Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.80026677T>CCA2694191636TBX22c.634-27T>C (n.634-27T>C)
c.*246-27T>C (n.*246-27T>C)
n.513-27T>C
c.274-27T>C (n.274-27T>C)
c.637-27T>C (n.637-27T>C)
 gnomAD v4
Xg.80026678A>GCA2694191637TBX22c.634-26A>G (n.634-26A>G)
c.*246-26A>G (n.*246-26A>G)
n.513-26A>G
c.274-26A>G (n.274-26A>G)
c.637-26A>G (n.637-26A>G)
 gnomAD v4
Xg.80026680C=CA2439980728TBX22c.634-24C= (n.634-24C=)
c.*246-24C= (n.*246-24C=)
n.513-24C=
c.274-24C= (n.274-24C=)
c.637-24C= (n.637-24C=)
Xg.80026680C>GCA643006894TBX22c.634-24C>G (n.634-24C>G)
c.*246-24C>G (n.*246-24C>G)
n.513-24C>G
c.274-24C>G (n.274-24C>G)
c.637-24C>G (n.637-24C>G)
 dbSNP gnomAD v2
Xg.80026680C>TCA878635453TBX22c.634-24C>T (n.634-24C>T)
c.*246-24C>T (n.*246-24C>T)
n.513-24C>T
c.274-24C>T (n.274-24C>T)
c.637-24C>T (n.637-24C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.80026682G>ACA2439980730TBX22c.634-22G>A (n.634-22G>A)
c.*246-22G>A (n.*246-22G>A)
n.513-22G>A
c.274-22G>A (n.274-22G>A)
c.637-22G>A (n.637-22G>A)
 dbSNP
Xg.80026682G=CA2439980729TBX22c.634-22G= (n.634-22G=)
c.*246-22G= (n.*246-22G=)
n.513-22G=
c.274-22G= (n.274-22G=)
c.637-22G= (n.637-22G=)
Xg.80026683C=CA2439980731TBX22c.634-21C= (n.634-21C=)
c.*246-21C= (n.*246-21C=)
n.513-21C=
c.274-21C= (n.274-21C=)
c.637-21C= (n.637-21C=)
Xg.80026683C>TCA643006895TBX22c.634-21C>T (n.634-21C>T)
c.*246-21C>T (n.*246-21C>T)
n.513-21C>T
c.274-21C>T (n.274-21C>T)
c.637-21C>T (n.637-21C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.80026684A=CA2439980732TBX22c.634-20A= (n.634-20A=)
c.*246-20A= (n.*246-20A=)
n.513-20A=
c.274-20A= (n.274-20A=)
c.637-20A= (n.637-20A=)
Xg.80026684A>GCA643006896TBX22c.634-20A>G (n.634-20A>G)
c.*246-20A>G (n.*246-20A>G)
n.513-20A>G
c.274-20A>G (n.274-20A>G)
c.637-20A>G (n.637-20A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.80026688A>GCA2694191638TBX22c.634-16A>G (n.634-16A>G)
c.*246-16A>G (n.*246-16A>G)
n.513-16A>G
c.274-16A>G (n.274-16A>G)
c.637-16A>G (n.637-16A>G)
 gnomAD v4
Xg.80026689T>CCA643006897TBX22c.634-15T>C (n.634-15T>C)
c.*246-15T>C (n.*246-15T>C)
n.513-15T>C
c.274-15T>C (n.274-15T>C)
c.637-15T>C (n.637-15T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.80026689T=CA2439980733TBX22c.634-15T= (n.634-15T=)
c.*246-15T= (n.*246-15T=)
n.513-15T=
c.274-15T= (n.274-15T=)
c.637-15T= (n.637-15T=)
Xg.80026690C>TCA2694191639TBX22c.634-14C>T (n.634-14C>T)
c.*246-14C>T (n.*246-14C>T)
n.513-14C>T
c.274-14C>T (n.274-14C>T)
c.637-14C>T (n.637-14C>T)
 gnomAD v4
Xg.80026695C>ACA878635465TBX22c.634-9C>A (n.634-9C>A)
c.*246-9C>A (n.*246-9C>A)
n.513-9C>A
c.274-9C>A (n.274-9C>A)
c.637-9C>A (n.637-9C>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.80026695C=CA2439980734TBX22c.634-9C= (n.634-9C=)
c.*246-9C= (n.*246-9C=)
n.513-9C=
c.274-9C= (n.274-9C=)
c.637-9C= (n.637-9C=)
Xg.80026695C>TCA10461276TBX22c.634-9C>T (n.634-9C>T)
c.*246-9C>T (n.*246-9C>T)
n.513-9C>T
c.274-9C>T (n.274-9C>T)
c.637-9C>T (n.637-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026696_80026697delinsTCCA2439980735TBX22c.634-8_634-7delinsTC (n.634-8_634-7delinsTC)
c.*246-8_*246-7delinsTC (n.*246-8_*246-7delinsTC)
n.513-8_513-7delinsTC
c.274-8_274-7delinsTC (n.274-8_274-7delinsTC)
c.637-8_637-7delinsTC (n.637-8_637-7delinsTC)
Xg.80026698delCA10461277TBX22c.634-6del (n.634-6del)
c.*246-6del (n.*246-6del)
n.513-6del
c.274-6del (n.274-6del)
c.637-6del (n.637-6del)
 dbSNP ExAC gnomAD v2
Xg.80026701C>ACA2541535898TBX22c.634-3C>A (n.634-3C>A)
c.*246-3C>A (n.*246-3C>A)
n.513-3C>A
c.274-3C>A (n.274-3C>A)
c.637-3C>A (n.637-3C>A)
Xg.80026701C>TCA645611384TBX22c.634-3C>T (n.634-3C>T)
c.*246-3C>T (n.*246-3C>T)
n.513-3C>T
c.274-3C>T (n.274-3C>T)
c.637-3C>T (n.637-3C>T)
 COSMIC
Xg.80026702A>CCA413740603TBX22c.634-2A>C (n.634-2A>C)
c.*246-2A>C (n.*246-2A>C)
n.513-2A>C
c.274-2A>C (n.274-2A>C)
c.637-2A>C (n.637-2A>C)
Xg.80026702A>GCA413740604TBX22c.634-2A>G (n.634-2A>G)
c.*246-2A>G (n.*246-2A>G)
n.513-2A>G
c.274-2A>G (n.274-2A>G)
c.637-2A>G (n.637-2A>G)
Xg.80026702A>TCA413740605TBX22c.634-2A>T (n.634-2A>T)
c.*246-2A>T (n.*246-2A>T)
n.513-2A>T
c.274-2A>T (n.274-2A>T)
c.637-2A>T (n.637-2A>T)
Xg.80026703G>ACA413740606TBX22c.634-1G>A (n.634-1G>A)
c.*246-1G>A (n.*246-1G>A)
n.513-1G>A
c.274-1G>A (n.274-1G>A)
c.637-1G>A (n.637-1G>A)
Xg.80026703G>CCA413740607TBX22c.634-1G>C (n.634-1G>C)
c.*246-1G>C (n.*246-1G>C)
n.513-1G>C
c.274-1G>C (n.274-1G>C)
c.637-1G>C (n.637-1G>C)
Xg.80026703G>TCA413740608TBX22c.634-1G>T (n.634-1G>T)
c.*246-1G>T (n.*246-1G>T)
n.513-1G>T
c.274-1G>T (n.274-1G>T)
c.637-1G>T (n.637-1G>T)
Xg.80026704A>CCA413740609TBX22c.634A>C (p.Ile212Leu)
c.*246A>C (n.*246A>C)
n.513A>C
c.274A>C (p.Ile92Leu)
c.637A>C (p.Ile213Leu)
Xg.80026704A>GCA413740610TBX22c.634A>G (p.Ile212Val)
c.*246A>G (n.*246A>G)
n.513A>G
c.274A>G (p.Ile92Val)
c.637A>G (p.Ile213Val)
Xg.80026704A>TCA413740611TBX22c.634A>T (p.Ile212Phe)
c.*246A>T (n.*246A>T)
n.513A>T
c.274A>T (p.Ile92Phe)
c.637A>T (p.Ile213Phe)
Xg.80026705T>ACA413740613TBX22c.635T>A (p.Ile212Asn)
c.*247T>A (n.*247T>A)
n.514T>A
c.275T>A (p.Ile92Asn)
c.638T>A (p.Ile213Asn)
Xg.80026705T>CCA413740614TBX22c.635T>C (p.Ile212Thr)
c.*247T>C (n.*247T>C)
n.514T>C
c.275T>C (p.Ile92Thr)
c.638T>C (p.Ile213Thr)
Xg.80026705T>GCA413740612TBX22c.635T>G (p.Ile212Ser)
c.*247T>G (n.*247T>G)
n.514T>G
c.275T>G (p.Ile92Ser)
c.638T>G (p.Ile213Ser)
Xg.80026706C>ACA517403001TBX22c.636C>A (p.Ile212=)
c.*248C>A (n.*248C>A)
n.515C>A
c.276C>A (p.Ile92=)
c.639C>A (p.Ile213=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026706C=CA2439980736TBX22c.636C= (p.Ile212=)
c.*248C= (n.*248C=)
n.515C=
c.276C= (p.Ile92=)
c.639C= (p.Ile213=)
Xg.80026706C>GCA413740615TBX22c.636C>G (p.Ile212Met)
c.*248C>G (n.*248C>G)
n.515C>G
c.276C>G (p.Ile92Met)
c.639C>G (p.Ile213Met)
Xg.80026706C>TCA517403002TBX22c.636C>T (p.Ile212=)
c.*248C>T (n.*248C>T)
n.515C>T
c.276C>T (p.Ile92=)
c.639C>T (p.Ile213=)
 COSMIC
Xg.80026707A>CCA413740616TBX22c.637A>C (p.Ile213Leu)
c.*249A>C (n.*249A>C)
n.516A>C
c.277A>C (p.Ile93Leu)
c.640A>C (p.Ile214Leu)
Xg.80026707A>GCA413740617TBX22c.637A>G (p.Ile213Val)
c.*249A>G (n.*249A>G)
n.516A>G
c.277A>G (p.Ile93Val)
c.640A>G (p.Ile214Val)
Xg.80026707A>TCA413740618TBX22c.637A>T (p.Ile213Phe)
c.*249A>T (n.*249A>T)
n.516A>T
c.277A>T (p.Ile93Phe)
c.640A>T (p.Ile214Phe)
Xg.80026708T>ACA413740621TBX22c.638T>A (p.Ile213Asn)
c.*250T>A (n.*250T>A)
n.517T>A
c.278T>A (p.Ile93Asn)
c.641T>A (p.Ile214Asn)
Xg.80026708T>CCA413740620TBX22c.638T>C (p.Ile213Thr)
c.*250T>C (n.*250T>C)
n.517T>C
c.278T>C (p.Ile93Thr)
c.641T>C (p.Ile214Thr)
Xg.80026708T>GCA413740619TBX22c.638T>G (p.Ile213Ser)
c.*250T>G (n.*250T>G)
n.517T>G
c.278T>G (p.Ile93Ser)
c.641T>G (p.Ile214Ser)
Xg.80026709T>ACA517403004TBX22c.639T>A (p.Ile213=)
c.*251T>A (n.*251T>A)
n.518T>A
c.279T>A (p.Ile93=)
c.642T>A (p.Ile214=)
Xg.80026709T>CCA517403003TBX22c.639T>C (p.Ile213=)
c.*251T>C (n.*251T>C)
n.518T>C
c.279T>C (p.Ile93=)
c.642T>C (p.Ile214=)
Xg.80026709T>GCA413740622TBX22c.639T>G (p.Ile213Met)
c.*251T>G (n.*251T>G)
n.518T>G
c.279T>G (p.Ile93Met)
c.642T>G (p.Ile214Met)
Xg.80026710C>ACA413740623TBX22c.640C>A (p.Leu214Met)
c.*252C>A (n.*252C>A)
n.519C>A
c.280C>A (p.Leu94Met)
c.643C>A (p.Leu215Met)
Xg.80026710C>GCA413740624TBX22c.640C>G (p.Leu214Val)
c.*252C>G (n.*252C>G)
n.519C>G
c.280C>G (p.Leu94Val)
c.643C>G (p.Leu215Val)
Xg.80026710C>TCA517403005TBX22c.640C>T (p.Leu214=)
c.*252C>T (n.*252C>T)
n.519C>T
c.280C>T (p.Leu94=)
c.643C>T (p.Leu215=)
Xg.80026710_80026711delinsGACA645611385TBX22c.640_641delinsGA (p.Leu214Glu)
c.*252_*253delinsGA (n.*252_*253delinsGA)
n.519_520delinsGA
c.280_281delinsGA (p.Leu94Glu)
c.643_644delinsGA (p.Leu215Glu)
 COSMIC
Xg.80026711T>ACA413740625TBX22c.641T>A (p.Leu214Gln)
c.*253T>A (n.*253T>A)
n.520T>A
c.281T>A (p.Leu94Gln)
c.644T>A (p.Leu215Gln)
Xg.80026711T>CCA121427TBX22c.641T>C (p.Leu214Pro)
c.*253T>C (n.*253T>C)
n.520T>C
c.281T>C (p.Leu94Pro)
c.644T>C (p.Leu215Pro)
 ClinVar dbSNP
Xg.80026711T>GCA413740626TBX22c.641T>G (p.Leu214Arg)
c.*253T>G (n.*253T>G)
n.520T>G
c.281T>G (p.Leu94Arg)
c.644T>G (p.Leu215Arg)
Xg.80026711T=CA2439980737TBX22c.641T= (p.Leu214=)
c.*253T= (n.*253T=)
n.520T=
c.281T= (p.Leu94=)
c.644T= (p.Leu215=)
Xg.80026712G>ACA517403006TBX22c.642G>A (p.Leu214=)
c.*254G>A (n.*254G>A)
n.521G>A
c.282G>A (p.Leu94=)
c.645G>A (p.Leu215=)
Xg.80026712G>CCA517403007TBX22c.642G>C (p.Leu214=)
c.*254G>C (n.*254G>C)
n.521G>C
c.282G>C (p.Leu94=)
c.645G>C (p.Leu215=)
 dbSNP
Xg.80026712G>TCA517403008TBX22c.642G>T (p.Leu214=)
c.*254G>T (n.*254G>T)
n.521G>T
c.282G>T (p.Leu94=)
c.645G>T (p.Leu215=)
 gnomAD v4 COSMIC
Xg.80026713C>ACA413740629TBX22c.643C>A (p.Gln215Lys)
c.*255C>A (n.*255C>A)
n.522C>A
c.283C>A (p.Gln95Lys)
c.646C>A (p.Gln216Lys)
 dbSNP
Xg.80026713C>GCA413740627TBX22c.643C>G (p.Gln215Glu)
c.*255C>G (n.*255C>G)
n.522C>G
c.283C>G (p.Gln95Glu)
c.646C>G (p.Gln216Glu)
Xg.80026713C>TCA413740628TBX22c.643C>T (p.Gln215Ter)
c.*255C>T (n.*255C>T)
n.522C>T
c.283C>T (p.Gln95Ter)
c.646C>T (p.Gln216Ter)
Xg.80026714A>CCA413740630TBX22c.644A>C (p.Gln215Pro)
c.*256A>C (n.*256A>C)
n.523A>C
c.284A>C (p.Gln95Pro)
c.647A>C (p.Gln216Pro)
Xg.80026714A>GCA413740631TBX22c.644A>G (p.Gln215Arg)
c.*256A>G (n.*256A>G)
n.523A>G
c.284A>G (p.Gln95Arg)
c.647A>G (p.Gln216Arg)
Xg.80026714A>TCA413740632TBX22c.644A>T (p.Gln215Leu)
c.*256A>T (n.*256A>T)
n.523A>T
c.284A>T (p.Gln95Leu)
c.647A>T (p.Gln216Leu)
Xg.80026715A=CA2439980738TBX22c.645A= (p.Gln215=)
c.*257A= (n.*257A=)
n.524A=
c.285A= (p.Gln95=)
c.648A= (p.Gln216=)
Xg.80026715A>CCA413740633TBX22c.645A>C (p.Gln215His)
c.*257A>C (n.*257A>C)
n.524A>C
c.285A>C (p.Gln95His)
c.648A>C (p.Gln216His)
Xg.80026715A>GCA517403009TBX22c.645A>G (p.Gln215=)
c.*257A>G (n.*257A>G)
n.524A>G
c.285A>G (p.Gln95=)
c.648A>G (p.Gln216=)
 dbSNP gnomAD v2
Xg.80026715A>TCA10461278TBX22c.645A>T (p.Gln215His)
c.*257A>T (n.*257A>T)
n.524A>T
c.285A>T (p.Gln95His)
c.648A>T (p.Gln216His)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026716T>ACA413740634TBX22c.646T>A (p.Ser216Thr)
c.*258T>A (n.*258T>A)
n.525T>A
c.286T>A (p.Ser96Thr)
c.649T>A (p.Ser217Thr)
Xg.80026716T>CCA413740635TBX22c.646T>C (p.Ser216Pro)
c.*258T>C (n.*258T>C)
n.525T>C
c.286T>C (p.Ser96Pro)
c.649T>C (p.Ser217Pro)
Xg.80026716T>GCA413740636TBX22c.646T>G (p.Ser216Ala)
c.*258T>G (n.*258T>G)
n.525T>G
c.286T>G (p.Ser96Ala)
c.649T>G (p.Ser217Ala)
Xg.80026717C>ACA413740637TBX22c.647C>A (p.Ser216Tyr)
c.*259C>A (n.*259C>A)
n.526C>A
c.287C>A (p.Ser96Tyr)
c.650C>A (p.Ser217Tyr)
 dbSNP
Xg.80026717C>GCA413740638TBX22c.647C>G (p.Ser216Cys)
c.*259C>G (n.*259C>G)
n.526C>G
c.287C>G (p.Ser96Cys)
c.650C>G (p.Ser217Cys)
Xg.80026717C>TCA413740639TBX22c.647C>T (p.Ser216Phe)
c.*259C>T (n.*259C>T)
n.526C>T
c.287C>T (p.Ser96Phe)
c.650C>T (p.Ser217Phe)
Xg.80026718C>ACA517403010TBX22c.648C>A (p.Ser216=)
c.*260C>A (n.*260C>A)
n.527C>A
c.288C>A (p.Ser96=)
c.651C>A (p.Ser217=)
 COSMIC
Xg.80026718C=CA2439980739TBX22c.648C= (p.Ser216=)
c.*260C= (n.*260C=)
n.527C=
c.288C= (p.Ser96=)
c.651C= (p.Ser217=)
Xg.80026718C>GCA517403011TBX22c.648C>G (p.Ser216=)
c.*260C>G (n.*260C>G)
n.527C>G
c.288C>G (p.Ser96=)
c.651C>G (p.Ser217=)
Xg.80026718C>TCA331778188TBX22c.648C>T (p.Ser216=)
c.*260C>T (n.*260C>T)
n.527C>T
c.288C>T (p.Ser96=)
c.651C>T (p.Ser217=)
 dbSNP
Xg.80026719A>CCA413740640TBX22c.649A>C (p.Met217Leu)
c.*261A>C (n.*261A>C)
n.528A>C
c.289A>C (p.Met97Leu)
c.652A>C (p.Met218Leu)
Xg.80026719A>GCA413740641TBX22c.649A>G (p.Met217Val)
c.*261A>G (n.*261A>G)
n.528A>G
c.289A>G (p.Met97Val)
c.652A>G (p.Met218Val)
 COSMIC
Xg.80026719A>TCA413740642TBX22c.649A>T (p.Met217Leu)
c.*261A>T (n.*261A>T)
n.528A>T
c.289A>T (p.Met97Leu)
c.652A>T (p.Met218Leu)
Xg.80026720T>ACA413740645TBX22c.650T>A (p.Met217Lys)
c.*262T>A (n.*262T>A)
n.529T>A
c.290T>A (p.Met97Lys)
c.653T>A (p.Met218Lys)
Xg.80026720T>CCA413740644TBX22c.650T>C (p.Met217Thr)
c.*262T>C (n.*262T>C)
n.529T>C
c.290T>C (p.Met97Thr)
c.653T>C (p.Met218Thr)
 COSMIC
Xg.80026720T>GCA413740643TBX22c.650T>G (p.Met217Arg)
c.*262T>G (n.*262T>G)
n.529T>G
c.290T>G (p.Met97Arg)
c.653T>G (p.Met218Arg)
Xg.80026721G>ACA413740646TBX22c.651G>A (p.Met217Ile)
c.*263G>A (n.*263G>A)
n.530G>A
c.291G>A (p.Met97Ile)
c.654G>A (p.Met218Ile)
Xg.80026721G>CCA413740647TBX22c.651G>C (p.Met217Ile)
c.*263G>C (n.*263G>C)
n.530G>C
c.291G>C (p.Met97Ile)
c.654G>C (p.Met218Ile)
Xg.80026721G>TCA413740648TBX22c.651G>T (p.Met217Ile)
c.*263G>T (n.*263G>T)
n.530G>T
c.291G>T (p.Met97Ile)
c.654G>T (p.Met218Ile)
 COSMIC
Xg.80026722C>ACA10461279TBX22c.652C>A (p.His218Asn)
c.*264C>A (n.*264C>A)
n.531C>A
c.292C>A (p.His98Asn)
c.655C>A (p.His219Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026722C=CA2439980740TBX22c.652C= (p.His218=)
c.*264C= (n.*264C=)
n.531C=
c.292C= (p.His98=)
c.655C= (p.His219=)
Xg.80026722C>GCA413740649TBX22c.652C>G (p.His218Asp)
c.*264C>G (n.*264C>G)
n.531C>G
c.292C>G (p.His98Asp)
c.655C>G (p.His219Asp)
Xg.80026722C>TCA413740650TBX22c.652C>T (p.His218Tyr)
c.*264C>T (n.*264C>T)
n.531C>T
c.292C>T (p.His98Tyr)
c.655C>T (p.His219Tyr)
 gnomAD v4
Xg.80026723A>CCA413740651TBX22c.653A>C (p.His218Pro)
c.*265A>C (n.*265A>C)
n.532A>C
c.293A>C (p.His98Pro)
c.656A>C (p.His219Pro)
Xg.80026723A>GCA413740652TBX22c.653A>G (p.His218Arg)
c.*265A>G (n.*265A>G)
n.532A>G
c.293A>G (p.His98Arg)
c.656A>G (p.His219Arg)
 gnomAD v4
Xg.80026723A>TCA413740653TBX22c.653A>T (p.His218Leu)
c.*265A>T (n.*265A>T)
n.532A>T
c.293A>T (p.His98Leu)
c.656A>T (p.His219Leu)
Xg.80026724T>ACA413740654TBX22c.654T>A (p.His218Gln)
c.*266T>A (n.*266T>A)
n.533T>A
c.294T>A (p.His98Gln)
c.657T>A (p.His219Gln)
Xg.80026724T>CCA517403013TBX22c.654T>C (p.His218=)
c.*266T>C (n.*266T>C)
n.533T>C
c.294T>C (p.His98=)
c.657T>C (p.His219=)
 gnomAD v4
Xg.80026724T>GCA413740655TBX22c.654T>G (p.His218Gln)
c.*266T>G (n.*266T>G)
n.533T>G
c.294T>G (p.His98Gln)
c.657T>G (p.His219Gln)
Xg.80026725A=CA2439980741TBX22c.655A= (p.Lys219=)
c.*267A= (n.*267A=)
n.534A=
c.295A= (p.Lys99=)
c.658A= (p.Lys220=)
Xg.80026725A>CCA413740656TBX22c.655A>C (p.Lys219Gln)
c.*267A>C (n.*267A>C)
n.534A>C
c.295A>C (p.Lys99Gln)
c.658A>C (p.Lys220Gln)
 dbSNP gnomAD v3 gnomAD v4
Xg.80026725A>GCA413740657TBX22c.655A>G (p.Lys219Glu)
c.*267A>G (n.*267A>G)
n.534A>G
c.295A>G (p.Lys99Glu)
c.658A>G (p.Lys220Glu)
Xg.80026725A>TCA413740658TBX22c.655A>T (p.Lys219Ter)
c.*267A>T (n.*267A>T)
n.534A>T
c.295A>T (p.Lys99Ter)
c.658A>T (p.Lys220Ter)
Xg.80026726A>CCA413740660TBX22c.656A>C (p.Lys219Thr)
c.*268A>C (n.*268A>C)
n.535A>C
c.296A>C (p.Lys99Thr)
c.659A>C (p.Lys220Thr)
Xg.80026726A>GCA413740661TBX22c.656A>G (p.Lys219Arg)
c.*268A>G (n.*268A>G)
n.535A>G
c.296A>G (p.Lys99Arg)
c.659A>G (p.Lys220Arg)
 gnomAD v4
Xg.80026726A>TCA413740659TBX22c.656A>T (p.Lys219Met)
c.*268A>T (n.*268A>T)
n.535A>T
c.296A>T (p.Lys99Met)
c.659A>T (p.Lys220Met)
Xg.80026727G>ACA517403014TBX22c.657G>A (p.Lys219=)
c.*269G>A (n.*269G>A)
n.536G>A
c.297G>A (p.Lys99=)
c.660G>A (p.Lys220=)
Xg.80026727G>CCA413740662TBX22c.657G>C (p.Lys219Asn)
c.*269G>C (n.*269G>C)
n.536G>C
c.297G>C (p.Lys99Asn)
c.660G>C (p.Lys220Asn)
Xg.80026727G>TCA413740663TBX22c.657G>T (p.Lys219Asn)
c.*269G>T (n.*269G>T)
n.536G>T
c.297G>T (p.Lys99Asn)
c.660G>T (p.Lys220Asn)
Xg.80026728T>ACA413740664TBX22c.658T>A (p.Tyr220Asn)
c.*270T>A (n.*270T>A)
n.537T>A
c.298T>A (p.Tyr100Asn)
c.661T>A (p.Tyr221Asn)
Xg.80026728T>CCA413740665TBX22c.658T>C (p.Tyr220His)
c.*270T>C (n.*270T>C)
n.537T>C
c.298T>C (p.Tyr100His)
c.661T>C (p.Tyr221His)
Xg.80026728T>GCA413740666TBX22c.658T>G (p.Tyr220Asp)
c.*270T>G (n.*270T>G)
n.537T>G
c.298T>G (p.Tyr100Asp)
c.661T>G (p.Tyr221Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.80026728T=CA2439980742TBX22c.658T= (p.Tyr220=)
c.*270T= (n.*270T=)
n.537T=
c.298T= (p.Tyr100=)
c.661T= (p.Tyr221=)
Xg.80026729A>CCA413740667TBX22c.659A>C (p.Tyr220Ser)
c.*271A>C (n.*271A>C)
n.538A>C
c.299A>C (p.Tyr100Ser)
c.662A>C (p.Tyr221Ser)
Xg.80026729A>GCA413740668TBX22c.659A>G (p.Tyr220Cys)
c.*271A>G (n.*271A>G)
n.538A>G
c.299A>G (p.Tyr100Cys)
c.662A>G (p.Tyr221Cys)
Xg.80026729A>TCA413740669TBX22c.659A>T (p.Tyr220Phe)
c.*271A>T (n.*271A>T)
n.538A>T
c.299A>T (p.Tyr100Phe)
c.662A>T (p.Tyr221Phe)
Xg.80026730C>ACA413740670TBX22c.660C>A (p.Tyr220Ter)
c.*272C>A (n.*272C>A)
n.539C>A
c.300C>A (p.Tyr100Ter)
c.663C>A (p.Tyr221Ter)
Xg.80026730C>GCA413740671TBX22c.660C>G (p.Tyr220Ter)
c.*272C>G (n.*272C>G)
n.539C>G
c.300C>G (p.Tyr100Ter)
c.663C>G (p.Tyr221Ter)
Xg.80026730C>TCA517403015TBX22c.660C>T (p.Tyr220=)
c.*272C>T (n.*272C>T)
n.539C>T
c.300C>T (p.Tyr100=)
c.663C>T (p.Tyr221=)
Xg.80026731A>CCA413740672TBX22c.661A>C (p.Lys221Gln)
c.*273A>C (n.*273A>C)
n.540A>C
c.301A>C (p.Lys101Gln)
c.664A>C (p.Lys222Gln)
Xg.80026731A>GCA413740673TBX22c.661A>G (p.Lys221Glu)
c.*273A>G (n.*273A>G)
n.540A>G
c.301A>G (p.Lys101Glu)
c.664A>G (p.Lys222Glu)
Xg.80026731A>TCA413740674TBX22c.661A>T (p.Lys221Ter)
c.*273A>T (n.*273A>T)
n.540A>T
c.301A>T (p.Lys101Ter)
c.664A>T (p.Lys222Ter)
Xg.80026732A>CCA413740677TBX22c.662A>C (p.Lys221Thr)
c.*274A>C (n.*274A>C)
n.541A>C
c.302A>C (p.Lys101Thr)
c.665A>C (p.Lys222Thr)
Xg.80026732A>GCA413740675TBX22c.662A>G (p.Lys221Arg)
c.*274A>G (n.*274A>G)
n.541A>G
c.302A>G (p.Lys101Arg)
c.665A>G (p.Lys222Arg)
Xg.80026732A>TCA413740676TBX22c.662A>T (p.Lys221Ile)
c.*274A>T (n.*274A>T)
n.541A>T
c.302A>T (p.Lys101Ile)
c.665A>T (p.Lys222Ile)
Xg.80026733A>CCA413740678TBX22c.663A>C (p.Lys221Asn)
c.*275A>C (n.*275A>C)
n.542A>C
c.303A>C (p.Lys101Asn)
c.666A>C (p.Lys222Asn)
Xg.80026733A>GCA517403016TBX22c.663A>G (p.Lys221=)
c.*275A>G (n.*275A>G)
n.542A>G
c.303A>G (p.Lys101=)
c.666A>G (p.Lys222=)
Xg.80026733A>TCA413740679TBX22c.663A>T (p.Lys221Asn)
c.*275A>T (n.*275A>T)
n.542A>T
c.303A>T (p.Lys101Asn)
c.666A>T (p.Lys222Asn)
Xg.80026734C>ACA10461280TBX22c.664C>A (p.Pro222Thr)
c.*276C>A (n.*276C>A)
n.543C>A
c.304C>A (p.Pro102Thr)
c.667C>A (p.Pro223Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026734C=CA2439980743TBX22c.664C= (p.Pro222=)
c.*276C= (n.*276C=)
n.543C=
c.304C= (p.Pro102=)
c.667C= (p.Pro223=)
Xg.80026734C>GCA413740680TBX22c.664C>G (p.Pro222Ala)
c.*276C>G (n.*276C>G)
n.543C>G
c.304C>G (p.Pro102Ala)
c.667C>G (p.Pro223Ala)
Xg.80026734C>TCA413740681TBX22c.664C>T (p.Pro222Ser)
c.*276C>T (n.*276C>T)
n.543C>T
c.304C>T (p.Pro102Ser)
c.667C>T (p.Pro223Ser)
Xg.80026737delCA2580101995TBX22c.667del (p.Arg223GlufsTer4)
c.*279del (n.*279del)
n.546del
c.307del (p.Arg103GlufsTer4)
c.670del (p.Arg224GlufsTer4)
 ClinVar
Xg.80026735C>ACA413740682TBX22c.665C>A (p.Pro222His)
c.*277C>A (n.*277C>A)
n.544C>A
c.305C>A (p.Pro102His)
c.668C>A (p.Pro223His)
 COSMIC
Xg.80026735C>GCA413740683TBX22c.665C>G (p.Pro222Arg)
c.*277C>G (n.*277C>G)
n.544C>G
c.305C>G (p.Pro102Arg)
c.668C>G (p.Pro223Arg)
Xg.80026735C>TCA413740684TBX22c.665C>T (p.Pro222Leu)
c.*277C>T (n.*277C>T)
n.544C>T
c.305C>T (p.Pro102Leu)
c.668C>T (p.Pro223Leu)
 gnomAD v4 COSMIC
Xg.80026736C>ACA517403017TBX22c.666C>A (p.Pro222=)
c.*278C>A (n.*278C>A)
n.545C>A
c.306C>A (p.Pro102=)
c.669C>A (p.Pro223=)
Xg.80026736C=CA2439980744TBX22c.666C= (p.Pro222=)
c.*278C= (n.*278C=)
n.545C=
c.306C= (p.Pro102=)
c.669C= (p.Pro223=)
Xg.80026736C>GCA10461281TBX22c.666C>G (p.Pro222=)
c.*278C>G (n.*278C>G)
n.545C>G
c.306C>G (p.Pro102=)
c.669C>G (p.Pro223=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026736C>TCA517403018TBX22c.666C>T (p.Pro222=)
c.*278C>T (n.*278C>T)
n.545C>T
c.306C>T (p.Pro102=)
c.669C>T (p.Pro223=)
Xg.80026737C>ACA517403019TBX22c.667C>A (p.Arg223=)
c.*279C>A (n.*279C>A)
n.546C>A
c.307C>A (p.Arg103=)
c.670C>A (p.Arg224=)
 COSMIC
Xg.80026737C>GCA413740685TBX22c.667C>G (p.Arg223Gly)
c.*279C>G (n.*279C>G)
n.546C>G
c.307C>G (p.Arg103Gly)
c.670C>G (p.Arg224Gly)
Xg.80026737C>TCA413740686TBX22c.667C>T (p.Arg223Ter)
c.*279C>T (n.*279C>T)
n.546C>T
c.307C>T (p.Arg103Ter)
c.670C>T (p.Arg224Ter)
Xg.80026738G>ACA413740687TBX22c.668G>A (p.Arg223Gln)
c.*280G>A (n.*280G>A)
n.547G>A
c.308G>A (p.Arg103Gln)
c.671G>A (p.Arg224Gln)
 ClinVar gnomAD v4
Xg.80026738G>CCA413740689TBX22c.668G>C (p.Arg223Pro)
c.*280G>C (n.*280G>C)
n.547G>C
c.308G>C (p.Arg103Pro)
c.671G>C (p.Arg224Pro)
Xg.80026738G>TCA413740688TBX22c.668G>T (p.Arg223Leu)
c.*280G>T (n.*280G>T)
n.547G>T
c.308G>T (p.Arg103Leu)
c.671G>T (p.Arg224Leu)
Xg.80026739A>CCA517403022TBX22c.669A>C (p.Arg223=)
c.*281A>C (n.*281A>C)
n.548A>C
c.309A>C (p.Arg103=)
c.672A>C (p.Arg224=)
 gnomAD v4
Xg.80026739A>GCA517403021TBX22c.669A>G (p.Arg223=)
c.*281A>G (n.*281A>G)
n.548A>G
c.309A>G (p.Arg103=)
c.672A>G (p.Arg224=)
Xg.80026739A>TCA517403020TBX22c.669A>T (p.Arg223=)
c.*281A>T (n.*281A>T)
n.548A>T
c.309A>T (p.Arg103=)
c.672A>T (p.Arg224=)
Xg.80026740G>ACA413740690TBX22c.670G>A (p.Val224Met)
c.*282G>A (n.*282G>A)
n.549G>A
c.310G>A (p.Val104Met)
c.673G>A (p.Val225Met)
 dbSNP gnomAD v2 gnomAD v4
Xg.80026740G>CCA413740691TBX22c.670G>C (p.Val224Leu)
c.*282G>C (n.*282G>C)
n.549G>C
c.310G>C (p.Val104Leu)
c.673G>C (p.Val225Leu)
Xg.80026740G=CA2439980745TBX22c.670G= (p.Val224=)
c.*282G= (n.*282G=)
n.549G=
c.310G= (p.Val104=)
c.673G= (p.Val225=)
Xg.80026740G>TCA413740692TBX22c.670G>T (p.Val224Leu)
c.*282G>T (n.*282G>T)
n.549G>T
c.310G>T (p.Val104Leu)
c.673G>T (p.Val225Leu)
Xg.80026741T>ACA413740693TBX22c.671T>A (p.Val224Glu)
c.*283T>A (n.*283T>A)
n.550T>A
c.311T>A (p.Val104Glu)
c.674T>A (p.Val225Glu)
 gnomAD v4
Xg.80026741T>CCA413740694TBX22c.671T>C (p.Val224Ala)
c.*283T>C (n.*283T>C)
n.550T>C
c.311T>C (p.Val104Ala)
c.674T>C (p.Val225Ala)
Xg.80026741T>GCA413740695TBX22c.671T>G (p.Val224Gly)
c.*283T>G (n.*283T>G)
n.550T>G
c.311T>G (p.Val104Gly)
c.674T>G (p.Val225Gly)
Xg.80026742G>ACA517403023TBX22c.672G>A (p.Val224=)
c.*284G>A (n.*284G>A)
n.551G>A
c.312G>A (p.Val104=)
c.675G>A (p.Val225=)
Xg.80026742G>CCA517403026TBX22c.672G>C (p.Val224=)
c.*284G>C (n.*284G>C)
n.551G>C
c.312G>C (p.Val104=)
c.675G>C (p.Val225=)
Xg.80026742G>TCA517403025TBX22c.672G>T (p.Val224=)
c.*284G>T (n.*284G>T)
n.551G>T
c.312G>T (p.Val104=)
c.675G>T (p.Val225=)
Xg.80026743C>ACA413740697TBX22c.673C>A (p.His225Asn)
c.*285C>A (n.*285C>A)
n.552C>A
c.313C>A (p.His105Asn)
c.676C>A (p.His226Asn)
Xg.80026743C=CA2439980746TBX22c.673C= (p.His225=)
c.*285C= (n.*285C=)
n.552C=
c.313C= (p.His105=)
c.676C= (p.His226=)
Xg.80026743C>GCA413740696TBX22c.673C>G (p.His225Asp)
c.*285C>G (n.*285C>G)
n.552C>G
c.313C>G (p.His105Asp)
c.676C>G (p.His226Asp)
Xg.80026743C>TCA331778189TBX22c.673C>T (p.His225Tyr)
c.*285C>T (n.*285C>T)
n.552C>T
c.313C>T (p.His105Tyr)
c.676C>T (p.His226Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026744A>CCA413740698TBX22c.674A>C (p.His225Pro)
c.*286A>C (n.*286A>C)
n.553A>C
c.314A>C (p.His105Pro)
c.677A>C (p.His226Pro)
Xg.80026744A>GCA413740699TBX22c.674A>G (p.His225Arg)
c.*286A>G (n.*286A>G)
n.553A>G
c.314A>G (p.His105Arg)
c.677A>G (p.His226Arg)
Xg.80026744A>TCA413740700TBX22c.674A>T (p.His225Leu)
c.*286A>T (n.*286A>T)
n.553A>T
c.314A>T (p.His105Leu)
c.677A>T (p.His226Leu)
Xg.80026745C>ACA413740701TBX22c.675C>A (p.His225Gln)
c.*287C>A (n.*287C>A)
n.554C>A
c.315C>A (p.His105Gln)
c.678C>A (p.His226Gln)
Xg.80026745C=CA2439980747TBX22c.675C= (p.His225=)
c.*287C= (n.*287C=)
n.554C=
c.315C= (p.His105=)
c.678C= (p.His226=)
Xg.80026745C>GCA413740702TBX22c.675C>G (p.His225Gln)
c.*287C>G (n.*287C>G)
n.554C>G
c.315C>G (p.His105Gln)
c.678C>G (p.His226Gln)
Xg.80026745C>TCA10461282TBX22c.675C>T (p.His225=)
c.*287C>T (n.*287C>T)
n.554C>T
c.315C>T (p.His105=)
c.678C>T (p.His226=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026746G>ACA10461283TBX22c.676G>A (p.Val226Met)
c.*288G>A (n.*288G>A)
n.555G>A
c.316G>A (p.Val106Met)
c.679G>A (p.Val227Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026746G>CCA413740703TBX22c.676G>C (p.Val226Leu)
c.*288G>C (n.*288G>C)
n.555G>C
c.316G>C (p.Val106Leu)
c.679G>C (p.Val227Leu)
Xg.80026746G=CA2439980748TBX22c.676G= (p.Val226=)
c.*288G= (n.*288G=)
n.555G=
c.316G= (p.Val106=)
c.679G= (p.Val227=)
Xg.80026746G>TCA413740704TBX22c.676G>T (p.Val226Leu)
c.*288G>T (n.*288G>T)
n.555G>T
c.316G>T (p.Val106Leu)
c.679G>T (p.Val227Leu)
Xg.80026747T>ACA413740705TBX22c.677T>A (p.Val226Glu)
c.*289T>A (n.*289T>A)
n.556T>A
c.317T>A (p.Val106Glu)
c.680T>A (p.Val227Glu)
Xg.80026747T>CCA413740706TBX22c.677T>C (p.Val226Ala)
c.*289T>C (n.*289T>C)
n.556T>C
c.317T>C (p.Val106Ala)
c.680T>C (p.Val227Ala)
Xg.80026747T>GCA413740707TBX22c.677T>G (p.Val226Gly)
c.*289T>G (n.*289T>G)
n.556T>G
c.317T>G (p.Val106Gly)
c.680T>G (p.Val227Gly)
Xg.80026748G>ACA517403030TBX22c.678G>A (p.Val226=)
c.*290G>A (n.*290G>A)
n.557G>A
c.318G>A (p.Val106=)
c.681G>A (p.Val227=)
 gnomAD v4
Xg.80026748G>CCA517403031TBX22c.678G>C (p.Val226=)
c.*290G>C (n.*290G>C)
n.557G>C
c.318G>C (p.Val106=)
c.681G>C (p.Val227=)
 dbSNP
Xg.80026748G=CA2439980749TBX22c.678G= (p.Val226=)
c.*290G= (n.*290G=)
n.557G=
c.318G= (p.Val106=)
c.681G= (p.Val227=)
Xg.80026748G>TCA517403033TBX22c.678G>T (p.Val226=)
c.*290G>T (n.*290G>T)
n.557G>T
c.318G>T (p.Val106=)
c.681G>T (p.Val227=)
Xg.80026749A>CCA413740708TBX22c.679A>C (p.Ile227Leu)
c.*291A>C (n.*291A>C)
n.558A>C
c.319A>C (p.Ile107Leu)
c.682A>C (p.Ile228Leu)
 gnomAD v4
Xg.80026749A>GCA413740709TBX22c.679A>G (p.Ile227Val)
c.*291A>G (n.*291A>G)
n.558A>G
c.319A>G (p.Ile107Val)
c.682A>G (p.Ile228Val)
Xg.80026749A>TCA413740710TBX22c.679A>T (p.Ile227Leu)
c.*291A>T (n.*291A>T)
n.558A>T
c.319A>T (p.Ile107Leu)
c.682A>T (p.Ile228Leu)
Xg.80026750T>ACA413740711TBX22c.680T>A (p.Ile227Lys)
c.*292T>A (n.*292T>A)
n.559T>A
c.320T>A (p.Ile107Lys)
c.683T>A (p.Ile228Lys)
Xg.80026750T>CCA413740712TBX22c.680T>C (p.Ile227Thr)
c.*292T>C (n.*292T>C)
n.559T>C
c.320T>C (p.Ile107Thr)
c.683T>C (p.Ile228Thr)
Xg.80026750T>GCA413740713TBX22c.680T>G (p.Ile227Arg)
c.*292T>G (n.*292T>G)
n.559T>G
c.320T>G (p.Ile107Arg)
c.683T>G (p.Ile228Arg)
Xg.80026751A>CCA517403034TBX22c.681A>C (p.Ile227=)
c.*293A>C (n.*293A>C)
n.560A>C
c.321A>C (p.Ile107=)
c.684A>C (p.Ile228=)
Xg.80026751A>GCA413740714TBX22c.681A>G (p.Ile227Met)
c.*293A>G (n.*293A>G)
n.560A>G
c.321A>G (p.Ile107Met)
c.684A>G (p.Ile228Met)
Xg.80026751A>TCA517403035TBX22c.681A>T (p.Ile227=)
c.*293A>T (n.*293A>T)
n.560A>T
c.321A>T (p.Ile107=)
c.684A>T (p.Ile228=)
Xg.80026752G>ACA331778190TBX22c.682G>A (p.Glu228Lys)
c.*294G>A (n.*294G>A)
n.561G>A
c.322G>A (p.Glu108Lys)
c.685G>A (p.Glu229Lys)
 dbSNP gnomAD v3 gnomAD v4
Xg.80026752G>CCA413740715TBX22c.682G>C (p.Glu228Gln)
c.*294G>C (n.*294G>C)
n.561G>C
c.322G>C (p.Glu108Gln)
c.685G>C (p.Glu229Gln)
Xg.80026752G=CA2439980750TBX22c.682G= (p.Glu228=)
c.*294G= (n.*294G=)
n.561G=
c.322G= (p.Glu108=)
c.685G= (p.Glu229=)
Xg.80026752G>TCA413740716TBX22c.682G>T (p.Glu228Ter)
c.*294G>T (n.*294G>T)
n.561G>T
c.322G>T (p.Glu108Ter)
c.685G>T (p.Glu229Ter)
Xg.80026753A>CCA413740717TBX22c.683A>C (p.Glu228Ala)
c.*295A>C (n.*295A>C)
n.562A>C
c.323A>C (p.Glu108Ala)
c.686A>C (p.Glu229Ala)
Xg.80026753A>GCA413740719TBX22c.683A>G (p.Glu228Gly)
c.*295A>G (n.*295A>G)
n.562A>G
c.323A>G (p.Glu108Gly)
c.686A>G (p.Glu229Gly)
Xg.80026753A>TCA413740718TBX22c.683A>T (p.Glu228Val)
c.*295A>T (n.*295A>T)
n.562A>T
c.323A>T (p.Glu108Val)
c.686A>T (p.Glu229Val)
 dbSNP
Xg.80026754G>ACA517403036TBX22c.684G>A (p.Glu228=)
c.*296G>A (n.*296G>A)
n.563G>A
c.324G>A (p.Glu108=)
c.687G>A (p.Glu229=)
 dbSNP gnomAD v2
Xg.80026754G>CCA413740720TBX22c.684G>C (p.Glu228Asp)
c.*296G>C (n.*296G>C)
n.563G>C
c.324G>C (p.Glu108Asp)
c.687G>C (p.Glu229Asp)
Xg.80026754G=CA2439980751TBX22c.684G= (p.Glu228=)
c.*296G= (n.*296G=)
n.563G=
c.324G= (p.Glu108=)
c.687G= (p.Glu229=)
Xg.80026754G>TCA413740721TBX22c.684G>T (p.Glu228Asp)
c.*296G>T (n.*296G>T)
n.563G>T
c.324G>T (p.Glu108Asp)
c.687G>T (p.Glu229Asp)
Xg.80026755C>ACA413740722TBX22c.685C>A (p.Gln229Lys)
c.*297C>A (n.*297C>A)
n.564C>A
c.325C>A (p.Gln109Lys)
c.688C>A (p.Gln230Lys)
 gnomAD v4
Xg.80026755C>GCA413740723TBX22c.685C>G (p.Gln229Glu)
c.*297C>G (n.*297C>G)
n.564C>G
c.325C>G (p.Gln109Glu)
c.688C>G (p.Gln230Glu)
Xg.80026755C>TCA413740724TBX22c.685C>T (p.Gln229Ter)
c.*297C>T (n.*297C>T)
n.564C>T
c.325C>T (p.Gln109Ter)
c.688C>T (p.Gln230Ter)
Xg.80026756A=CA2439980752TBX22c.686A= (p.Gln229=)
c.*298A= (n.*298A=)
n.565A=
c.326A= (p.Gln109=)
c.689A= (p.Gln230=)
Xg.80026756A>CCA413740725TBX22c.686A>C (p.Gln229Pro)
c.*298A>C (n.*298A>C)
n.565A>C
c.326A>C (p.Gln109Pro)
c.689A>C (p.Gln230Pro)
Xg.80026756A>GCA413740726TBX22c.686A>G (p.Gln229Arg)
c.*298A>G (n.*298A>G)
n.565A>G
c.326A>G (p.Gln109Arg)
c.689A>G (p.Gln230Arg)
 gnomAD v4
Xg.80026756A>TCA413740727TBX22c.686A>T (p.Gln229Leu)
c.*298A>T (n.*298A>T)
n.565A>T
c.326A>T (p.Gln109Leu)
c.689A>T (p.Gln230Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.80026757A>CCA413740728TBX22c.687A>C (p.Gln229His)
c.*299A>C (n.*299A>C)
n.566A>C
c.327A>C (p.Gln109His)
c.690A>C (p.Gln230His)
Xg.80026757A>GCA517403037TBX22c.687A>G (p.Gln229=)
c.*299A>G (n.*299A>G)
n.566A>G
c.327A>G (p.Gln109=)
c.690A>G (p.Gln230=)
Xg.80026757A>TCA413740729TBX22c.687A>T (p.Gln229His)
c.*299A>T (n.*299A>T)
n.566A>T
c.327A>T (p.Gln109His)
c.690A>T (p.Gln230His)
Xg.80026758G>ACA413740730TBX22c.688G>A (p.Gly230Ser)
c.*300G>A (n.*300G>A)
n.567G>A
c.328G>A (p.Gly110Ser)
c.691G>A (p.Gly231Ser)
Xg.80026758G>CCA413740731TBX22c.688G>C (p.Gly230Arg)
c.*300G>C (n.*300G>C)
n.567G>C
c.328G>C (p.Gly110Arg)
c.691G>C (p.Gly231Arg)
Xg.80026758G>TCA413740732TBX22c.688G>T (p.Gly230Cys)
c.*300G>T (n.*300G>T)
n.567G>T
c.328G>T (p.Gly110Cys)
c.691G>T (p.Gly231Cys)
 gnomAD v4
Xg.80026759G>ACA10461284TBX22c.689G>A (p.Gly230Asp)
c.*301G>A (n.*301G>A)
n.568G>A
c.329G>A (p.Gly110Asp)
c.692G>A (p.Gly231Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026759G>CCA413740733TBX22c.689G>C (p.Gly230Ala)
c.*301G>C (n.*301G>C)
n.568G>C
c.329G>C (p.Gly110Ala)
c.692G>C (p.Gly231Ala)
Xg.80026759G=CA2439980753TBX22c.689G= (p.Gly230=)
c.*301G= (n.*301G=)
n.568G=
c.329G= (p.Gly110=)
c.692G= (p.Gly231=)
Xg.80026759G>TCA413740734TBX22c.689G>T (p.Gly230Val)
c.*301G>T (n.*301G>T)
n.568G>T
c.329G>T (p.Gly110Val)
c.692G>T (p.Gly231Val)
Xg.80026760C>ACA517403038TBX22c.690C>A (p.Gly230=)
c.*302C>A (n.*302C>A)
n.569C>A
c.330C>A (p.Gly110=)
c.693C>A (p.Gly231=)
 dbSNP
Xg.80026760C>GCA517403039TBX22c.690C>G (p.Gly230=)
c.*302C>G (n.*302C>G)
n.569C>G
c.330C>G (p.Gly110=)
c.693C>G (p.Gly231=)
Xg.80026760C>TCA517403040TBX22c.690C>T (p.Gly230=)
c.*302C>T (n.*302C>T)
n.569C>T
c.330C>T (p.Gly110=)
c.693C>T (p.Gly231=)
Xg.80026761A>CCA413740735TBX22c.691A>C (p.Ser231Arg)
c.*303A>C (n.*303A>C)
n.570A>C
c.331A>C (p.Ser111Arg)
c.694A>C (p.Ser232Arg)
Xg.80026761A>GCA413740736TBX22c.691A>G (p.Ser231Gly)
c.*303A>G (n.*303A>G)
n.570A>G
c.331A>G (p.Ser111Gly)
c.694A>G (p.Ser232Gly)
Xg.80026761A>TCA413740737TBX22c.691A>T (p.Ser231Cys)
c.*303A>T (n.*303A>T)
n.570A>T
c.331A>T (p.Ser111Cys)
c.694A>T (p.Ser232Cys)
Xg.80026762G>ACA413740738TBX22c.692G>A (p.Ser231Asn)
c.*304G>A (n.*304G>A)
n.571G>A
c.332G>A (p.Ser111Asn)
c.695G>A (p.Ser232Asn)
 dbSNP gnomAD v3 gnomAD v4
Xg.80026762G>CCA413740739TBX22c.692G>C (p.Ser231Thr)
c.*304G>C (n.*304G>C)
n.571G>C
c.332G>C (p.Ser111Thr)
c.695G>C (p.Ser232Thr)
Xg.80026762G=CA2439980754TBX22c.692G= (p.Ser231=)
c.*304G= (n.*304G=)
n.571G=
c.332G= (p.Ser111=)
c.695G= (p.Ser232=)
Xg.80026762G>TCA413740740TBX22c.692G>T (p.Ser231Ile)
c.*304G>T (n.*304G>T)
n.571G>T
c.332G>T (p.Ser111Ile)
c.695G>T (p.Ser232Ile)
Xg.80026763C>ACA413740741TBX22c.693C>A (p.Ser231Arg)
c.*305C>A (n.*305C>A)
n.572C>A
c.333C>A (p.Ser111Arg)
c.696C>A (p.Ser232Arg)
 dbSNP gnomAD v3 gnomAD v4
Xg.80026763C=CA2439980755TBX22c.693C= (p.Ser231=)
c.*305C= (n.*305C=)
n.572C=
c.333C= (p.Ser111=)
c.696C= (p.Ser232=)
Xg.80026763C>GCA413740742TBX22c.693C>G (p.Ser231Arg)
c.*305C>G (n.*305C>G)
n.572C>G
c.333C>G (p.Ser111Arg)
c.696C>G (p.Ser232Arg)
 dbSNP
Xg.80026763C>TCA517403041TBX22c.693C>T (p.Ser231=)
c.*305C>T (n.*305C>T)
n.572C>T
c.333C>T (p.Ser111=)
c.696C>T (p.Ser232=)
Xg.80026764A>CCA413740743TBX22c.694A>C (p.Ser232Arg)
c.*306A>C (n.*306A>C)
n.573A>C
c.334A>C (p.Ser112Arg)
c.697A>C (p.Ser233Arg)
Xg.80026764A>GCA413740744TBX22c.694A>G (p.Ser232Gly)
c.*306A>G (n.*306A>G)
n.573A>G
c.334A>G (p.Ser112Gly)
c.697A>G (p.Ser233Gly)
Xg.80026764A>TCA413740745TBX22c.694A>T (p.Ser232Cys)
c.*306A>T (n.*306A>T)
n.573A>T
c.334A>T (p.Ser112Cys)
c.697A>T (p.Ser233Cys)
Xg.80026765G>ACA413740746TBX22c.695G>A (p.Ser232Asn)
c.*307G>A (n.*307G>A)
n.574G>A
c.335G>A (p.Ser112Asn)
c.698G>A (p.Ser233Asn)
 dbSNP
Xg.80026765G>CCA413740748TBX22c.695G>C (p.Ser232Thr)
c.*307G>C (n.*307G>C)
n.574G>C
c.335G>C (p.Ser112Thr)
c.698G>C (p.Ser233Thr)
Xg.80026765G=CA2439980756TBX22c.695G= (p.Ser232=)
c.*307G= (n.*307G=)
n.574G=
c.335G= (p.Ser112=)
c.698G= (p.Ser233=)
Xg.80026765G>TCA413740747TBX22c.695G>T (p.Ser232Ile)
c.*307G>T (n.*307G>T)
n.574G>T
c.335G>T (p.Ser112Ile)
c.698G>T (p.Ser233Ile)
Xg.80026766T>ACA413740749TBX22c.696T>A (p.Ser232Arg)
c.*308T>A (n.*308T>A)
n.575T>A
c.336T>A (p.Ser112Arg)
c.699T>A (p.Ser233Arg)
Xg.80026766T>CCA517403042TBX22c.696T>C (p.Ser232=)
c.*308T>C (n.*308T>C)
n.575T>C
c.336T>C (p.Ser112=)
c.699T>C (p.Ser233=)
 dbSNP gnomAD v2 gnomAD v4
Xg.80026766T>GCA413740750TBX22c.696T>G (p.Ser232Arg)
c.*308T>G (n.*308T>G)
n.575T>G
c.336T>G (p.Ser112Arg)
c.699T>G (p.Ser233Arg)
Xg.80026766T=CA2439980757TBX22c.696T= (p.Ser232=)
c.*308T= (n.*308T=)
n.575T=
c.336T= (p.Ser112=)
c.699T= (p.Ser233=)
Xg.80026767G>ACA10461285TBX22c.697G>A (p.Val233Ile)
c.*309G>A (n.*309G>A)
n.576G>A
c.337G>A (p.Val113Ile)
c.700G>A (p.Val234Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.80026767G>CCA413740751TBX22c.697G>C (p.Val233Leu)
c.*309G>C (n.*309G>C)
n.576G>C
c.337G>C (p.Val113Leu)
c.700G>C (p.Val234Leu)
Xg.80026767G=CA2439980758TBX22c.697G= (p.Val233=)
c.*309G= (n.*309G=)
n.576G=
c.337G= (p.Val113=)
c.700G= (p.Val234=)
Xg.80026767G>TCA413740752TBX22c.697G>T (p.Val233Phe)
c.*309G>T (n.*309G>T)
n.576G>T
c.337G>T (p.Val113Phe)
c.700G>T (p.Val234Phe)
 dbSNP
Xg.80026768T>ACA413740753TBX22c.698T>A (p.Val233Asp)
c.*310T>A (n.*310T>A)
n.577T>A
c.338T>A (p.Val113Asp)
c.701T>A (p.Val234Asp)
Xg.80026768T>CCA413740754TBX22c.698T>C (p.Val233Ala)
c.*310T>C (n.*310T>C)
n.577T>C
c.338T>C (p.Val113Ala)
c.701T>C (p.Val234Ala)
Xg.80026768T>GCA413740755TBX22c.698T>G (p.Val233Gly)
c.*310T>G (n.*310T>G)
n.577T>G
c.338T>G (p.Val113Gly)
c.701T>G (p.Val234Gly)
Xg.80026769T>ACA517403043TBX22c.699T>A (p.Val233=)
c.*311T>A (n.*311T>A)
n.578T>A
c.339T>A (p.Val113=)
c.702T>A (p.Val234=)
Xg.80026769T>CCA517403044TBX22c.699T>C (p.Val233=)
c.*311T>C (n.*311T>C)
n.578T>C
c.339T>C (p.Val113=)
c.702T>C (p.Val234=)
Xg.80026769T>GCA517403045TBX22c.699T>G (p.Val233=)
c.*311T>G (n.*311T>G)
n.578T>G
c.339T>G (p.Val113=)
c.702T>G (p.Val234=)
Xg.80026770G>ACA413740756TBX22c.700G>A (p.Asp234Asn)
c.*312G>A (n.*312G>A)
n.579G>A
c.340G>A (p.Asp114Asn)
c.703G>A (p.Asp235Asn)
Xg.80026770G>CCA413740757TBX22c.700G>C (p.Asp234His)
c.*312G>C (n.*312G>C)
n.579G>C
c.340G>C (p.Asp114His)
c.703G>C (p.Asp235His)
Xg.80026770G>TCA413740758TBX22c.700G>T (p.Asp234Tyr)
c.*312G>T (n.*312G>T)
n.579G>T
c.340G>T (p.Asp114Tyr)
c.703G>T (p.Asp235Tyr)
Xg.80026771A>CCA413740759TBX22c.701A>C (p.Asp234Ala)
c.*313A>C (n.*313A>C)
n.580A>C
c.341A>C (p.Asp114Ala)
c.704A>C (p.Asp235Ala)
Xg.80026771A>GCA413740760TBX22c.701A>G (p.Asp234Gly)
c.*313A>G (n.*313A>G)
n.580A>G
c.341A>G (p.Asp114Gly)
c.704A>G (p.Asp235Gly)
Xg.80026771A>TCA413740761TBX22c.701A>T (p.Asp234Val)
c.*313A>T (n.*313A>T)
n.580A>T
c.341A>T (p.Asp114Val)
c.704A>T (p.Asp235Val)
Xg.80026772C>ACA413740762TBX22c.702C>A (p.Asp234Glu)
c.*314C>A (n.*314C>A)
n.581C>A
c.342C>A (p.Asp114Glu)
c.705C>A (p.Asp235Glu)
Xg.80026772C=CA2439980759TBX22c.702C= (p.Asp234=)
c.*314C= (n.*314C=)
n.581C=
c.342C= (p.Asp114=)
c.705C= (p.Asp235=)
Xg.80026772C>GCA10461287TBX22c.702C>G (p.Asp234Glu)
c.*314C>G (n.*314C>G)
n.581C>G
c.342C>G (p.Asp114Glu)
c.705C>G (p.Asp235Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026772C>TCA10461286TBX22c.702C>T (p.Asp234=)
c.*314C>T (n.*314C>T)
n.581C>T
c.342C>T (p.Asp114=)
c.705C>T (p.Asp235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.80026773C>ACA413740763TBX22c.703C>A (p.Leu235Met)
c.*315C>A (n.*315C>A)
n.582C>A
c.343C>A (p.Leu115Met)
c.706C>A (p.Leu236Met)
Xg.80026773C>GCA413740764TBX22c.703C>G (p.Leu235Val)
c.*315C>G (n.*315C>G)
n.582C>G
c.343C>G (p.Leu115Val)
c.706C>G (p.Leu236Val)
Xg.80026773C>TCA517403046TBX22c.703C>T (p.Leu235=)
c.*315C>T (n.*315C>T)
n.582C>T
c.343C>T (p.Leu115=)
c.706C>T (p.Leu236=)
Xg.80026774T>ACA413740765TBX22c.704T>A (p.Leu235Gln)
c.*316T>A (n.*316T>A)
n.583T>A
c.344T>A (p.Leu115Gln)
c.707T>A (p.Leu236Gln)
Xg.80026774T>CCA413740766TBX22c.704T>C (p.Leu235Pro)
c.*316T>C (n.*316T>C)
n.583T>C
c.344T>C (p.Leu115Pro)
c.707T>C (p.Leu236Pro)
Xg.80026774T>GCA413740767TBX22c.704T>G (p.Leu235Arg)
c.*316T>G (n.*316T>G)
n.583T>G
c.344T>G (p.Leu115Arg)
c.707T>G (p.Leu236Arg)
Xg.80026775G>ACA517403047TBX22c.705G>A (p.Leu235=)
c.*317G>A (n.*317G>A)
n.584G>A
c.345G>A (p.Leu115=)
c.708G>A (p.Leu236=)
Xg.80026775G>CCA517403048TBX22c.705G>C (p.Leu235=)
c.*317G>C (n.*317G>C)
n.584G>C
c.345G>C (p.Leu115=)
c.708G>C (p.Leu236=)
Xg.80026775G>TCA517403049TBX22c.705G>T (p.Leu235=)
c.*317G>T (n.*317G>T)
n.584G>T
c.345G>T (p.Leu115=)
c.708G>T (p.Leu236=)
Xg.80026776T>ACA413740768TBX22c.706T>A (p.Ser236Thr)
c.*318T>A (n.*318T>A)
n.585T>A
c.346T>A (p.Ser116Thr)
c.709T>A (p.Ser237Thr)
Xg.80026776T>CCA413740769TBX22c.706T>C (p.Ser236Pro)
c.*318T>C (n.*318T>C)
n.585T>C
c.346T>C (p.Ser116Pro)
c.709T>C (p.Ser237Pro)
Xg.80026776T>GCA413740770TBX22c.706T>G (p.Ser236Ala)
c.*318T>G (n.*318T>G)
n.585T>G
c.346T>G (p.Ser116Ala)
c.709T>G (p.Ser237Ala)

Number of alleles fetched