Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.160195535C>ACA348973946ITGB6c.427G>T (p.Ala143Ser)
c.*41G>T (n.*41G>T)
c.301G>T (p.Ala101Ser)
n.748G>T
c.142G>T (p.Ala48Ser)
c.208G>T (p.Ala70Ser)
c.13G>T (p.Ala5Ser)
 gnomAD v4
2g.160195535C=CA1302198650ITGB6c.427G= (p.Ala143=)
c.*41G= (n.*41G=)
c.301G= (p.Ala101=)
n.748G=
c.142G= (p.Ala48=)
c.208G= (p.Ala70=)
c.13G= (p.Ala5=)
2g.160195535C>GCA348973947ITGB6c.427G>C (p.Ala143Pro)
c.*41G>C (n.*41G>C)
c.301G>C (p.Ala101Pro)
n.748G>C
c.142G>C (p.Ala48Pro)
c.208G>C (p.Ala70Pro)
c.13G>C (p.Ala5Pro)
2g.160195535C>TCA214550ITGB6c.427G>A (p.Ala143Thr)
c.*41G>A (n.*41G>A)
c.301G>A (p.Ala101Thr)
n.748G>A
c.142G>A (p.Ala48Thr)
c.208G>A (p.Ala70Thr)
c.13G>A (p.Ala5Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.160195536G>ACA1929510ITGB6c.426C>T (p.Ser142=)
c.*40C>T (n.*40C>T)
c.300C>T (p.Ser100=)
n.747C>T
c.141C>T (p.Ser47=)
c.207C>T (p.Ser69=)
c.12C>T (p.Ser4=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.160195536G>CCA429506243ITGB6c.426C>G (p.Ser142=)
c.*40C>G (n.*40C>G)
c.300C>G (p.Ser100=)
n.747C>G
c.141C>G (p.Ser47=)
c.207C>G (p.Ser69=)
c.12C>G (p.Ser4=)
2g.160195536G=CA1302198651ITGB6c.426C= (p.Ser142=)
c.*40C= (n.*40C=)
c.300C= (p.Ser100=)
n.747C=
c.141C= (p.Ser47=)
c.207C= (p.Ser69=)
c.12C= (p.Ser4=)
2g.160195536G>TCA429506242ITGB6c.426C>A (p.Ser142=)
c.*40C>A (n.*40C>A)
c.300C>A (p.Ser100=)
n.747C>A
c.141C>A (p.Ser47=)
c.207C>A (p.Ser69=)
c.12C>A (p.Ser4=)
2g.160195537G>ACA348973950ITGB6c.425C>T (p.Ser142Phe)
c.*39C>T (n.*39C>T)
c.299C>T (p.Ser100Phe)
n.746C>T
c.140C>T (p.Ser47Phe)
c.206C>T (p.Ser69Phe)
c.11C>T (p.Ser4Phe)
 gnomAD v4
2g.160195537G>CCA348973949ITGB6c.425C>G (p.Ser142Cys)
c.*39C>G (n.*39C>G)
c.299C>G (p.Ser100Cys)
n.746C>G
c.140C>G (p.Ser47Cys)
c.206C>G (p.Ser69Cys)
c.11C>G (p.Ser4Cys)
2g.160195537G>TCA348973948ITGB6c.425C>A (p.Ser142Tyr)
c.*39C>A (n.*39C>A)
c.299C>A (p.Ser100Tyr)
n.746C>A
c.140C>A (p.Ser47Tyr)
c.206C>A (p.Ser69Tyr)
c.11C>A (p.Ser4Tyr)
2g.160195538A>CCA348973953ITGB6c.424T>G (p.Ser142Ala)
c.*38T>G (n.*38T>G)
c.298T>G (p.Ser100Ala)
n.745T>G
c.139T>G (p.Ser47Ala)
c.205T>G (p.Ser69Ala)
c.10T>G (p.Ser4Ala)
2g.160195538A>GCA348973951ITGB6c.424T>C (p.Ser142Pro)
c.*38T>C (n.*38T>C)
c.298T>C (p.Ser100Pro)
n.745T>C
c.139T>C (p.Ser47Pro)
c.205T>C (p.Ser69Pro)
c.10T>C (p.Ser4Pro)
2g.160195538A>TCA348973952ITGB6c.424T>A (p.Ser142Thr)
c.*38T>A (n.*38T>A)
c.298T>A (p.Ser100Thr)
n.745T>A
c.139T>A (p.Ser47Thr)
c.205T>A (p.Ser69Thr)
c.10T>A (p.Ser4Thr)
2g.160195539G>ACA429506244ITGB6c.423C>T (p.Leu141=)
c.*37C>T (n.*37C>T)
c.297C>T (p.Leu99=)
n.744C>T
c.138C>T (p.Leu46=)
c.204C>T (p.Leu68=)
c.9C>T (p.Leu3=)
2g.160195539G>CCA429506245ITGB6c.423C>G (p.Leu141=)
c.*37C>G (n.*37C>G)
c.297C>G (p.Leu99=)
n.744C>G
c.138C>G (p.Leu46=)
c.204C>G (p.Leu68=)
c.9C>G (p.Leu3=)
2g.160195539G>TCA429506246ITGB6c.423C>A (p.Leu141=)
c.*37C>A (n.*37C>A)
c.297C>A (p.Leu99=)
n.744C>A
c.138C>A (p.Leu46=)
c.204C>A (p.Leu68=)
c.9C>A (p.Leu3=)
 gnomAD v4
2g.160195540A=CA1302198652ITGB6c.422T= (p.Leu141=)
c.*36T= (n.*36T=)
c.296T= (p.Leu99=)
n.743T=
c.137T= (p.Leu46=)
c.203T= (p.Leu68=)
c.8T= (p.Leu3=)
2g.160195540A>CCA348973954ITGB6c.422T>G (p.Leu141Arg)
c.*36T>G (n.*36T>G)
c.296T>G (p.Leu99Arg)
n.743T>G
c.137T>G (p.Leu46Arg)
c.203T>G (p.Leu68Arg)
c.8T>G (p.Leu3Arg)
2g.160195540A>GCA348973955ITGB6c.422T>C (p.Leu141Pro)
c.*36T>C (n.*36T>C)
c.296T>C (p.Leu99Pro)
n.743T>C
c.137T>C (p.Leu46Pro)
c.203T>C (p.Leu68Pro)
c.8T>C (p.Leu3Pro)
2g.160195540A>TCA348973956ITGB6c.422T>A (p.Leu141His)
c.*36T>A (n.*36T>A)
c.296T>A (p.Leu99His)
n.743T>A
c.137T>A (p.Leu46His)
c.203T>A (p.Leu68His)
c.8T>A (p.Leu3His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.160195541G>ACA348973957ITGB6c.421C>T (p.Leu141Phe)
c.*35C>T (n.*35C>T)
c.295C>T (p.Leu99Phe)
n.742C>T
c.136C>T (p.Leu46Phe)
c.202C>T (p.Leu68Phe)
c.7C>T (p.Leu3Phe)
2g.160195541G>CCA348973958ITGB6c.421C>G (p.Leu141Val)
c.*35C>G (n.*35C>G)
c.295C>G (p.Leu99Val)
n.742C>G
c.136C>G (p.Leu46Val)
c.202C>G (p.Leu68Val)
c.7C>G (p.Leu3Val)
2g.160195541G>TCA348973959ITGB6c.421C>A (p.Leu141Ile)
c.*35C>A (n.*35C>A)
c.295C>A (p.Leu99Ile)
n.742C>A
c.136C>A (p.Leu46Ile)
c.202C>A (p.Leu68Ile)
c.7C>A (p.Leu3Ile)
2g.160195542G>ACA429506247ITGB6c.420C>T (p.Asp140=)
c.*34C>T (n.*34C>T)
c.294C>T (p.Asp98=)
n.741C>T
c.135C>T (p.Asp45=)
c.201C>T (p.Asp67=)
c.6C>T (p.Asp2=)
2g.160195542G>CCA348973960ITGB6c.420C>G (p.Asp140Glu)
c.*34C>G (n.*34C>G)
c.294C>G (p.Asp98Glu)
n.741C>G
c.135C>G (p.Asp45Glu)
c.201C>G (p.Asp67Glu)
c.6C>G (p.Asp2Glu)
2g.160195542G>TCA348973961ITGB6c.420C>A (p.Asp140Glu)
c.*34C>A (n.*34C>A)
c.294C>A (p.Asp98Glu)
n.741C>A
c.135C>A (p.Asp45Glu)
c.201C>A (p.Asp67Glu)
c.6C>A (p.Asp2Glu)
2g.160195543T>ACA348973962ITGB6c.419A>T (p.Asp140Val)
c.*33A>T (n.*33A>T)
c.293A>T (p.Asp98Val)
n.740A>T
c.134A>T (p.Asp45Val)
c.200A>T (p.Asp67Val)
c.5A>T (p.Asp2Val)
2g.160195543T>CCA348973963ITGB6c.419A>G (p.Asp140Gly)
c.*33A>G (n.*33A>G)
c.293A>G (p.Asp98Gly)
n.740A>G
c.134A>G (p.Asp45Gly)
c.200A>G (p.Asp67Gly)
c.5A>G (p.Asp2Gly)
 dbSNP gnomAD v4
2g.160195543T>GCA348973964ITGB6c.419A>C (p.Asp140Ala)
c.*33A>C (n.*33A>C)
c.293A>C (p.Asp98Ala)
n.740A>C
c.134A>C (p.Asp45Ala)
c.200A>C (p.Asp67Ala)
c.5A>C (p.Asp2Ala)
2g.160195544C>ACA348973967ITGB6c.418G>T (p.Asp140Tyr)
c.*32G>T (n.*32G>T)
c.292G>T (p.Asp98Tyr)
n.739G>T
c.133G>T (p.Asp45Tyr)
c.199G>T (p.Asp67Tyr)
c.4G>T (p.Asp2Tyr)
2g.160195544C>GCA348973965ITGB6c.418G>C (p.Asp140His)
c.*32G>C (n.*32G>C)
c.292G>C (p.Asp98His)
n.739G>C
c.133G>C (p.Asp45His)
c.199G>C (p.Asp67His)
c.4G>C (p.Asp2His)
2g.160195544C>TCA348973966ITGB6c.418G>A (p.Asp140Asn)
c.*32G>A (n.*32G>A)
c.292G>A (p.Asp98Asn)
n.739G>A
c.133G>A (p.Asp45Asn)
c.199G>A (p.Asp67Asn)
c.4G>A (p.Asp2Asn)
 ClinVar
2g.160195545C>ACA348973968ITGB6c.417G>T (p.Met139Ile)
c.*31G>T (n.*31G>T)
c.291G>T (p.Met97Ile)
n.738G>T
c.132G>T (p.Met44Ile)
c.198G>T (p.Met66Ile)
c.3G>T (p.Met1Ile)
2g.160195545C>GCA348973969ITGB6c.417G>C (p.Met139Ile)
c.*31G>C (n.*31G>C)
c.291G>C (p.Met97Ile)
n.738G>C
c.132G>C (p.Met44Ile)
c.198G>C (p.Met66Ile)
c.3G>C (p.Met1Ile)
2g.160195545C>TCA348973970ITGB6c.417G>A (p.Met139Ile)
c.*31G>A (n.*31G>A)
c.291G>A (p.Met97Ile)
n.738G>A
c.132G>A (p.Met44Ile)
c.198G>A (p.Met66Ile)
c.3G>A (p.Met1Ile)
2g.160195546A=CA1302198653ITGB6c.416T= (p.Met139=)
c.*30T= (n.*30T=)
c.290T= (p.Met97=)
n.737T=
c.131T= (p.Met44=)
c.197T= (p.Met66=)
c.2T= (p.Met1=)
2g.160195546A>CCA348973971ITGB6c.416T>G (p.Met139Arg)
c.*30T>G (n.*30T>G)
c.290T>G (p.Met97Arg)
n.737T>G
c.131T>G (p.Met44Arg)
c.197T>G (p.Met66Arg)
c.2T>G (p.Met1Arg)
2g.160195546A>GCA1929511ITGB6c.416T>C (p.Met139Thr)
c.*30T>C (n.*30T>C)
c.290T>C (p.Met97Thr)
n.737T>C
c.131T>C (p.Met44Thr)
c.197T>C (p.Met66Thr)
c.2T>C (p.Met1Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195546A>TCA348973972ITGB6c.416T>A (p.Met139Lys)
c.*30T>A (n.*30T>A)
c.290T>A (p.Met97Lys)
n.737T>A
c.131T>A (p.Met44Lys)
c.197T>A (p.Met66Lys)
c.2T>A (p.Met1Lys)
2g.160195547T>ACA348973973ITGB6c.415A>T (p.Met139Leu)
c.*29A>T (n.*29A>T)
c.289A>T (p.Met97Leu)
n.736A>T
c.130A>T (p.Met44Leu)
c.196A>T (p.Met66Leu)
c.1A>T (p.Met1Leu)
2g.160195547T>CCA348973974ITGB6c.415A>G (p.Met139Val)
c.*29A>G (n.*29A>G)
c.289A>G (p.Met97Val)
n.736A>G
c.130A>G (p.Met44Val)
c.196A>G (p.Met66Val)
c.1A>G (p.Met1Val)
2g.160195547T>GCA348973975ITGB6c.415A>C (p.Met139Leu)
c.*29A>C (n.*29A>C)
c.289A>C (p.Met97Leu)
n.736A>C
c.130A>C (p.Met44Leu)
c.196A>C (p.Met66Leu)
c.1A>C (p.Met1Leu)
2g.160195548G>ACA429506248ITGB6c.414C>T (p.Leu138=)
c.*28C>T (n.*28C>T)
c.288C>T (p.Leu96=)
n.735C>T
c.129C>T (p.Leu43=)
c.195C>T (p.Leu65=)
c.-1C>T (n.-1C>T)
 dbSNP gnomAD v4
2g.160195548G>CCA429506250ITGB6c.414C>G (p.Leu138=)
c.*28C>G (n.*28C>G)
c.288C>G (p.Leu96=)
n.735C>G
c.129C>G (p.Leu43=)
c.195C>G (p.Leu65=)
c.-1C>G (n.-1C>G)
 COSMIC
2g.160195548G=CA1302198654ITGB6c.414C= (p.Leu138=)
c.*28C= (n.*28C=)
c.288C= (p.Leu96=)
n.735C=
c.129C= (p.Leu43=)
c.195C= (p.Leu65=)
c.-1C= (n.-1C=)
2g.160195548G>TCA429506249ITGB6c.414C>A (p.Leu138=)
c.*28C>A (n.*28C>A)
c.288C>A (p.Leu96=)
n.735C>A
c.129C>A (p.Leu43=)
c.195C>A (p.Leu65=)
c.-1C>A (n.-1C>A)
2g.160195549A=CA1302198655ITGB6c.413T= (p.Leu138=)
c.*27T= (n.*27T=)
c.287T= (p.Leu96=)
n.734T=
c.128T= (p.Leu43=)
c.194T= (p.Leu65=)
c.-2T= (n.-2T=)
2g.160195549A>CCA348973976ITGB6c.413T>G (p.Leu138Arg)
c.*27T>G (n.*27T>G)
c.287T>G (p.Leu96Arg)
n.734T>G
c.128T>G (p.Leu43Arg)
c.194T>G (p.Leu65Arg)
c.-2T>G (n.-2T>G)
2g.160195549A>GCA1929512ITGB6c.413T>C (p.Leu138Pro)
c.*27T>C (n.*27T>C)
c.287T>C (p.Leu96Pro)
n.734T>C
c.128T>C (p.Leu43Pro)
c.194T>C (p.Leu65Pro)
c.-2T>C (n.-2T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.160195549A>TCA348973977ITGB6c.413T>A (p.Leu138His)
c.*27T>A (n.*27T>A)
c.287T>A (p.Leu96His)
n.734T>A
c.128T>A (p.Leu43His)
c.194T>A (p.Leu65His)
c.-2T>A (n.-2T>A)
2g.160195550G>ACA348973979ITGB6c.412C>T (p.Leu138Phe)
c.*26C>T (n.*26C>T)
c.286C>T (p.Leu96Phe)
n.733C>T
c.127C>T (p.Leu43Phe)
c.193C>T (p.Leu65Phe)
c.-3C>T (n.-3C>T)
 gnomAD v4
2g.160195550G>CCA348973980ITGB6c.412C>G (p.Leu138Val)
c.*26C>G (n.*26C>G)
c.286C>G (p.Leu96Val)
n.733C>G
c.127C>G (p.Leu43Val)
c.193C>G (p.Leu65Val)
c.-3C>G (n.-3C>G)
 gnomAD v4
2g.160195550G>TCA348973978ITGB6c.412C>A (p.Leu138Ile)
c.*26C>A (n.*26C>A)
c.286C>A (p.Leu96Ile)
n.733C>A
c.127C>A (p.Leu43Ile)
c.193C>A (p.Leu65Ile)
c.-3C>A (n.-3C>A)
2g.160195551G>ACA429506251ITGB6c.411C>T (p.Tyr137=)
c.*25C>T (n.*25C>T)
c.285C>T (p.Tyr95=)
n.732C>T
c.126C>T (p.Tyr42=)
c.192C>T (p.Tyr64=)
c.-4C>T (n.-4C>T)
2g.160195551G>CCA348973981ITGB6c.411C>G (p.Tyr137Ter)
c.*25C>G (n.*25C>G)
c.285C>G (p.Tyr95Ter)
n.732C>G
c.126C>G (p.Tyr42Ter)
c.192C>G (p.Tyr64Ter)
c.-4C>G (n.-4C>G)
2g.160195551G=CA1302198656ITGB6c.411C= (p.Tyr137=)
c.*25C= (n.*25C=)
c.285C= (p.Tyr95=)
n.732C=
c.126C= (p.Tyr42=)
c.192C= (p.Tyr64=)
c.-4C= (n.-4C=)
2g.160195551G>TCA348973982ITGB6c.411C>A (p.Tyr137Ter)
c.*25C>A (n.*25C>A)
c.285C>A (p.Tyr95Ter)
n.732C>A
c.126C>A (p.Tyr42Ter)
c.192C>A (p.Tyr64Ter)
c.-4C>A (n.-4C>A)
2g.160195552T>ACA348973983ITGB6c.410A>T (p.Tyr137Phe)
c.*24A>T (n.*24A>T)
c.284A>T (p.Tyr95Phe)
n.731A>T
c.125A>T (p.Tyr42Phe)
c.191A>T (p.Tyr64Phe)
c.-5A>T (n.-5A>T)
 gnomAD v4
2g.160195552T>CCA348973985ITGB6c.410A>G (p.Tyr137Cys)
c.*24A>G (n.*24A>G)
c.284A>G (p.Tyr95Cys)
n.731A>G
c.125A>G (p.Tyr42Cys)
c.191A>G (p.Tyr64Cys)
c.-5A>G (n.-5A>G)
2g.160195552T>GCA348973984ITGB6c.410A>C (p.Tyr137Ser)
c.*24A>C (n.*24A>C)
c.284A>C (p.Tyr95Ser)
n.731A>C
c.125A>C (p.Tyr42Ser)
c.191A>C (p.Tyr64Ser)
c.-5A>C (n.-5A>C)
2g.160195552_160195555dupCA2661639047ITGB6c.407_410dup (p.Tyr137Ter)
c.*21_*24dup (n.*21_*24dup)
c.281_284dup (p.Tyr95Ter)
n.728_731dup
c.122_125dup (p.Tyr42Ter)
c.188_191dup (p.Tyr64Ter)
c.-8_-5dup (n.-8_-5dup)
 gnomAD v4
2g.160195554_160195556dupCA1302198657ITGB6c.408_410dup (p.Tyr137_Leu138insTyr)
c.*22_*24dup (n.*22_*24dup)
c.282_284dup (p.Tyr95_Leu96insTyr)
n.729_731dup
c.123_125dup (p.Tyr42_Leu43insTyr)
c.189_191dup (p.Tyr64_Leu65insTyr)
c.-7_-5dup (n.-7_-5dup)
 dbSNP gnomAD v4
2g.160195553A=CA1302198658ITGB6c.409T= (p.Tyr137=)
c.*23T= (n.*23T=)
c.283T= (p.Tyr95=)
n.730T=
c.124T= (p.Tyr42=)
c.190T= (p.Tyr64=)
c.-6T= (n.-6T=)
2g.160195553A>CCA348973986ITGB6c.409T>G (p.Tyr137Asp)
c.*23T>G (n.*23T>G)
c.283T>G (p.Tyr95Asp)
n.730T>G
c.124T>G (p.Tyr42Asp)
c.190T>G (p.Tyr64Asp)
c.-6T>G (n.-6T>G)
2g.160195553A>GCA348973987ITGB6c.409T>C (p.Tyr137His)
c.*23T>C (n.*23T>C)
c.283T>C (p.Tyr95His)
n.730T>C
c.124T>C (p.Tyr42His)
c.190T>C (p.Tyr64His)
c.-6T>C (n.-6T>C)
2g.160195553A>TCA348973988ITGB6c.409T>A (p.Tyr137Asn)
c.*23T>A (n.*23T>A)
c.283T>A (p.Tyr95Asn)
n.730T>A
c.124T>A (p.Tyr42Asn)
c.190T>A (p.Tyr64Asn)
c.-6T>A (n.-6T>A)
2g.160195553_160195554insTGCCTCA537088185ITGB6c.408_409insAGGCA (p.Tyr137ArgfsTer18)
c.*22_*23insAGGCA (n.*22_*23insAGGCA)
c.282_283insAGGCA (p.Tyr95ArgfsTer18)
n.729_730insAGGCA
c.123_124insAGGCA (p.Tyr42ArgfsTer18)
c.189_190insAGGCA (p.Tyr64ArgfsTer18)
c.-7_-6insAGGCA (n.-7_-6insAGGCA)
 dbSNP gnomAD v2
2g.160195554A=CA1302198659ITGB6c.408T= (p.Tyr136=)
c.*22T= (n.*22T=)
c.282T= (p.Tyr94=)
n.729T=
c.123T= (p.Tyr41=)
c.189T= (p.Tyr63=)
c.-7T= (n.-7T=)
2g.160195554A>CCA348973989ITGB6c.408T>G (p.Tyr136Ter)
c.*22T>G (n.*22T>G)
c.282T>G (p.Tyr94Ter)
n.729T>G
c.123T>G (p.Tyr41Ter)
c.189T>G (p.Tyr63Ter)
c.-7T>G (n.-7T>G)
2g.160195554A>GCA429506252ITGB6c.408T>C (p.Tyr136=)
c.*22T>C (n.*22T>C)
c.282T>C (p.Tyr94=)
n.729T>C
c.123T>C (p.Tyr41=)
c.189T>C (p.Tyr63=)
c.-7T>C (n.-7T>C)
 dbSNP gnomAD v4
2g.160195554A>TCA348973990ITGB6c.408T>A (p.Tyr136Ter)
c.*22T>A (n.*22T>A)
c.282T>A (p.Tyr94Ter)
n.729T>A
c.123T>A (p.Tyr41Ter)
c.189T>A (p.Tyr63Ter)
c.-7T>A (n.-7T>A)
2g.160195555T>ACA348973991ITGB6c.407A>T (p.Tyr136Phe)
c.*21A>T (n.*21A>T)
c.281A>T (p.Tyr94Phe)
n.728A>T
c.122A>T (p.Tyr41Phe)
c.188A>T (p.Tyr63Phe)
c.-8A>T (n.-8A>T)
 gnomAD v4
2g.160195555T>CCA348973992ITGB6c.407A>G (p.Tyr136Cys)
c.*21A>G (n.*21A>G)
c.281A>G (p.Tyr94Cys)
n.728A>G
c.122A>G (p.Tyr41Cys)
c.188A>G (p.Tyr63Cys)
c.-8A>G (n.-8A>G)
2g.160195555T>GCA348973993ITGB6c.407A>C (p.Tyr136Ser)
c.*21A>C (n.*21A>C)
c.281A>C (p.Tyr94Ser)
n.728A>C
c.122A>C (p.Tyr41Ser)
c.188A>C (p.Tyr63Ser)
c.-8A>C (n.-8A>C)
2g.160195555_160195556insGGAGTGATTTACTACTGAATTTAATAGCAGTGAAGGCTGCATTGGCCTTCTCCAAGCAATAAGAGAACA537088186ITGB6c.406_407insTTCTCTTATTGCTTGGAGAAGGCCAATGCAGCCTTCACTGCTATTAAATTCAGTAGTAAATCACTCC (p.Tyr136PhefsTer16)
c.*20_*21insTTCTCTTATTGCTTGGAGAAGGCCAATGCAGCCTTCACTGCTATTAAATTCAGTAGTAAATCACTCC (n.*20_*21insTTCTCTTATTGCTTGGAGAAGGCCAATGCAGCCTTCACTGCTATTAAATTCAGTAGTAAATCACTCC)
c.280_281insTTCTCTTATTGCTTGGAGAAGGCCAATGCAGCCTTCACTGCTATTAAATTCAGTAGTAAATCACTCC (p.Tyr94PhefsTer16)
n.727_728insTTCTCTTATTGCTTGGAGAAGGCCAATGCAGCCTTCACTGCTATTAAATTCAGTAGTAAATCACTCC
c.121_122insTTCTCTTATTGCTTGGAGAAGGCCAATGCAGCCTTCACTGCTATTAAATTCAGTAGTAAATCACTCC (p.Tyr41PhefsTer16)
c.187_188insTTCTCTTATTGCTTGGAGAAGGCCAATGCAGCCTTCACTGCTATTAAATTCAGTAGTAAATCACTCC (p.Tyr63PhefsTer16)
c.-9_-8insTTCTCTTATTGCTTGGAGAAGGCCAATGCAGCCTTCACTGCTATTAAATTCAGTAGTAAATCACTCC (n.-9_-8insTTCTCTTATTGCTTGGAGAAGGCCAATGCAGCCTTCACTGCTATTAAATTCAGTAGTAAATCACTCC)
 gnomAD v2
2g.160195556A=CA1302198660ITGB6c.406T= (p.Tyr136=)
c.*20T= (n.*20T=)
c.280T= (p.Tyr94=)
n.727T=
c.121T= (p.Tyr41=)
c.187T= (p.Tyr63=)
c.-9T= (n.-9T=)
2g.160195556A>CCA348973994ITGB6c.406T>G (p.Tyr136Asp)
c.*20T>G (n.*20T>G)
c.280T>G (p.Tyr94Asp)
n.727T>G
c.121T>G (p.Tyr41Asp)
c.187T>G (p.Tyr63Asp)
c.-9T>G (n.-9T>G)
2g.160195556A>GCA1929513ITGB6c.406T>C (p.Tyr136His)
c.*20T>C (n.*20T>C)
c.280T>C (p.Tyr94His)
n.727T>C
c.121T>C (p.Tyr41His)
c.187T>C (p.Tyr63His)
c.-9T>C (n.-9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.160195556A>TCA348973995ITGB6c.406T>A (p.Tyr136Asn)
c.*20T>A (n.*20T>A)
c.280T>A (p.Tyr94Asn)
n.727T>A
c.121T>A (p.Tyr41Asn)
c.187T>A (p.Tyr63Asn)
c.-9T>A (n.-9T>A)
2g.160195557C>ACA348973996ITGB6c.405G>T (p.Leu135Phe)
c.*19G>T (n.*19G>T)
c.279G>T (p.Leu93Phe)
n.726G>T
c.120G>T (p.Leu40Phe)
c.186G>T (p.Leu62Phe)
c.-10G>T (n.-10G>T)
2g.160195557C>GCA348973997ITGB6c.405G>C (p.Leu135Phe)
c.*19G>C (n.*19G>C)
c.279G>C (p.Leu93Phe)
n.726G>C
c.120G>C (p.Leu40Phe)
c.186G>C (p.Leu62Phe)
c.-10G>C (n.-10G>C)
2g.160195557C>TCA429506253ITGB6c.405G>A (p.Leu135=)
c.*19G>A (n.*19G>A)
c.279G>A (p.Leu93=)
n.726G>A
c.120G>A (p.Leu40=)
c.186G>A (p.Leu62=)
c.-10G>A (n.-10G>A)
 gnomAD v4
2g.160195558A=CA1302198661ITGB6c.404T= (p.Leu135=)
c.*18T= (n.*18T=)
c.278T= (p.Leu93=)
n.725T=
c.119T= (p.Leu40=)
c.185T= (p.Leu62=)
c.-11T= (n.-11T=)
2g.160195558A>CCA348973998ITGB6c.404T>G (p.Leu135Trp)
c.*18T>G (n.*18T>G)
c.278T>G (p.Leu93Trp)
n.725T>G
c.119T>G (p.Leu40Trp)
c.185T>G (p.Leu62Trp)
c.-11T>G (n.-11T>G)
2g.160195558A>GCA1929514ITGB6c.404T>C (p.Leu135Ser)
c.*18T>C (n.*18T>C)
c.278T>C (p.Leu93Ser)
n.725T>C
c.119T>C (p.Leu40Ser)
c.185T>C (p.Leu62Ser)
c.-11T>C (n.-11T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195558A>TCA348973999ITGB6c.404T>A (p.Leu135Ter)
c.*18T>A (n.*18T>A)
c.278T>A (p.Leu93Ter)
n.725T>A
c.119T>A (p.Leu40Ter)
c.185T>A (p.Leu62Ter)
c.-11T>A (n.-11T>A)
2g.160195559A=CA1302198662ITGB6c.403T= (p.Leu135=)
c.*17T= (n.*17T=)
c.277T= (p.Leu93=)
n.724T=
c.118T= (p.Leu40=)
c.184T= (p.Leu62=)
c.-12T= (n.-12T=)
2g.160195559A>CCA348974000ITGB6c.403T>G (p.Leu135Val)
c.*17T>G (n.*17T>G)
c.277T>G (p.Leu93Val)
n.724T>G
c.118T>G (p.Leu40Val)
c.184T>G (p.Leu62Val)
c.-12T>G (n.-12T>G)
2g.160195559A>GCA429506254ITGB6c.403T>C (p.Leu135=)
c.*17T>C (n.*17T>C)
c.277T>C (p.Leu93=)
n.724T>C
c.118T>C (p.Leu40=)
c.184T>C (p.Leu62=)
c.-12T>C (n.-12T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.160195559A>TCA348974001ITGB6c.403T>A (p.Leu135Met)
c.*17T>A (n.*17T>A)
c.277T>A (p.Leu93Met)
n.724T>A
c.118T>A (p.Leu40Met)
c.184T>A (p.Leu62Met)
c.-12T>A (n.-12T>A)
2g.160195560A>CCA348974002ITGB6c.402T>G (p.Asp134Glu)
c.*16T>G (n.*16T>G)
c.276T>G (p.Asp92Glu)
n.723T>G
c.117T>G (p.Asp39Glu)
c.183T>G (p.Asp61Glu)
c.-13T>G (n.-13T>G)
2g.160195560A>GCA429506255ITGB6c.402T>C (p.Asp134=)
c.*16T>C (n.*16T>C)
c.276T>C (p.Asp92=)
n.723T>C
c.117T>C (p.Asp39=)
c.183T>C (p.Asp61=)
c.-13T>C (n.-13T>C)
2g.160195560A>TCA348974003ITGB6c.402T>A (p.Asp134Glu)
c.*16T>A (n.*16T>A)
c.276T>A (p.Asp92Glu)
n.723T>A
c.117T>A (p.Asp39Glu)
c.183T>A (p.Asp61Glu)
c.-13T>A (n.-13T>A)
2g.160195561T>ACA348974004ITGB6c.401A>T (p.Asp134Val)
c.*15A>T (n.*15A>T)
c.275A>T (p.Asp92Val)
n.722A>T
c.116A>T (p.Asp39Val)
c.182A>T (p.Asp61Val)
c.-14A>T (n.-14A>T)
2g.160195561T>CCA1929515ITGB6c.401A>G (p.Asp134Gly)
c.*15A>G (n.*15A>G)
c.275A>G (p.Asp92Gly)
n.722A>G
c.116A>G (p.Asp39Gly)
c.182A>G (p.Asp61Gly)
c.-14A>G (n.-14A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195561T>GCA348974005ITGB6c.401A>C (p.Asp134Ala)
c.*15A>C (n.*15A>C)
c.275A>C (p.Asp92Ala)
n.722A>C
c.116A>C (p.Asp39Ala)
c.182A>C (p.Asp61Ala)
c.-14A>C (n.-14A>C)
2g.160195561T=CA1302198663ITGB6c.401A= (p.Asp134=)
c.*15A= (n.*15A=)
c.275A= (p.Asp92=)
n.722A=
c.116A= (p.Asp39=)
c.182A= (p.Asp61=)
c.-14A= (n.-14A=)
2g.160195562C>ACA348974007ITGB6c.400G>T (p.Asp134Tyr)
c.*14G>T (n.*14G>T)
c.274G>T (p.Asp92Tyr)
n.721G>T
c.115G>T (p.Asp39Tyr)
c.181G>T (p.Asp61Tyr)
c.-15G>T (n.-15G>T)
2g.160195562C>GCA348974008ITGB6c.400G>C (p.Asp134His)
c.*14G>C (n.*14G>C)
c.274G>C (p.Asp92His)
n.721G>C
c.115G>C (p.Asp39His)
c.181G>C (p.Asp61His)
c.-15G>C (n.-15G>C)
2g.160195562C>TCA348974006ITGB6c.400G>A (p.Asp134Asn)
c.*14G>A (n.*14G>A)
c.274G>A (p.Asp92Asn)
n.721G>A
c.115G>A (p.Asp39Asn)
c.181G>A (p.Asp61Asn)
c.-15G>A (n.-15G>A)
2g.160195563C>ACA429506256ITGB6c.399G>T (p.Val133=)
c.*13G>T (n.*13G>T)
c.273G>T (p.Val91=)
n.720G>T
c.114G>T (p.Val38=)
c.180G>T (p.Val60=)
c.-16G>T (n.-16G>T)
2g.160195563C>GCA429506257ITGB6c.399G>C (p.Val133=)
c.*13G>C (n.*13G>C)
c.273G>C (p.Val91=)
n.720G>C
c.114G>C (p.Val38=)
c.180G>C (p.Val60=)
c.-16G>C (n.-16G>C)
2g.160195563C>TCA429506258ITGB6c.399G>A (p.Val133=)
c.*13G>A (n.*13G>A)
c.273G>A (p.Val91=)
n.720G>A
c.114G>A (p.Val38=)
c.180G>A (p.Val60=)
c.-16G>A (n.-16G>A)
2g.160195564A=CA1302198664ITGB6c.398T= (p.Val133=)
c.*12T= (n.*12T=)
c.272T= (p.Val91=)
n.719T=
c.113T= (p.Val38=)
c.179T= (p.Val60=)
c.-17T= (n.-17T=)
2g.160195564A>CCA348974009ITGB6c.398T>G (p.Val133Gly)
c.*12T>G (n.*12T>G)
c.272T>G (p.Val91Gly)
n.719T>G
c.113T>G (p.Val38Gly)
c.179T>G (p.Val60Gly)
c.-17T>G (n.-17T>G)
2g.160195564A>GCA348974010ITGB6c.398T>C (p.Val133Ala)
c.*12T>C (n.*12T>C)
c.272T>C (p.Val91Ala)
n.719T>C
c.113T>C (p.Val38Ala)
c.179T>C (p.Val60Ala)
c.-17T>C (n.-17T>C)
 dbSNP COSMIC
2g.160195564A>TCA348974011ITGB6c.398T>A (p.Val133Glu)
c.*12T>A (n.*12T>A)
c.272T>A (p.Val91Glu)
n.719T>A
c.113T>A (p.Val38Glu)
c.179T>A (p.Val60Glu)
c.-17T>A (n.-17T>A)
2g.160195565C>ACA348974012ITGB6c.397G>T (p.Val133Leu)
c.*11G>T (n.*11G>T)
c.271G>T (p.Val91Leu)
n.718G>T
c.112G>T (p.Val38Leu)
c.178G>T (p.Val60Leu)
c.-18G>T (n.-18G>T)
2g.160195565C>GCA348974013ITGB6c.397G>C (p.Val133Leu)
c.*11G>C (n.*11G>C)
c.271G>C (p.Val91Leu)
n.718G>C
c.112G>C (p.Val38Leu)
c.178G>C (p.Val60Leu)
c.-18G>C (n.-18G>C)
 gnomAD v4
2g.160195565C>TCA348974014ITGB6c.397G>A (p.Val133Met)
c.*11G>A (n.*11G>A)
c.271G>A (p.Val91Met)
n.718G>A
c.112G>A (p.Val38Met)
c.178G>A (p.Val60Met)
c.-18G>A (n.-18G>A)
2g.160195566C>ACA1929516ITGB6c.396G>T (p.Pro132=)
c.*10G>T (n.*10G>T)
c.270G>T (p.Pro90=)
n.717G>T
c.111G>T (p.Pro37=)
c.177G>T (p.Pro59=)
c.-19G>T (n.-19G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195566C=CA1302198665ITGB6c.396G= (p.Pro132=)
c.*10G= (n.*10G=)
c.270G= (p.Pro90=)
n.717G=
c.111G= (p.Pro37=)
c.177G= (p.Pro59=)
c.-19G= (n.-19G=)
2g.160195566C>GCA1929518ITGB6c.396G>C (p.Pro132=)
c.*10G>C (n.*10G>C)
c.270G>C (p.Pro90=)
n.717G>C
c.111G>C (p.Pro37=)
c.177G>C (p.Pro59=)
c.-19G>C (n.-19G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195566C>TCA1929517ITGB6c.396G>A (p.Pro132=)
c.*10G>A (n.*10G>A)
c.270G>A (p.Pro90=)
n.717G>A
c.111G>A (p.Pro37=)
c.177G>A (p.Pro59=)
c.-19G>A (n.-19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195567G>ACA1929519ITGB6c.395C>T (p.Pro132Leu)
c.*9C>T (n.*9C>T)
c.269C>T (p.Pro90Leu)
n.716C>T
c.110C>T (p.Pro37Leu)
c.176C>T (p.Pro59Leu)
c.-20C>T (n.-20C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195567G>CCA348974015ITGB6c.395C>G (p.Pro132Arg)
c.*9C>G (n.*9C>G)
c.269C>G (p.Pro90Arg)
n.716C>G
c.110C>G (p.Pro37Arg)
c.176C>G (p.Pro59Arg)
c.-20C>G (n.-20C>G)
2g.160195567G=CA1302198666ITGB6c.395C= (p.Pro132=)
c.*9C= (n.*9C=)
c.269C= (p.Pro90=)
n.716C=
c.110C= (p.Pro37=)
c.176C= (p.Pro59=)
c.-20C= (n.-20C=)
2g.160195567G>TCA348974016ITGB6c.395C>A (p.Pro132Gln)
c.*9C>A (n.*9C>A)
c.269C>A (p.Pro90Gln)
n.716C>A
c.110C>A (p.Pro37Gln)
c.176C>A (p.Pro59Gln)
c.-20C>A (n.-20C>A)
2g.160195568G>ACA348974019ITGB6c.394C>T (p.Pro132Ser)
c.*8C>T (n.*8C>T)
c.268C>T (p.Pro90Ser)
n.715C>T
c.109C>T (p.Pro37Ser)
c.175C>T (p.Pro59Ser)
c.-21C>T (n.-21C>T)
2g.160195568G>CCA348974017ITGB6c.394C>G (p.Pro132Ala)
c.*8C>G (n.*8C>G)
c.268C>G (p.Pro90Ala)
n.715C>G
c.109C>G (p.Pro37Ala)
c.175C>G (p.Pro59Ala)
c.-21C>G (n.-21C>G)
2g.160195568G>TCA348974018ITGB6c.394C>A (p.Pro132Thr)
c.*8C>A (n.*8C>A)
c.268C>A (p.Pro90Thr)
n.715C>A
c.109C>A (p.Pro37Thr)
c.175C>A (p.Pro59Thr)
c.-21C>A (n.-21C>A)
2g.160195569G>ACA429506259ITGB6c.393C>T (p.Tyr131=)
c.*7C>T (n.*7C>T)
c.267C>T (p.Tyr89=)
n.714C>T
c.108C>T (p.Tyr36=)
c.174C>T (p.Tyr58=)
c.-22C>T (n.-22C>T)
 gnomAD v4
2g.160195569G>CCA348974020ITGB6c.393C>G (p.Tyr131Ter)
c.*7C>G (n.*7C>G)
c.267C>G (p.Tyr89Ter)
n.714C>G
c.108C>G (p.Tyr36Ter)
c.174C>G (p.Tyr58Ter)
c.-22C>G (n.-22C>G)
 gnomAD v4
2g.160195569G>TCA348974021ITGB6c.393C>A (p.Tyr131Ter)
c.*7C>A (n.*7C>A)
c.267C>A (p.Tyr89Ter)
n.714C>A
c.108C>A (p.Tyr36Ter)
c.174C>A (p.Tyr58Ter)
c.-22C>A (n.-22C>A)
2g.160195570T>ACA348974022ITGB6c.392A>T (p.Tyr131Phe)
c.*6A>T (n.*6A>T)
c.266A>T (p.Tyr89Phe)
n.713A>T
c.107A>T (p.Tyr36Phe)
c.173A>T (p.Tyr58Phe)
c.-23A>T (n.-23A>T)
2g.160195570T>CCA1929520ITGB6c.392A>G (p.Tyr131Cys)
c.*6A>G (n.*6A>G)
c.266A>G (p.Tyr89Cys)
n.713A>G
c.107A>G (p.Tyr36Cys)
c.173A>G (p.Tyr58Cys)
c.-23A>G (n.-23A>G)
 dbSNP ExAC gnomAD v2
2g.160195570T>GCA348974023ITGB6c.392A>C (p.Tyr131Ser)
c.*6A>C (n.*6A>C)
c.266A>C (p.Tyr89Ser)
n.713A>C
c.107A>C (p.Tyr36Ser)
c.173A>C (p.Tyr58Ser)
c.-23A>C (n.-23A>C)
2g.160195570T=CA1302198667ITGB6c.392A= (p.Tyr131=)
c.*6A= (n.*6A=)
c.266A= (p.Tyr89=)
n.713A=
c.107A= (p.Tyr36=)
c.173A= (p.Tyr58=)
c.-23A= (n.-23A=)
2g.160195571A>CCA348974024ITGB6c.391T>G (p.Tyr131Asp)
c.*5T>G (n.*5T>G)
c.265T>G (p.Tyr89Asp)
n.712T>G
c.106T>G (p.Tyr36Asp)
c.172T>G (p.Tyr58Asp)
c.-24T>G (n.-24T>G)
2g.160195571A>GCA348974025ITGB6c.391T>C (p.Tyr131His)
c.*5T>C (n.*5T>C)
c.265T>C (p.Tyr89His)
n.712T>C
c.106T>C (p.Tyr36His)
c.172T>C (p.Tyr58His)
c.-24T>C (n.-24T>C)
2g.160195571A>TCA348974026ITGB6c.391T>A (p.Tyr131Asn)
c.*5T>A (n.*5T>A)
c.265T>A (p.Tyr89Asn)
n.712T>A
c.106T>A (p.Tyr36Asn)
c.172T>A (p.Tyr58Asn)
c.-24T>A (n.-24T>A)
 gnomAD v4
2g.160195572G>ACA429506260ITGB6c.390C>T (p.Asp130=)
c.*4C>T (n.*4C>T)
c.264C>T (p.Asp88=)
n.711C>T
c.105C>T (p.Asp35=)
c.171C>T (p.Asp57=)
c.-25C>T (n.-25C>T)
 gnomAD v4
2g.160195572G>CCA348974027ITGB6c.390C>G (p.Asp130Glu)
c.*4C>G (n.*4C>G)
c.264C>G (p.Asp88Glu)
n.711C>G
c.105C>G (p.Asp35Glu)
c.171C>G (p.Asp57Glu)
c.-25C>G (n.-25C>G)
 dbSNP
2g.160195572G=CA1302198668ITGB6c.390C= (p.Asp130=)
c.*4C= (n.*4C=)
c.264C= (p.Asp88=)
n.711C=
c.105C= (p.Asp35=)
c.171C= (p.Asp57=)
c.-25C= (n.-25C=)
2g.160195572G>TCA348974028ITGB6c.390C>A (p.Asp130Glu)
c.*4C>A (n.*4C>A)
c.264C>A (p.Asp88Glu)
n.711C>A
c.105C>A (p.Asp35Glu)
c.171C>A (p.Asp57Glu)
c.-25C>A (n.-25C>A)
2g.160195573T>ACA348974029ITGB6c.389A>T (p.Asp130Val)
c.*3A>T (n.*3A>T)
c.263A>T (p.Asp88Val)
n.710A>T
c.104A>T (p.Asp35Val)
c.170A>T (p.Asp57Val)
c.-26A>T (n.-26A>T)
2g.160195573T>CCA1929521ITGB6c.389A>G (p.Asp130Gly)
c.*3A>G (n.*3A>G)
c.263A>G (p.Asp88Gly)
n.710A>G
c.104A>G (p.Asp35Gly)
c.170A>G (p.Asp57Gly)
c.-26A>G (n.-26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.160195573T>GCA348974030ITGB6c.389A>C (p.Asp130Ala)
c.*3A>C (n.*3A>C)
c.263A>C (p.Asp88Ala)
n.710A>C
c.104A>C (p.Asp35Ala)
c.170A>C (p.Asp57Ala)
c.-26A>C (n.-26A>C)
2g.160195573T=CA1302198669ITGB6c.389A= (p.Asp130=)
c.*3A= (n.*3A=)
c.263A= (p.Asp88=)
n.710A=
c.104A= (p.Asp35=)
c.170A= (p.Asp57=)
c.-26A= (n.-26A=)
2g.160195574C>ACA348974031ITGB6c.388G>T (p.Asp130Tyr)
c.*2G>T (n.*2G>T)
c.262G>T (p.Asp88Tyr)
n.709G>T
c.103G>T (p.Asp35Tyr)
c.169G>T (p.Asp57Tyr)
c.-27G>T (n.-27G>T)
2g.160195574C=CA1302198670ITGB6c.388G= (p.Asp130=)
c.*2G= (n.*2G=)
c.262G= (p.Asp88=)
n.709G=
c.103G= (p.Asp35=)
c.169G= (p.Asp57=)
c.-27G= (n.-27G=)
2g.160195574C>GCA348974032ITGB6c.388G>C (p.Asp130His)
c.*2G>C (n.*2G>C)
c.262G>C (p.Asp88His)
n.709G>C
c.103G>C (p.Asp35His)
c.169G>C (p.Asp57His)
c.-27G>C (n.-27G>C)
2g.160195574C>TCA1929522ITGB6c.388G>A (p.Asp130Asn)
c.*2G>A (n.*2G>A)
c.262G>A (p.Asp88Asn)
n.709G>A
c.103G>A (p.Asp35Asn)
c.169G>A (p.Asp57Asn)
c.-27G>A (n.-27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195575C>ACA348974033ITGB6c.387G>T (p.Glu129Asp)
c.*1G>T (n.*1G>T)
c.261G>T (p.Glu87Asp)
n.708G>T
c.102G>T (p.Glu34Asp)
c.168G>T (p.Glu56Asp)
c.-28G>T (n.-28G>T)
2g.160195575C>GCA348974034ITGB6c.387G>C (p.Glu129Asp)
c.*1G>C (n.*1G>C)
c.261G>C (p.Glu87Asp)
n.708G>C
c.102G>C (p.Glu34Asp)
c.168G>C (p.Glu56Asp)
c.-28G>C (n.-28G>C)
2g.160195575C>TCA429506261ITGB6c.387G>A (p.Glu129=)
c.*1G>A (n.*1G>A)
c.261G>A (p.Glu87=)
n.708G>A
c.102G>A (p.Glu34=)
c.168G>A (p.Glu56=)
c.-28G>A (n.-28G>A)
 gnomAD v4
2g.160195576T>ACA348974035ITGB6c.386A>T (p.Glu129Val)
c.213A>T (p.Ter71Cys)
c.260A>T (p.Glu87Val)
n.707A>T
c.101A>T (p.Glu34Val)
c.167A>T (p.Glu56Val)
c.-29A>T (n.-29A>T)
2g.160195576T>CCA348974036ITGB6c.386A>G (p.Glu129Gly)
c.213A>G (p.Ter71Trp)
c.260A>G (p.Glu87Gly)
n.707A>G
c.101A>G (p.Glu34Gly)
c.167A>G (p.Glu56Gly)
c.-29A>G (n.-29A>G)
2g.160195576T>GCA348974037ITGB6c.386A>C (p.Glu129Ala)
c.213A>C (p.Ter71Cys)
c.260A>C (p.Glu87Ala)
n.707A>C
c.101A>C (p.Glu34Ala)
c.167A>C (p.Glu56Ala)
c.-29A>C (n.-29A>C)
2g.160195577C>ACA348974040ITGB6c.385G>T (p.Glu129Ter)
c.212G>T (p.Ter71Leu)
c.259G>T (p.Glu87Ter)
n.706G>T
c.100G>T (p.Glu34Ter)
c.166G>T (p.Glu56Ter)
c.-30G>T (n.-30G>T)
2g.160195577C=CA1302198671ITGB6c.385G= (p.Glu129=)
c.212G= (p.Ter71=)
c.259G= (p.Glu87=)
n.706G=
c.100G= (p.Glu34=)
c.166G= (p.Glu56=)
c.-30G= (n.-30G=)
2g.160195577C>GCA348974039ITGB6c.385G>C (p.Glu129Gln)
c.212G>C (p.Ter71Ser)
c.259G>C (p.Glu87Gln)
n.706G>C
c.100G>C (p.Glu34Gln)
c.166G>C (p.Glu56Gln)
c.-30G>C (n.-30G>C)
2g.160195577C>TCA348974038ITGB6c.385G>A (p.Glu129Lys)
c.212G>A (p.Ter71=)
c.259G>A (p.Glu87Lys)
n.706G>A
c.100G>A (p.Glu34Lys)
c.166G>A (p.Glu56Lys)
c.-30G>A (n.-30G>A)
 dbSNP gnomAD v4
2g.160195578A=CA1302198672ITGB6c.384T= (p.Thr128=)
c.211T= (p.Ter71=)
c.258T= (p.Thr86=)
n.705T=
c.99T= (p.Thr33=)
c.165T= (p.Thr55=)
c.-31T= (n.-31T=)
2g.160195578A>CCA429506262ITGB6c.384T>G (p.Thr128=)
c.211T>G (p.Ter71Gly)
c.258T>G (p.Thr86=)
n.705T>G
c.99T>G (p.Thr33=)
c.165T>G (p.Thr55=)
c.-31T>G (n.-31T>G)
 gnomAD v4
2g.160195578A>GCA1929523ITGB6c.384T>C (p.Thr128=)
c.211T>C (p.Ter71Arg)
c.258T>C (p.Thr86=)
n.705T>C
c.99T>C (p.Thr33=)
c.165T>C (p.Thr55=)
c.-31T>C (n.-31T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195578A>TCA429506263ITGB6c.384T>A (p.Thr128=)
c.211T>A (p.Ter71Arg)
c.258T>A (p.Thr86=)
n.705T>A
c.99T>A (p.Thr33=)
c.165T>A (p.Thr55=)
c.-31T>A (n.-31T>A)
2g.160195579G>ACA348974041ITGB6c.383C>T (p.Thr128Ile)
c.210C>T (p.Asp70=)
c.257C>T (p.Thr86Ile)
n.704C>T
c.98C>T (p.Thr33Ile)
c.164C>T (p.Thr55Ile)
c.-32C>T (n.-32C>T)
2g.160195579G>CCA348974042ITGB6c.383C>G (p.Thr128Ser)
c.210C>G (p.Asp70Glu)
c.257C>G (p.Thr86Ser)
n.704C>G
c.98C>G (p.Thr33Ser)
c.164C>G (p.Thr55Ser)
c.-32C>G (n.-32C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.160195579G=CA1302198673ITGB6c.383C= (p.Thr128=)
c.210C= (p.Asp70=)
c.257C= (p.Thr86=)
n.704C=
c.98C= (p.Thr33=)
c.164C= (p.Thr55=)
c.-32C= (n.-32C=)
2g.160195579G>TCA348974043ITGB6c.383C>A (p.Thr128Asn)
c.210C>A (p.Asp70Glu)
c.257C>A (p.Thr86Asn)
n.704C>A
c.98C>A (p.Thr33Asn)
c.164C>A (p.Thr55Asn)
c.-32C>A (n.-32C>A)
 gnomAD v4
2g.160195580T>ACA348974044ITGB6c.382A>T (p.Thr128Ser)
c.209A>T (p.Asp70Val)
c.256A>T (p.Thr86Ser)
n.703A>T
c.97A>T (p.Thr33Ser)
c.163A>T (p.Thr55Ser)
c.-33A>T (n.-33A>T)
2g.160195580T>CCA348974045ITGB6c.382A>G (p.Thr128Ala)
c.209A>G (p.Asp70Gly)
c.256A>G (p.Thr86Ala)
n.703A>G
c.97A>G (p.Thr33Ala)
c.163A>G (p.Thr55Ala)
c.-33A>G (n.-33A>G)
 gnomAD v4
2g.160195580T>GCA348974046ITGB6c.382A>C (p.Thr128Pro)
c.209A>C (p.Asp70Ala)
c.256A>C (p.Thr86Pro)
n.703A>C
c.97A>C (p.Thr33Pro)
c.163A>C (p.Thr55Pro)
c.-33A>C (n.-33A>C)
2g.160195581C>ACA348974047ITGB6c.381G>T (p.Gln127His)
c.208G>T (p.Asp70Tyr)
c.255G>T (p.Gln85His)
n.702G>T
c.96G>T (p.Gln32His)
c.162G>T (p.Gln54His)
c.-34G>T (n.-34G>T)
 gnomAD v4
2g.160195581C=CA1302198674ITGB6c.381G= (p.Gln127=)
c.208G= (p.Asp70=)
c.255G= (p.Gln85=)
n.702G=
c.96G= (p.Gln32=)
c.162G= (p.Gln54=)
c.-34G= (n.-34G=)
2g.160195581C>GCA348974048ITGB6c.381G>C (p.Gln127His)
c.208G>C (p.Asp70His)
c.255G>C (p.Gln85His)
n.702G>C
c.96G>C (p.Gln32His)
c.162G>C (p.Gln54His)
c.-34G>C (n.-34G>C)
2g.160195581C>TCA1929524ITGB6c.381G>A (p.Gln127=)
c.208G>A (p.Asp70Asn)
c.255G>A (p.Gln85=)
n.702G>A
c.96G>A (p.Gln32=)
c.162G>A (p.Gln54=)
c.-34G>A (n.-34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195582T>ACA348974049ITGB6c.380A>T (p.Gln127Leu)
c.207A>T (p.Pro69=)
c.254A>T (p.Gln85Leu)
n.701A>T
c.95A>T (p.Gln32Leu)
c.161A>T (p.Gln54Leu)
c.-35A>T (n.-35A>T)
2g.160195582T>CCA348974050ITGB6c.380A>G (p.Gln127Arg)
c.207A>G (p.Pro69=)
c.254A>G (p.Gln85Arg)
n.701A>G
c.95A>G (p.Gln32Arg)
c.161A>G (p.Gln54Arg)
c.-35A>G (n.-35A>G)
2g.160195582T>GCA348974051ITGB6c.380A>C (p.Gln127Pro)
c.207A>C (p.Pro69=)
c.254A>C (p.Gln85Pro)
n.701A>C
c.95A>C (p.Gln32Pro)
c.161A>C (p.Gln54Pro)
c.-35A>C (n.-35A>C)
2g.160195583G>ACA348974052ITGB6c.379C>T (p.Gln127Ter)
c.206C>T (p.Pro69Leu)
c.253C>T (p.Gln85Ter)
n.700C>T
c.94C>T (p.Gln32Ter)
c.160C>T (p.Gln54Ter)
c.-36C>T (n.-36C>T)
2g.160195583G>CCA348974053ITGB6c.379C>G (p.Gln127Glu)
c.206C>G (p.Pro69Arg)
c.253C>G (p.Gln85Glu)
n.700C>G
c.94C>G (p.Gln32Glu)
c.160C>G (p.Gln54Glu)
c.-36C>G (n.-36C>G)
2g.160195583G>TCA348974054ITGB6c.379C>A (p.Gln127Lys)
c.206C>A (p.Pro69Gln)
c.253C>A (p.Gln85Lys)
n.700C>A
c.94C>A (p.Gln32Lys)
c.160C>A (p.Gln54Lys)
c.-36C>A (n.-36C>A)
2g.160195584G>ACA429506264ITGB6c.378C>T (p.Arg126=)
c.205C>T (p.Pro69Ser)
c.252C>T (p.Arg84=)
n.699C>T
c.93C>T (p.Arg31=)
c.159C>T (p.Arg53=)
c.-37C>T (n.-37C>T)
2g.160195584G>CCA429506265ITGB6c.378C>G (p.Arg126=)
c.205C>G (p.Pro69Ala)
c.252C>G (p.Arg84=)
n.699C>G
c.93C>G (p.Arg31=)
c.159C>G (p.Arg53=)
c.-37C>G (n.-37C>G)
2g.160195584G>TCA429506266ITGB6c.378C>A (p.Arg126=)
c.205C>A (p.Pro69Thr)
c.252C>A (p.Arg84=)
n.699C>A
c.93C>A (p.Arg31=)
c.159C>A (p.Arg53=)
c.-37C>A (n.-37C>A)
2g.160195585C>ACA348974055ITGB6c.377G>T (p.Arg126Leu)
c.204G>T (p.Pro68=)
c.251G>T (p.Arg84Leu)
n.698G>T
c.92G>T (p.Arg31Leu)
c.158G>T (p.Arg53Leu)
c.-38G>T (n.-38G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.160195585C=CA1302198675ITGB6c.377G= (p.Arg126=)
c.204G= (p.Pro68=)
c.251G= (p.Arg84=)
n.698G=
c.92G= (p.Arg31=)
c.158G= (p.Arg53=)
c.-38G= (n.-38G=)
2g.160195585C>GCA348974056ITGB6c.377G>C (p.Arg126Pro)
c.204G>C (p.Pro68=)
c.251G>C (p.Arg84Pro)
n.698G>C
c.92G>C (p.Arg31Pro)
c.158G>C (p.Arg53Pro)
c.-38G>C (n.-38G>C)
2g.160195585C>TCA1929525ITGB6c.377G>A (p.Arg126His)
c.204G>A (p.Pro68=)
c.251G>A (p.Arg84His)
n.698G>A
c.92G>A (p.Arg31His)
c.158G>A (p.Arg53His)
c.-38G>A (n.-38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195586G>ACA1929526ITGB6c.376C>T (p.Arg126Cys)
c.203C>T (p.Pro68Leu)
c.250C>T (p.Arg84Cys)
n.697C>T
c.91C>T (p.Arg31Cys)
c.157C>T (p.Arg53Cys)
c.-39C>T (n.-39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195586G>CCA348974057ITGB6c.376C>G (p.Arg126Gly)
c.203C>G (p.Pro68Arg)
c.250C>G (p.Arg84Gly)
n.697C>G
c.91C>G (p.Arg31Gly)
c.157C>G (p.Arg53Gly)
c.-39C>G (n.-39C>G)
2g.160195586G=CA1302198676ITGB6c.376C= (p.Arg126=)
c.203C= (p.Pro68=)
c.250C= (p.Arg84=)
n.697C=
c.91C= (p.Arg31=)
c.157C= (p.Arg53=)
c.-39C= (n.-39C=)
2g.160195586G>TCA348974058ITGB6c.376C>A (p.Arg126Ser)
c.203C>A (p.Pro68Gln)
c.250C>A (p.Arg84Ser)
n.697C>A
c.91C>A (p.Arg31Ser)
c.157C>A (p.Arg53Ser)
c.-39C>A (n.-39C>A)
2g.160195587G>ACA429506267ITGB6c.375C>T (p.Val125=)
c.202C>T (p.Pro68Ser)
c.249C>T (p.Val83=)
n.696C>T
c.90C>T (p.Val30=)
c.156C>T (p.Val52=)
c.-40C>T (n.-40C>T)
2g.160195587G>CCA429506268ITGB6c.375C>G (p.Val125=)
c.202C>G (p.Pro68Ala)
c.249C>G (p.Val83=)
n.696C>G
c.90C>G (p.Val30=)
c.156C>G (p.Val52=)
c.-40C>G (n.-40C>G)
2g.160195587G>TCA429506269ITGB6c.375C>A (p.Val125=)
c.202C>A (p.Pro68Thr)
c.249C>A (p.Val83=)
n.696C>A
c.90C>A (p.Val30=)
c.156C>A (p.Val52=)
c.-40C>A (n.-40C>A)
2g.160195588A>CCA348974059ITGB6c.374T>G (p.Val125Gly)
c.201T>G (p.Cys67Trp)
c.248T>G (p.Val83Gly)
n.695T>G
c.89T>G (p.Val30Gly)
c.155T>G (p.Val52Gly)
c.-41T>G (n.-41T>G)
2g.160195588A>GCA348974061ITGB6c.374T>C (p.Val125Ala)
c.201T>C (p.Cys67=)
c.248T>C (p.Val83Ala)
n.695T>C
c.89T>C (p.Val30Ala)
c.155T>C (p.Val52Ala)
c.-41T>C (n.-41T>C)
2g.160195588A>TCA348974060ITGB6c.374T>A (p.Val125Asp)
c.201T>A (p.Cys67Ter)
c.248T>A (p.Val83Asp)
n.695T>A
c.89T>A (p.Val30Asp)
c.155T>A (p.Val52Asp)
c.-41T>A (n.-41T>A)
2g.160195589C>ACA348974062ITGB6c.373G>T (p.Val125Phe)
c.200G>T (p.Cys67Phe)
c.247G>T (p.Val83Phe)
n.694G>T
c.88G>T (p.Val30Phe)
c.154G>T (p.Val52Phe)
c.-42G>T (n.-42G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.160195589C=CA1302198677ITGB6c.373G= (p.Val125=)
c.200G= (p.Cys67=)
c.247G= (p.Val83=)
n.694G=
c.88G= (p.Val30=)
c.154G= (p.Val52=)
c.-42G= (n.-42G=)
2g.160195589C>GCA348974063ITGB6c.373G>C (p.Val125Leu)
c.200G>C (p.Cys67Ser)
c.247G>C (p.Val83Leu)
n.694G>C
c.88G>C (p.Val30Leu)
c.154G>C (p.Val52Leu)
c.-42G>C (n.-42G>C)
2g.160195589C>TCA348974064ITGB6c.373G>A (p.Val125Ile)
c.200G>A (p.Cys67Tyr)
c.247G>A (p.Val83Ile)
n.694G>A
c.88G>A (p.Val30Ile)
c.154G>A (p.Val52Ile)
c.-42G>A (n.-42G>A)
 gnomAD v4
2g.160195590A=CA1302198678ITGB6c.372T= (p.His124=)
c.199T= (p.Cys67=)
c.246T= (p.His82=)
n.693T=
c.87T= (p.His29=)
c.153T= (p.His51=)
c.-43T= (n.-43T=)
2g.160195590A>CCA348974065ITGB6c.372T>G (p.His124Gln)
c.199T>G (p.Cys67Gly)
c.246T>G (p.His82Gln)
n.693T>G
c.87T>G (p.His29Gln)
c.153T>G (p.His51Gln)
c.-43T>G (n.-43T>G)
2g.160195590A>GCA1929527ITGB6c.372T>C (p.His124=)
c.199T>C (p.Cys67Arg)
c.246T>C (p.His82=)
n.693T>C
c.87T>C (p.His29=)
c.153T>C (p.His51=)
c.-43T>C (n.-43T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195590A>TCA1929528ITGB6c.372T>A (p.His124Gln)
c.199T>A (p.Cys67Ser)
c.246T>A (p.His82Gln)
n.693T>A
c.87T>A (p.His29Gln)
c.153T>A (p.His51Gln)
c.-43T>A (n.-43T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.160195591T>ACA348974066ITGB6c.371A>T (p.His124Leu)
c.198A>T (p.Ala66=)
c.245A>T (p.His82Leu)
n.692A>T
c.86A>T (p.His29Leu)
c.152A>T (p.His51Leu)
c.-44A>T (n.-44A>T)
2g.160195591T>CCA348974067ITGB6c.371A>G (p.His124Arg)
c.198A>G (p.Ala66=)
c.245A>G (p.His82Arg)
n.692A>G
c.86A>G (p.His29Arg)
c.152A>G (p.His51Arg)
c.-44A>G (n.-44A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.160195591T>GCA348974068ITGB6c.371A>C (p.His124Pro)
c.198A>C (p.Ala66=)
c.245A>C (p.His82Pro)
n.692A>C
c.86A>C (p.His29Pro)
c.152A>C (p.His51Pro)
c.-44A>C (n.-44A>C)
2g.160195591T=CA1302198679ITGB6c.371A= (p.His124=)
c.198A= (p.Ala66=)
c.245A= (p.His82=)
n.692A=
c.86A= (p.His29=)
c.152A= (p.His51=)
c.-44A= (n.-44A=)
2g.160195592G>ACA348974069ITGB6c.370C>T (p.His124Tyr)
c.197C>T (p.Ala66Val)
c.244C>T (p.His82Tyr)
n.691C>T
c.85C>T (p.His29Tyr)
c.151C>T (p.His51Tyr)
c.-45C>T (n.-45C>T)
2g.160195592G>CCA348974070ITGB6c.370C>G (p.His124Asp)
c.197C>G (p.Ala66Gly)
c.244C>G (p.His82Asp)
n.691C>G
c.85C>G (p.His29Asp)
c.151C>G (p.His51Asp)
c.-45C>G (n.-45C>G)
2g.160195592G>TCA348974071ITGB6c.370C>A (p.His124Asn)
c.197C>A (p.Ala66Glu)
c.244C>A (p.His82Asn)
n.691C>A
c.85C>A (p.His29Asn)
c.151C>A (p.His51Asn)
c.-45C>A (n.-45C>A)
 gnomAD v4
2g.160195593C>ACA429506270ITGB6c.369G>T (p.Val123=)
c.196G>T (p.Ala66Ser)
c.243G>T (p.Val81=)
n.690G>T
c.84G>T (p.Val28=)
c.150G>T (p.Val50=)
c.-46G>T (n.-46G>T)
2g.160195593C=CA1302198680ITGB6c.369G= (p.Val123=)
c.196G= (p.Ala66=)
c.243G= (p.Val81=)
n.690G=
c.84G= (p.Val28=)
c.150G= (p.Val50=)
c.-46G= (n.-46G=)
2g.160195593C>GCA429506271ITGB6c.369G>C (p.Val123=)
c.196G>C (p.Ala66Pro)
c.243G>C (p.Val81=)
n.690G>C
c.84G>C (p.Val28=)
c.150G>C (p.Val50=)
c.-46G>C (n.-46G>C)
2g.160195593C>TCA58809178ITGB6c.369G>A (p.Val123=)
c.196G>A (p.Ala66Thr)
c.243G>A (p.Val81=)
n.690G>A
c.84G>A (p.Val28=)
c.150G>A (p.Val50=)
c.-46G>A (n.-46G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.160195594A>CCA348974074ITGB6c.368T>G (p.Val123Gly)
c.195T>G (p.Gly65=)
c.242T>G (p.Val81Gly)
n.689T>G
c.83T>G (p.Val28Gly)
c.149T>G (p.Val50Gly)
c.-47T>G (n.-47T>G)
2g.160195594A>GCA348974072ITGB6c.368T>C (p.Val123Ala)
c.195T>C (p.Gly65=)
c.242T>C (p.Val81Ala)
n.689T>C
c.83T>C (p.Val28Ala)
c.149T>C (p.Val50Ala)
c.-47T>C (n.-47T>C)
 gnomAD v4
2g.160195594A>TCA348974073ITGB6c.368T>A (p.Val123Glu)
c.195T>A (p.Gly65=)
c.242T>A (p.Val81Glu)
n.689T>A
c.83T>A (p.Val28Glu)
c.149T>A (p.Val50Glu)
c.-47T>A (n.-47T>A)
2g.160195595C>ACA348974075ITGB6c.367G>T (p.Val123Leu)
c.194G>T (p.Gly65Val)
c.241G>T (p.Val81Leu)
n.688G>T
c.82G>T (p.Val28Leu)
c.148G>T (p.Val50Leu)
c.-48G>T (n.-48G>T)
2g.160195595C=CA1302198681ITGB6c.367G= (p.Val123=)
c.194G= (p.Gly65=)
c.241G= (p.Val81=)
n.688G=
c.82G= (p.Val28=)
c.148G= (p.Val50=)
c.-48G= (n.-48G=)
2g.160195595C>GCA348974076ITGB6c.367G>C (p.Val123Leu)
c.194G>C (p.Gly65Ala)
c.241G>C (p.Val81Leu)
n.688G>C
c.82G>C (p.Val28Leu)
c.148G>C (p.Val50Leu)
c.-48G>C (n.-48G>C)
2g.160195595C>TCA348974077ITGB6c.367G>A (p.Val123Met)
c.194G>A (p.Gly65Asp)
c.241G>A (p.Val81Met)
n.688G>A
c.82G>A (p.Val28Met)
c.148G>A (p.Val50Met)
c.-48G>A (n.-48G>A)
 dbSNP gnomAD v4
2g.160195596C>ACA1929529ITGB6c.366G>T (p.Gln122His)
c.193G>T (p.Gly65Cys)
c.240G>T (p.Gln80His)
n.687G>T
c.81G>T (p.Gln27His)
c.147G>T (p.Gln49His)
c.-49G>T (n.-49G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.160195596C=CA1302198682ITGB6c.366G= (p.Gln122=)
c.193G= (p.Gly65=)
c.240G= (p.Gln80=)
n.687G=
c.81G= (p.Gln27=)
c.147G= (p.Gln49=)
c.-49G= (n.-49G=)
2g.160195596C>GCA348974078ITGB6c.366G>C (p.Gln122His)
c.193G>C (p.Gly65Arg)
c.240G>C (p.Gln80His)
n.687G>C
c.81G>C (p.Gln27His)
c.147G>C (p.Gln49His)
c.-49G>C (n.-49G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.160195596C>TCA429506272ITGB6c.366G>A (p.Gln122=)
c.193G>A (p.Gly65Ser)
c.240G>A (p.Gln80=)
n.687G>A
c.81G>A (p.Gln27=)
c.147G>A (p.Gln49=)
c.-49G>A (n.-49G>A)
 gnomAD v4
2g.160195597T>ACA348974079ITGB6c.365A>T (p.Gln122Leu)
c.192A>T (p.Ala64=)
c.239A>T (p.Gln80Leu)
n.686A>T
c.80A>T (p.Gln27Leu)
c.146A>T (p.Gln49Leu)
c.-50A>T (n.-50A>T)
2g.160195597T>CCA348974080ITGB6c.365A>G (p.Gln122Arg)
c.192A>G (p.Ala64=)
c.239A>G (p.Gln80Arg)
n.686A>G
c.80A>G (p.Gln27Arg)
c.146A>G (p.Gln49Arg)
c.-50A>G (n.-50A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.160195597T>GCA348974081ITGB6c.365A>C (p.Gln122Pro)
c.192A>C (p.Ala64=)
c.239A>C (p.Gln80Pro)
n.686A>C
c.80A>C (p.Gln27Pro)
c.146A>C (p.Gln49Pro)
c.-50A>C (n.-50A>C)
2g.160195597T=CA1302198683ITGB6c.365A= (p.Gln122=)
c.192A= (p.Ala64=)
c.239A= (p.Gln80=)
n.686A=
c.80A= (p.Gln27=)
c.146A= (p.Gln49=)
c.-50A= (n.-50A=)
2g.160195598G>ACA348974082ITGB6c.364C>T (p.Gln122Ter)
c.191C>T (p.Ala64Val)
c.238C>T (p.Gln80Ter)
n.685C>T
c.79C>T (p.Gln27Ter)
c.145C>T (p.Gln49Ter)
c.-51C>T (n.-51C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.160195598G>CCA348974083ITGB6c.364C>G (p.Gln122Glu)
c.191C>G (p.Ala64Gly)
c.238C>G (p.Gln80Glu)
n.685C>G
c.79C>G (p.Gln27Glu)
c.145C>G (p.Gln49Glu)
c.-51C>G (n.-51C>G)
2g.160195598G=CA1302198684ITGB6c.364C= (p.Gln122=)
c.191C= (p.Ala64=)
c.238C= (p.Gln80=)
n.685C=
c.79C= (p.Gln27=)
c.145C= (p.Gln49=)
c.-51C= (n.-51C=)
2g.160195598G>TCA348974084ITGB6c.364C>A (p.Gln122Lys)
c.191C>A (p.Ala64Glu)
c.238C>A (p.Gln80Lys)
n.685C>A
c.79C>A (p.Gln27Lys)
c.145C>A (p.Gln49Lys)
c.-51C>A (n.-51C>A)
2g.160195599C>ACA429506273ITGB6c.363G>T (p.Leu121=)
c.190G>T (p.Ala64Ser)
c.237G>T (p.Leu79=)
n.684G>T
c.78G>T (p.Leu26=)
c.144G>T (p.Leu48=)
c.-52G>T (n.-52G>T)
2g.160195599C=CA1302198685ITGB6c.363G= (p.Leu121=)
c.190G= (p.Ala64=)
c.237G= (p.Leu79=)
n.684G=
c.78G= (p.Leu26=)
c.144G= (p.Leu48=)
c.-52G= (n.-52G=)
2g.160195599C>GCA429506274ITGB6c.363G>C (p.Leu121=)
c.190G>C (p.Ala64Pro)
c.237G>C (p.Leu79=)
n.684G>C
c.78G>C (p.Leu26=)
c.144G>C (p.Leu48=)
c.-52G>C (n.-52G>C)
2g.160195599C>TCA58809183ITGB6c.363G>A (p.Leu121=)
c.190G>A (p.Ala64Thr)
c.237G>A (p.Leu79=)
n.684G>A
c.78G>A (p.Leu26=)
c.144G>A (p.Leu48=)
c.-52G>A (n.-52G>A)
 dbSNP
2g.160195600A>CCA348974087ITGB6c.362T>G (p.Leu121Arg)
c.189T>G (p.Ser63=)
c.236T>G (p.Leu79Arg)
n.683T>G
c.77T>G (p.Leu26Arg)
c.143T>G (p.Leu48Arg)
c.-53T>G (n.-53T>G)
2g.160195600A>GCA348974086ITGB6c.362T>C (p.Leu121Pro)
c.189T>C (p.Ser63=)
c.236T>C (p.Leu79Pro)
n.683T>C
c.77T>C (p.Leu26Pro)
c.143T>C (p.Leu48Pro)
c.-53T>C (n.-53T>C)
2g.160195600A>TCA348974085ITGB6c.362T>A (p.Leu121Gln)
c.189T>A (p.Ser63=)
c.236T>A (p.Leu79Gln)
n.683T>A
c.77T>A (p.Leu26Gln)
c.143T>A (p.Leu48Gln)
c.-53T>A (n.-53T>A)
2g.160195602_160195603delCA2752889744ITGB6c.361_362del (p.Leu121AlafsTer8)
c.188_189del (p.Ser63CysfsTer?)
c.235_236del (p.Leu79AlafsTer8)
n.682_683del
c.76_77del (p.Leu26AlafsTer8)
c.142_143del (p.Leu48AlafsTer8)
c.-54_-53del (n.-54_-53del)
2g.160195601G>ACA58809187ITGB6c.361C>T (p.Leu121=)
c.188C>T (p.Ser63Phe)
c.235C>T (p.Leu79=)
n.682C>T
c.76C>T (p.Leu26=)
c.142C>T (p.Leu48=)
c.-54C>T (n.-54C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.160195601G>CCA348974089ITGB6c.361C>G (p.Leu121Val)
c.188C>G (p.Ser63Cys)
c.235C>G (p.Leu79Val)
n.682C>G
c.76C>G (p.Leu26Val)
c.142C>G (p.Leu48Val)
c.-54C>G (n.-54C>G)
2g.160195601G=CA1302198686ITGB6c.361C= (p.Leu121=)
c.188C= (p.Ser63=)
c.235C= (p.Leu79=)
n.682C=
c.76C= (p.Leu26=)
c.142C= (p.Leu48=)
c.-54C= (n.-54C=)
2g.160195601G>TCA348974088ITGB6c.361C>A (p.Leu121Met)
c.188C>A (p.Ser63Tyr)
c.235C>A (p.Leu79Met)
n.682C>A
c.76C>A (p.Leu26Met)
c.142C>A (p.Leu48Met)
c.-54C>A (n.-54C>A)
2g.160195602A>CCA429506275ITGB6c.360T>G (p.Thr120=)
c.187T>G (p.Ser63Ala)
c.234T>G (p.Thr78=)
n.681T>G
c.75T>G (p.Thr25=)
c.141T>G (p.Thr47=)
c.-55T>G (n.-55T>G)
2g.160195602A>GCA429506276ITGB6c.360T>C (p.Thr120=)
c.187T>C (p.Ser63Pro)
c.234T>C (p.Thr78=)
n.681T>C
c.75T>C (p.Thr25=)
c.141T>C (p.Thr47=)
c.-55T>C (n.-55T>C)
 gnomAD v4
2g.160195602A>TCA429506277ITGB6c.360T>A (p.Thr120=)
c.187T>A (p.Ser63Thr)
c.234T>A (p.Thr78=)
n.681T>A
c.75T>A (p.Thr25=)
c.141T>A (p.Thr47=)
c.-55T>A (n.-55T>A)
2g.160195603G>ACA348974090ITGB6c.359C>T (p.Thr120Ile)
c.186C>T (p.Asp62=)
c.233C>T (p.Thr78Ile)
n.680C>T
c.74C>T (p.Thr25Ile)
c.140C>T (p.Thr47Ile)
c.-56C>T (n.-56C>T)
2g.160195603G>CCA348974092ITGB6c.359C>G (p.Thr120Ser)
c.186C>G (p.Asp62Glu)
c.233C>G (p.Thr78Ser)
n.680C>G
c.74C>G (p.Thr25Ser)
c.140C>G (p.Thr47Ser)
c.-56C>G (n.-56C>G)
2g.160195603G>TCA348974091ITGB6c.359C>A (p.Thr120Asn)
c.186C>A (p.Asp62Glu)
c.233C>A (p.Thr78Asn)
n.680C>A
c.74C>A (p.Thr25Asn)
c.140C>A (p.Thr47Asn)
c.-56C>A (n.-56C>A)
2g.160195604T>ACA348974093ITGB6c.358A>T (p.Thr120Ser)
c.185A>T (p.Asp62Val)
c.232A>T (p.Thr78Ser)
n.679A>T
c.73A>T (p.Thr25Ser)
c.139A>T (p.Thr47Ser)
c.-57A>T (n.-57A>T)
2g.160195604T>CCA348974095ITGB6c.358A>G (p.Thr120Ala)
c.185A>G (p.Asp62Gly)
c.232A>G (p.Thr78Ala)
n.679A>G
c.73A>G (p.Thr25Ala)
c.139A>G (p.Thr47Ala)
c.-57A>G (n.-57A>G)
2g.160195604T>GCA348974094ITGB6c.358A>C (p.Thr120Pro)
c.185A>C (p.Asp62Ala)
c.232A>C (p.Thr78Pro)
n.679A>C
c.73A>C (p.Thr25Pro)
c.139A>C (p.Thr47Pro)
c.-57A>C (n.-57A>C)
2g.160195605C>ACA348974096ITGB6c.357G>T (p.Gln119His)
c.184G>T (p.Asp62Tyr)
c.231G>T (p.Gln77His)
n.678G>T
c.72G>T (p.Gln24His)
c.138G>T (p.Gln46His)
c.-58G>T (n.-58G>T)
2g.160195605C>GCA348974098ITGB6c.357G>C (p.Gln119His)
c.184G>C (p.Asp62His)
c.231G>C (p.Gln77His)
n.678G>C
c.72G>C (p.Gln24His)
c.138G>C (p.Gln46His)
c.-58G>C (n.-58G>C)
2g.160195605C>TCA429506278ITGB6c.357G>A (p.Gln119=)
c.184G>A (p.Asp62Asn)
c.231G>A (p.Gln77=)
n.678G>A
c.72G>A (p.Gln24=)
c.138G>A (p.Gln46=)
c.-58G>A (n.-58G>A)
 gnomAD v4
2g.160195606T>ACA348974099ITGB6c.356A>T (p.Gln119Leu)
c.183A>T (p.Ala61=)
c.230A>T (p.Gln77Leu)
n.677A>T
c.71A>T (p.Gln24Leu)
c.137A>T (p.Gln46Leu)
c.-59A>T (n.-59A>T)
 dbSNP
2g.160195606T>CCA348974100ITGB6c.356A>G (p.Gln119Arg)
c.183A>G (p.Ala61=)
c.230A>G (p.Gln77Arg)
n.677A>G
c.71A>G (p.Gln24Arg)
c.137A>G (p.Gln46Arg)
c.-59A>G (n.-59A>G)
 gnomAD v4
2g.160195606T>GCA348974101ITGB6c.356A>C (p.Gln119Pro)
c.183A>C (p.Ala61=)
c.230A>C (p.Gln77Pro)
n.677A>C
c.71A>C (p.Gln24Pro)
c.137A>C (p.Gln46Pro)
c.-59A>C (n.-59A>C)
2g.160195606T=CA1302198687ITGB6c.356A= (p.Gln119=)
c.183A= (p.Ala61=)
c.230A= (p.Gln77=)
n.677A=
c.71A= (p.Gln24=)
c.137A= (p.Gln46=)
c.-59A= (n.-59A=)
2g.160195607G>ACA348974102ITGB6c.355C>T (p.Gln119Ter)
c.182C>T (p.Ala61Val)
c.229C>T (p.Gln77Ter)
n.676C>T
c.70C>T (p.Gln24Ter)
c.136C>T (p.Gln46Ter)
c.-60C>T (n.-60C>T)
2g.160195607G>CCA348974103ITGB6c.355C>G (p.Gln119Glu)
c.182C>G (p.Ala61Gly)
c.229C>G (p.Gln77Glu)
n.676C>G
c.70C>G (p.Gln24Glu)
c.136C>G (p.Gln46Glu)
c.-60C>G (n.-60C>G)
2g.160195607G>TCA348974104ITGB6c.355C>A (p.Gln119Lys)
c.182C>A (p.Ala61Glu)
c.229C>A (p.Gln77Lys)
n.676C>A
c.70C>A (p.Gln24Lys)
c.136C>A (p.Gln46Lys)
c.-60C>A (n.-60C>A)
2g.160195607_160195626dupCA2661639048ITGB6c.347-11_355dup
c.174-11_182dup
c.221-11_229dup
n.668-11_676dup
c.62-11_70dup
c.128-11_136dup
c.-68-11_-60dup
 gnomAD v4
2g.160195608C>ACA429506279ITGB6c.354G>T (p.Ala118=)
c.181G>T (p.Ala61Ser)
c.228G>T (p.Ala76=)
n.675G>T
c.69G>T (p.Ala23=)
c.135G>T (p.Ala45=)
c.-61G>T (n.-61G>T)
 dbSNP
2g.160195608C=CA1302198688ITGB6c.354G= (p.Ala118=)
c.181G= (p.Ala61=)
c.228G= (p.Ala76=)
n.675G=
c.69G= (p.Ala23=)
c.135G= (p.Ala45=)
c.-61G= (n.-61G=)
2g.160195608C>GCA429506280ITGB6c.354G>C (p.Ala118=)
c.181G>C (p.Ala61Pro)
c.228G>C (p.Ala76=)
n.675G>C
c.69G>C (p.Ala23=)
c.135G>C (p.Ala45=)
c.-61G>C (n.-61G>C)
2g.160195608C>TCA1929530ITGB6c.354G>A (p.Ala118=)
c.181G>A (p.Ala61Thr)
c.228G>A (p.Ala76=)
n.675G>A
c.69G>A (p.Ala23=)
c.135G>A (p.Ala45=)
c.-61G>A (n.-61G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195609G>ACA1929531ITGB6c.353C>T (p.Ala118Val)
c.180C>T (p.Cys60=)
c.227C>T (p.Ala76Val)
n.674C>T
c.68C>T (p.Ala23Val)
c.134C>T (p.Ala45Val)
c.-62C>T (n.-62C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195609G>CCA348974105ITGB6c.353C>G (p.Ala118Gly)
c.180C>G (p.Cys60Trp)
c.227C>G (p.Ala76Gly)
n.674C>G
c.68C>G (p.Ala23Gly)
c.134C>G (p.Ala45Gly)
c.-62C>G (n.-62C>G)
 gnomAD v4
2g.160195609G=CA1302198689ITGB6c.353C= (p.Ala118=)
c.180C= (p.Cys60=)
c.227C= (p.Ala76=)
n.674C=
c.68C= (p.Ala23=)
c.134C= (p.Ala45=)
c.-62C= (n.-62C=)
2g.160195609G>TCA348974106ITGB6c.353C>A (p.Ala118Glu)
c.180C>A (p.Cys60Ter)
c.227C>A (p.Ala76Glu)
n.674C>A
c.68C>A (p.Ala23Glu)
c.134C>A (p.Ala45Glu)
c.-62C>A (n.-62C>A)
2g.160195610C>ACA348974107ITGB6c.352G>T (p.Ala118Ser)
c.179G>T (p.Cys60Phe)
c.226G>T (p.Ala76Ser)
n.673G>T
c.67G>T (p.Ala23Ser)
c.133G>T (p.Ala45Ser)
c.-63G>T (n.-63G>T)
2g.160195610C=CA1302198690ITGB6c.352G= (p.Ala118=)
c.179G= (p.Cys60=)
c.226G= (p.Ala76=)
n.673G=
c.67G= (p.Ala23=)
c.133G= (p.Ala45=)
c.-63G= (n.-63G=)
2g.160195610C>GCA348974109ITGB6c.352G>C (p.Ala118Pro)
c.179G>C (p.Cys60Ser)
c.226G>C (p.Ala76Pro)
n.673G>C
c.67G>C (p.Ala23Pro)
c.133G>C (p.Ala45Pro)
c.-63G>C (n.-63G>C)
2g.160195610C>TCA348974108ITGB6c.352G>A (p.Ala118Thr)
c.179G>A (p.Cys60Tyr)
c.226G>A (p.Ala76Thr)
n.673G>A
c.67G>A (p.Ala23Thr)
c.133G>A (p.Ala45Thr)
c.-63G>A (n.-63G>A)
 dbSNP gnomAD v4
2g.160195611A>CCA429506283ITGB6c.351T>G (p.Gly117=)
c.178T>G (p.Cys60Gly)
c.225T>G (p.Gly75=)
n.672T>G
c.66T>G (p.Gly22=)
c.132T>G (p.Gly44=)
c.-64T>G (n.-64T>G)
2g.160195611A>GCA429506281ITGB6c.351T>C (p.Gly117=)
c.178T>C (p.Cys60Arg)
c.225T>C (p.Gly75=)
n.672T>C
c.66T>C (p.Gly22=)
c.132T>C (p.Gly44=)
c.-64T>C (n.-64T>C)
2g.160195611A>TCA429506282ITGB6c.351T>A (p.Gly117=)
c.178T>A (p.Cys60Ser)
c.225T>A (p.Gly75=)
n.672T>A
c.66T>A (p.Gly22=)
c.132T>A (p.Gly44=)
c.-64T>A (n.-64T>A)
2g.160195612C>ACA348974110ITGB6c.350G>T (p.Gly117Val)
c.177G>T (p.Trp59Cys)
c.224G>T (p.Gly75Val)
n.671G>T
c.65G>T (p.Gly22Val)
c.131G>T (p.Gly44Val)
c.-65G>T (n.-65G>T)
2g.160195612C>GCA348974111ITGB6c.350G>C (p.Gly117Ala)
c.177G>C (p.Trp59Cys)
c.224G>C (p.Gly75Ala)
n.671G>C
c.65G>C (p.Gly22Ala)
c.131G>C (p.Gly44Ala)
c.-65G>C (n.-65G>C)
2g.160195612C>TCA348974112ITGB6c.350G>A (p.Gly117Asp)
c.177G>A (p.Trp59Ter)
c.224G>A (p.Gly75Asp)
n.671G>A
c.65G>A (p.Gly22Asp)
c.131G>A (p.Gly44Asp)
c.-65G>A (n.-65G>A)
2g.160195613C>ACA348974113ITGB6c.349G>T (p.Gly117Cys)
c.176G>T (p.Trp59Leu)
c.223G>T (p.Gly75Cys)
n.670G>T
c.64G>T (p.Gly22Cys)
c.130G>T (p.Gly44Cys)
c.-66G>T (n.-66G>T)
2g.160195613C>GCA348974114ITGB6c.349G>C (p.Gly117Arg)
c.176G>C (p.Trp59Ser)
c.223G>C (p.Gly75Arg)
n.670G>C
c.64G>C (p.Gly22Arg)
c.130G>C (p.Gly44Arg)
c.-66G>C (n.-66G>C)
2g.160195613C>TCA348974115ITGB6c.349G>A (p.Gly117Ser)
c.176G>A (p.Trp59Ter)
c.223G>A (p.Gly75Ser)
n.670G>A
c.64G>A (p.Gly22Ser)
c.130G>A (p.Gly44Ser)
c.-66G>A (n.-66G>A)
2g.160195614A>CCA429506284ITGB6c.348T>G (p.Gly116=)
c.175T>G (p.Trp59Gly)
c.222T>G (p.Gly74=)
n.669T>G
c.63T>G (p.Gly21=)
c.129T>G (p.Gly43=)
c.-67T>G (n.-67T>G)
2g.160195614A>GCA429506285ITGB6c.348T>C (p.Gly116=)
c.175T>C (p.Trp59Arg)
c.222T>C (p.Gly74=)
n.669T>C
c.63T>C (p.Gly21=)
c.129T>C (p.Gly43=)
c.-67T>C (n.-67T>C)
2g.160195614A>TCA429506286ITGB6c.348T>A (p.Gly116=)
c.175T>A (p.Trp59Arg)
c.222T>A (p.Gly74=)
n.669T>A
c.63T>A (p.Gly21=)
c.129T>A (p.Gly43=)
c.-67T>A (n.-67T>A)
2g.160195615C>ACA348974116ITGB6c.347G>T (p.Gly116Val)
c.174G>T (p.Arg58Ser)
c.221G>T (p.Gly74Val)
n.668G>T
c.62G>T (p.Gly21Val)
c.128G>T (p.Gly43Val)
c.-68G>T (n.-68G>T)
2g.160195615C>GCA348974117ITGB6c.347G>C (p.Gly116Ala)
c.174G>C (p.Arg58Ser)
c.221G>C (p.Gly74Ala)
n.668G>C
c.62G>C (p.Gly21Ala)
c.128G>C (p.Gly43Ala)
c.-68G>C (n.-68G>C)
2g.160195615C>TCA348974118ITGB6c.347G>A (p.Gly116Asp)
c.174G>A (p.Arg58=)
c.221G>A (p.Gly74Asp)
n.668G>A
c.62G>A (p.Gly21Asp)
c.128G>A (p.Gly43Asp)
c.-68G>A (n.-68G>A)
 gnomAD v4
2g.160195616delCA2661639049ITGB6c.347del
c.174del
c.221del
n.668del
c.62del
c.128del
c.-68del
 gnomAD v4
2g.160195616C>ACA348974120ITGB6c.347-1G>T (n.347-1G>T)
c.174-1G>T (n.174-1G>T)
c.221-1G>T (n.221-1G>T)
n.668-1G>T
c.62-1G>T (n.62-1G>T)
c.128-1G>T (n.128-1G>T)
c.-68-1G>T (n.-68-1G>T)
2g.160195616C>GCA348974121ITGB6c.347-1G>C (n.347-1G>C)
c.174-1G>C (n.174-1G>C)
c.221-1G>C (n.221-1G>C)
n.668-1G>C
c.62-1G>C (n.62-1G>C)
c.128-1G>C (n.128-1G>C)
c.-68-1G>C (n.-68-1G>C)
 gnomAD v4
2g.160195616C>TCA348974119ITGB6c.347-1G>A (n.347-1G>A)
c.174-1G>A (n.174-1G>A)
c.221-1G>A (n.221-1G>A)
n.668-1G>A
c.62-1G>A (n.62-1G>A)
c.128-1G>A (n.128-1G>A)
c.-68-1G>A (n.-68-1G>A)
 gnomAD v4 COSMIC
2g.160195617T>ACA348974122ITGB6c.347-2A>T (n.347-2A>T)
c.174-2A>T (n.174-2A>T)
c.221-2A>T (n.221-2A>T)
n.668-2A>T
c.62-2A>T (n.62-2A>T)
c.128-2A>T (n.128-2A>T)
c.-68-2A>T (n.-68-2A>T)
2g.160195617T>CCA348974123ITGB6c.347-2A>G (n.347-2A>G)
c.174-2A>G (n.174-2A>G)
c.221-2A>G (n.221-2A>G)
n.668-2A>G
c.62-2A>G (n.62-2A>G)
c.128-2A>G (n.128-2A>G)
c.-68-2A>G (n.-68-2A>G)
2g.160195617T>GCA348974124ITGB6c.347-2A>C (n.347-2A>C)
c.174-2A>C (n.174-2A>C)
c.221-2A>C (n.221-2A>C)
n.668-2A>C
c.62-2A>C (n.62-2A>C)
c.128-2A>C (n.128-2A>C)
c.-68-2A>C (n.-68-2A>C)
2g.160195618G>ACA1302198691ITGB6c.347-3C>T (n.347-3C>T)
c.174-3C>T (n.174-3C>T)
c.221-3C>T (n.221-3C>T)
n.668-3C>T
c.62-3C>T (n.62-3C>T)
c.128-3C>T (n.128-3C>T)
c.-68-3C>T (n.-68-3C>T)
 dbSNP gnomAD v4
2g.160195618G=CA1302198692ITGB6c.347-3C= (n.347-3C=)
c.174-3C= (n.174-3C=)
c.221-3C= (n.221-3C=)
n.668-3C=
c.62-3C= (n.62-3C=)
c.128-3C= (n.128-3C=)
c.-68-3C= (n.-68-3C=)
2g.160195619C=CA1302198693ITGB6c.347-4G= (n.347-4G=)
c.174-4G= (n.174-4G=)
c.221-4G= (n.221-4G=)
n.668-4G=
c.62-4G= (n.62-4G=)
c.128-4G= (n.128-4G=)
c.-68-4G= (n.-68-4G=)
2g.160195619C>GCA2752889745ITGB6c.347-4G>C (n.347-4G>C)
c.174-4G>C (n.174-4G>C)
c.221-4G>C (n.221-4G>C)
n.668-4G>C
c.62-4G>C (n.62-4G>C)
c.128-4G>C (n.128-4G>C)
c.-68-4G>C (n.-68-4G>C)
2g.160195619C>TCA58809199ITGB6c.347-4G>A (n.347-4G>A)
c.174-4G>A (n.174-4G>A)
c.221-4G>A (n.221-4G>A)
n.668-4G>A
c.62-4G>A (n.62-4G>A)
c.128-4G>A (n.128-4G>A)
c.-68-4G>A (n.-68-4G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.160195620A=CA1302198694ITGB6c.347-5T= (n.347-5T=)
c.174-5T= (n.174-5T=)
c.221-5T= (n.221-5T=)
n.668-5T=
c.62-5T= (n.62-5T=)
c.128-5T= (n.128-5T=)
c.-68-5T= (n.-68-5T=)
2g.160195620A>GCA537088203ITGB6c.347-5T>C (n.347-5T>C)
c.174-5T>C (n.174-5T>C)
c.221-5T>C (n.221-5T>C)
n.668-5T>C
c.62-5T>C (n.62-5T>C)
c.128-5T>C (n.128-5T>C)
c.-68-5T>C (n.-68-5T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.160195623G>ACA537088204ITGB6c.347-8C>T (n.347-8C>T)
c.174-8C>T (n.174-8C>T)
c.221-8C>T (n.221-8C>T)
n.668-8C>T
c.62-8C>T (n.62-8C>T)
c.128-8C>T (n.128-8C>T)
c.-68-8C>T (n.-68-8C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.160195623G=CA1302198695ITGB6c.347-8C= (n.347-8C=)
c.174-8C= (n.174-8C=)
c.221-8C= (n.221-8C=)
n.668-8C=
c.62-8C= (n.62-8C=)
c.128-8C= (n.128-8C=)
c.-68-8C= (n.-68-8C=)
2g.160195624C=CA1302198696ITGB6c.347-9G= (n.347-9G=)
c.174-9G= (n.174-9G=)
c.221-9G= (n.221-9G=)
n.668-9G=
c.62-9G= (n.62-9G=)
c.128-9G= (n.128-9G=)
c.-68-9G= (n.-68-9G=)
2g.160195624C>GCA1929532ITGB6c.347-9G>C (n.347-9G>C)
c.174-9G>C (n.174-9G>C)
c.221-9G>C (n.221-9G>C)
n.668-9G>C
c.62-9G>C (n.62-9G>C)
c.128-9G>C (n.128-9G>C)
c.-68-9G>C (n.-68-9G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195628A=CA1302198697ITGB6c.347-13T= (n.347-13T=)
c.174-13T= (n.174-13T=)
c.221-13T= (n.221-13T=)
n.668-13T=
c.62-13T= (n.62-13T=)
c.128-13T= (n.128-13T=)
c.-68-13T= (n.-68-13T=)
2g.160195628A>GCA759672201ITGB6c.347-13T>C (n.347-13T>C)
c.174-13T>C (n.174-13T>C)
c.221-13T>C (n.221-13T>C)
n.668-13T>C
c.62-13T>C (n.62-13T>C)
c.128-13T>C (n.128-13T>C)
c.-68-13T>C (n.-68-13T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.160195628_160195629delinsACCA1302198698ITGB6c.347-14_347-13delinsGT (n.347-14_347-13delinsGT)
c.174-14_174-13delinsGT (n.174-14_174-13delinsGT)
c.221-14_221-13delinsGT (n.221-14_221-13delinsGT)
n.668-14_668-13delinsGT
c.62-14_62-13delinsGT (n.62-14_62-13delinsGT)
c.128-14_128-13delinsGT (n.128-14_128-13delinsGT)
c.-68-14_-68-13delinsGT (n.-68-14_-68-13delinsGT)
2g.160195629delCA1929533ITGB6c.347-14del (n.347-14del)
c.174-14del (n.174-14del)
c.221-14del (n.221-14del)
n.668-14del
c.62-14del (n.62-14del)
c.128-14del (n.128-14del)
c.-68-14del (n.-68-14del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195629C>ACA537088208ITGB6c.347-14G>T (n.347-14G>T)
c.174-14G>T (n.174-14G>T)
c.221-14G>T (n.221-14G>T)
n.668-14G>T
c.62-14G>T (n.62-14G>T)
c.128-14G>T (n.128-14G>T)
c.-68-14G>T (n.-68-14G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.160195629C=CA1302198699ITGB6c.347-14G= (n.347-14G=)
c.174-14G= (n.174-14G=)
c.221-14G= (n.221-14G=)
n.668-14G=
c.62-14G= (n.62-14G=)
c.128-14G= (n.128-14G=)
c.-68-14G= (n.-68-14G=)
2g.160195629_160195630delinsCACA1302198700ITGB6c.347-15_347-14delinsTG (n.347-15_347-14delinsTG)
c.174-15_174-14delinsTG (n.174-15_174-14delinsTG)
c.221-15_221-14delinsTG (n.221-15_221-14delinsTG)
n.668-15_668-14delinsTG
c.62-15_62-14delinsTG (n.62-15_62-14delinsTG)
c.128-15_128-14delinsTG (n.128-15_128-14delinsTG)
c.-68-15_-68-14delinsTG (n.-68-15_-68-14delinsTG)
2g.160195630delCA348974125ITGB6c.347-15del (n.347-15del)
c.174-15del (n.174-15del)
c.221-15del (n.221-15del)
n.668-15del
c.62-15del (n.62-15del)
c.128-15del (n.128-15del)
c.-68-15del (n.-68-15del)
 dbSNP gnomAD v2 gnomAD v4
2g.160195632G>ACA1929534ITGB6c.347-17C>T (n.347-17C>T)
c.174-17C>T (n.174-17C>T)
c.221-17C>T (n.221-17C>T)
n.668-17C>T
c.62-17C>T (n.62-17C>T)
c.128-17C>T (n.128-17C>T)
c.-68-17C>T (n.-68-17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.160195632G>CCA2533727878ITGB6c.347-17C>G (n.347-17C>G)
c.174-17C>G (n.174-17C>G)
c.221-17C>G (n.221-17C>G)
n.668-17C>G
c.62-17C>G (n.62-17C>G)
c.128-17C>G (n.128-17C>G)
c.-68-17C>G (n.-68-17C>G)
2g.160195632G=CA1302198701ITGB6c.347-17C= (n.347-17C=)
c.174-17C= (n.174-17C=)
c.221-17C= (n.221-17C=)
n.668-17C=
c.62-17C= (n.62-17C=)
c.128-17C= (n.128-17C=)
c.-68-17C= (n.-68-17C=)
2g.160195632G>TCA2661639050ITGB6c.347-17C>A (n.347-17C>A)
c.174-17C>A (n.174-17C>A)
c.221-17C>A (n.221-17C>A)
n.668-17C>A
c.62-17C>A (n.62-17C>A)
c.128-17C>A (n.128-17C>A)
c.-68-17C>A (n.-68-17C>A)
 gnomAD v4

Number of alleles fetched