Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.44624174C=CA2365856518ADAc.606+28G= (p.=)
c.*198C= (p.=)
n.280+28G=
n.690+28G=
c.219-1096G= (p.=)
c.201+28G= (p.=)
n.660+28G=
n.757+28G=
n.698+28G=
20g.44624174C>TCA636174165ADAc.606+28G>A (p.=)
c.*198C>T (p.=)
n.280+28G>A
n.690+28G>A
c.219-1096G>A (p.=)
c.201+28G>A (p.=)
n.660+28G>A
n.757+28G>A
n.698+28G>A
gnomAD
20g.44624175C>ACA744679975ADAc.606+27G>T (p.=)
c.*199C>A (p.=)
n.280+27G>T
n.690+27G>T
c.219-1097G>T (p.=)
c.201+27G>T (p.=)
n.660+27G>T
n.757+27G>T
n.698+27G>T
20g.44624175C=CA2365856519ADAc.606+27G= (p.=)
c.*199C= (p.=)
n.280+27G=
n.690+27G=
c.219-1097G= (p.=)
c.201+27G= (p.=)
n.660+27G=
n.757+27G=
n.698+27G=
20g.44624179C=CA2365856520ADAc.606+23G= (p.=)
c.*203C= (p.=)
n.280+23G=
n.690+23G=
c.219-1101G= (p.=)
c.201+23G= (p.=)
n.660+23G=
n.757+23G=
n.698+23G=
20g.44624179C>TCA9871616ADAc.606+23G>A (p.=)
c.*203C>T (p.=)
n.280+23G>A
n.690+23G>A
c.219-1101G>A (p.=)
c.201+23G>A (p.=)
n.660+23G>A
n.757+23G>A
n.698+23G>A
dbSNP ExAC gnomAD
20g.44624180C=CA2365856521ADAc.606+22G= (p.=)
c.*204C= (p.=)
n.280+22G=
n.690+22G=
c.219-1102G= (p.=)
c.201+22G= (p.=)
n.660+22G=
n.757+22G=
n.698+22G=
20g.44624180C>TCA1017791586ADAc.606+22G>A (p.=)
c.*204C>T (p.=)
n.280+22G>A
n.690+22G>A
c.219-1102G>A (p.=)
c.201+22G>A (p.=)
n.660+22G>A
n.757+22G>A
n.698+22G>A
20g.44624181A=CA2365856522ADAc.606+21T= (p.=)
c.*205A= (p.=)
n.280+21T=
n.690+21T=
c.219-1103T= (p.=)
c.201+21T= (p.=)
n.660+21T=
n.757+21T=
n.698+21T=
20g.44624181A>CCA2365856523ADAc.606+21T>G (p.=)
c.*205A>C (p.=)
n.280+21T>G
n.690+21T>G
c.219-1103T>G (p.=)
c.201+21T>G (p.=)
n.660+21T>G
n.757+21T>G
n.698+21T>G
20g.44624184C=CA2365856525ADAc.606+18G= (p.=)
c.*208C= (p.=)
n.280+18G=
n.690+18G=
c.219-1106G= (p.=)
c.201+18G= (p.=)
n.660+18G=
n.757+18G=
n.698+18G=
20g.44624184C>TCA9871618ADAc.606+18G>A (p.=)
c.*208C>T (p.=)
n.280+18G>A
n.690+18G>A
c.219-1106G>A (p.=)
c.201+18G>A (p.=)
n.660+18G>A
n.757+18G>A
n.698+18G>A
dbSNP ExAC gnomAD
20g.44624184_44624187delinsCCTTCA2365856524ADAc.606+15_606+18delinsAAGG (p.=)
c.*208_*211delinsCCTT (p.=)
n.280+15_280+18delinsAAGG
n.690+15_690+18delinsAAGG
c.219-1109_219-1106delinsAAGG (p.=)
c.201+15_201+18delinsAAGG (p.=)
n.660+15_660+18delinsAAGG
n.757+15_757+18delinsAAGG
n.698+15_698+18delinsAAGG
20g.44624185C=CA2365856526ADAc.606+17G= (p.=)
c.*209C= (p.=)
n.280+17G=
n.690+17G=
c.219-1107G= (p.=)
c.201+17G= (p.=)
n.660+17G=
n.757+17G=
n.698+17G=
20g.44624185C>TCA744679981ADAc.606+17G>A (p.=)
c.*209C>T (p.=)
n.280+17G>A
n.690+17G>A
c.219-1107G>A (p.=)
c.201+17G>A (p.=)
n.660+17G>A
n.757+17G>A
n.698+17G>A
20g.44624187_44624189delCA9871617ADAc.606+15_606+17del (p.=)
c.*211_*213del (p.=)
n.280+15_280+17del
n.690+15_690+17del
c.219-1109_219-1107del (p.=)
c.201+15_201+17del (p.=)
n.660+15_660+17del
n.757+15_757+17del
n.698+15_698+17del
dbSNP ExAC gnomAD
20g.44624191A=CA2365856527ADAc.606+11T= (p.=)
c.*215A= (p.=)
n.280+11T=
n.690+11T=
c.219-1113T= (p.=)
c.201+11T= (p.=)
n.660+11T=
n.757+11T=
n.698+11T=
20g.44624191A>GCA636174166ADAc.606+11T>C (p.=)
c.*215A>G (p.=)
n.280+11T>C
n.690+11T>C
c.219-1113T>C (p.=)
c.201+11T>C (p.=)
n.660+11T>C
n.757+11T>C
n.698+11T>C
gnomAD
20g.44624192C>ACA2499225765ADAc.606+10G>T (p.=)
c.*216C>A (p.=)
n.280+10G>T
n.690+10G>T
c.219-1114G>T (p.=)
c.201+10G>T (p.=)
n.660+10G>T
n.757+10G>T
n.698+10G>T
ClinVar
20g.44624192C=CA2365856528ADAc.606+10G= (p.=)
c.*216C= (p.=)
n.280+10G=
n.690+10G=
c.219-1114G= (p.=)
c.201+10G= (p.=)
n.660+10G=
n.757+10G=
n.698+10G=
20g.44624192C>TCA9871619ADAc.606+10G>A (p.=)
c.*216C>T (p.=)
n.280+10G>A
n.690+10G>A
c.219-1114G>A (p.=)
c.201+10G>A (p.=)
n.660+10G>A
n.757+10G>A
n.698+10G>A
ClinVar dbSNP ExAC gnomAD
20g.44624193A=CA2365856529ADAc.606+9T= (p.=)
c.*217A= (p.=)
n.280+9T=
n.690+9T=
c.219-1115T= (p.=)
c.201+9T= (p.=)
n.660+9T=
n.757+9T=
n.698+9T=
20g.44624193A>GCA1017791595ADAc.606+9T>C (p.=)
c.*217A>G (p.=)
n.280+9T>C
n.690+9T>C
c.219-1115T>C (p.=)
c.201+9T>C (p.=)
n.660+9T>C
n.757+9T>C
n.698+9T>C
ClinVar
20g.44624200A>CCA409120726ADAc.606+2T>G (p.=)
c.*224A>C (p.=)
n.280+2T>G
n.690+2T>G
c.219-1122T>G (p.=)
c.201+2T>G (p.=)
n.660+2T>G
n.757+2T>G
n.698+2T>G
20g.44624200A>GCA409120728ADAc.606+2T>C (p.=)
c.*224A>G (p.=)
n.280+2T>C
n.690+2T>C
c.219-1122T>C (p.=)
c.201+2T>C (p.=)
n.660+2T>C
n.757+2T>C
n.698+2T>C
20g.44624200A>TCA409120727ADAc.606+2T>A (p.=)
c.*224A>T (p.=)
n.280+2T>A
n.690+2T>A
c.219-1122T>A (p.=)
c.201+2T>A (p.=)
n.660+2T>A
n.757+2T>A
n.698+2T>A
20g.44624201C>ACA409120729ADAc.606+1G>T (p.=)
c.*225C>A (p.=)
n.280+1G>T
n.690+1G>T
c.219-1123G>T (p.=)
c.201+1G>T (p.=)
n.660+1G>T
n.757+1G>T
n.698+1G>T
gnomAD
20g.44624201C=CA2365856530ADAc.606+1G= (p.=)
c.*225C= (p.=)
n.280+1G=
n.690+1G=
c.219-1123G= (p.=)
c.201+1G= (p.=)
n.660+1G=
n.757+1G=
n.698+1G=
20g.44624201C>GCA9871620ADAc.606+1G>C (p.=)
c.*225C>G (p.=)
n.280+1G>C
n.690+1G>C
c.219-1123G>C (p.=)
c.201+1G>C (p.=)
n.660+1G>C
n.757+1G>C
n.698+1G>C
dbSNP ExAC gnomAD
20g.44624201C>TCA409120730ADAc.606+1G>A (p.=)
c.*225C>T (p.=)
n.280+1G>A
n.690+1G>A
c.219-1123G>A (p.=)
c.201+1G>A (p.=)
n.660+1G>A
n.757+1G>A
n.698+1G>A
20g.44624202C>ACA409120731ADAc.606G>T (p.Gln202His)
c.*226C>A (p.=)
n.280G>T
n.690G>T
c.219-1124G>T (p.=)
c.201G>T (p.Gln67His)
n.660G>T
n.757G>T
n.698G>T
20g.44624202C>GCA409120732ADAc.606G>C (p.Gln202His)
c.*226C>G (p.=)
n.280G>C
n.690G>C
c.219-1124G>C (p.=)
c.201G>C (p.Gln67His)
n.660G>C
n.757G>C
n.698G>C
20g.44624202C>TCA510593616ADAc.606G>A (p.Gln202=)
c.*226C>T (p.=)
n.280G>A
n.690G>A
c.219-1124G>A (p.=)
c.201G>A (p.Gln67=)
n.660G>A
n.757G>A
n.698G>A
20g.44624203T>ACA409120733ADAc.605A>T (p.Gln202Leu)
c.*227T>A (p.=)
n.279A>T
n.689A>T
c.219-1125A>T (p.=)
c.200A>T (p.Gln67Leu)
n.659A>T
n.756A>T
n.697A>T
20g.44624203T>CCA409120734ADAc.605A>G (p.Gln202Arg)
c.*227T>C (p.=)
n.279A>G
n.689A>G
c.219-1125A>G (p.=)
c.200A>G (p.Gln67Arg)
n.659A>G
n.756A>G
n.697A>G
20g.44624203T>GCA409120735ADAc.605A>C (p.Gln202Pro)
c.*227T>G (p.=)
n.279A>C
n.689A>C
c.219-1125A>C (p.=)
c.200A>C (p.Gln67Pro)
n.659A>C
n.756A>C
n.697A>C
20g.44624204G>ACA409120736ADAc.604C>T (p.Gln202Ter)
c.*228G>A (p.=)
n.278C>T
n.688C>T
c.219-1126C>T (p.=)
c.199C>T (p.Gln67Ter)
n.658C>T
n.755C>T
n.696C>T
20g.44624204G>CCA409120737ADAc.604C>G (p.Gln202Glu)
c.*228G>C (p.=)
n.278C>G
n.688C>G
c.219-1126C>G (p.=)
c.199C>G (p.Gln67Glu)
n.658C>G
n.755C>G
n.696C>G
20g.44624204G=CA2365856531ADAc.604C= (p.Gln202=)
c.*228G= (p.=)
n.278C=
n.688C=
c.219-1126C= (p.=)
c.199C= (p.Gln67=)
n.658C=
n.755C=
n.696C=
20g.44624204G>TCA409120738ADAc.604C>A (p.Gln202Lys)
c.*228G>T (p.=)
n.278C>A
n.688C>A
c.219-1126C>A (p.=)
c.199C>A (p.Gln67Lys)
n.658C>A
n.755C>A
n.696C>A
20g.44624205G>ACA510593621ADAc.603C>T (p.Tyr201=)
c.*229G>A (p.=)
n.277C>T
n.687C>T
c.219-1127C>T (p.=)
c.198C>T (p.Tyr66=)
n.657C>T
n.754C>T
n.695C>T
20g.44624205G>CCA409120740ADAc.603C>G (p.Tyr201Ter)
c.*229G>C (p.=)
n.277C>G
n.687C>G
c.219-1127C>G (p.=)
c.198C>G (p.Tyr66Ter)
n.657C>G
n.754C>G
n.695C>G
ClinVar
20g.44624205G=CA2365856532ADAc.603C= (p.Tyr201=)
c.*229G= (p.=)
n.277C=
n.687C=
c.219-1127C= (p.=)
c.198C= (p.Tyr66=)
n.657C=
n.754C=
n.695C=
20g.44624205G>TCA409120739ADAc.603C>A (p.Tyr201Ter)
c.*229G>T (p.=)
n.277C>A
n.687C>A
c.219-1127C>A (p.=)
c.198C>A (p.Tyr66Ter)
n.657C>A
n.754C>A
n.695C>A
20g.44624206T>ACA409120741ADAc.602A>T (p.Tyr201Phe)
c.*230T>A (p.=)
n.276A>T
n.686A>T
c.219-1128A>T (p.=)
c.197A>T (p.Tyr66Phe)
n.656A>T
n.753A>T
n.694A>T
20g.44624206T>CCA409120742ADAc.602A>G (p.Tyr201Cys)
c.*230T>C (p.=)
n.276A>G
n.686A>G
c.219-1128A>G (p.=)
c.197A>G (p.Tyr66Cys)
n.656A>G
n.753A>G
n.694A>G
20g.44624206T>GCA409120743ADAc.602A>C (p.Tyr201Ser)
c.*230T>G (p.=)
n.276A>C
n.686A>C
c.219-1128A>C (p.=)
c.197A>C (p.Tyr66Ser)
n.656A>C
n.753A>C
n.694A>C
20g.44624207A>CCA409120744ADAc.601T>G (p.Tyr201Asp)
c.*231A>C (p.=)
n.275T>G
n.685T>G
c.219-1129T>G (p.=)
c.196T>G (p.Tyr66Asp)
n.655T>G
n.752T>G
n.693T>G
20g.44624207A>GCA409120745ADAc.601T>C (p.Tyr201His)
c.*231A>G (p.=)
n.275T>C
n.685T>C
c.219-1129T>C (p.=)
c.196T>C (p.Tyr66His)
n.655T>C
n.752T>C
n.693T>C
20g.44624207A>TCA409120746ADAc.601T>A (p.Tyr201Asn)
c.*231A>T (p.=)
n.275T>A
n.685T>A
c.219-1129T>A (p.=)
c.196T>A (p.Tyr66Asn)
n.655T>A
n.752T>A
n.693T>A

Number of alleles fetched