Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.118108274_118110927delCA916081523EXT1c.124_962+1815del
c.73+51_73+2704del (n.73+51_73+2704del)
 ClinVar
8g.118109691_118110512delCA2499219105EXT1c.540_962+399del
c.73+467_73+1288del (n.73+467_73+1288del)
 ClinVar dbSNP
8g.118109995_118110004dupCA2781897725EXT1c.962+83_962+92dup (n.962+83_962+92dup)
c.330+83_330+92dup
c.73+972_73+981dup (n.73+972_73+981dup)
8g.118109999_118110004delCA2688346976EXT1c.962+84_962+89del (n.962+84_962+89del)
c.330+84_330+89del
c.73+973_73+978del (n.73+973_73+978del)
 gnomAD v4
8g.118109999_118110010delCA2688346975EXT1c.962+78_962+89del (n.962+78_962+89del)
c.330+78_330+89del
c.73+967_73+978del (n.73+967_73+978del)
 gnomAD v4
8g.118110002_118110006delCA2603954713EXT1c.962+81_962+85del (n.962+81_962+85del)
c.330+81_330+85del
c.73+970_73+974del (n.73+970_73+974del)
 dbSNP gnomAD v3 gnomAD v4
8g.118110001_118110008delinsACCCCATCCA1814088231EXT1c.962+77_962+84delinsGATGGGGT (n.962+77_962+84delinsGATGGGGT)
c.330+77_330+84delinsGATGGGGT
c.73+966_73+973delinsGATGGGGT (n.73+966_73+973delinsGATGGGGT)
8g.118110002C>ACA2501083245EXT1c.962+83G>T (n.962+83G>T)
c.330+83G>T
c.73+972G>T (n.73+972G>T)
 gnomAD v4
8g.118110002C>TCA2718209004EXT1c.962+83G>A (n.962+83G>A)
c.330+83G>A
c.73+972G>A (n.73+972G>A)
 dbSNP
8g.118110005delCA2688346977EXT1c.962+83del (n.962+83del)
c.330+83del
c.73+972del (n.73+972del)
 gnomAD v4
8g.118110007_118110013delCA1814088233EXT1c.962+77_962+83del (n.962+77_962+83del)
c.330+77_330+83del
c.73+966_73+972del (n.73+966_73+972del)
 dbSNP
8g.118110003C>TCA2718209013EXT1c.962+82G>A (n.962+82G>A)
c.330+82G>A
c.73+971G>A (n.73+971G>A)
 dbSNP
8g.118110004C>ACA2688346978EXT1c.962+81G>T (n.962+81G>T)
c.330+81G>T
c.73+970G>T (n.73+970G>T)
 gnomAD v4
8g.118110004C=CA1814088235EXT1c.962+81G= (n.962+81G=)
c.330+81G=
c.73+970G= (n.73+970G=)
8g.118110004C>TCA184682366EXT1c.962+81G>A (n.962+81G>A)
c.330+81G>A
c.73+970G>A (n.73+970G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.118110005C>ACA2579235234EXT1c.962+80G>T (n.962+80G>T)
c.330+80G>T
c.73+969G>T (n.73+969G>T)
 dbSNP gnomAD v4
8g.118110006_118110007delinsATCA1814088236EXT1c.962+78_962+79delinsAT (n.962+78_962+79delinsAT)
c.330+78_330+79delinsAT
c.73+967_73+968delinsAT (n.73+967_73+968delinsAT)
8g.118110007delCA184682368EXT1c.962+78del (n.962+78del)
c.330+78del
c.73+967del (n.73+967del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.118110007T>ACA1814088239EXT1c.962+78A>T (n.962+78A>T)
c.330+78A>T
c.73+967A>T (n.73+967A>T)
 dbSNP
8g.118110007T>CCA1118366404EXT1c.962+78A>G (n.962+78A>G)
c.330+78A>G
c.73+967A>G (n.73+967A>G)
 dbSNP gnomAD v3 gnomAD v4
8g.118110007T>GCA2580840291EXT1c.962+78A>C (n.962+78A>C)
c.330+78A>C
c.73+967A>C (n.73+967A>C)
8g.118110007T=CA1814088238EXT1c.962+78A= (n.962+78A=)
c.330+78A=
c.73+967A= (n.73+967A=)
8g.118110007dupCA2688346979EXT1c.962+78dup (n.962+78dup)
c.330+78dup
c.73+967dup (n.73+967dup)
 gnomAD v4
8g.118110008C>ACA184682369EXT1c.962+77G>T (n.962+77G>T)
c.330+77G>T
c.73+966G>T (n.73+966G>T)
 dbSNP gnomAD v3 gnomAD v4
8g.118110008C=CA1814088241EXT1c.962+77G= (n.962+77G=)
c.330+77G=
c.73+966G= (n.73+966G=)
8g.118110008C>GCA2688346981EXT1c.962+77G>C (n.962+77G>C)
c.330+77G>C
c.73+966G>C (n.73+966G>C)
 gnomAD v4
8g.118110010_118110012delCA2688346980EXT1c.962+75_962+77del (n.962+75_962+77del)
c.330+75_330+77del
c.73+964_73+966del (n.73+964_73+966del)
 gnomAD v4
8g.118110009C>GCA2688346982EXT1c.962+76G>C (n.962+76G>C)
c.330+76G>C
c.73+965G>C (n.73+965G>C)
 gnomAD v4
8g.118110009C>TCA653063145EXT1c.962+76G>A (n.962+76G>A)
c.330+76G>A
c.73+965G>A (n.73+965G>A)
 COSMIC
8g.118110010C>ACA2688346983EXT1c.962+75G>T (n.962+75G>T)
c.330+75G>T
c.73+964G>T (n.73+964G>T)
 gnomAD v4
8g.118110010C=CA1814088244EXT1c.962+75G= (n.962+75G=)
c.330+75G=
c.73+964G= (n.73+964G=)
8g.118110010C>TCA1814088245EXT1c.962+75G>A (n.962+75G>A)
c.330+75G>A
c.73+964G>A (n.73+964G>A)
 dbSNP gnomAD v4
8g.118110011C>GCA2688346985EXT1c.962+74G>C (n.962+74G>C)
c.330+74G>C
c.73+963G>C (n.73+963G>C)
 gnomAD v4
8g.118110011C>TCA2688346984EXT1c.962+74G>A (n.962+74G>A)
c.330+74G>A
c.73+963G>A (n.73+963G>A)
 gnomAD v4
8g.118110012C>TCA2688346986EXT1c.962+73G>A (n.962+73G>A)
c.330+73G>A
c.73+962G>A (n.73+962G>A)
 gnomAD v4
8g.118110013A>GCA653063149EXT1c.962+72T>C (n.962+72T>C)
c.330+72T>C
c.73+961T>C (n.73+961T>C)
 COSMIC COSMIC
8g.118110014delCA2688346987EXT1c.962+72del (n.962+72del)
c.330+72del
c.73+961del (n.73+961del)
 gnomAD v4
8g.118110014A>GCA2579235235EXT1c.962+71T>C (n.962+71T>C)
c.330+71T>C
c.73+960T>C (n.73+960T>C)
 gnomAD v4
8g.118110014A>TCA2718209016EXT1c.962+71T>A (n.962+71T>A)
c.330+71T>A
c.73+960T>A (n.73+960T>A)
 dbSNP
8g.118110015C>GCA2579235236EXT1c.962+70G>C (n.962+70G>C)
c.330+70G>C
c.73+959G>C (n.73+959G>C)
8g.118110015C>TCA2718209019EXT1c.962+70G>A (n.962+70G>A)
c.330+70G>A
c.73+959G>A (n.73+959G>A)
 dbSNP
8g.118110016T>ACA2688346988EXT1c.962+69A>T (n.962+69A>T)
c.330+69A>T
c.73+958A>T (n.73+958A>T)
 gnomAD v4
8g.118110023C>ACA2718209033EXT1c.962+62G>T (n.962+62G>T)
c.330+62G>T
c.73+951G>T (n.73+951G>T)
 dbSNP
8g.118110024T>ACA1814088248EXT1c.962+61A>T (n.962+61A>T)
c.330+61A>T
c.73+950A>T (n.73+950A>T)
 dbSNP gnomAD v4
8g.118110024T>CCA1814088249EXT1c.962+61A>G (n.962+61A>G)
c.330+61A>G
c.73+950A>G (n.73+950A>G)
 dbSNP gnomAD v4
8g.118110024T=CA1814088246EXT1c.962+61A= (n.962+61A=)
c.330+61A=
c.73+950A= (n.73+950A=)
8g.118110025G>ACA2688346989EXT1c.962+60C>T (n.962+60C>T)
c.330+60C>T
c.73+949C>T (n.73+949C>T)
 gnomAD v4
8g.118110026delCA2718209034EXT1c.962+60del (n.962+60del)
c.330+60del
c.73+949del (n.73+949del)
 dbSNP
8g.118110026G>CCA2718209038EXT1c.962+59C>G (n.962+59C>G)
c.330+59C>G
c.73+948C>G (n.73+948C>G)
 dbSNP
8g.118110026G>TCA2688346990EXT1c.962+59C>A (n.962+59C>A)
c.330+59C>A
c.73+948C>A (n.73+948C>A)
 gnomAD v4
8g.118110027A=CA1814088250EXT1c.962+58T= (n.962+58T=)
c.330+58T=
c.73+947T= (n.73+947T=)
8g.118110027A>CCA1814088251EXT1c.962+58T>G (n.962+58T>G)
c.330+58T>G
c.73+947T>G (n.73+947T>G)
 dbSNP
8g.118110029C>ACA2688346991EXT1c.962+56G>T (n.962+56G>T)
c.330+56G>T
c.73+945G>T (n.73+945G>T)
 gnomAD v4
8g.118110029C>TCA2688346992EXT1c.962+56G>A (n.962+56G>A)
c.330+56G>A
c.73+945G>A (n.73+945G>A)
 gnomAD v4
8g.118110033G>ACA2688346993EXT1c.962+52C>T (n.962+52C>T)
c.330+52C>T
c.73+941C>T (n.73+941C>T)
 gnomAD v4
8g.118110033G=CA1814088253EXT1c.962+52C= (n.962+52C=)
c.330+52C=
c.73+941C= (n.73+941C=)
8g.118110033G>TCA184682371EXT1c.962+52C>A (n.962+52C>A)
c.330+52C>A
c.73+941C>A (n.73+941C>A)
 dbSNP gnomAD v3 gnomAD v4
8g.118110034C>ACA2579235237EXT1c.962+51G>T (n.962+51G>T)
c.330+51G>T
c.73+940G>T (n.73+940G>T)
 gnomAD v4
8g.118110034C>TCA2688346994EXT1c.962+51G>A (n.962+51G>A)
c.330+51G>A
c.73+940G>A (n.73+940G>A)
 gnomAD v4
8g.118110035C>TCA2688346995EXT1c.962+50G>A (n.962+50G>A)
c.330+50G>A
c.73+939G>A (n.73+939G>A)
 dbSNP gnomAD v4
8g.118110036G>ACA2688346996EXT1c.962+49C>T (n.962+49C>T)
c.330+49C>T
c.73+938C>T (n.73+938C>T)
 dbSNP gnomAD v4
8g.118110036G=CA1814088254EXT1c.962+49C= (n.962+49C=)
c.330+49C=
c.73+938C= (n.73+938C=)
8g.118110036G>TCA584473391EXT1c.962+49C>A (n.962+49C>A)
c.330+49C>A
c.73+938C>A (n.73+938C>A)
 dbSNP gnomAD v2 gnomAD v4
8g.118110037G>ACA2718209217EXT1c.962+48C>T (n.962+48C>T)
c.330+48C>T
c.73+937C>T (n.73+937C>T)
 dbSNP
8g.118110038C>ACA2688346997EXT1c.962+47G>T (n.962+47G>T)
c.330+47G>T
c.73+936G>T (n.73+936G>T)
 gnomAD v4
8g.118110038C>GCA2688346998EXT1c.962+47G>C (n.962+47G>C)
c.330+47G>C
c.73+936G>C (n.73+936G>C)
 gnomAD v4
8g.118110038C>TCA2718209359EXT1c.962+47G>A (n.962+47G>A)
c.330+47G>A
c.73+936G>A (n.73+936G>A)
 dbSNP
8g.118110039A>GCA2688346999EXT1c.962+46T>C (n.962+46T>C)
c.330+46T>C
c.73+935T>C (n.73+935T>C)
 dbSNP gnomAD v4
8g.118110040G>ACA846253334EXT1c.962+45C>T (n.962+45C>T)
c.330+45C>T
c.73+934C>T (n.73+934C>T)
 dbSNP
8g.118110040G=CA1814088256EXT1c.962+45C= (n.962+45C=)
c.330+45C=
c.73+934C= (n.73+934C=)
8g.118110042G>ACA4854284EXT1c.962+43C>T (n.962+43C>T)
c.330+43C>T
c.73+932C>T (n.73+932C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.118110042G=CA1814088258EXT1c.962+43C= (n.962+43C=)
c.330+43C=
c.73+932C= (n.73+932C=)
8g.118110043C>ACA4854285EXT1c.962+42G>T (n.962+42G>T)
c.330+42G>T
c.73+931G>T (n.73+931G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.118110043C=CA1814088260EXT1c.962+42G= (n.962+42G=)
c.330+42G=
c.73+931G= (n.73+931G=)
8g.118110045C=CA1814088264EXT1c.962+40G= (n.962+40G=)
c.330+40G=
c.73+929G= (n.73+929G=)
8g.118110045C>TCA1814088265EXT1c.962+40G>A (n.962+40G>A)
c.330+40G>A
c.73+929G>A (n.73+929G>A)
 dbSNP
8g.118110048G>ACA2579235238EXT1c.962+37C>T (n.962+37C>T)
c.330+37C>T
c.73+926C>T (n.73+926C>T)
8g.118110048G>CCA184682373EXT1c.962+37C>G (n.962+37C>G)
c.330+37C>G
c.73+926C>G (n.73+926C>G)
 dbSNP gnomAD v4
8g.118110048G=CA1814088266EXT1c.962+37C= (n.962+37C=)
c.330+37C=
c.73+926C= (n.73+926C=)
8g.118110048G>TCA2579235239EXT1c.962+37C>A (n.962+37C>A)
c.330+37C>A
c.73+926C>A (n.73+926C>A)
8g.118110049G>CCA2718095157EXT1c.962+36C>G (n.962+36C>G)
c.330+36C>G
c.73+925C>G (n.73+925C>G)
 dbSNP
8g.118110049G=CA1814088269EXT1c.962+36C= (n.962+36C=)
c.330+36C=
c.73+925C= (n.73+925C=)
8g.118110049G>TCA4854286EXT1c.962+36C>A (n.962+36C>A)
c.330+36C>A
c.73+925C>A (n.73+925C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.118110050C>TCA2718209757EXT1c.962+35G>A (n.962+35G>A)
c.330+35G>A
c.73+924G>A (n.73+924G>A)
 dbSNP
8g.118110051dupCA2688347000EXT1c.962+34dup (n.962+34dup)
c.330+34dup
c.73+923dup (n.73+923dup)
 gnomAD v4
8g.118110052G>CCA2579235240EXT1c.962+33C>G (n.962+33C>G)
c.330+33C>G
c.73+922C>G (n.73+922C>G)
8g.118110052G>TCA2688347001EXT1c.962+33C>A (n.962+33C>A)
c.330+33C>A
c.73+922C>A (n.73+922C>A)
 gnomAD v4
8g.118110053_118110056delinsACTCCA1814088271EXT1c.962+29_962+32delinsGAGT (n.962+29_962+32delinsGAGT)
c.330+29_330+32delinsGAGT
c.73+918_73+921delinsGAGT (n.73+918_73+921delinsGAGT)
8g.118110054C>TCA2718209799EXT1c.962+31G>A (n.962+31G>A)
c.330+31G>A
c.73+920G>A (n.73+920G>A)
 dbSNP
8g.118110055_118110057delCA584473392EXT1c.962+29_962+31del (n.962+29_962+31del)
c.330+29_330+31del
c.73+918_73+920del (n.73+918_73+920del)
 dbSNP gnomAD v2 gnomAD v4
8g.118110055T>CCA184682376EXT1c.962+30A>G (n.962+30A>G)
c.330+30A>G
c.73+919A>G (n.73+919A>G)
 dbSNP gnomAD v2 gnomAD v4
8g.118110055T>GCA2579235241EXT1c.962+30A>C (n.962+30A>C)
c.330+30A>C
c.73+919A>C (n.73+919A>C)
 gnomAD v4
8g.118110055T=CA1814088273EXT1c.962+30A= (n.962+30A=)
c.330+30A=
c.73+919A= (n.73+919A=)
8g.118110056C>GCA2688347002EXT1c.962+29G>C (n.962+29G>C)
c.330+29G>C
c.73+918G>C (n.73+918G>C)
 gnomAD v4
8g.118110058C=CA1814088275EXT1c.962+27G= (n.962+27G=)
c.330+27G=
c.73+916G= (n.73+916G=)
8g.118110058C>TCA4854287EXT1c.962+27G>A (n.962+27G>A)
c.330+27G>A
c.73+916G>A (n.73+916G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.118110062G>ACA2688347003EXT1c.962+23C>T (n.962+23C>T)
c.330+23C>T
c.73+912C>T (n.73+912C>T)
 gnomAD v4
8g.118110062G>CCA584473393EXT1c.962+23C>G (n.962+23C>G)
c.330+23C>G
c.73+912C>G (n.73+912C>G)
 dbSNP gnomAD v2 gnomAD v4
8g.118110062G=CA1814088277EXT1c.962+23C= (n.962+23C=)
c.330+23C=
c.73+912C= (n.73+912C=)
8g.118110062G>TCA2688347004EXT1c.962+23C>A (n.962+23C>A)
c.330+23C>A
c.73+912C>A (n.73+912C>A)
 gnomAD v4
8g.118110063A=CA1814088278EXT1c.962+22T= (n.962+22T=)
c.330+22T=
c.73+911T= (n.73+911T=)
8g.118110063A>GCA4854288EXT1c.962+22T>C (n.962+22T>C)
c.330+22T>C
c.73+911T>C (n.73+911T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.118110064C>TCA2718209800EXT1c.962+21G>A (n.962+21G>A)
c.330+21G>A
c.73+910G>A (n.73+910G>A)
 dbSNP
8g.118110065A=CA1814088279EXT1c.962+20T= (n.962+20T=)
c.330+20T=
c.73+909T= (n.73+909T=)
8g.118110065A>CCA1118366413EXT1c.962+20T>G (n.962+20T>G)
c.330+20T>G
c.73+909T>G (n.73+909T>G)
 dbSNP gnomAD v3 gnomAD v4
8g.118110066C=CA1814088281EXT1c.962+19G= (n.962+19G=)
c.330+19G=
c.73+908G= (n.73+908G=)
8g.118110066C>GCA2688347005EXT1c.962+19G>C (n.962+19G>C)
c.330+19G>C
c.73+908G>C (n.73+908G>C)
 gnomAD v4
8g.118110066C>TCA184682380EXT1c.962+19G>A (n.962+19G>A)
c.330+19G>A
c.73+908G>A (n.73+908G>A)
 dbSNP gnomAD v4
8g.118110067G>ACA4854289EXT1c.962+18C>T (n.962+18C>T)
c.330+18C>T
c.73+907C>T (n.73+907C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.118110067G>CCA2718094732EXT1c.962+18C>G (n.962+18C>G)
c.330+18C>G
c.73+907C>G (n.73+907C>G)
 dbSNP
8g.118110067G=CA1814088283EXT1c.962+18C= (n.962+18C=)
c.330+18C=
c.73+907C= (n.73+907C=)
8g.118110067_118110068delinsGCCA1814088284EXT1c.962+17_962+18delinsGC (n.962+17_962+18delinsGC)
c.330+17_330+18delinsGC
c.73+906_73+907delinsGC (n.73+906_73+907delinsGC)
8g.118110068C=CA1814088286EXT1c.962+17G= (n.962+17G=)
c.330+17G=
c.73+906G= (n.73+906G=)
8g.118110068C>TCA184682382EXT1c.962+17G>A (n.962+17G>A)
c.330+17G>A
c.73+906G>A (n.73+906G>A)
 dbSNP
8g.118110069delCA4854290EXT1c.962+17del (n.962+17del)
c.330+17del
c.73+906del (n.73+906del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.118110069C>GCA2688347006EXT1c.962+16G>C (n.962+16G>C)
c.330+16G>C
c.73+905G>C (n.73+905G>C)
 gnomAD v4
8g.118110070A>GCA2688347007EXT1c.962+15T>C (n.962+15T>C)
c.330+15T>C
c.73+904T>C (n.73+904T>C)
 gnomAD v4
8g.118110071G>ACA4854291EXT1c.962+14C>T (n.962+14C>T)
c.330+14C>T
c.73+903C>T (n.73+903C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.118110071G=CA1814088288EXT1c.962+14C= (n.962+14C=)
c.330+14C=
c.73+903C= (n.73+903C=)
8g.118110071G>TCA2688347008EXT1c.962+14C>A (n.962+14C>A)
c.330+14C>A
c.73+903C>A (n.73+903C>A)
 gnomAD v4
8g.118110072C>ACA2579235242EXT1c.962+13G>T (n.962+13G>T)
c.330+13G>T
c.73+902G>T (n.73+902G>T)
8g.118110072C=CA1814088289EXT1c.962+13G= (n.962+13G=)
c.330+13G=
c.73+902G= (n.73+902G=)
8g.118110072C>GCA1814088290EXT1c.962+13G>C (n.962+13G>C)
c.330+13G>C
c.73+902G>C (n.73+902G>C)
 dbSNP
8g.118110072C>TCA2718150859EXT1c.962+13G>A (n.962+13G>A)
c.330+13G>A
c.73+902G>A (n.73+902G>A)
 dbSNP
8g.118110073_118110080delCA2688347009EXT1c.962+6_962+13del (n.962+6_962+13del)
c.330+6_330+13del
c.73+895_73+902del (n.73+895_73+902del)
 gnomAD v4
8g.118110073C>ACA4854293EXT1c.962+12G>T (n.962+12G>T)
c.330+12G>T
c.73+901G>T (n.73+901G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.118110073C=CA1814088292EXT1c.962+12G= (n.962+12G=)
c.330+12G=
c.73+901G= (n.73+901G=)
8g.118110073C>TCA1814088293EXT1c.962+12G>A (n.962+12G>A)
c.330+12G>A
c.73+901G>A (n.73+901G>A)
 dbSNP
8g.118110073_118110077delinsCCAGACA1814088296EXT1c.962+8_962+12delinsTCTGG (n.962+8_962+12delinsTCTGG)
c.330+8_330+12delinsTCTGG
c.73+897_73+901delinsTCTGG (n.73+897_73+901delinsTCTGG)
8g.118110076_118110079dupCA184682387EXT1c.962+8_962+11dup (n.962+8_962+11dup)
c.330+8_330+11dup
c.73+897_73+900dup (n.73+897_73+900dup)
 dbSNP
8g.118110076_118110079delCA4854292EXT1c.962+8_962+11del (n.962+8_962+11del)
c.330+8_330+11del
c.73+897_73+900del (n.73+897_73+900del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.118110076G>ACA2688347010EXT1c.962+9C>T (n.962+9C>T)
c.330+9C>T
c.73+898C>T (n.73+898C>T)
 gnomAD v4
8g.118110076G>CCA2718209819EXT1c.962+9C>G (n.962+9C>G)
c.330+9C>G
c.73+898C>G (n.73+898C>G)
 dbSNP
8g.118110077A=CA1814088301EXT1c.962+8T= (n.962+8T=)
c.330+8T=
c.73+897T= (n.73+897T=)
8g.118110077A>CCA1814088302EXT1c.962+8T>G (n.962+8T>G)
c.330+8T>G
c.73+897T>G (n.73+897T>G)
 dbSNP
8g.118110078C>ACA1814088307EXT1c.962+7G>T (n.962+7G>T)
c.330+7G>T
c.73+896G>T (n.73+896G>T)
 dbSNP gnomAD v4
8g.118110078C=CA1814088305EXT1c.962+7G= (n.962+7G=)
c.330+7G=
c.73+896G= (n.73+896G=)
8g.118110078C>GCA4854295EXT1c.962+7G>C (n.962+7G>C)
c.330+7G>C
c.73+896G>C (n.73+896G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.118110078C>TCA4854294EXT1c.962+7G>A (n.962+7G>A)
c.330+7G>A
c.73+896G>A (n.73+896G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.118110078_118110082delinsCACTTCA1814088308EXT1c.962+3_962+7delinsAAGTG (n.962+3_962+7delinsAAGTG)
c.330+3_330+7delinsAAGTG
c.73+892_73+896delinsAAGTG (n.73+892_73+896delinsAAGTG)
8g.118110079A=CA1814088314EXT1c.962+6T= (n.962+6T=)
c.330+6T=
c.73+895T= (n.73+895T=)
8g.118110079A>GCA4854296EXT1c.962+6T>C (n.962+6T>C)
c.330+6T>C
c.73+895T>C (n.73+895T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.118110079A>TCA2718098367EXT1c.962+6T>A (n.962+6T>A)
c.330+6T>A
c.73+895T>A (n.73+895T>A)
 dbSNP
8g.118110083_118110086delCA913184923EXT1c.962+3_962+6del
c.330+3_330+6del
c.73+892_73+895del (n.73+892_73+895del)
 ClinVar dbSNP gnomAD v4
8g.118110080C=CA1814088316EXT1c.962+5G= (n.962+5G=)
c.330+5G=
c.73+894G= (n.73+894G=)
8g.118110080C>GCA1814088318EXT1c.962+5G>C (n.962+5G>C)
c.330+5G>C
c.73+894G>C (n.73+894G>C)
 ClinVar dbSNP
8g.118110080C>TCA2688347011EXT1c.962+5G>A (n.962+5G>A)
c.330+5G>A
c.73+894G>A (n.73+894G>A)
 gnomAD v4
8g.118110082T>CCA4854297EXT1c.962+3A>G (n.962+3A>G)
c.330+3A>G
c.73+892A>G (n.73+892A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.118110082T=CA1814088320EXT1c.962+3A= (n.962+3A=)
c.330+3A=
c.73+892A= (n.73+892A=)
8g.118110083A>CCA371914647EXT1c.962+2T>G (n.962+2T>G)
c.330+2T>G
c.73+891T>G (n.73+891T>G)
8g.118110083A>GCA371914648EXT1c.962+2T>C (n.962+2T>C)
c.330+2T>C
c.73+891T>C (n.73+891T>C)
8g.118110083A>TCA371914649EXT1c.962+2T>A (n.962+2T>A)
c.330+2T>A
c.73+891T>A (n.73+891T>A)
8g.118110084C>ACA10588450EXT1c.962+1G>T (n.962+1G>T)
c.330+1G>T
c.73+890G>T (n.73+890G>T)
 ClinVar dbSNP COSMIC
8g.118110084C=CA1814088325EXT1c.962+1G= (n.962+1G=)
c.330+1G=
c.73+890G= (n.73+890G=)
8g.118110084C>GCA371914651EXT1c.962+1G>C (n.962+1G>C)
c.330+1G>C
c.73+890G>C (n.73+890G>C)
 ClinVar dbSNP
8g.118110084C>TCA371914650EXT1c.962+1G>A (n.962+1G>A)
c.330+1G>A
c.73+890G>A (n.73+890G>A)
 ClinVar dbSNP
8g.118110085T>ACA371914652EXT1c.962A>T (p.Lys321Met)
c.330A>T
c.73+889A>T (n.73+889A>T)
8g.118110085T>CCA4854298EXT1c.962A>G (p.Lys321Arg)
c.330A>G
c.73+889A>G (n.73+889A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.118110085T>GCA371914653EXT1c.962A>C (p.Lys321Thr)
c.330A>C
c.73+889A>C (n.73+889A>C)
 gnomAD v4
8g.118110085T=CA1814088329EXT1c.962A= (p.Lys321=)
c.330A=
c.73+889A= (n.73+889A=)
8g.118110086T>ACA371914654EXT1c.961A>T (p.Lys321Ter)
c.329A>T
c.73+888A>T (n.73+888A>T)
 ClinVar dbSNP
8g.118110086T>CCA371914655EXT1c.961A>G (p.Lys321Glu)
c.329A>G
c.73+888A>G (n.73+888A>G)
8g.118110086T>GCA371914656EXT1c.961A>C (p.Lys321Gln)
c.329A>C
c.73+888A>C (n.73+888A>C)
8g.118110086T=CA1814088333EXT1c.961A= (p.Lys321=)
c.329A=
c.73+888A= (n.73+888A=)
8g.118110087delCA2695210132EXT1c.960del (p.Lys321SerfsTer?)
c.328del
c.73+887del (n.73+887del)
8g.118110087C>ACA371914657EXT1c.960G>T (p.Glu320Asp)
c.328G>T
c.73+887G>T (n.73+887G>T)
8g.118110087C>GCA371914658EXT1c.960G>C (p.Glu320Asp)
c.328G>C
c.73+887G>C (n.73+887G>C)
8g.118110087C>TCA462471421EXT1c.960G>A (p.Glu320=)
c.328G>A
c.73+887G>A (n.73+887G>A)
8g.118110088delCA462471422EXT1c.959del (p.Glu320GlyfsTer?)
c.327del
c.73+886del (n.73+886del)
 COSMIC
8g.118110088T>ACA371914659EXT1c.959A>T (p.Glu320Val)
c.327A>T
c.73+886A>T (n.73+886A>T)
8g.118110088T>CCA371914660EXT1c.959A>G (p.Glu320Gly)
c.327A>G
c.73+886A>G (n.73+886A>G)
8g.118110088T>GCA371914661EXT1c.959A>C (p.Glu320Ala)
c.327A>C
c.73+886A>C (n.73+886A>C)
8g.118110089C>ACA371914662EXT1c.958G>T (p.Glu320Ter)
c.326G>T
c.73+885G>T (n.73+885G>T)
 dbSNP
8g.118110089C=CA1814088336EXT1c.958G= (p.Glu320=)
c.326G=
c.73+885G= (n.73+885G=)
8g.118110089C>GCA371914663EXT1c.958G>C (p.Glu320Gln)
c.326G>C
c.73+885G>C (n.73+885G>C)
 dbSNP gnomAD v2 gnomAD v4
8g.118110089C>TCA371914664EXT1c.958G>A (p.Glu320Lys)
c.326G>A
c.73+885G>A (n.73+885G>A)
 dbSNP
8g.118110090A=CA1814088340EXT1c.957T= (p.Tyr319=)
c.325T=
c.73+884T= (n.73+884T=)
8g.118110090A>CCA371914666EXT1c.957T>G (p.Tyr319Ter)
c.325T>G
c.73+884T>G (n.73+884T>G)
 gnomAD v4
8g.118110090A>GCA462471423EXT1c.957T>C (p.Tyr319=)
c.325T>C
c.73+884T>C (n.73+884T>C)
8g.118110090A>TCA371914665EXT1c.957T>A (p.Tyr319Ter)
c.325T>A
c.73+884T>A (n.73+884T>A)
 ClinVar dbSNP
8g.118110091T>ACA371914667EXT1c.956A>T (p.Tyr319Phe)
c.324A>T
c.73+883A>T (n.73+883A>T)
 gnomAD v4
8g.118110091T>CCA371914669EXT1c.956A>G (p.Tyr319Cys)
c.324A>G
c.73+883A>G (n.73+883A>G)
 gnomAD v4
8g.118110091T>GCA371914668EXT1c.956A>C (p.Tyr319Ser)
c.324A>C
c.73+883A>C (n.73+883A>C)
8g.118110092A=CA1814088343EXT1c.955T= (p.Tyr319=)
c.323T=
c.73+882T= (n.73+882T=)
8g.118110092A>CCA371914670EXT1c.955T>G (p.Tyr319Asp)
c.323T>G
c.73+882T>G (n.73+882T>G)
8g.118110092A>GCA371914672EXT1c.955T>C (p.Tyr319His)
c.323T>C
c.73+882T>C (n.73+882T>C)
 dbSNP
8g.118110092A>TCA371914671EXT1c.955T>A (p.Tyr319Asn)
c.323T>A
c.73+882T>A (n.73+882T>A)
 dbSNP gnomAD v4
8g.118110093C>ACA371914673EXT1c.954G>T (p.Glu318Asp)
c.322G>T
c.73+881G>T (n.73+881G>T)
8g.118110093C=CA1814088345EXT1c.954G= (p.Glu318=)
c.322G=
c.73+881G= (n.73+881G=)
8g.118110093C>GCA371914674EXT1c.954G>C (p.Glu318Asp)
c.322G>C
c.73+881G>C (n.73+881G>C)
 gnomAD v4
8g.118110093C>TCA462471424EXT1c.954G>A (p.Glu318=)
c.322G>A
c.73+881G>A (n.73+881G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.118110094T>ACA371914675EXT1c.953A>T (p.Glu318Val)
c.321A>T
c.73+880A>T (n.73+880A>T)
8g.118110094T>CCA371914676EXT1c.953A>G (p.Glu318Gly)
c.321A>G
c.73+880A>G (n.73+880A>G)
 dbSNP
8g.118110094T>GCA371914677EXT1c.953A>C (p.Glu318Ala)
c.321A>C
c.73+880A>C (n.73+880A>C)
 gnomAD v4
8g.118110094T=CA1814088347EXT1c.953A= (p.Glu318=)
c.321A=
c.73+880A= (n.73+880A=)
8g.118110095C>ACA371914678EXT1c.952G>T (p.Glu318Ter)
c.320G>T
c.73+879G>T (n.73+879G>T)
8g.118110095C>GCA371914679EXT1c.952G>C (p.Glu318Gln)
c.320G>C
c.73+879G>C (n.73+879G>C)
 gnomAD v4
8g.118110095C>TCA371914680EXT1c.952G>A (p.Glu318Lys)
c.320G>A
c.73+879G>A (n.73+879G>A)
8g.118110096G>ACA462471425EXT1c.951C>T (p.Thr317=)
c.319C>T
c.73+878C>T (n.73+878C>T)
 dbSNP gnomAD v4
8g.118110096G>CCA462471426EXT1c.951C>G (p.Thr317=)
c.319C>G
c.73+878C>G (n.73+878C>G)
 dbSNP gnomAD v4
8g.118110096G=CA1814088351EXT1c.951C= (p.Thr317=)
c.319C=
c.73+878C= (n.73+878C=)
8g.118110096G>TCA462471427EXT1c.951C>A (p.Thr317=)
c.319C>A
c.73+878C>A (n.73+878C>A)
 dbSNP
8g.118110097G>ACA371914681EXT1c.950C>T (p.Thr317Ile)
c.318C>T
c.73+877C>T (n.73+877C>T)
 dbSNP
8g.118110097G>CCA4854299EXT1c.950C>G (p.Thr317Ser)
c.318C>G
c.73+877C>G (n.73+877C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.118110097G=CA1814088353EXT1c.950C= (p.Thr317=)
c.318C=
c.73+877C= (n.73+877C=)
8g.118110097G>TCA371914682EXT1c.950C>A (p.Thr317Asn)
c.318C>A
c.73+877C>A (n.73+877C>A)
 dbSNP gnomAD v3 gnomAD v4
8g.118110098delCA2697550118EXT1c.949del (p.Thr317ProfsTer?)
c.317del
c.73+876del (n.73+876del)
 ClinVar
8g.118110098T>ACA371914685EXT1c.949A>T (p.Thr317Ser)
c.317A>T
c.73+876A>T (n.73+876A>T)
8g.118110098T>CCA371914683EXT1c.949A>G (p.Thr317Ala)
c.317A>G
c.73+876A>G (n.73+876A>G)
8g.118110098T>GCA371914684EXT1c.949A>C (p.Thr317Pro)
c.317A>C
c.73+876A>C (n.73+876A>C)
8g.118110099G>ACA462471428EXT1c.948C>T (p.Asn316=)
c.316C>T
c.73+875C>T (n.73+875C>T)
 dbSNP
8g.118110099G>CCA371914686EXT1c.948C>G (p.Asn316Lys)
c.316C>G
c.73+875C>G (n.73+875C>G)
8g.118110099G>TCA371914687EXT1c.948C>A (p.Asn316Lys)
c.316C>A
c.73+875C>A (n.73+875C>A)
8g.118110100T>ACA371914688EXT1c.947A>T (p.Asn316Ile)
c.315A>T
c.73+874A>T (n.73+874A>T)
8g.118110100T>CCA371914689EXT1c.947A>G (p.Asn316Ser)
c.315A>G
c.73+874A>G (n.73+874A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.118110100T>GCA371914690EXT1c.947A>C (p.Asn316Thr)
c.315A>C
c.73+874A>C (n.73+874A>C)
8g.118110100T=CA1814088355EXT1c.947A= (p.Asn316=)
c.315A=
c.73+874A= (n.73+874A=)
8g.118110101T>ACA371914691EXT1c.946A>T (p.Asn316Tyr)
c.314A>T
c.73+873A>T (n.73+873A>T)
8g.118110101T>CCA371914692EXT1c.946A>G (p.Asn316Asp)
c.314A>G
c.73+873A>G (n.73+873A>G)
 gnomAD v4
8g.118110101T>GCA371914693EXT1c.946A>C (p.Asn316His)
c.314A>C
c.73+873A>C (n.73+873A>C)

Number of alleles fetched