509A>T (p.Ile503=) c.-175A>T (n.-175A>T) c.*632A>T (n.*632A>T) c.1164A>T (p.Ile388=) c.1536A>T (p.Ile512=) | |
16 | g.66398480G>A | CA396194136 | CDH5 | c.1510G>A (p.Asp504Asn) c.-174G>A (n.-174G>A) c.*633G>A (n.*633G>A) c.1165G>A (p.Asp389Asn) c.1537G>A (p.Asp513Asn) | gnomAD v4 |
16 | g.66398480G>C | CA396194138 | CDH5 | c.1510G>C (p.Asp504His) c.-174G>C (n.-174G>C) c.*633G>C (n.*633G>C) c.1165G>C (p.Asp389His) c.1537G>C (p.Asp513His) | |
16 | g.66398480G>T | CA396194139 | CDH5 | c.1510G>T (p.Asp504Tyr) c.-174G>T (n.-174G>T) c.*633G>T (n.*633G>T) c.1165G>T (p.Asp389Tyr) c.1537G>T (p.Asp513Tyr) | |
16 | g.66398481A>C | CA396194141 | CDH5 | c.1511A>C (p.Asp504Ala) c.-173A>C (n.-173A>C) c.*634A>C (n.*634A>C) c.1166A>C (p.Asp389Ala) c.1538A>C (p.Asp513Ala) | |
16 | g.66398481A>G | CA396194142 | CDH5 | c.1511A>G (p.Asp504Gly) c.-173A>G (n.-173A>G) c.*634A>G (n.*634A>G) c.1166A>G (p.Asp389Gly) c.1538A>G (p.Asp513Gly) | |
16 | g.66398481A>T | CA396194143 | CDH5 | c.1511A>T (p.Asp504Val) c.-173A>T (n.-173A>T) c.*634A>T (n.*634A>T) c.1166A>T (p.Asp389Val) c.1538A>T (p.Asp513Val) | |
16 | g.66398482C>A | CA396194145 | CDH5 | c.1512C>A (p.Asp504Glu) c.-172C>A (n.-172C>A) c.*635C>A (n.*635C>A) c.1167C>A (p.Asp389Glu) c.1539C>A (p.Asp513Glu) | gnomAD v4 |
16 | g.66398482C= | CA2228852404 | CDH5 | c.1512C= (p.Asp504=) c.-172C= (n.-172C=) c.*635C= (n.*635C=) c.1167C= (p.Asp389=) c.1539C= (p.Asp513=) | |
16 | g.66398482C>G | CA396194146 | CDH5 | c.1512C>G (p.Asp504Glu) c.-172C>G (n.-172C>G) c.*635C>G (n.*635C>G) c.1167C>G (p.Asp389Glu) c.1539C>G (p.Asp513Glu) | |
16 | g.66398482C>T | CA8093097 | CDH5 | c.1512C>T (p.Asp504=) c.-172C>T (n.-172C>T) c.*635C>T (n.*635C>T) c.1167C>T (p.Asp389=) c.1539C>T (p.Asp513=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.66398483A= | CA2228852406 | CDH5 | c.1513A= (p.Lys505=) c.-171A= (n.-171A=) c.*636A= (n.*636A=) c.1168A= (p.Lys390=) c.1540A= (p.Lys514=) | |
16 | g.66398483A>C | CA396194148 | CDH5 | c.1513A>C (p.Lys505Gln) c.-171A>C (n.-171A>C) c.*636A>C (n.*636A>C) c.1168A>C (p.Lys390Gln) c.1540A>C (p.Lys514Gln) | |
16 | g.66398483A>G | CA396194150 | CDH5 | c.1513A>G (p.Lys505Glu) c.-171A>G (n.-171A>G) c.*636A>G (n.*636A>G) c.1168A>G (p.Lys390Glu) c.1540A>G (p.Lys514Glu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.66398483A>T | CA396194152 | CDH5 | c.1513A>T (p.Lys505Ter) c.-171A>T (n.-171A>T) c.*636A>T (n.*636A>T) c.1168A>T (p.Lys390Ter) c.1540A>T (p.Lys514Ter) | |
16 | g.66398484A= | CA2228852408 | CDH5 | c.1514A= (p.Lys505=) c.-170A= (n.-170A=) c.*637A= (n.*637A=) c.1169A= (p.Lys390=) c.1541A= (p.Lys514=) | |
16 | g.66398484A>C | CA396194156 | CDH5 | c.1514A>C (p.Lys505Thr) c.-170A>C (n.-170A>C) c.*637A>C (n.*637A>C) c.1169A>C (p.Lys390Thr) c.1541A>C (p.Lys514Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.66398484A>G | CA396194154 | CDH5 | c.1514A>G (p.Lys505Arg) c.-170A>G (n.-170A>G) c.*637A>G (n.*637A>G) c.1169A>G (p.Lys390Arg) c.1541A>G (p.Lys514Arg) | |
16 | g.66398484A>T | CA396194153 | CDH5 | c.1514A>T (p.Lys505Met) c.-170A>T (n.-170A>T) c.*637A>T (n.*637A>T) c.1169A>T (p.Lys390Met) c.1541A>T (p.Lys514Met) | |
16 | g.66398485G>A | CA495916299 | CDH5 | c.1515G>A (p.Lys505=) c.-169G>A (n.-169G>A) c.*638G>A (n.*638G>A) c.1170G>A (p.Lys390=) c.1542G>A (p.Lys514=) | gnomAD v4 |
16 | g.66398485G>C | CA396194158 | CDH5 | c.1515G>C (p.Lys505Asn) c.-169G>C (n.-169G>C) c.*638G>C (n.*638G>C) c.1170G>C (p.Lys390Asn) c.1542G>C (p.Lys514Asn) | |
16 | g.66398485G>T | CA396194159 | CDH5 | c.1515G>T (p.Lys505Asn) c.-169G>T (n.-169G>T) c.*638G>T (n.*638G>T) c.1170G>T (p.Lys390Asn) c.1542G>T (p.Lys514Asn) | gnomAD v4 |
16 | g.66398486G>A | CA396194161 | CDH5 | c.1516G>A (p.Asp506Asn) c.-168G>A (n.-168G>A) c.*639G>A (n.*639G>A) c.1171G>A (p.Asp391Asn) c.1543G>A (p.Asp515Asn) | COSMIC |
16 | g.66398486G>C | CA396194163 | CDH5 | c.1516G>C (p.Asp506His) c.-168G>C (n.-168G>C) c.*639G>C (n.*639G>C) c.1171G>C (p.Asp391His) c.1543G>C (p.Asp515His) | |
16 | g.66398486G>T | CA396194164 | CDH5 | c.1516G>T (p.Asp506Tyr) c.-168G>T (n.-168G>T) c.*639G>T (n.*639G>T) c.1171G>T (p.Asp391Tyr) c.1543G>T (p.Asp515Tyr) | |
16 | g.66398487A>C | CA396194166 | CDH5 | c.1517A>C (p.Asp506Ala) c.-167A>C (n.-167A>C) c.*640A>C (n.*640A>C) c.1172A>C (p.Asp391Ala) c.1544A>C (p.Asp515Ala) | gnomAD v4 |
16 | g.66398487A>G | CA396194167 | CDH5 | c.1517A>G (p.Asp506Gly) c.-167A>G (n.-167A>G) c.*640A>G (n.*640A>G) c.1172A>G (p.Asp391Gly) c.1544A>G (p.Asp515Gly) | gnomAD v4 |
16 | g.66398487A>T | CA396194168 | CDH5 | c.1517A>T (p.Asp506Val) c.-167A>T (n.-167A>T) c.*640A>T (n.*640A>T) c.1172A>T (p.Asp391Val) c.1544A>T (p.Asp515Val) | COSMIC |
16 | g.66398488C>A | CA396194170 | CDH5 | c.1518C>A (p.Asp506Glu) c.-166C>A (n.-166C>A) c.*641C>A (n.*641C>A) c.1173C>A (p.Asp391Glu) c.1545C>A (p.Asp515Glu) | gnomAD v4 |
16 | g.66398488C>G | CA396194171 | CDH5 | c.1518C>G (p.Asp506Glu) c.-166C>G (n.-166C>G) c.*641C>G (n.*641C>G) c.1173C>G (p.Asp391Glu) c.1545C>G (p.Asp515Glu) | |
16 | g.66398488C>T | CA495916348 | CDH5 | c.1518C>T (p.Asp506=) c.-166C>T (n.-166C>T) c.*641C>T (n.*641C>T) c.1173C>T (p.Asp391=) c.1545C>T (p.Asp515=) | |
16 | g.66398489A= | CA2228852409 | CDH5 | c.1519A= (p.Ile507=) c.-165A= (n.-165A=) c.*642A= (n.*642A=) c.1174A= (p.Ile392=) c.1546A= (p.Ile516=) | |
16 | g.66398489A>C | CA396194173 | CDH5 | c.1519A>C (p.Ile507Leu) c.-165A>C (n.-165A>C) c.*642A>C (n.*642A>C) c.1174A>C (p.Ile392Leu) c.1546A>C (p.Ile516Leu) | |
16 | g.66398489A>G | CA8093098 | CDH5 | c.1519A>G (p.Ile507Val) c.-165A>G (n.-165A>G) c.*642A>G (n.*642A>G) c.1174A>G (p.Ile392Val) c.1546A>G (p.Ile516Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.66398489A>T | CA396194175 | CDH5 | c.1519A>T (p.Ile507Leu) c.-165A>T (n.-165A>T) c.*642A>T (n.*642A>T) c.1174A>T (p.Ile392Leu) c.1546A>T (p.Ile516Leu) | |
16 | g.66398490T>A | CA396194177 | CDH5 | c.1520T>A (p.Ile507Lys) c.-164T>A (n.-164T>A) c.*643T>A (n.*643T>A) c.1175T>A (p.Ile392Lys) c.1547T>A (p.Ile516Lys) | |
16 | g.66398490T>C | CA396194178 | CDH5 | c.1520T>C (p.Ile507Thr) c.-164T>C (n.-164T>C) c.*643T>C (n.*643T>C) c.1175T>C (p.Ile392Thr) c.1547T>C (p.Ile516Thr) | |
16 | g.66398490T>G | CA396194176 | CDH5 | c.1520T>G (p.Ile507Arg) c.-164T>G (n.-164T>G) c.*643T>G (n.*643T>G) c.1175T>G (p.Ile392Arg) c.1547T>G (p.Ile516Arg) | |
16 | g.66398491A>C | CA495916374 | CDH5 | c.1521A>C (p.Ile507=) c.-163A>C (n.-163A>C) c.*644A>C (n.*644A>C) c.1176A>C (p.Ile392=) c.1548A>C (p.Ile516=) | |
16 | g.66398491A>G | CA396194179 | CDH5 | c.1521A>G (p.Ile507Met) c.-163A>G (n.-163A>G) c.*644A>G (n.*644A>G) c.1176A>G (p.Ile392Met) c.1548A>G (p.Ile516Met) | |
16 | g.66398491A>T | CA495916376 | CDH5 | c.1521A>T (p.Ile507=) c.-163A>T (n.-163A>T) c.*644A>T (n.*644A>T) c.1176A>T (p.Ile392=) c.1548A>T (p.Ile516=) | |
16 | g.66398492A>C | CA396194181 | CDH5 | c.1522A>C (p.Thr508Pro) c.-162A>C (n.-162A>C) c.*645A>C (n.*645A>C) c.1177A>C (p.Thr393Pro) c.1549A>C (p.Thr517Pro) | |
16 | g.66398492A>G | CA396194182 | CDH5 | c.1522A>G (p.Thr508Ala) c.-162A>G (n.-162A>G) c.*645A>G (n.*645A>G) c.1177A>G (p.Thr393Ala) c.1549A>G (p.Thr517Ala) | |
16 | g.66398492A>T | CA396194183 | CDH5 | c.1522A>T (p.Thr508Ser) c.-162A>T (n.-162A>T) c.*645A>T (n.*645A>T) c.1177A>T (p.Thr393Ser) c.1549A>T (p.Thr517Ser) | |
16 | g.66398493C>A | CA396194185 | CDH5 | c.1523C>A (p.Thr508Lys) c.-161C>A (n.-161C>A) c.*646C>A (n.*646C>A) c.1178C>A (p.Thr393Lys) c.1550C>A (p.Thr517Lys) | gnomAD v4 |
16 | g.66398493C>G | CA396194186 | CDH5 | c.1523C>G (p.Thr508Arg) c.-161C>G (n.-161C>G) c.*646C>G (n.*646C>G) c.1178C>G (p.Thr393Arg) c.1550C>G (p.Thr517Arg) | |
16 | g.66398493C>T | CA396194188 | CDH5 | c.1523C>T (p.Thr508Ile) c.-161C>T (n.-161C>T) c.*646C>T (n.*646C>T) c.1178C>T (p.Thr393Ile) c.1550C>T (p.Thr517Ile) | gnomAD v4 |
16 | g.66398494A>C | CA495916400 | CDH5 | c.1524A>C (p.Thr508=) c.-160A>C (n.-160A>C) c.*647A>C (n.*647A>C) c.1179A>C (p.Thr393=) c.1551A>C (p.Thr517=) | |
16 | g.66398494A>G | CA495916405 | CDH5 | c.1524A>G (p.Thr508=) c.-160A>G (n.-160A>G) c.*647A>G (n.*647A>G) c.1179A>G (p.Thr393=) c.1551A>G (p.Thr517=) | |
16 | g.66398494A>T | CA495916408 | CDH5 | c.1524A>T (p.Thr508=) c.-160A>T (n.-160A>T) c.*647A>T (n.*647A>T) c.1179A>T (p.Thr393=) c.1551A>T (p.Thr517=) | |
16 | g.66398495C>A | CA396194190 | CDH5 | c.1525C>A (p.Pro509Thr) c.-159C>A (n.-159C>A) c.*648C>A (n.*648C>A) c.1180C>A (p.Pro394Thr) c.1552C>A (p.Pro518Thr) | gnomAD v4 |
16 | g.66398495C= | CA2228852411 | CDH5 | c.1525C= (p.Pro509=) c.-159C= (n.-159C=) c.*648C= (n.*648C=) c.1180C= (p.Pro394=) c.1552C= (p.Pro518=) | |
16 | g.66398495C>G | CA396194192 | CDH5 | c.1525C>G (p.Pro509Ala) c.-159C>G (n.-159C>G) c.*648C>G (n.*648C>G) c.1180C>G (p.Pro394Ala) c.1552C>G (p.Pro518Ala) | |
16 | g.66398495C>T | CA396194193 | CDH5 | c.1525C>T (p.Pro509Ser) c.-159C>T (n.-159C>T) c.*648C>T (n.*648C>T) c.1180C>T (p.Pro394Ser) c.1552C>T (p.Pro518Ser) | dbSNP gnomAD v4 |
16 | g.66398496del | CA2633642107 | CDH5 | c.1526del (p.Pro509HisfsTer4) c.-158del (n.-158del) c.*649del (n.*649del) c.1181del (p.Pro394HisfsTer4) c.1553del (p.Pro518HisfsTer4) | gnomAD v4 |
16 | g.66398496C>A | CA396194194 | CDH5 | c.1526C>A (p.Pro509Gln) c.-158C>A (n.-158C>A) c.*649C>A (n.*649C>A) c.1181C>A (p.Pro394Gln) c.1553C>A (p.Pro518Gln) | gnomAD v4 |
16 | g.66398496C>G | CA396194196 | CDH5 | c.1526C>G (p.Pro509Arg) c.-158C>G (n.-158C>G) c.*649C>G (n.*649C>G) c.1181C>G (p.Pro394Arg) c.1553C>G (p.Pro518Arg) | |
16 | g.66398496C>T | CA396194198 | CDH5 | c.1526C>T (p.Pro509Leu) c.-158C>T (n.-158C>T) c.*649C>T (n.*649C>T) c.1181C>T (p.Pro394Leu) c.1553C>T (p.Pro518Leu) | gnomAD v4 |
16 | g.66398497A>C | CA495916443 | CDH5 | c.1527A>C (p.Pro509=) c.-157A>C (n.-157A>C) c.*650A>C (n.*650A>C) c.1182A>C (p.Pro394=) c.1554A>C (p.Pro518=) | gnomAD v4 |
16 | g.66398497A>G | CA495916446 | CDH5 | c.1527A>G (p.Pro509=) c.-157A>G (n.-157A>G) c.*650A>G (n.*650A>G) c.1182A>G (p.Pro394=) c.1554A>G (p.Pro518=) | gnomAD v4 |
16 | g.66398497A>T | CA495916450 | CDH5 | c.1527A>T (p.Pro509=) c.-157A>T (n.-157A>T) c.*650A>T (n.*650A>T) c.1182A>T (p.Pro394=) c.1554A>T (p.Pro518=) | |
16 | g.66398498C>A | CA8093099 | CDH5 | c.1528C>A (p.Arg510=) c.-156C>A (n.-156C>A) c.*651C>A (n.*651C>A) c.1183C>A (p.Arg395=) c.1555C>A (p.Arg519=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.66398498C= | CA2228852414 | CDH5 | c.1528C= (p.Arg510=) c.-156C= (n.-156C=) c.*651C= (n.*651C=) c.1183C= (p.Arg395=) c.1555C= (p.Arg519=) | |
16 | g.66398498C>G | CA396194200 | CDH5 | c.1528C>G (p.Arg510Gly) c.-156C>G (n.-156C>G) c.*651C>G (n.*651C>G) c.1183C>G (p.Arg395Gly) c.1555C>G (p.Arg519Gly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.66398498C>T | CA282186582 | CDH5 | c.1528C>T (p.Arg510Ter) c.-156C>T (n.-156C>T) c.*651C>T (n.*651C>T) c.1183C>T (p.Arg395Ter) c.1555C>T (p.Arg519Ter) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.66398499G>A | CA8093100 | CDH5 | c.1529G>A (p.Arg510Gln) c.-155G>A (n.-155G>A) c.*652G>A (n.*652G>A) c.1184G>A (p.Arg395Gln) c.1556G>A (p.Arg519Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.66398499G>C | CA396194203 | CDH5 | c.1529G>C (p.Arg510Pro) c.-155G>C (n.-155G>C) c.*652G>C (n.*652G>C) c.1184G>C (p.Arg395Pro) c.1556G>C (p.Arg519Pro) | dbSNP gnomAD v4 |
16 | g.66398499G= | CA2228852418 | CDH5 | c.1529G= (p.Arg510=) c.-155G= (n.-155G=) c.*652G= (n.*652G=) c.1184G= (p.Arg395=) c.1556G= (p.Arg519=) | |
16 | g.66398499G>T | CA396194204 | CDH5 | c.1529G>T (p.Arg510Leu) c.-155G>T (n.-155G>T) c.*652G>T (n.*652G>T) c.1184G>T (p.Arg395Leu) c.1556G>T (p.Arg519Leu) | |
16 | g.66398500A>C | CA495916480 | CDH5 | c.1530A>C (p.Arg510=) c.-154A>C (n.-154A>C) c.*653A>C (n.*653A>C) c.1185A>C (p.Arg395=) c.1557A>C (p.Arg519=) | |
16 | g.66398500A>G | CA495916475 | CDH5 | c.1530A>G (p.Arg510=) c.-154A>G (n.-154A>G) c.*653A>G (n.*653A>G) c.1185A>G (p.Arg395=) c.1557A>G (p.Arg519=) | |
16 | g.66398500A>T | CA495916470 | CDH5 | c.1530A>T (p.Arg510=) c.-154A>T (n.-154A>T) c.*653A>T (n.*653A>T) c.1185A>T (p.Arg395=) c.1557A>T (p.Arg519=) | |
16 | g.66398501A>C | CA396194206 | CDH5 | c.1531A>C (p.Asn511His) c.-153A>C (n.-153A>C) c.*654A>C (n.*654A>C) c.1186A>C (p.Asn396His) c.1558A>C (p.Asn520His) | |
16 | g.66398501A>G | CA396194207 | CDH5 | c.1531A>G (p.Asn511Asp) c.-153A>G (n.-153A>G) c.*654A>G (n.*654A>G) c.1186A>G (p.Asn396Asp) c.1558A>G (p.Asn520Asp) | |
16 | g.66398501A>T | CA396194208 | CDH5 | c.1531A>T (p.Asn511Tyr) c.-153A>T (n.-153A>T) c.*654A>T (n.*654A>T) c.1186A>T (p.Asn396Tyr) c.1558A>T (p.Asn520Tyr) | |
16 | g.66398502A>C | CA396194209 | CDH5 | c.1532A>C (p.Asn511Thr) c.-152A>C (n.-152A>C) c.*655A>C (n.*655A>C) c.1187A>C (p.Asn396Thr) c.1559A>C (p.Asn520Thr) | |
16 | g.66398502A>G | CA396194210 | CDH5 | c.1532A>G (p.Asn511Ser) c.-152A>G (n.-152A>G) c.*655A>G (n.*655A>G) c.1187A>G (p.Asn396Ser) c.1559A>G (p.Asn520Ser) | |
16 | g.66398502A>T | CA396194212 | CDH5 | c.1532A>T (p.Asn511Ile) c.-152A>T (n.-152A>T) c.*655A>T (n.*655A>T) c.1187A>T (p.Asn396Ile) c.1559A>T (p.Asn520Ile) | |
16 | g.66398503C>A | CA396194216 | CDH5 | c.1533C>A (p.Asn511Lys) c.-151C>A (n.-151C>A) c.*656C>A (n.*656C>A) c.1188C>A (p.Asn396Lys) c.1560C>A (p.Asn520Lys) | gnomAD v4 |
16 | g.66398503C= | CA2228852420 | CDH5 | c.1533C= (p.Asn511=) c.-151C= (n.-151C=) c.*656C= (n.*656C=) c.1188C= (p.Asn396=) c.1560C= (p.Asn520=) | |
16 | g.66398503C>G | CA396194215 | CDH5 | c.1533C>G (p.Asn511Lys) c.-151C>G (n.-151C>G) c.*656C>G (n.*656C>G) c.1188C>G (p.Asn396Lys) c.1560C>G (p.Asn520Lys) | |
16 | g.66398503C>T | CA8093101 | CDH5 | c.1533C>T (p.Asn511=) c.-151C>T (n.-151C>T) c.*656C>T (n.*656C>T) c.1188C>T (p.Asn396=) c.1560C>T (p.Asn520=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.66398504G>A | CA8093102 | CDH5 | c.1534G>A (p.Val512Met) c.-150G>A (n.-150G>A) c.*657G>A (n.*657G>A) c.1189G>A (p.Val397Met) c.1561G>A (p.Val521Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.66398504G>C | CA396194221 | CDH5 | c.1534G>C (p.Val512Leu) c.-150G>C (n.-150G>C) c.*657G>C (n.*657G>C) c.1189G>C (p.Val397Leu) c.1561G>C (p.Val521Leu) | gnomAD v4 |
16 | g.66398504G= | CA2228852422 | CDH5 | c.1534G= (p.Val512=) c.-150G= (n.-150G=) c.*657G= (n.*657G=) c.1189G= (p.Val397=) c.1561G= (p.Val521=) | |
16 | g.66398504G>T | CA396194219 | CDH5 | c.1534G>T (p.Val512Leu) c.-150G>T (n.-150G>T) c.*657G>T (n.*657G>T) c.1189G>T (p.Val397Leu) c.1561G>T (p.Val521Leu) | |
16 | g.66398505T>A | CA396194222 | CDH5 | c.1535T>A (p.Val512Glu) c.-149T>A (n.-149T>A) c.*658T>A (n.*658T>A) c.1190T>A (p.Val397Glu) c.1562T>A (p.Val521Glu) | |
16 | g.66398505T>C | CA396194223 | CDH5 | c.1535T>C (p.Val512Ala) c.-149T>C (n.-149T>C) c.*658T>C (n.*658T>C) c.1190T>C (p.Val397Ala) c.1562T>C (p.Val521Ala) | |
16 | g.66398505T>G | CA396194226 | CDH5 | c.1535T>G (p.Val512Gly) c.-149T>G (n.-149T>G) c.*658T>G (n.*658T>G) c.1190T>G (p.Val397Gly) c.1562T>G (p.Val521Gly) | |
16 | g.66398506G>A | CA495916536 | CDH5 | c.1536G>A (p.Val512=) c.-148G>A (n.-148G>A) c.*659G>A (n.*659G>A) c.1191G>A (p.Val397=) c.1563G>A (p.Val521=) | |
16 | g.66398506G>C | CA495916530 | CDH5 | c.1536G>C (p.Val512=) c.-148G>C (n.-148G>C) c.*659G>C (n.*659G>C) c.1191G>C (p.Val397=) c.1563G>C (p.Val521=) | |
16 | g.66398506G>T | CA495916533 | CDH5 | c.1536G>T (p.Val512=) c.-148G>T (n.-148G>T) c.*659G>T (n.*659G>T) c.1191G>T (p.Val397=) c.1563G>T (p.Val521=) | |
16 | g.66398507A>C | CA396194227 | CDH5 | c.1537A>C (p.Lys513Gln) c.-147A>C (n.-147A>C) c.*660A>C (n.*660A>C) c.1192A>C (p.Lys398Gln) c.1564A>C (p.Lys522Gln) | |
16 | g.66398507A>G | CA396194228 | CDH5 | c.1537A>G (p.Lys513Glu) c.-147A>G (n.-147A>G) c.*660A>G (n.*660A>G) c.1192A>G (p.Lys398Glu) c.1564A>G (p.Lys522Glu) | |
16 | g.66398507A>T | CA396194229 | CDH5 | c.1537A>T (p.Lys513Ter) c.-147A>T (n.-147A>T) c.*660A>T (n.*660A>T) c.1192A>T (p.Lys398Ter) c.1564A>T (p.Lys522Ter) | |
16 | g.66398508A>C | CA396194230 | CDH5 | c.1538A>C (p.Lys513Thr) c.-146A>C (n.-146A>C) c.*661A>C (n.*661A>C) c.1193A>C (p.Lys398Thr) c.1565A>C (p.Lys522Thr) | |
16 | g.66398508A>G | CA396194232 | CDH5 | c.1538A>G (p.Lys513Arg) c.-146A>G (n.-146A>G) c.*661A>G (n.*661A>G) c.1193A>G (p.Lys398Arg) c.1565A>G (p.Lys522Arg) | gnomAD v4 |
16 | g.66398508A>T | CA396194233 | CDH5 | c.1538A>T (p.Lys513Met) c.-146A>T (n.-146A>T) c.*661A>T (n.*661A>T) c.1193A>T (p.Lys398Met) c.1565A>T (p.Lys522Met) | |
16 | g.66398509G>A | CA495916553 | CDH5 | c.1539G>A (p.Lys513=) c.-145G>A (n.-145G>A) c.*662G>A (n.*662G>A) c.1194G>A (p.Lys398=) c.1566G>A (p.Lys522=) | gnomAD v4 |
16 | g.66398509G>C | CA396194234 | CDH5 | c.1539G>C (p.Lys513Asn) c.-145G>C (n.-145G>C) c.*662G>C (n.*662G>C) c.1194G>C (p.Lys398Asn) c.1566G>C (p.Lys522Asn) | |
16 | g.66398509G>T | CA396194236 | CDH5 | c.1539G>T (p.Lys513Asn) c.-145G>T (n.-145G>T) c.*662G>T (n.*662G>T) c.1194G>T (p.Lys398Asn) c.1566G>T (p.Lys522Asn) | gnomAD v4 |
16 | g.66398510T>A | CA396194240 | CDH5 | c.1540T>A (p.Phe514Ile) c.-144T>A (n.-144T>A) c.*663T>A (n.*663T>A) c.1195T>A (p.Phe399Ile) c.1567T>A (p.Phe523Ile) | |
16 | g.66398510T>C | CA396194238 | CDH5 | c.1540T>C (p.Phe514Leu) c.-144T>C (n.-144T>C) c.*663T>C (n.*663T>C) c.1195T>C (p.Phe399Leu) c.1567T>C (p.Phe523Leu) | |
16 | g.66398510T>G | CA396194239 | CDH5 | c.1540T>G (p.Phe514Val) c.-144T>G (n.-144T>G) c.*663T>G (n.*663T>G) c.1195T>G (p.Phe399Val) c.1567T>G (p.Phe523Val) | |
16 | g.66398511T>A | CA396194242 | CDH5 | c.1541T>A (p.Phe514Tyr) c.-143T>A (n.-143T>A) c.*664T>A (n.*664T>A) c.1196T>A (p.Phe399Tyr) c.1568T>A (p.Phe523Tyr) | COSMIC |
16 | g.66398511T>C | CA396194243 | CDH5 | c.1541T>C (p.Phe514Ser) c.-143T>C (n.-143T>C) c.*664T>C (n.*664T>C) c.1196T>C (p.Phe399Ser) c.1568T>C (p.Phe523Ser) | |
16 | g.66398511T>G | CA396194245 | CDH5 | c.1541T>G (p.Phe514Cys) c.-143T>G (n.-143T>G) c.*664T>G (n.*664T>G) c.1196T>G (p.Phe399Cys) c.1568T>G (p.Phe523Cys) | |
16 | g.66398512C>A | CA396194246 | CDH5 | c.1542C>A (p.Phe514Leu) c.-142C>A (n.-142C>A) c.*665C>A (n.*665C>A) c.1197C>A (p.Phe399Leu) c.1569C>A (p.Phe523Leu) | gnomAD v4 |
16 | g.66398512C>G | CA396194247 | CDH5 | c.1542C>G (p.Phe514Leu) c.-142C>G (n.-142C>G) c.*665C>G (n.*665C>G) c.1197C>G (p.Phe399Leu) c.1569C>G (p.Phe523Leu) | |
16 | g.66398512C>T | CA495916601 | CDH5 | c.1542C>T (p.Phe514=) c.-142C>T (n.-142C>T) c.*665C>T (n.*665C>T) c.1197C>T (p.Phe399=) c.1569C>T (p.Phe523=) | gnomAD v4 |
16 | g.66398513A>C | CA396194248 | CDH5 | c.1543A>C (p.Lys515Gln) c.-141A>C (n.-141A>C) c.*666A>C (n.*666A>C) c.1198A>C (p.Lys400Gln) c.1570A>C (p.Lys524Gln) | |
16 | g.66398513A>G | CA396194249 | CDH5 | c.1543A>G (p.Lys515Glu) c.-141A>G (n.-141A>G) c.*666A>G (n.*666A>G) c.1198A>G (p.Lys400Glu) c.1570A>G (p.Lys524Glu) | gnomAD v4 COSMIC |
16 | g.66398513A>T | CA396194251 | CDH5 | c.1543A>T (p.Lys515Ter) c.-141A>T (n.-141A>T) c.*666A>T (n.*666A>T) c.1198A>T (p.Lys400Ter) c.1570A>T (p.Lys524Ter) | |
16 | g.66398514A>C | CA396194253 | CDH5 | c.1544A>C (p.Lys515Thr) c.-140A>C (n.-140A>C) c.*667A>C (n.*667A>C) c.1199A>C (p.Lys400Thr) c.1571A>C (p.Lys524Thr) | |
16 | g.66398514A>G | CA396194254 | CDH5 | c.1544A>G (p.Lys515Arg) c.-140A>G (n.-140A>G) c.*667A>G (n.*667A>G) c.1199A>G (p.Lys400Arg) c.1571A>G (p.Lys524Arg) | gnomAD v4 |
16 | g.66398514A>T | CA396194255 | CDH5 | c.1544A>T (p.Lys515Ile) c.-140A>T (n.-140A>T) c.*667A>T (n.*667A>T) c.1199A>T (p.Lys400Ile) c.1571A>T (p.Lys524Ile) | |
16 | g.66398515A>C | CA396194258 | CDH5 | c.1545A>C (p.Lys515Asn) c.-139A>C (n.-139A>C) c.*668A>C (n.*668A>C) c.1200A>C (p.Lys400Asn) c.1572A>C (p.Lys524Asn) | gnomAD v4 |
16 | g.66398515A>G | CA495916631 | CDH5 | c.1545A>G (p.Lys515=) c.-139A>G (n.-139A>G) c.*668A>G (n.*668A>G) c.1200A>G (p.Lys400=) c.1572A>G (p.Lys524=) | |
16 | g.66398515A>T | CA396194256 | CDH5 | c.1545A>T (p.Lys515Asn) c.-139A>T (n.-139A>T) c.*668A>T (n.*668A>T) c.1200A>T (p.Lys400Asn) c.1572A>T (p.Lys524Asn) | |
16 | g.66398516T>A | CA396194260 | CDH5 | c.1546T>A (p.Phe516Ile) c.-138T>A (n.-138T>A) c.*669T>A (n.*669T>A) c.1201T>A (p.Phe401Ile) c.1573T>A (p.Phe525Ile) | |
16 | g.66398516T>C | CA8093103 | CDH5 | c.1546T>C (p.Phe516Leu) c.-138T>C (n.-138T>C) c.*669T>C (n.*669T>C) c.1201T>C (p.Phe401Leu) c.1573T>C (p.Phe525Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.66398516T>G | CA396194262 | CDH5 | c.1546T>G (p.Phe516Val) c.-138T>G (n.-138T>G) c.*669T>G (n.*669T>G) c.1201T>G (p.Phe401Val) c.1573T>G (p.Phe525Val) | |
16 | g.66398516T= | CA2228852424 | CDH5 | c.1546T= (p.Phe516=) c.-138T= (n.-138T=) c.*669T= (n.*669T=) c.1201T= (p.Phe401=) c.1573T= (p.Phe525=) | |
16 | g.66398517T>A | CA396194263 | CDH5 | c.1547T>A (p.Phe516Tyr) c.-137T>A (n.-137T>A) c.*670T>A (n.*670T>A) c.1202T>A (p.Phe401Tyr) c.1574T>A (p.Phe525Tyr) | |
16 | g.66398517T>C | CA396194264 | CDH5 | c.1547T>C (p.Phe516Ser) c.-137T>C (n.-137T>C) c.*670T>C (n.*670T>C) c.1202T>C (p.Phe401Ser) c.1574T>C (p.Phe525Ser) | |
16 | g.66398517T>G | CA396194265 | CDH5 | c.1547T>G (p.Phe516Cys) c.-137T>G (n.-137T>G) c.*670T>G (n.*670T>G) c.1202T>G (p.Phe401Cys) c.1574T>G (p.Phe525Cys) | |
16 | g.66398518C>A | CA396194266 | CDH5 | c.1548C>A (p.Phe516Leu) c.-136C>A (n.-136C>A) c.*671C>A (n.*671C>A) c.1203C>A (p.Phe401Leu) c.1575C>A (p.Phe525Leu) | gnomAD v4 |
16 | g.66398518C>G | CA396194267 | CDH5 | c.1548C>G (p.Phe516Leu) c.-136C>G (n.-136C>G) c.*671C>G (n.*671C>G) c.1203C>G (p.Phe401Leu) c.1575C>G (p.Phe525Leu) | |
16 | g.66398518C>T | CA495916679 | CDH5 | c.1548C>T (p.Phe516=) c.-136C>T (n.-136C>T) c.*671C>T (n.*671C>T) c.1203C>T (p.Phe401=) c.1575C>T (p.Phe525=) | |
16 | g.66398519del | CA2633642165 | CDH5 | c.1549del (p.Ile517SerfsTer2) c.-135del (n.-135del) c.*672del (n.*672del) c.1204del (p.Ile402SerfsTer2) c.1576del (p.Ile526SerfsTer2) | gnomAD v4 |
16 | g.66398519A>C | CA396194269 | CDH5 | c.1549A>C (p.Ile517Leu) c.-135A>C (n.-135A>C) c.*672A>C (n.*672A>C) c.1204A>C (p.Ile402Leu) c.1576A>C (p.Ile526Leu) | |
16 | g.66398519A>G | CA396194271 | CDH5 | c.1549A>G (p.Ile517Val) c.-135A>G (n.-135A>G) c.*672A>G (n.*672A>G) c.1204A>G (p.Ile402Val) c.1576A>G (p.Ile526Val) | gnomAD v4 |
16 | g.66398519A>T | CA396194274 | CDH5 | c.1549A>T (p.Ile517Phe) c.-135A>T (n.-135A>T) c.*672A>T (n.*672A>T) c.1204A>T (p.Ile402Phe) c.1576A>T (p.Ile526Phe) | |
16 | g.66398519_66398520delinsAT | CA2228852425 | CDH5 | c.1549_1550delinsAT (p.Ile517=) c.-135_-134delinsAT (n.-135_-134delinsAT) c.*672_*673delinsAT (n.*672_*673delinsAT) c.1204_1205delinsAT (p.Ile402=) c.1576_1577delinsAT (p.Ile526=) | |
16 | g.66398520del | CA282186636 | CDH5 | c.1550del (p.Ile517ThrfsTer2) c.-134del (n.-134del) c.*673del (n.*673del) c.1205del (p.Ile402ThrfsTer2) c.1577del (p.Ile526ThrfsTer2) | dbSNP gnomAD v4 |
16 | g.66398520T>A | CA396194276 | CDH5 | c.1550T>A (p.Ile517Asn) c.-134T>A (n.-134T>A) c.*673T>A (n.*673T>A) c.1205T>A (p.Ile402Asn) c.1577T>A (p.Ile526Asn) | gnomAD v4 |
16 | g.66398520T>C | CA8093104 | CDH5 | c.1550T>C (p.Ile517Thr) c.-134T>C (n.-134T>C) c.*673T>C (n.*673T>C) c.1205T>C (p.Ile402Thr) c.1577T>C (p.Ile526Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.66398520T>G | CA396194278 | CDH5 | c.1550T>G (p.Ile517Ser) c.-134T>G (n.-134T>G) c.*673T>G (n.*673T>G) c.1205T>G (p.Ile402Ser) c.1577T>G (p.Ile526Ser) | gnomAD v4 |
16 | g.66398520T= | CA2228852428 | CDH5 | c.1550T= (p.Ile517=) c.-134T= (n.-134T=) c.*673T= (n.*673T=) c.1205T= (p.Ile402=) c.1577T= (p.Ile526=) | |
16 | g.66398520_66398521delinsCT | CA282186628 | CDH5 | c.1550_1551delinsCT (p.Ile517Thr) c.-134_-133delinsCT (n.-134_-133delinsCT) c.*673_*674delinsCT (n.*673_*674delinsCT) c.1205_1206delinsCT (p.Ile402Thr) c.1577_1578delinsCT (p.Ile526Thr) | dbSNP |
16 | g.66398520_66398521delinsTC | CA2228852429 | CDH5 | c.1550_1551delinsTC (p.Ile517=) c.-134_-133delinsTC (n.-134_-133delinsTC) c.*673_*674delinsTC (n.*673_*674delinsTC) c.1205_1206delinsTC (p.Ile402=) c.1577_1578delinsTC (p.Ile526=) | |
16 | g.66398521del | CA282186653 | CDH5 | c.1551del (p.Leu518Ter) c.-133del (n.-133del) c.*674del (n.*674del) c.1206del (p.Leu403Ter) c.1578del (p.Leu527Ter) | dbSNP |
16 | g.66398521C>A | CA282186654 | CDH5 | c.1551C>A (p.Ile517=) c.-133C>A (n.-133C>A) c.*674C>A (n.*674C>A) c.1206C>A (p.Ile402=) c.1578C>A (p.Ile526=) | dbSNP gnomAD v4 |
16 | g.66398521C= | CA2228852433 | CDH5 | c.1551C= (p.Ile517=) c.-133C= (n.-133C=) c.*674C= (n.*674C=) c.1206C= (p.Ile402=) c.1578C= (p.Ile526=) | |
16 | g.66398521C>G | CA282186655 | CDH5 | c.1551C>G (p.Ile517Met) c.-133C>G (n.-133C>G) c.*674C>G (n.*674C>G) c.1206C>G (p.Ile402Met) c.1578C>G (p.Ile526Met) | dbSNP |
16 | g.66398521C>T | CA8093105 | CDH5 | c.1551C>T (p.Ile517=) c.-133C>T (n.-133C>T) c.*674C>T (n.*674C>T) c.1206C>T (p.Ile402=) c.1578C>T (p.Ile526=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.66398522T>A | CA396194283 | CDH5 | c.1552T>A (p.Leu518Met) c.-132T>A (n.-132T>A) c.*675T>A (n.*675T>A) c.1207T>A (p.Leu403Met) c.1579T>A (p.Leu527Met) | |
16 | g.66398522T>C | CA495916748 | CDH5 | c.1552T>C (p.Leu518=) c.-132T>C (n.-132T>C) c.*675T>C (n.*675T>C) c.1207T>C (p.Leu403=) c.1579T>C (p.Leu527=) | gnomAD v4 |
16 | g.66398522T>G | CA396194285 | CDH5 | c.1552T>G (p.Leu518Val) c.-132T>G (n.-132T>G) c.*675T>G (n.*675T>G) c.1207T>G (p.Leu403Val) c.1579T>G (p.Leu527Val) | |
16 | g.66398523dup | CA2633642187 | CDH5 | c.1553dup (p.Leu518PhefsTer4) c.-131dup (n.-131dup) c.*676dup (n.*676dup) c.1208dup (p.Leu403PhefsTer4) c.1580dup (p.Leu527PhefsTer4) | gnomAD v4 |
16 | g.66398523T>A | CA396194287 | CDH5 | c.1553T>A (p.Leu518Ter) c.-131T>A (n.-131T>A) c.*676T>A (n.*676T>A) c.1208T>A (p.Leu403Ter) c.1580T>A (p.Leu527Ter) | |
16 | g.66398523T>C | CA396194290 | CDH5 | c.1553T>C (p.Leu518Ser) c.-131T>C (n.-131T>C) c.*676T>C (n.*676T>C) c.1208T>C (p.Leu403Ser) c.1580T>C (p.Leu527Ser) | |
16 | g.66398523T>G | CA396194292 | CDH5 | c.1553T>G (p.Leu518Trp) c.-131T>G (n.-131T>G) c.*676T>G (n.*676T>G) c.1208T>G (p.Leu403Trp) c.1580T>G (p.Leu527Trp) | |
16 | g.66398524G>A | CA495916769 | CDH5 | c.1554G>A (p.Leu518=) c.-130G>A (n.-130G>A) c.*677G>A (n.*677G>A) c.1209G>A (p.Leu403=) c.1581G>A (p.Leu527=) | gnomAD v4 COSMIC |
16 | g.66398524G>C | CA396194295 | CDH5 | c.1554G>C (p.Leu518Phe) c.-130G>C (n.-130G>C) c.*677G>C (n.*677G>C) c.1209G>C (p.Leu403Phe) c.1581G>C (p.Leu527Phe) | |
16 | g.66398524G>T | CA396194297 | CDH5 | c.1554G>T (p.Leu518Phe) c.-130G>T (n.-130G>T) c.*677G>T (n.*677G>T) c.1209G>T (p.Leu403Phe) c.1581G>T (p.Leu527Phe) | COSMIC |
16 | g.66398525A>C | CA396194307 | CDH5 | c.1555A>C (p.Asn519His) c.-129A>C (n.-129A>C) c.*678A>C (n.*678A>C) c.1210A>C (p.Asn404His) c.1582A>C (p.Asn528His) | |
16 | g.66398525A>G | CA396194308 | CDH5 | c.1555A>G (p.Asn519Asp) c.-129A>G (n.-129A>G) c.*678A>G (n.*678A>G) c.1210A>G (p.Asn404Asp) c.1582A>G (p.Asn528Asp) | gnomAD v4 |
16 | g.66398525A>T | CA396194311 | CDH5 | c.1555A>T (p.Asn519Tyr) c.-129A>T (n.-129A>T) c.*678A>T (n.*678A>T) c.1210A>T (p.Asn404Tyr) c.1582A>T (p.Asn528Tyr) | |
16 | g.66398526A= | CA2228852436 | CDH5 | c.1556A= (p.Asn519=) c.-128A= (n.-128A=) c.*679A= (n.*679A=) c.1211A= (p.Asn404=) c.1583A= (p.Asn528=) | |
16 | g.66398526A>C | CA396194314 | CDH5 | c.1556A>C (p.Asn519Thr) c.-128A>C (n.-128A>C) c.*679A>C (n.*679A>C) c.1211A>C (p.Asn404Thr) c.1583A>C (p.Asn528Thr) | gnomAD v4 |
16 | g.66398526A>G | CA396194316 | CDH5 | c.1556A>G (p.Asn519Ser) c.-128A>G (n.-128A>G) c.*679A>G (n.*679A>G) c.1211A>G (p.Asn404Ser) c.1583A>G (p.Asn528Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.66398526A>T | CA396194317 | CDH5 | c.1556A>T (p.Asn519Ile) c.-128A>T (n.-128A>T) c.*679A>T (n.*679A>T) c.1211A>T (p.Asn404Ile) c.1583A>T (p.Asn528Ile) | gnomAD v4 |
16 | g.66398527T>A | CA396194319 | CDH5 | c.1557T>A (p.Asn519Lys) c.-127T>A (n.-127T>A) c.*680T>A (n.*680T>A) c.1212T>A (p.Asn404Lys) c.1584T>A (p.Asn528Lys) | gnomAD v4 |
16 | g.66398527T>C | CA495916830 | CDH5 | c.1557T>C (p.Asn519=) c.-127T>C (n.-127T>C) c.*680T>C (n.*680T>C) c.1212T>C (p.Asn404=) c.1584T>C (p.Asn528=) | gnomAD v4 |
16 | g.66398527T>G | CA396194318 | CDH5 | c.1557T>G (p.Asn519Lys) c.-127T>G (n.-127T>G) c.*680T>G (n.*680T>G) c.1212T>G (p.Asn404Lys) c.1584T>G (p.Asn528Lys) | |
16 | g.66398528A>C | CA396194321 | CDH5 | c.1558A>C (p.Thr520Pro) c.-126A>C (n.-126A>C) c.*681A>C (n.*681A>C) c.1213A>C (p.Thr405Pro) c.1585A>C (p.Thr529Pro) | |
16 | g.66398528A>G | CA396194324 | CDH5 | c.1558A>G (p.Thr520Ala) c.-126A>G (n.-126A>G) c.*681A>G (n.*681A>G) c.1213A>G (p.Thr405Ala) c.1585A>G (p.Thr529Ala) | |
16 | g.66398528A>T | CA396194322 | CDH5 | c.1558A>T (p.Thr520Ser) c.-126A>T (n.-126A>T) c.*681A>T (n.*681A>T) c.1213A>T (p.Thr405Ser) c.1585A>T (p.Thr529Ser) | |
16 | g.66398529C>A | CA282186664 | CDH5 | c.1559C>A (p.Thr520Asn) c.-125C>A (n.-125C>A) c.*682C>A (n.*682C>A) c.1214C>A (p.Thr405Asn) c.1586C>A (p.Thr529Asn) | dbSNP gnomAD v4 |
16 | g.66398529C= | CA2228852453 | CDH5 | c.1559C= (p.Thr520=) c.-125C= (n.-125C=) c.*682C= (n.*682C=) c.1214C= (p.Thr405=) c.1586C= (p.Thr529=) | |
16 | g.66398529C>G | CA396194325 | CDH5 | c.1559C>G (p.Thr520Ser) c.-125C>G (n.-125C>G) c.*682C>G (n.*682C>G) c.1214C>G (p.Thr405Ser) c.1586C>G (p.Thr529Ser) | |
16 | g.66398529C>T | CA396194326 | CDH5 | c.1559C>T (p.Thr520Ile) c.-125C>T (n.-125C>T) c.*682C>T (n.*682C>T) c.1214C>T (p.Thr405Ile) c.1586C>T (p.Thr529Ile) | |
16 | g.66398530T>A | CA495916886 | CDH5 | c.1560T>A (p.Thr520=) c.-124T>A (n.-124T>A) c.*683T>A (n.*683T>A) c.1215T>A (p.Thr405=) c.1587T>A (p.Thr529=) | |
16 | g.66398530T>C | CA495916887 | CDH5 | c.1560T>C (p.Thr520=) c.-124T>C (n.-124T>C) c.*683T>C (n.*683T>C) c.1215T>C (p.Thr405=) c.1587T>C (p.Thr529=) | gnomAD v4 |
16 | g.66398530T>G | CA495916888 | CDH5 | c.1560T>G (p.Thr520=) c.-124T>G (n.-124T>G) c.*683T>G (n.*683T>G) c.1215T>G (p.Thr405=) c.1587T>G (p.Thr529=) | dbSNP gnomAD v4 |
16 | g.66398530T= | CA2228852455 | CDH5 | c.1560T= (p.Thr520=) c.-124T= (n.-124T=) c.*683T= (n.*683T=) c.1215T= (p.Thr405=) c.1587T= (p.Thr529=) | |
16 | g.66398531G>A | CA396194329 | CDH5 | c.1561G>A (p.Glu521Lys) c.-123G>A (n.-123G>A) c.*684G>A (n.*684G>A) c.1216G>A (p.Glu406Lys) c.1588G>A (p.Glu530Lys) | gnomAD v4 |
16 | g.66398531G>C | CA396194332 | CDH5 | c.1561G>C (p.Glu521Gln) c.-123G>C (n.-123G>C) c.*684G>C (n.*684G>C) c.1216G>C (p.Glu406Gln) c.1588G>C (p.Glu530Gln) | |
16 | g.66398531G>T | CA396194334 | CDH5 | c.1561G>T (p.Glu521Ter) c.-123G>T (n.-123G>T) c.*684G>T (n.*684G>T) c.1216G>T (p.Glu406Ter) c.1588G>T (p.Glu530Ter) | |
16 | g.66398533_66398534del | CA2633642208 | CDH5 | c.1563_1564del (p.Asn522GlnfsTer7) c.-121_-120del (n.-121_-120del) c.*686_*687del (n.*686_*687del) c.1218_1219del (p.Asn407GlnfsTer7) c.1590_1591del (p.Asn531GlnfsTer7) | gnomAD v4 |
16 | g.66398532A>C | CA396194341 | CDH5 | c.1562A>C (p.Glu521Ala) c.-122A>C (n.-122A>C) c.*685A>C (n.*685A>C) c.1217A>C (p.Glu406Ala) c.1589A>C (p.Glu530Ala) | |
16 | g.66398532A>G | CA396194337 | CDH5 | c.1562A>G (p.Glu521Gly) c.-122A>G (n.-122A>G) c.*685A>G (n.*685A>G) c.1217A>G (p.Glu406Gly) c.1589A>G (p.Glu530Gly) | gnomAD v4 |
16 | g.66398532A>T | CA396194339 | CDH5 | c.1562A>T (p.Glu521Val) c.-122A>T (n.-122A>T) c.*685A>T (n.*685A>T) c.1217A>T (p.Glu406Val) c.1589A>T (p.Glu530Val) | |
16 | g.66398533G>A | CA495916907 | CDH5 | c.1563G>A (p.Glu521=) c.-121G>A (n.-121G>A) c.*686G>A (n.*686G>A) c.1218G>A (p.Glu406=) c.1590G>A (p.Glu530=) | dbSNP gnomAD v4 |
16 | g.66398533G>C | CA396194343 | CDH5 | c.1563G>C (p.Glu521Asp) c.-121G>C (n.-121G>C) c.*686G>C (n.*686G>C) c.1218G>C (p.Glu406Asp) c.1590G>C (p.Glu530Asp) | gnomAD v4 |
16 | g.66398533G= | CA2228852457 | CDH5 | c.1563G= (p.Glu521=) c.-121G= (n.-121G=) c.*686G= (n.*686G=) c.1218G= (p.Glu406=) c.1590G= (p.Glu530=) | |
16 | g.66398533G>T | CA396194346 | CDH5 | c.1563G>T (p.Glu521Asp) c.-121G>T (n.-121G>T) c.*686G>T (n.*686G>T) c.1218G>T (p.Glu406Asp) c.1590G>T (p.Glu530Asp) | gnomAD v4 |
16 | g.66398534A>C | CA396194347 | CDH5 | c.1564A>C (p.Asn522His) c.-120A>C (n.-120A>C) c.*687A>C (n.*687A>C) c.1219A>C (p.Asn407His) c.1591A>C (p.Asn531His) | |
16 | g.66398534A>G | CA396194349 | CDH5 | c.1564A>G (p.Asn522Asp) c.-120A>G (n.-120A>G) c.*687A>G (n.*687A>G) c.1219A>G (p.Asn407Asp) c.1591A>G (p.Asn531Asp) | gnomAD v4 |
16 | g.66398534A>T | CA396194351 | CDH5 | c.1564A>T (p.Asn522Tyr) c.-120A>T (n.-120A>T) c.*687A>T (n.*687A>T) c.1219A>T (p.Asn407Tyr) c.1591A>T (p.Asn531Tyr) | gnomAD v4 |
16 | g.66398535A= | CA2228852462 | CDH5 | c.1565A= (p.Asn522=) c.-119A= (n.-119A=) c.*688A= (n.*688A=) c.1220A= (p.Asn407=) c.1592A= (p.Asn531=) | |
16 | g.66398535A>C | CA396194355 | CDH5 | c.1565A>C (p.Asn522Thr) c.-119A>C (n.-119A>C) c.*688A>C (n.*688A>C) c.1220A>C (p.Asn407Thr) c.1592A>C (p.Asn531Thr) | dbSNP |
16 | g.66398535A>G | CA396194353 | CDH5 | c.1565A>G (p.Asn522Ser) c.-119A>G (n.-119A>G) c.*688A>G (n.*688A>G) c.1220A>G (p.Asn407Ser) c.1592A>G (p.Asn531Ser) | gnomAD v4 |
16 | g.66398535A>T | CA396194354 | CDH5 | c.1565A>T (p.Asn522Ile) c.-119A>T (n.-119A>T) c.*688A>T (n.*688A>T) c.1220A>T (p.Asn407Ile) c.1592A>T (p.Asn531Ile) | |
16 | g.66398535_66398536delinsAC | CA2228852461 | CDH5 | c.1565_1566delinsAC (p.Asn522=) c.-119_-118delinsAC (n.-119_-118delinsAC) c.*688_*689delinsAC (n.*688_*689delinsAC) c.1220_1221delinsAC (p.Asn407=) c.1592_1593delinsAC (p.Asn531=) | |
16 | g.66398536del | CA282186675 | CDH5 | c.1566del (p.Asn522LysfsTer?) c.-118del (n.-118del) c.*689del (n.*689del) c.1221del (p.Asn407LysfsTer?) c.1593del (p.Asn531LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.66398536C>A | CA396194357 | CDH5 | c.1566C>A (p.Asn522Lys) c.-118C>A (n.-118C>A) c.*689C>A (n.*689C>A) c.1221C>A (p.Asn407Lys) c.1593C>A (p.Asn531Lys) | gnomAD v4 |
16 | g.66398536C>G | CA396194359 | CDH5 | c.1566C>G (p.Asn522Lys) c.-118C>G (n.-118C>G) c.*689C>G (n.*689C>G) c.1221C>G (p.Asn407Lys) c.1593C>G (p.Asn531Lys) | |
16 | g.66398536C>T | CA495916945 | CDH5 | c.1566C>T (p.Asn522=) c.-118C>T (n.-118C>T) c.*689C>T (n.*689C>T) c.1221C>T (p.Asn407=) c.1593C>T (p.Asn531=) | gnomAD v4 |
16 | g.66398537A>C | CA396194363 | CDH5 | c.1567A>C (p.Asn523His) c.-117A>C (n.-117A>C) c.*690A>C (n.*690A>C) c.1222A>C (p.Asn408His) c.1594A>C (p.Asn532His) | |
16 | g.66398537A>G | CA396194365 | CDH5 | c.1567A>G (p.Asn523Asp) c.-117A>G (n.-117A>G) c.*690A>G (n.*690A>G) c.1222A>G (p.Asn408Asp) c.1594A>G (p.Asn532Asp) | gnomAD v4 |
16 | g.66398537A>T | CA396194368 | CDH5 | c.1567A>T (p.Asn523Tyr) c.-117A>T (n.-117A>T) c.*690A>T (n.*690A>T) c.1222A>T (p.Asn408Tyr) c.1594A>T (p.Asn532Tyr) | |
16 | g.66398538A>C | CA396194370 | CDH5 | c.1568A>C (p.Asn523Thr) c.-116A>C (n.-116A>C) c.*691A>C (n.*691A>C) c.1223A>C (p.Asn408Thr) c.1595A>C (p.Asn532Thr) | |
16 | g.66398538A>G | CA396194374 | CDH5 | c.1568A>G (p.Asn523Ser) c.-116A>G (n.-116A>G) c.*691A>G (n.*691A>G) c.1223A>G (p.Asn408Ser) c.1595A>G (p.Asn532Ser) | gnomAD v4 |
16 | g.66398538A>T | CA396194376 | CDH5 | c.1568A>T (p.Asn523Ile) c.-116A>T (n.-116A>T) c.*691A>T (n.*691A>T) c.1223A>T (p.Asn408Ile) c.1595A>T (p.Asn532Ile) | |
16 | g.66398539C>A | CA396194378 | CDH5 | c.1569C>A (p.Asn523Lys) c.-115C>A (n.-115C>A) c.*692C>A (n.*692C>A) c.1224C>A (p.Asn408Lys) c.1596C>A (p.Asn532Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.66398539C= | CA2228852465 | CDH5 | c.1569C= (p.Asn523=) c.-115C= (n.-115C=) c.*692C= (n.*692C=) c.1224C= (p.Asn408=) c.1596C= (p.Asn532=) | |
16 | g.66398539C>G | CA396194379 | CDH5 | c.1569C>G (p.Asn523Lys) c.-115C>G (n.-115C>G) c.*692C>G (n.*692C>G) c.1224C>G (p.Asn408Lys) c.1596C>G (p.Asn532Lys) | |
16 | g.66398539C>T | CA495916982 | CDH5 | c.1569C>T (p.Asn523=) c.-115C>T (n.-115C>T) c.*692C>T (n.*692C>T) c.1224C>T (p.Asn408=) c.1596C>T (p.Asn532=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.66398540T>A | CA396194384 | CDH5 | c.1570T>A (p.Phe524Ile) c.-114T>A (n.-114T>A) c.*693T>A (n.*693T>A) c.1225T>A (p.Phe409Ile) c.1597T>A (p.Phe533Ile) | |
16 | g.66398540T>C | CA396194386 | CDH5 | c.1570T>C (p.Phe524Leu) c.-114T>C (n.-114T>C) c.*693T>C (n.*693T>C) c.1225T>C (p.Phe409Leu) c.1597T>C (p.Phe533Leu) | gnomAD v4 |
16 | g.66398540T>G | CA396194387 | CDH5 | c.1570T>G (p.Phe524Val) c.-114T>G (n.-114T>G) c.*693T>G (n.*693T>G) c.1225T>G (p.Phe409Val) c.1597T>G (p.Phe533Val) | |
16 | g.66398542del | CA2576019036 | CDH5 | c.1572del (p.Phe524LeufsTer?) c.-112del (n.-112del) c.*695del (n.*695del) c.1227del (p.Phe409LeufsTer?) c.1599del (p.Phe533LeufsTer?) | gnomAD v4 |
16 | g.66398541T>A | CA396194389 | CDH5 | c.1571T>A (p.Phe524Tyr) c.-113T>A (n.-113T>A) c.*694T>A (n.*694T>A) c.1226T>A (p.Phe409Tyr) c.1598T>A (p.Phe533Tyr) | |
16 | g.66398541T>C | CA396194393 | CDH5 | c.1571T>C (p.Phe524Ser) c.-113T>C (n.-113T>C) c.*694T>C (n.*694T>C) c.1226T>C (p.Phe409Ser) c.1598T>C (p.Phe533Ser) | |
16 | g.66398541T>G | CA396194390 | CDH5 | c.1571T>G (p.Phe524Cys) c.-113T>G (n.-113T>G) c.*694T>G (n.*694T>G) c.1226T>G (p.Phe409Cys) c.1598T>G (p.Phe533Cys) | |
16 | g.66398542T>A | CA396194395 | CDH5 | c.1572T>A (p.Phe524Leu) c.-112T>A (n.-112T>A) c.*695T>A (n.*695T>A) c.1227T>A (p.Phe409Leu) c.1599T>A (p.Phe533Leu) | |
16 | g.66398542T>C | CA495917029 | CDH5 | c.1572T>C (p.Phe524=) c.-112T>C (n.-112T>C) c.*695T>C (n.*695T>C) c.1227T>C (p.Phe409=) c.1599T>C (p.Phe533=) | gnomAD v4 |
16 | g.66398542T>G | CA396194398 | CDH5 | c.1572T>G (p.Phe524Leu) c.-112T>G (n.-112T>G) c.*695T>G (n.*695T>G) c.1227T>G (p.Phe409Leu) c.1599T>G (p.Phe533Leu) | |
16 | g.66398543A= | CA2228852466 | CDH5 | c.1573A= (p.Thr525=) c.-111A= (n.-111A=) c.*696A= (n.*696A=) c.1228A= (p.Thr410=) c.1600A= (p.Thr534=) | |
16 | g.66398543A>C | CA396194402 | CDH5 | c.1573A>C (p.Thr525Pro) c.-111A>C (n.-111A>C) c.*696A>C (n.*696A>C) c.1228A>C (p.Thr410Pro) c.1600A>C (p.Thr534Pro) | |
16 | g.66398543A>G | CA396194403 | CDH5 | c.1573A>G (p.Thr525Ala) c.-111A>G (n.-111A>G) c.*696A>G (n.*696A>G) c.1228A>G (p.Thr410Ala) c.1600A>G (p.Thr534Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.66398543A>T | CA396194406 | CDH5 | c.1573A>T (p.Thr525Ser) c.-111A>T (n.-111A>T) c.*696A>T (n.*696A>T) c.1228A>T (p.Thr410Ser) c.1600A>T (p.Thr534Ser) | |
16 | g.66398544C>A | CA396194409 | CDH5 | c.1574C>A (p.Thr525Asn) c.-110C>A (n.-110C>A) c.*697C>A (n.*697C>A) c.1229C>A (p.Thr410Asn) c.1601C>A (p.Thr534Asn) | gnomAD v4 |
16 | g.66398544C>G | CA396194411 | CDH5 | c.1574C>G (p.Thr525Ser) c.-110C>G (n.-110C>G) c.*697C>G (n.*697C>G) c.1229C>G (p.Thr410Ser) c.1601C>G (p.Thr534Ser) | |
16 | g.66398544C>T | CA396194412 | CDH5 | c.1574C>T (p.Thr525Ile) c.-110C>T (n.-110C>T) c.*697C>T (n.*697C>T) c.1229C>T (p.Thr410Ile) c.1601C>T (p.Thr534Ile) | gnomAD v4 |
16 | g.66398545C>A | CA495917068 | CDH5 | c.1575C>A (p.Thr525=) c.-109C>A (n.-109C>A) c.*698C>A (n.*698C>A) c.1230C>A (p.Thr410=) c.1602C>A (p.Thr534=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.66398545C= | CA2228852468 | CDH5 | c.1575C= (p.Thr525=) c.-109C= (n.-109C=) c.*698C= (n.*698C=) c.1230C= (p.Thr410=) c.1602C= (p.Thr534=) | |
16 | g.66398545C>G | CA495917072 | CDH5 | c.1575C>G (p.Thr525=) c.-109C>G (n.-109C>G) c.*698C>G (n.*698C>G) c.1230C>G (p.Thr410=) c.1602C>G (p.Thr534=) | |
16 | g.66398545C>T | CA495917069 | CDH5 | c.1575C>T (p.Thr525=) c.-109C>T (n.-109C>T) c.*698C>T (n.*698C>T) c.1230C>T (p.Thr410=) c.1602C>T (p.Thr534=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.66398546C>A | CA396194413 | CDH5 | c.1576C>A (p.Leu526Ile) c.-108C>A (n.-108C>A) c.*699C>A (n.*699C>A) c.1231C>A (p.Leu411Ile) c.1603C>A (p.Leu535Ile) | gnomAD v4 |
16 | g.66398546C>G | CA396194414 | CDH5 | c.1576C>G (p.Leu526Val) c.-108C>G (n.-108C>G) c.*699C>G (n.*699C>G) c.1231C>G (p.Leu411Val) c.1603C>G (p.Leu535Val) | |
16 | g.66398546C>T | CA396194415 | CDH5 | c.1576C>T (p.Leu526Phe) c.-108C>T (n.-108C>T) c.*699C>T (n.*699C>T) c.1231C>T (p.Leu411Phe) c.1603C>T (p.Leu535Phe) | gnomAD v4 |
16 | g.66398547T>A | CA396194429 | CDH5 | c.1577T>A (p.Leu526His) c.-107T>A (n.-107T>A) c.*700T>A (n.*700T>A) c.1232T>A (p.Leu411His) c.1604T>A (p.Leu535His) | |
16 | g.66398547T>C | CA396194426 | CDH5 | c.1577T>C (p.Leu526Pro) c.-107T>C (n.-107T>C) c.*700T>C (n.*700T>C) c.1232T>C (p.Leu411Pro) c.1604T>C (p.Leu535Pro) | dbSNP gnomAD v4 |
16 | g.66398547T>G | CA396194417 | CDH5 | c.1577T>G (p.Leu526Arg) c.-107T>G (n.-107T>G) c.*700T>G (n.*700T>G) c.1232T>G (p.Leu411Arg) c.1604T>G (p.Leu535Arg) | |
16 | g.66398547T= | CA2228852470 | CDH5 | c.1577T= (p.Leu526=) c.-107T= (n.-107T=) c.*700T= (n.*700T=) c.1232T= (p.Leu411=) c.1604T= (p.Leu535=) | |
16 | g.66398548C>A | CA495917092 | CDH5 | c.1578C>A (p.Leu526=) c.-106C>A (n.-106C>A) c.*701C>A (n.*701C>A) c.1233C>A (p.Leu411=) c.1605C>A (p.Leu535=) | gnomAD v4 |
16 | g.66398548C= | CA2228852473 | CDH5 | c.1578C= (p.Leu526=) c.-106C= (n.-106C=) c.*701C= (n.*701C=) c.1233C= (p.Leu411=) c.1605C= (p.Leu535=) | |
16 | g.66398548C>G | CA495917096 | CDH5 | c.1578C>G (p.Leu526=) c.-106C>G (n.-106C>G) c.*701C>G (n.*701C>G) c.1233C>G (p.Leu411=) c.1605C>G (p.Leu535=) | |
16 | g.66398548C>T | CA495917097 | CDH5 | c.1578C>T (p.Leu526=) c.-106C>T (n.-106C>T) c.*701C>T (n.*701C>T) c.1233C>T (p.Leu411=) c.1605C>T (p.Leu535=) | dbSNP gnomAD v4 |
16 | g.66398549A>C | CA396194437 | CDH5 | c.1579A>C (p.Thr527Pro) c.-105A>C (n.-105A>C) c.*702A>C (n.*702A>C) c.1234A>C (p.Thr412Pro) c.1606A>C (p.Thr536Pro) | gnomAD v4 |
16 | g.66398549A>G | CA396194439 | CDH5 | c.1579A>G (p.Thr527Ala) c.-105A>G (n.-105A>G) c.*702A>G (n.*702A>G) c.1234A>G (p.Thr412Ala) c.1606A>G (p.Thr536Ala) | |
16 | g.66398549A>T | CA396194442 | CDH5 | c.1579A>T (p.Thr527Ser) c.-105A>T (n.-105A>T) c.*702A>T (n.*702A>T) c.1234A>T (p.Thr412Ser) c.1606A>T (p.Thr536Ser) | |
16 | g.66398550C>A | CA396194445 | CDH5 | c.1580C>A (p.Thr527Lys) c.-104C>A (n.-104C>A) c.*703C>A (n.*703C>A) c.1235C>A (p.Thr412Lys) c.1607C>A (p.Thr536Lys) | gnomAD v4 |
16 | g.66398550C= | CA2228852476 | CDH5 | c.1580C= (p.Thr527=) c.-104C= (n.-104C=) c.*703C= (n.*703C=) c.1235C= (p.Thr412=) c.1607C= (p.Thr536=) | |
16 | g.66398550C>G | CA396194446 | CDH5 | c.1580C>G (p.Thr527Arg) c.-104C>G (n.-104C>G) c.*703C>G (n.*703C>G) c.1235C>G (p.Thr412Arg) c.1607C>G (p.Thr536Arg) | gnomAD v4 |
16 | g.66398550C>T | CA8093106 | CDH5 | c.1580C>T (p.Thr527Met) c.-104C>T (n.-104C>T) c.*703C>T (n.*703C>T) c.1235C>T (p.Thr412Met) c.1607C>T (p.Thr536Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.66398551G>A | CA8093107 | CDH5 | c.1581G>A (p.Thr527=) c.-103G>A (n.-103G>A) c.*704G>A (n.*704G>A) c.1236G>A (p.Thr412=) c.1608G>A (p.Thr536=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.66398551G>C | CA495917121 | CDH5 | c.1581G>C (p.Thr527=) c.-103G>C (n.-103G>C) c.*704G>C (n.*704G>C) c.1236G>C (p.Thr412=) c.1608G>C (p.Thr536=) | |
16 | g.66398551G= | CA2228852479 | CDH5 | c.1581G= (p.Thr527=) c.-103G= (n.-103G=) c.*704G= (n.*704G=) c.1236G= (p.Thr412=) c.1608G= (p.Thr536=) | |
16 | g.66398551G>T | CA495917128 | CDH5 | c.1581G>T (p.Thr527=) c.-103G>T (n.-103G>T) c.*704G>T (n.*704G>T) c.1236G>T (p.Thr412=) c.1608G>T (p.Thr536=) | gnomAD v4 |
16 | g.66398552G>A | CA282186688 | CDH5 | c.1582G>A (p.Asp528Asn) c.-102G>A (n.-102G>A) c.*705G>A (n.*705G>A) c.1237G>A (p.Asp413Asn) c.1609G>A (p.Asp537Asn) | dbSNP COSMIC |
16 | g.66398552G>C | CA396194455 | CDH5 | c.1582G>C (p.Asp528His) c.-102G>C (n.-102G>C) c.*705G>C (n.*705G>C) c.1237G>C (p.Asp413His) c.1609G>C (p.Asp537His) | |
16 | g.66398552G= | CA2228852482 | CDH5 | c.1582G= (p.Asp528=) c.-102G= (n.-102G=) c.*705G= (n.*705G=) c.1237G= (p.Asp413=) c.1609G= (p.Asp537=) | |
16 | g.66398552G>T | CA8093108 | CDH5 | c.1582G>T (p.Asp528Tyr) c.-102G>T (n.-102G>T) c.*705G>T (n.*705G>T) c.1237G>T (p.Asp413Tyr) c.1609G>T (p.Asp537Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.66398553A>C | CA396194457 | CDH5 | c.1583A>C (p.Asp528Ala) c.-101A>C (n.-101A>C) c.*706A>C (n.*706A>C) c.1238A>C (p.Asp413Ala) c.1610A>C (p.Asp537Ala) | |
16 | g.66398553A>G | CA396194459 | CDH5 | c.1583A>G (p.Asp528Gly) c.-101A>G (n.-101A>G) c.*706A>G (n.*706A>G) c.1238A>G (p.Asp413Gly) c.1610A>G (p.Asp537Gly) | gnomAD v4 |
16 | g.66398553A>T | CA396194460 | CDH5 | c.1583A>T (p.Asp528Val) c.-101A>T (n.-101A>T) c.*706A>T (n.*706A>T) c.1238A>T (p.Asp413Val) c.1610A>T (p.Asp537Val) | |
16 | g.66398554T>A | CA396194465 | CDH5 | c.1584T>A (p.Asp528Glu) c.-100T>A (n.-100T>A) c.*707T>A (n.*707T>A) c.1239T>A (p.Asp413Glu) c.1611T>A (p.Asp537Glu) | gnomAD v4 |
16 | g.66398554T>C | CA495917154 | CDH5 | c.1584T>C (p.Asp528=) c.-100T>C (n.-100T>C) c.*707T>C (n.*707T>C) c.1239T>C (p.Asp413=) c.1611T>C (p.Asp537=) | gnomAD v4 |
16 | g.66398554T>G | CA396194466 | CDH5 | c.1584T>G (p.Asp528Glu) c.-100T>G (n.-100T>G) c.*707T>G (n.*707T>G) c.1239T>G (p.Asp413Glu) c.1611T>G (p.Asp537Glu) | |
16 | g.66398555A>C | CA396194471 | CDH5 | c.1585A>C (p.Asn529His) c.-99A>C (n.-99A>C) c.*708A>C (n.*708A>C) c.1240A>C (p.Asn414His) c.1612A>C (p.Asn538His) | |
16 | g.66398555A>G | CA396194475 | CDH5 | c.1585A>G (p.Asn529Asp) c.-99A>G (n.-99A>G) c.*708A>G (n.*708A>G) c.1240A>G (p.Asn414Asp) c.1612A>G (p.Asn538Asp) | gnomAD v4 |
16 | g.66398555A>T | CA396194472 | CDH5 | c.1585A>T (p.Asn529Tyr) c.-99A>T (n.-99A>T) c.*708A>T (n.*708A>T) c.1240A>T (p.Asn414Tyr) c.1612A>T (p.Asn538Tyr) | |
16 | g.66398556del | CA2576019037 | CDH5 | c.1586del (p.Asn529IlefsTer?) c.-98del (n.-98del) c.*709del (n.*709del) c.1241del (p.Asn414IlefsTer?) c.1613del (p.Asn538IlefsTer?) | |
16 | g.66398556A>C | CA396194478 | CDH5 | c.1586A>C (p.Asn529Thr) c.-98A>C (n.-98A>C) c.*709A>C (n.*709A>C) c.1241A>C (p.Asn414Thr) c.1613A>C (p.Asn538Thr) | |
16 | g.66398556A>G | CA396194480 | CDH5 | c.1586A>G (p.Asn529Ser) c.-98A>G (n.-98A>G) c.*709A>G (n.*709A>G) c.1241A>G (p.Asn414Ser) c.1613A>G (p.Asn538Ser) | gnomAD v4 |
16 | g.66398556A>T | CA396194481 | CDH5 | c.1586A>T (p.Asn529Ile) c.-98A>T (n.-98A>T) c.*709A>T (n.*709A>T) c.1241A>T (p.Asn414Ile) c.1613A>T (p.Asn538Ile) | |
16 | g.66398557T>A | CA396194482 | CDH5 | c.1587T>A (p.Asn529Lys) c.-97T>A (n.-97T>A) c.*710T>A (n.*710T>A) c.1242T>A (p.Asn414Lys) c.1614T>A (p.Asn538Lys) | |
16 | g.66398557T>C | CA495917183 | CDH5 | c.1587T>C (p.Asn529=) c.-97T>C (n.-97T>C) c.*710T>C (n.*710T>C) c.1242T>C (p.Asn414=) c.1614T>C (p.Asn538=) | gnomAD v4 |
16 | g.66398557T>G | CA396194485 | CDH5 | c.1587T>G (p.Asn529Lys) c.-97T>G (n.-97T>G) c.*710T>G (n.*710T>G) c.1242T>G (p.Asn414Lys) c.1614T>G (p.Asn538Lys) | |
16 | g.66398558C>A | CA396194489 | CDH5 | c.1588C>A (p.His530Asn) c.-96C>A (n.-96C>A) c.*711C>A (n.*711C>A) c.1243C>A (p.His415Asn) c.1615C>A (p.His539Asn) | gnomAD v4 |
16 | g.66398558C= | CA2228852488 | CDH5 | c.1588C= (p.His530=) c.-96C= (n.-96C=) c.*711C= (n.*711C=) c.1243C= (p.His415=) c.1615C= (p.His539=) | |
16 | g.66398558C>G | CA396194490 | CDH5 | c.1588C>G (p.His530Asp) c.-96C>G (n.-96C>G) c.*711C>G (n.*711C>G) c.1243C>G (p.His415Asp) c.1615C>G (p.His539Asp) | |
16 | g.66398558C>T | CA396194492 | CDH5 | c.1588C>T (p.His530Tyr) c.-96C>T (n.-96C>T) c.*711C>T (n.*711C>T) c.1243C>T (p.His415Tyr) c.1615C>T (p.His539Tyr) | dbSNP |
16 | g.66398559A>C | CA396194493 | CDH5 | c.1589A>C (p.His530Pro) c.-95A>C (n.-95A>C) c.*712A>C (n.*712A>C) c.1244A>C (p.His415Pro) c.1616A>C (p.His539Pro) | |
16 | g.66398559A>G | CA396194496 | CDH5 | c.1589A>G (p.His530Arg) c.-95A>G (n.-95A>G) c.*712A>G (n.*712A>G) c.1244A>G (p.His415Arg) c.1616A>G (p.His539Arg) | gnomAD v4 |
16 | g.66398559A>T | CA396194497 | CDH5 | c.1589A>T (p.His530Leu) c.-95A>T (n.-95A>T) c.*712A>T (n.*712A>T) c.1244A>T (p.His415Leu) c.1616A>T (p.His539Leu) | gnomAD v4 |
16 | g.66398560C>A | CA396194504 | CDH5 | c.1590C>A (p.His530Gln) c.-94C>A (n.-94C>A) c.*713C>A (n.*713C>A) c.1245C>A (p.His415Gln) c.1617C>A (p.His539Gln) | gnomAD v4 |
16 | g.66398560C= | CA2228852491 | CDH5 | c.1590C= (p.His530=) c.-94C= (n.-94C=) c.*713C= (n.*713C=) c.1245C= (p.His415=) c.1617C= (p.His539=) | |
16 | g.66398560C>G | CA396194502 | CDH5 | c.1590C>G (p.His530Gln) c.-94C>G (n.-94C>G) c.*713C>G (n.*713C>G) c.1245C>G (p.His415Gln) c.1617C>G (p.His539Gln) | |
16 | g.66398560C>T | CA8093109 | CDH5 | c.1590C>T (p.His530=) c.-94C>T (n.-94C>T) c.*713C>T (n.*713C>T) c.1245C>T (p.His415=) c.1617C>T (p.His539=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.66398561G>A | CA282186711 | CDH5 | c.1591G>A (p.Asp531Asn) c.-93G>A (n.-93G>A) c.*714G>A (n.*714G>A) c.1246G>A (p.Asp416Asn) c.1618G>A (p.Asp540Asn) | dbSNP gnomAD v4 |
16 | g.66398561G>C | CA396194505 | CDH5 | c.1591G>C (p.Asp531His) c.-93G>C (n.-93G>C) c.*714G>C (n.*714G>C) c.1246G>C (p.Asp416His) c.1618G>C (p.Asp540His) | dbSNP |
16 | g.66398561G= | CA2228852498 | CDH5 | c.1591G= (p.Asp531=) c.-93G= (n.-93G=) c.*714G= (n.*714G=) c.1246G= (p.Asp416=) c.1618G= (p.Asp540=) | |
16 | g.66398561G>T | CA396194506 | CDH5 | c.1591G>T (p.Asp531Tyr) c.-93G>T (n.-93G>T) c.*714G>T (n.*714G>T) c.1246G>T (p.Asp416Tyr) c.1618G>T (p.Asp540Tyr) | dbSNP gnomAD v4 |
16 | g.66398562G>A | CA396194507 | CDH5 | c.1591+1G>A (n.1591+1G>A) c.-93+1G>A (n.-93+1G>A) c.*714+1G>A (n.*714+1G>A) c.1246+1G>A (n.1246+1G>A) c.1618+1G>A (n.1618+1G>A) | gnomAD v4 |
16 | g.66398562G>C | CA396194508 | CDH5 | c.1591+1G>C (n.1591+1G>C) c.-93+1G>C (n.-93+1G>C) c.*714+1G>C (n.*714+1G>C) c.1246+1G>C (n.1246+1G>C) c.1618+1G>C (n.1618+1G>C) | |
16 | g.66398562G>T | CA396194509 | CDH5 | c.1591+1G>T (n.1591+1G>T) c.-93+1G>T (n.-93+1G>T) c.*714+1G>T (n.*714+1G>T) c.1246+1G>T (n.1246+1G>T) c.1618+1G>T (n.1618+1G>T) |