Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.120627148_120627151delinsAGCTCA2454931017C1GALT1C1c.16_19delinsAGCT (p.Ser6=)
Xg.120627152_120627154delCA1136817108C1GALT1C1c.16_18del (p.Ser6del)
dbSNP gnomAD v3 gnomAD v4
Xg.120627150C>ACA414210972C1GALT1C1c.17G>T (p.Ser6Ile)
Xg.120627150C=CA2454931018C1GALT1C1c.17G= (p.Ser6=)
Xg.120627150C>GCA414210970C1GALT1C1c.17G>C (p.Ser6Thr)
Xg.120627150C>TCA10506009C1GALT1C1c.17G>A (p.Ser6Asn)
dbSNP ExAC
Xg.120627151_120627157delCA2823267478C1GALT1C1c.11_17del (p.Glu4AlafsTer4)
Xg.120627150_120627151insACTGCA2823267479C1GALT1C1c.16_17insCAGT (p.Ser6ThrfsTer25)
Xg.120627151T>ACA414210974C1GALT1C1c.16A>T (p.Ser6Cys)
Xg.120627151T>CCA10506010C1GALT1C1c.16A>G (p.Ser6Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.120627151T>GCA414210976C1GALT1C1c.16A>C (p.Ser6Arg)
Xg.120627151T=CA2454931019C1GALT1C1c.16A= (p.Ser6=)
Xg.120627152G>ACA518226108C1GALT1C1c.15C>T (p.Ser5=)
gnomAD v4
Xg.120627152G>CCA414210979C1GALT1C1c.15C>G (p.Ser5Arg)
Xg.120627152G>TCA414210981C1GALT1C1c.15C>A (p.Ser5Arg)
Xg.120627153C>ACA414210984C1GALT1C1c.14G>T (p.Ser5Ile)
gnomAD v4
Xg.120627153C>GCA414210987C1GALT1C1c.14G>C (p.Ser5Thr)
Xg.120627153C>TCA414210989C1GALT1C1c.14G>A (p.Ser5Asn)
Xg.120627154T>ACA414210992C1GALT1C1c.13A>T (p.Ser5Cys)
Xg.120627154T>CCA414210993C1GALT1C1c.13A>G (p.Ser5Gly)
gnomAD v4
Xg.120627154T>GCA414210995C1GALT1C1c.13A>C (p.Ser5Arg)
Xg.120627155T>ACA414210999C1GALT1C1c.12A>T (p.Glu4Asp)
Xg.120627155T>CCA518226109C1GALT1C1c.12A>G (p.Glu4=)
gnomAD v4
Xg.120627155T>GCA414210998C1GALT1C1c.12A>C (p.Glu4Asp)
Xg.120627156T>ACA414211003C1GALT1C1c.11A>T (p.Glu4Val)
Xg.120627156T>CCA414211005C1GALT1C1c.11A>G (p.Glu4Gly)
Xg.120627156T>GCA414211007C1GALT1C1c.11A>C (p.Glu4Ala)
Xg.120627157C>ACA414211010C1GALT1C1c.10G>T (p.Glu4Ter)
Xg.120627157C>GCA414211013C1GALT1C1c.10G>C (p.Glu4Gln)
Xg.120627157C>TCA414211015C1GALT1C1c.10G>A (p.Glu4Lys)
COSMIC
Xg.120627158A=CA2454931020C1GALT1C1c.9T= (p.Ser3=)
Xg.120627158A>CCA518226110C1GALT1C1c.9T>G (p.Ser3=)
Xg.120627158A>GCA518226111C1GALT1C1c.9T>C (p.Ser3=)
dbSNP
Xg.120627158A>TCA518226112C1GALT1C1c.9T>A (p.Ser3=)
dbSNP
Xg.120627159G>ACA10506011C1GALT1C1c.8C>T (p.Ser3Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.120627159G>CCA414211018C1GALT1C1c.8C>G (p.Ser3Cys)
Xg.120627159G=CA2454931021C1GALT1C1c.8C= (p.Ser3=)
Xg.120627159G>TCA414211020C1GALT1C1c.8C>A (p.Ser3Tyr)
Xg.120627160A>CCA414211025C1GALT1C1c.7T>G (p.Ser3Ala)
Xg.120627160A>GCA414211027C1GALT1C1c.7T>C (p.Ser3Pro)
Xg.120627160A>TCA414211029C1GALT1C1c.7T>A (p.Ser3Thr)
Xg.120627161A>CCA518226113C1GALT1C1c.6T>G (p.Leu2=)
Xg.120627161A>GCA518226114C1GALT1C1c.6T>C (p.Leu2=)
gnomAD v4
Xg.120627161A>TCA518226115C1GALT1C1c.6T>A (p.Leu2=)
Xg.120627162A>CCA414211031C1GALT1C1c.5T>G (p.Leu2Arg)
Xg.120627162A>GCA414211036C1GALT1C1c.5T>C (p.Leu2Pro)
gnomAD v4
Xg.120627162A>TCA414211039C1GALT1C1c.5T>A (p.Leu2His)
Xg.120627163G>ACA414211041C1GALT1C1c.4C>T (p.Leu2Phe)
COSMIC
Xg.120627163G>CCA414211043C1GALT1C1c.4C>G (p.Leu2Val)
Xg.120627163G>TCA414211044C1GALT1C1c.4C>A (p.Leu2Ile)
Xg.120627164C>ACA414211046C1GALT1C1c.3G>T (p.Met1Ile)
Xg.120627164C=CA2454931022C1GALT1C1c.3G= (p.Met1=)
Xg.120627164C>GCA130370C1GALT1C1c.3G>C (p.Met1Ile)
ClinVar dbSNP
Xg.120627164C>TCA414211049C1GALT1C1c.3G>A (p.Met1Ile)
Xg.120627165A>CCA414211050C1GALT1C1c.2T>G (p.Met1Arg)
Xg.120627165A>GCA414211054C1GALT1C1c.2T>C (p.Met1Thr)
Xg.120627165A>TCA414211052C1GALT1C1c.2T>A (p.Met1Lys)
Xg.120627165_120627166insGCTCCCA2823267480C1GALT1C1c.1_2insGGAGC (p.Met1ArgfsTer11)
Xg.120627166T>ACA414211056C1GALT1C1c.1A>T (p.Met1Leu)
Xg.120627166T>CCA414211058C1GALT1C1c.1A>G (p.Met1Val)
Xg.120627166T>GCA414211060C1GALT1C1c.1A>C (p.Met1Leu)
Xg.120627170delCA2579693209C1GALT1C1c.1del (p.Met1CysfsTer9)
gnomAD v4
Xg.120627167T>ACA2694604445C1GALT1C1c.-1A>T (n.-1A>T)
gnomAD v4
Xg.120627168T>CCA2579693210C1GALT1C1c.-2A>G (n.-2A>G)
gnomAD v4
Xg.120627169T>GCA2454931024C1GALT1C1c.-3A>C (n.-3A>C)
dbSNP
Xg.120627169T=CA2454931023C1GALT1C1c.-3A= (n.-3A=)
Xg.120627170_120627173delCA2823267481C1GALT1C1c.-5-1_-3del
Xg.120627170_120627177delCA2823267482C1GALT1C1c.-5-6_-4del
Xg.120627171C>ACA2579693211C1GALT1C1c.-5G>T (n.-5G>T)
gnomAD v4
Xg.120627172C>ACA2694604446C1GALT1C1c.-5-1G>T (n.-5-1G>T)
gnomAD v4
Xg.120627173_120627175delCA2823267483C1GALT1C1c.-5-4_-5-2del (n.-5-4_-5-2del)
Xg.120627174A=CA2454931025C1GALT1C1c.-5-3T= (n.-5-3T=)
Xg.120627174A>GCA644085482C1GALT1C1c.-5-3T>C (n.-5-3T>C)
dbSNP gnomAD v2 gnomAD v4
Xg.120627174_120627175insAGCA2823267484C1GALT1C1c.-5-4_-5-3insCT (n.-5-4_-5-3insCT)
Xg.120627174_120627175insAGTCA2823267485C1GALT1C1c.-5-4_-5-3insACT (n.-5-4_-5-3insACT)
Xg.120627175T>ACA10506012C1GALT1C1c.-5-4A>T (n.-5-4A>T)
dbSNP ExAC gnomAD v4
Xg.120627175T>CCA2694604447C1GALT1C1c.-5-4A>G (n.-5-4A>G)
gnomAD v4
Xg.120627175T=CA2454931026C1GALT1C1c.-5-4A= (n.-5-4A=)
Xg.120627178delCA2579693212C1GALT1C1c.-5-5del (n.-5-5del)
Xg.120627177A>CCA2823267486C1GALT1C1c.-5-6T>G (n.-5-6T>G)
Xg.120627177A>GCA2694604448C1GALT1C1c.-5-6T>C (n.-5-6T>C)
gnomAD v4
Xg.120627177A>TCA2579693213C1GALT1C1c.-5-6T>A (n.-5-6T>A)
Xg.120627179G>ACA2454931028C1GALT1C1c.-5-8C>T (n.-5-8C>T)
dbSNP gnomAD v3 gnomAD v4
Xg.120627179G=CA2454931027C1GALT1C1c.-5-8C= (n.-5-8C=)
Xg.120627180A>TCA2823267487C1GALT1C1c.-5-9T>A (n.-5-9T>A)
Xg.120627182G>ACA870757663C1GALT1C1c.-5-11C>T (n.-5-11C>T)
dbSNP gnomAD v3 gnomAD v4
Xg.120627182G=CA2454931029C1GALT1C1c.-5-11C= (n.-5-11C=)
Xg.120627182G>TCA2694604449C1GALT1C1c.-5-11C>A (n.-5-11C>A)
gnomAD v4
Xg.120627184A=CA2454931030C1GALT1C1c.-5-13T= (n.-5-13T=)
Xg.120627184A>CCA2454931031C1GALT1C1c.-5-13T>G (n.-5-13T>G)
dbSNP gnomAD v3 gnomAD v4
Xg.120627184A>GCA2565501290C1GALT1C1c.-5-13T>C (n.-5-13T>C)
Xg.120627186A>CCA2823267489C1GALT1C1c.-5-15T>G (n.-5-15T>G)
Xg.120627186_120627192delCA2823267488C1GALT1C1c.-5-21_-5-15del (n.-5-21_-5-15del)
Xg.120627188delCA2694604450C1GALT1C1c.-5-17del (n.-5-17del)
gnomAD v4
Xg.120627188G=CA2454931033C1GALT1C1c.-5-17C= (n.-5-17C=)
Xg.120627188G>TCA10506013C1GALT1C1c.-5-17C>A (n.-5-17C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.120627188_120627194delinsGACTCTTCA2454931032C1GALT1C1c.-5-23_-5-17delinsAAGAGTC (n.-5-23_-5-17delinsAAGAGTC)
Xg.120627190_120627195delCA2454931034C1GALT1C1c.-5-23_-5-18del (n.-5-23_-5-18del)
dbSNP gnomAD v4
Xg.120627190C>TCA2504521671C1GALT1C1c.-5-19G>A (n.-5-19G>A)
Xg.120627191T>ACA2823267491C1GALT1C1c.-5-20A>T (n.-5-20A>T)
Xg.120627191T>CCA2549288168C1GALT1C1c.-5-20A>G (n.-5-20A>G)
Xg.120627191_120627196delCA2823267490C1GALT1C1c.-5-25_-5-20del (n.-5-25_-5-20del)
Xg.120627192C>ACA2694604451C1GALT1C1c.-5-21G>T (n.-5-21G>T)
gnomAD v4
Xg.120627192C=CA2454931035C1GALT1C1c.-5-21G= (n.-5-21G=)
Xg.120627192C>GCA870757667C1GALT1C1c.-5-21G>C (n.-5-21G>C)
dbSNP
Xg.120627193T>ACA2823267493C1GALT1C1c.-5-22A>T (n.-5-22A>T)
Xg.120627193_120627194delCA2823267492C1GALT1C1c.-5-23_-5-22del (n.-5-23_-5-22del)
Xg.120627193_120627195delCA2823267494C1GALT1C1c.-5-24_-5-22del (n.-5-24_-5-22del)
Xg.120627194T>ACA2694604452C1GALT1C1c.-5-23A>T (n.-5-23A>T)
gnomAD v4
Xg.120627194_120627197delCA2823267495C1GALT1C1c.-5-26_-5-23del (n.-5-26_-5-23del)
Xg.120627198delCA2823267496C1GALT1C1c.-5-24del (n.-5-24del)
Xg.120627196A>CCA2823267498C1GALT1C1c.-5-25T>G (n.-5-25T>G)
Xg.120627197_120627200delCA2823267497C1GALT1C1c.-5-28_-5-25del (n.-5-28_-5-25del)
Xg.120627197A>CCA2823267499C1GALT1C1c.-5-26T>G (n.-5-26T>G)
Xg.120627198A>TCA2823267500C1GALT1C1c.-5-27T>A (n.-5-27T>A)
Xg.120627199T>CCA10506014C1GALT1C1c.-5-28A>G (n.-5-28A>G)
dbSNP ExAC gnomAD v4
Xg.120627199T=CA2454931036C1GALT1C1c.-5-28A= (n.-5-28A=)
Xg.120627202T>GCA644085483C1GALT1C1c.-5-31A>C (n.-5-31A>C)
dbSNP gnomAD v2 gnomAD v4
Xg.120627202T=CA2454931037C1GALT1C1c.-5-31A= (n.-5-31A=)
Xg.120627202_120627203delCA2823267501C1GALT1C1c.-5-32_-5-31del (n.-5-32_-5-31del)
Xg.120627202_120627204delCA2823267502C1GALT1C1c.-5-33_-5-31del (n.-5-33_-5-31del)
Xg.120627203T>ACA2694604453C1GALT1C1c.-5-32A>T (n.-5-32A>T)
gnomAD v4
Xg.120627203_120627204delCA2823267503C1GALT1C1c.-5-33_-5-32del (n.-5-33_-5-32del)
Xg.120627204A=CA2454931038C1GALT1C1c.-5-33T= (n.-5-33T=)
Xg.120627204A>CCA870757670C1GALT1C1c.-5-33T>G (n.-5-33T>G)
dbSNP gnomAD v3 gnomAD v4
Xg.120627204_120627205insCGCA2823267504C1GALT1C1c.-5-34_-5-33insCG (n.-5-34_-5-33insCG)
Xg.120627205A>GCA2607958486C1GALT1C1c.-5-34T>C (n.-5-34T>C)
gnomAD v4
Xg.120627206T>CCA2454931040C1GALT1C1c.-5-35A>G (n.-5-35A>G)
dbSNP gnomAD v3 gnomAD v4
Xg.120627206T>GCA2823267505C1GALT1C1c.-5-35A>C (n.-5-35A>C)
Xg.120627206T=CA2454931039C1GALT1C1c.-5-35A= (n.-5-35A=)
Xg.120627213delCA2694604454C1GALT1C1c.-5-38del (n.-5-38del)
gnomAD v4
Xg.120627213A=CA2454931041C1GALT1C1c.-5-42T= (n.-5-42T=)
Xg.120627213A>CCA10506015C1GALT1C1c.-5-42T>G (n.-5-42T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.120627213A>GCA2579693214C1GALT1C1c.-5-42T>C (n.-5-42T>C)
Xg.120627214G>ACA870757673C1GALT1C1c.-5-43C>T (n.-5-43C>T)
dbSNP gnomAD v3 gnomAD v4
Xg.120627214G=CA2454931042C1GALT1C1c.-5-43C= (n.-5-43C=)
Xg.120627214G>TCA10506016C1GALT1C1c.-5-43C>A (n.-5-43C>A)
dbSNP ExAC gnomAD v4
Xg.120627216T>ACA2694604455C1GALT1C1c.-5-45A>T (n.-5-45A>T)
c.-6+40A>T (n.-6+40A>T)
gnomAD v4
Xg.120627216T>CCA10506017C1GALT1C1c.-5-45A>G (n.-5-45A>G)
c.-6+40A>G (n.-6+40A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.120627216T>GCA2694604456C1GALT1C1c.-5-45A>C (n.-5-45A>C)
c.-6+40A>C (n.-6+40A>C)
gnomAD v4
Xg.120627216T=CA2454931043C1GALT1C1c.-5-45A= (n.-5-45A=)
c.-6+40A= (n.-6+40A=)
Xg.120627217T>ACA2694604457C1GALT1C1c.-5-46A>T (n.-5-46A>T)
c.-6+39A>T (n.-6+39A>T)
gnomAD v4
Xg.120627219G>TCA2694604458C1GALT1C1c.-5-48C>A (n.-5-48C>A)
c.-6+37C>A (n.-6+37C>A)
gnomAD v4
Xg.120627220T>ACA2823267507C1GALT1C1c.-5-49A>T (n.-5-49A>T)
c.-6+36A>T (n.-6+36A>T)
Xg.120627221_120627222delCA2823267506C1GALT1C1c.-5-50_-5-49del (n.-5-50_-5-49del)
c.-6+35_-6+36del (n.-6+35_-6+36del)
Xg.120627220_120627221insACAACA2823267510C1GALT1C1c.-5-50_-5-49insTTGT (n.-5-50_-5-49insTTGT)
c.-6+35_-6+36insTTGT (n.-6+35_-6+36insTTGT)
Xg.120627220_120627221insACACCA2823267508C1GALT1C1c.-5-50_-5-49insGTGT (n.-5-50_-5-49insGTGT)
c.-6+35_-6+36insGTGT (n.-6+35_-6+36insGTGT)
Xg.120627221C>ACA334145143C1GALT1C1c.-5-50G>T (n.-5-50G>T)
c.-6+35G>T (n.-6+35G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.120627221C=CA2454931044C1GALT1C1c.-5-50G= (n.-5-50G=)
c.-6+35G= (n.-6+35G=)
Xg.120627221C>TCA2454931045C1GALT1C1c.-5-50G>A (n.-5-50G>A)
c.-6+35G>A (n.-6+35G>A)
dbSNP
Xg.120627221_120627225delCA2823267509C1GALT1C1c.-5-54_-5-50del (n.-5-54_-5-50del)
c.-6+31_-6+35del (n.-6+31_-6+35del)
Xg.120627221_120627222insAGTCA2823267511C1GALT1C1c.-5-51_-5-50insACT (n.-5-51_-5-50insACT)
c.-6+34_-6+35insACT (n.-6+34_-6+35insACT)
Xg.120627222delCA2823267512C1GALT1C1c.-5-51del (n.-5-51del)
c.-6+34del (n.-6+34del)
Xg.120627222_120627224delCA2823267513C1GALT1C1c.-5-53_-5-51del (n.-5-53_-5-51del)
c.-6+32_-6+34del (n.-6+32_-6+34del)
Xg.120627223A>GCA2579693215C1GALT1C1c.-5-52T>C (n.-5-52T>C)
c.-6+33T>C (n.-6+33T>C)
gnomAD v4
Xg.120627224delCA2694604459C1GALT1C1c.-5-53del (n.-5-53del)
c.-6+32del (n.-6+32del)
gnomAD v4
Xg.120627224T>CCA2454931047C1GALT1C1c.-5-53A>G (n.-5-53A>G)
c.-6+32A>G (n.-6+32A>G)
dbSNP
Xg.120627224T=CA2454931046C1GALT1C1c.-5-53A= (n.-5-53A=)
c.-6+32A= (n.-6+32A=)
Xg.120627226A>CCA2823267514C1GALT1C1c.-5-55T>G (n.-5-55T>G)
c.-6+30T>G (n.-6+30T>G)
Xg.120627227A>CCA2823267515C1GALT1C1c.-5-56T>G (n.-5-56T>G)
c.-6+29T>G (n.-6+29T>G)
Xg.120627232_120627236delCA2694604460C1GALT1C1c.-5-60_-5-56del (n.-5-60_-5-56del)
c.-6+25_-6+29del (n.-6+25_-6+29del)
gnomAD v4
Xg.120627230T>GCA870757676C1GALT1C1c.-5-59A>C (n.-5-59A>C)
c.-6+26A>C (n.-6+26A>C)
dbSNP gnomAD v3 gnomAD v4
Xg.120627230T=CA2454931048C1GALT1C1c.-5-59A= (n.-5-59A=)
c.-6+26A= (n.-6+26A=)
Xg.120627231G>TCA2694604461C1GALT1C1c.-5-60C>A (n.-5-60C>A)
c.-6+25C>A (n.-6+25C>A)
gnomAD v4
Xg.120627232A>TCA2694604462C1GALT1C1c.-5-61T>A (n.-5-61T>A)
c.-6+24T>A (n.-6+24T>A)
gnomAD v4
Xg.120627235delCA2694604463C1GALT1C1c.-5-62del (n.-5-62del)
c.-6+23del (n.-6+23del)
gnomAD v4
Xg.120627235T>ACA2579693216C1GALT1C1c.-5-64A>T (n.-5-64A>T)
c.-6+21A>T (n.-6+21A>T)
Xg.120627235T>CCA2579693217C1GALT1C1c.-5-64A>G (n.-5-64A>G)
c.-6+21A>G (n.-6+21A>G)
Xg.120627236G>TCA2694604464C1GALT1C1c.-5-65C>A (n.-5-65C>A)
c.-6+20C>A (n.-6+20C>A)
gnomAD v4
Xg.120627237G>CCA2694604465C1GALT1C1c.-5-66C>G (n.-5-66C>G)
c.-6+19C>G (n.-6+19C>G)
gnomAD v4
Xg.120627237G>TCA2694604466C1GALT1C1c.-5-66C>A (n.-5-66C>A)
c.-6+19C>A (n.-6+19C>A)
gnomAD v4
Xg.120627238T>CCA2694604467C1GALT1C1c.-5-67A>G (n.-5-67A>G)
c.-6+18A>G (n.-6+18A>G)
gnomAD v4
Xg.120627241T>ACA644085486C1GALT1C1c.-5-70A>T (n.-5-70A>T)
c.-6+15A>T (n.-6+15A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.120627241T=CA2454931049C1GALT1C1c.-5-70A= (n.-5-70A=)
c.-6+15A= (n.-6+15A=)
Xg.120627242C>ACA2694604468C1GALT1C1c.-5-71G>T (n.-5-71G>T)
c.-6+14G>T (n.-6+14G>T)
gnomAD v4
Xg.120627243C>ACA2694604469C1GALT1C1c.-5-72G>T (n.-5-72G>T)
c.-6+13G>T (n.-6+13G>T)
gnomAD v4
Xg.120627243_120627244insACA2823267516C1GALT1C1c.-5-73_-5-72insT (n.-5-73_-5-72insT)
c.-6+12_-6+13insT (n.-6+12_-6+13insT)
Xg.120627244T>CCA2694604470C1GALT1C1c.-5-73A>G (n.-5-73A>G)
c.-6+12A>G (n.-6+12A>G)
gnomAD v4
Xg.120627244_120627248delinsTTATACA2454931050C1GALT1C1c.-5-77_-5-73delinsTATAA (n.-5-77_-5-73delinsTATAA)
c.-6+8_-6+12delinsTATAA (n.-6+8_-6+12delinsTATAA)
Xg.120627249_120627250delCA2823267517C1GALT1C1c.-5-75_-5-74del (n.-5-75_-5-74del)
c.-6+10_-6+11del (n.-6+10_-6+11del)
Xg.120627247_120627250delCA2454931051C1GALT1C1c.-5-77_-5-74del (n.-5-77_-5-74del)
c.-6+8_-6+11del (n.-6+8_-6+11del)
dbSNP
Xg.120627247T>ACA2579693218C1GALT1C1c.-5-76A>T (n.-5-76A>T)
c.-6+9A>T (n.-6+9A>T)
Xg.120627249delCA2823267518C1GALT1C1c.-5-78del (n.-5-78del)
c.-6+7del (n.-6+7del)
Xg.120627249T>CCA870757678C1GALT1C1c.-5-78A>G (n.-5-78A>G)
c.-6+7A>G (n.-6+7A>G)
dbSNP gnomAD v3 gnomAD v4
Xg.120627249T=CA2454931052C1GALT1C1c.-5-78A= (n.-5-78A=)
c.-6+7A= (n.-6+7A=)

Number of alleles fetched