Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.168293063A=CA1205614098TBX19c.469-81A= (n.469-81A=)
c.266-81A=
1g.168293063A>CCA1205614099TBX19c.469-81A>C (n.469-81A>C)
c.266-81A>C
dbSNP gnomAD v4
1g.168293063A>GCA2649007467TBX19c.469-81A>G (n.469-81A>G)
c.266-81A>G
gnomAD v4
1g.168293064A=CA1205614100TBX19c.469-80A= (n.469-80A=)
c.266-80A=
1g.168293064A>CCA527130735TBX19c.469-80A>C (n.469-80A>C)
c.266-80A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.168293064A>GCA890799993TBX19c.469-80A>G (n.469-80A>G)
c.266-80A>G
dbSNP gnomAD v4
1g.168293065C>ACA527130736TBX19c.469-79C>A (n.469-79C>A)
c.266-79C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.168293065C=CA1205614101TBX19c.469-79C= (n.469-79C=)
c.266-79C=
1g.168293065C>GCA890799996TBX19c.469-79C>G (n.469-79C>G)
c.266-79C>G
dbSNP gnomAD v3 gnomAD v4
1g.168293067G>ACA2649007468TBX19c.469-77G>A (n.469-77G>A)
c.266-77G>A
gnomAD v4
1g.168293067G>CCA2649007470TBX19c.469-77G>C (n.469-77G>C)
c.266-77G>C
gnomAD v4
1g.168293067G>TCA2649007469TBX19c.469-77G>T (n.469-77G>T)
c.266-77G>T
gnomAD v4
1g.168293068G>TCA2649007471TBX19c.469-76G>T (n.469-76G>T)
c.266-76G>T
gnomAD v4
1g.168293069A>GCA2574084050TBX19c.469-75A>G (n.469-75A>G)
c.266-75A>G
gnomAD v4
1g.168293070G>TCA2649007472TBX19c.469-74G>T (n.469-74G>T)
c.266-74G>T
gnomAD v4
1g.168293071A>TCA2746547398TBX19c.469-73A>T (n.469-73A>T)
c.266-73A>T
1g.168293073G>ACA2649007474TBX19c.469-71G>A (n.469-71G>A)
c.266-71G>A
gnomAD v4
1g.168293073G>TCA2649007473TBX19c.469-71G>T (n.469-71G>T)
c.266-71G>T
gnomAD v4
1g.168293074C>ACA2649007475TBX19c.469-70C>A (n.469-70C>A)
c.266-70C>A
gnomAD v4
1g.168293074C=CA1146188300TBX19c.469-70C= (n.469-70C=)
c.266-70C=
1g.168293074C>TCA31493191TBX19c.469-70C>T (n.469-70C>T)
c.266-70C>T
dbSNP gnomAD v3 gnomAD v4
1g.168293076G>TCA2649007476TBX19c.469-68G>T (n.469-68G>T)
c.266-68G>T
gnomAD v4
1g.168293077G>ACA2649007477TBX19c.469-67G>A (n.469-67G>A)
c.266-67G>A
gnomAD v4
1g.168293077G>TCA2649007478TBX19c.469-67G>T (n.469-67G>T)
c.266-67G>T
gnomAD v4
1g.168293078C>ACA2649007479TBX19c.469-66C>A (n.469-66C>A)
c.266-66C>A
gnomAD v4
1g.168293078C>TCA2574084051TBX19c.469-66C>T (n.469-66C>T)
c.266-66C>T
gnomAD v4
1g.168293080C>TCA2574084052TBX19c.469-64C>T (n.469-64C>T)
c.266-64C>T
dbSNP gnomAD v4
1g.168293081C>ACA2649007480TBX19c.469-63C>A (n.469-63C>A)
c.266-63C>A
gnomAD v4
1g.168293081C=CA1144960876TBX19c.469-63C= (n.469-63C=)
c.266-63C=
1g.168293081C>TCA31493199TBX19c.469-63C>T (n.469-63C>T)
c.266-63C>T
dbSNP gnomAD v3 gnomAD v4
1g.168293084delCA2649007481TBX19c.469-60del (n.469-60del)
c.266-60del
gnomAD v4
1g.168293083T>ACA2649007482TBX19c.469-61T>A (n.469-61T>A)
c.266-61T>A
gnomAD v4
1g.168293083T>GCA2605560449TBX19c.469-61T>G (n.469-61T>G)
c.266-61T>G
dbSNP gnomAD v3 gnomAD v4
1g.168293085A=CA1205614102TBX19c.469-59A= (n.469-59A=)
c.266-59A=
1g.168293085A>GCA890799999TBX19c.469-59A>G (n.469-59A>G)
c.266-59A>G
dbSNP gnomAD v3 gnomAD v4
1g.168293087C>ACA2649007483TBX19c.469-57C>A (n.469-57C>A)
c.266-57C>A
gnomAD v4
1g.168293087C=CA1205614103TBX19c.469-57C= (n.469-57C=)
c.266-57C=
1g.168293087C>TCA1008886529TBX19c.469-57C>T (n.469-57C>T)
c.266-57C>T
dbSNP gnomAD v3 gnomAD v4
1g.168293088A=CA1205614104TBX19c.469-56A= (n.469-56A=)
c.266-56A=
1g.168293088A>CCA1205614105TBX19c.469-56A>C (n.469-56A>C)
c.266-56A>C
dbSNP
1g.168293088A>GCA2649007484TBX19c.469-56A>G (n.469-56A>G)
c.266-56A>G
gnomAD v4
1g.168293089C>ACA2649007485TBX19c.469-55C>A (n.469-55C>A)
c.266-55C>A
gnomAD v4
1g.168293089C>TCA2649007486TBX19c.469-55C>T (n.469-55C>T)
c.266-55C>T
gnomAD v4
1g.168293090C>ACA2649007488TBX19c.469-54C>A (n.469-54C>A)
c.266-54C>A
gnomAD v4
1g.168293090C>GCA2574084053TBX19c.469-54C>G (n.469-54C>G)
c.266-54C>G
gnomAD v4
1g.168293090C>TCA2649007487TBX19c.469-54C>T (n.469-54C>T)
c.266-54C>T
gnomAD v4
1g.168293092G>TCA2649007489TBX19c.469-52G>T (n.469-52G>T)
c.266-52G>T
gnomAD v4
1g.168293093C>ACA2649007490TBX19c.469-51C>A (n.469-51C>A)
c.266-51C>A
gnomAD v4
1g.168293093C=CA1143885214TBX19c.469-51C= (n.469-51C=)
c.266-51C=
1g.168293093C>TCA1230499TBX19c.469-51C>T (n.469-51C>T)
c.266-51C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.168293094G>ACA1230500TBX19c.469-50G>A (n.469-50G>A)
c.266-50G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.168293094G=CA1144187433TBX19c.469-50G= (n.469-50G=)
c.266-50G=
1g.168293094G>TCA527130737TBX19c.469-50G>T (n.469-50G>T)
c.266-50G>T
dbSNP gnomAD v2 gnomAD v4
1g.168293095A=CA1205614106TBX19c.469-49A= (n.469-49A=)
c.266-49A=
1g.168293095A>GCA527130738TBX19c.469-49A>G (n.469-49A>G)
c.266-49A>G
dbSNP gnomAD v2 gnomAD v4
1g.168293096T>CCA527130739TBX19c.469-48T>C (n.469-48T>C)
c.266-48T>C
dbSNP gnomAD v2 gnomAD v4
1g.168293096T=CA1205614107TBX19c.469-48T= (n.469-48T=)
c.266-48T=
1g.168293097A=CA1205614108TBX19c.469-47A= (n.469-47A=)
c.266-47A=
1g.168293097A>GCA31493203TBX19c.469-47A>G (n.469-47A>G)
c.266-47A>G
dbSNP gnomAD v4
1g.168293098C>TCA2574084054TBX19c.469-46C>T (n.469-46C>T)
c.266-46C>T
gnomAD v4
1g.168293099A=CA1144071846TBX19c.469-45A= (n.469-45A=)
c.266-45A=
1g.168293099A>GCA31493204TBX19c.469-45A>G (n.469-45A>G)
c.266-45A>G
dbSNP gnomAD v2 gnomAD v4
1g.168293100C=CA1140632358TBX19c.469-44C= (n.469-44C=)
c.266-44C=
1g.168293100C>TCA1230501TBX19c.469-44C>T (n.469-44C>T)
c.266-44C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.168293100_168293101delinsCGCA1205614109TBX19c.469-44_469-43delinsCG (n.469-44_469-43delinsCG)
c.266-44_266-43delinsCG
1g.168293101G>ACA1230503TBX19c.469-43G>A (n.469-43G>A)
c.266-43G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.168293101G>CCA1230502TBX19c.469-43G>C (n.469-43G>C)
c.266-43G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.168293101G=CA1143730291TBX19c.469-43G= (n.469-43G=)
c.266-43G=
1g.168293104delCA1205614110TBX19c.469-40del (n.469-40del)
c.266-40del
dbSNP gnomAD v4
1g.168293102G>CCA1230504TBX19c.469-42G>C (n.469-42G>C)
c.266-42G>C
dbSNP ExAC gnomAD v2 gnomAD v4
1g.168293102G=CA1205614111TBX19c.469-42G= (n.469-42G=)
c.266-42G=
1g.168293104G>CCA527130740TBX19c.469-40G>C (n.469-40G>C)
c.266-40G>C
dbSNP gnomAD v2 gnomAD v4
1g.168293104G=CA1205614112TBX19c.469-40G= (n.469-40G=)
c.266-40G=
1g.168293104G>TCA2649007491TBX19c.469-40G>T (n.469-40G>T)
c.266-40G>T
gnomAD v4
1g.168293105C=CA1205614113TBX19c.469-39C= (n.469-39C=)
c.266-39C=
1g.168293105C>GCA890800016TBX19c.469-39C>G (n.469-39C>G)
c.266-39C>G
dbSNP gnomAD v3 gnomAD v4
1g.168293105C>TCA2649007492TBX19c.469-39C>T (n.469-39C>T)
c.266-39C>T
gnomAD v4
1g.168293108T>GCA2649007493TBX19c.469-36T>G (n.469-36T>G)
c.266-36T>G
gnomAD v4
1g.168293109G>ACA1230505TBX19c.469-35G>A (n.469-35G>A)
c.266-35G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.168293109G>CCA1205614114TBX19c.469-35G>C (n.469-35G>C)
c.266-35G>C
dbSNP
1g.168293109G=CA1144024497TBX19c.469-35G= (n.469-35G=)
c.266-35G=
1g.168293109G>TCA2649007494TBX19c.469-35G>T (n.469-35G>T)
c.266-35G>T
gnomAD v4
1g.168293110_168293111delinsCTCA1205614115TBX19c.469-34_469-33delinsCT (n.469-34_469-33delinsCT)
c.266-34_266-33delinsCT
1g.168293114dupCA2649007495TBX19c.469-30dup (n.469-30dup)
c.266-30dup
gnomAD v4
1g.168293114delCA1230506TBX19c.469-30del (n.469-30del)
c.266-30del
dbSNP ExAC gnomAD v2 gnomAD v4
1g.168293114T>GCA31493242TBX19c.469-30T>G (n.469-30T>G)
c.266-30T>G
dbSNP
1g.168293114T=CA1143539565TBX19c.469-30T= (n.469-30T=)
c.266-30T=
1g.168293115delCA2649007496TBX19c.469-29del (n.469-29del)
c.266-29del
gnomAD v4
1g.168293117C=CA1205614117TBX19c.469-27C= (n.469-27C=)
c.266-27C=
1g.168293117C>TCA527130741TBX19c.469-27C>T (n.469-27C>T)
c.266-27C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.168293117_168293119delinsCCTCA1205614116TBX19c.469-27_469-25delinsCCT (n.469-27_469-25delinsCCT)
c.266-27_266-25delinsCCT
1g.168293118C>ACA2649007497TBX19c.469-26C>A (n.469-26C>A)
c.266-26C>A
gnomAD v4
1g.168293118C>TCA2746547399TBX19c.469-26C>T (n.469-26C>T)
c.266-26C>T
1g.168293120_168293121delCA1230507TBX19c.469-24_469-23del (n.469-24_469-23del)
c.266-24_266-23del
dbSNP ExAC gnomAD v3 gnomAD v4
1g.168293120C>TCA2649007498TBX19c.469-24C>T (n.469-24C>T)
c.266-24C>T
gnomAD v4
1g.168293124C>TCA2649007499TBX19c.469-20C>T (n.469-20C>T)
c.266-20C>T
gnomAD v4
1g.168293126C=CA1205614118TBX19c.469-18C= (n.469-18C=)
c.266-18C=
1g.168293126C>TCA1008886532TBX19c.469-18C>T (n.469-18C>T)
c.266-18C>T
dbSNP gnomAD v3 gnomAD v4
1g.168293127T>CCA2649007500TBX19c.469-17T>C (n.469-17T>C)
c.266-17T>C
gnomAD v4
1g.168293127T>GCA527130751TBX19c.469-17T>G (n.469-17T>G)
c.266-17T>G
dbSNP gnomAD v2
1g.168293127T=CA1205614119TBX19c.469-17T= (n.469-17T=)
c.266-17T=
1g.168293128T>CCA2649007501TBX19c.469-16T>C (n.469-16T>C)
c.266-16T>C
gnomAD v4
1g.168293128_168293131delinsTCTCCA1205614120TBX19c.469-16_469-13delinsTCTC (n.469-16_469-13delinsTCTC)
c.266-16_266-13delinsTCTC
1g.168293131_168293133delCA527130752TBX19c.469-13_469-11del (n.469-13_469-11del)
c.266-13_266-11del
dbSNP gnomAD v2 gnomAD v4
1g.168293130T>CCA2740195851TBX19c.469-14T>C (n.469-14T>C)
c.266-14T>C
1g.168293135C=CA1205614121TBX19c.469-9C= (n.469-9C=)
c.266-9C=
1g.168293135C>TCA1205614122TBX19c.469-9C>T (n.469-9C>T)
c.266-9C>T
dbSNP
1g.168293137T>ACA1230508TBX19c.469-7T>A (n.469-7T>A)
c.266-7T>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.168293137T=CA1143841682TBX19c.469-7T= (n.469-7T=)
c.266-7T=
1g.168293138C=CA1143958450TBX19c.469-6C= (n.469-6C=)
c.266-6C=
1g.168293138C>GCA2574084055TBX19c.469-6C>G (n.469-6C>G)
c.266-6C>G
gnomAD v4
1g.168293138C>TCA31493262TBX19c.469-6C>T (n.469-6C>T)
c.266-6C>T
dbSNP gnomAD v2 gnomAD v4
1g.168293139G>ACA1230509TBX19c.469-5G>A (n.469-5G>A)
c.266-5G>A
dbSNP ExAC gnomAD v2 gnomAD v4
1g.168293139G>CCA2574084056TBX19c.469-5G>C (n.469-5G>C)
c.266-5G>C
1g.168293139G=CA1205614123TBX19c.469-5G= (n.469-5G=)
c.266-5G=
1g.168293139G>TCA2649007502TBX19c.469-5G>T (n.469-5G>T)
c.266-5G>T
gnomAD v4
1g.168293140A=CA1205614124TBX19c.469-4A= (n.469-4A=)
c.266-4A=
1g.168293140A>GCA527130755TBX19c.469-4A>G (n.469-4A>G)
c.266-4A>G
dbSNP gnomAD v2 gnomAD v4
1g.168293141C>ACA645520094TBX19c.469-3C>A (n.469-3C>A)
c.266-3C>A
gnomAD v4 COSMIC
1g.168293141C>TCA2574084057TBX19c.469-3C>T (n.469-3C>T)
c.266-3C>T
gnomAD v4
1g.168293142A>CCA343106828TBX19c.469-2A>C (n.469-2A>C)
c.266-2A>C
1g.168293142A>GCA343106829TBX19c.469-2A>G (n.469-2A>G)
c.266-2A>G
1g.168293142A>TCA343106830TBX19c.469-2A>T (n.469-2A>T)
c.266-2A>T
1g.168293143G>ACA1230510TBX19c.469-1G>A (n.469-1G>A)
c.266-1G>A
dbSNP ExAC gnomAD v2
1g.168293143G>CCA343106831TBX19c.469-1G>C (n.469-1G>C)
c.266-1G>C
COSMIC
1g.168293143G=CA1205614125TBX19c.469-1G= (n.469-1G=)
c.266-1G=
1g.168293143G>TCA343106832TBX19c.469-1G>T (n.469-1G>T)
c.266-1G>T
1g.168293144A>CCA343106834TBX19c.469A>C (p.Ile157Leu)
c.266A>C
1g.168293144A>GCA343106835TBX19c.469A>G (p.Ile157Val)
c.266A>G
1g.168293144A>TCA343106833TBX19c.469A>T (p.Ile157Leu)
c.266A>T
1g.168293145T>ACA343106837TBX19c.470T>A (p.Ile157Lys)
c.267T>A
1g.168293145T>CCA343106836TBX19c.470T>C (p.Ile157Thr)
c.267T>C
gnomAD v4
1g.168293145T>GCA343106838TBX19c.470T>G (p.Ile157Arg)
c.267T>G
1g.168293146A>CCA421716345TBX19c.471A>C (p.Ile157=)
c.268A>C
1g.168293146A>GCA343106839TBX19c.471A>G (p.Ile157Met)
c.268A>G
1g.168293146A>TCA421716346TBX19c.471A>T (p.Ile157=)
c.268A>T
1g.168293147A=CA1205614126TBX19c.472A= (p.Met158=)
c.269A=
1g.168293147A>CCA343106841TBX19c.472A>C (p.Met158Leu)
c.269A>C
1g.168293147A>GCA343106840TBX19c.472A>G (p.Met158Val)
c.269A>G
dbSNP gnomAD v2 gnomAD v4
1g.168293147A>TCA343106842TBX19c.472A>T (p.Met158Leu)
c.269A>T
1g.168293148T>ACA343106843TBX19c.473T>A (p.Met158Lys)
c.270T>A
1g.168293148T>CCA31493281TBX19c.473T>C (p.Met158Thr)
c.270T>C
dbSNP gnomAD v4
1g.168293148T>GCA343106844TBX19c.473T>G (p.Met158Arg)
c.270T>G
1g.168293148T=CA1205614127TBX19c.473T= (p.Met158=)
c.270T=
1g.168293149G>ACA1230511TBX19c.474G>A (p.Met158Ile)
c.271G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.168293149G>CCA343106845TBX19c.474G>C (p.Met158Ile)
c.271G>C
1g.168293149G=CA1205614128TBX19c.474G= (p.Met158=)
c.271G=
1g.168293149G>TCA343106846TBX19c.474G>T (p.Met158Ile)
c.271G>T
1g.168293150T>ACA343106847TBX19c.475T>A (p.Leu159Met)
c.272T>A
dbSNP
1g.168293150T>CCA421716350TBX19c.475T>C (p.Leu159=)
c.272T>C
1g.168293150T>GCA343106848TBX19c.475T>G (p.Leu159Val)
c.272T>G
1g.168293150T=CA1205614129TBX19c.475T= (p.Leu159=)
c.272T=
1g.168293151T>ACA343106849TBX19c.476T>A (p.Leu159Ter)
c.273T>A
1g.168293151T>CCA343106850TBX19c.476T>C (p.Leu159Ser)
c.273T>C
1g.168293151T>GCA343106851TBX19c.476T>G (p.Leu159Trp)
c.273T>G
1g.168293152G>ACA421716351TBX19c.477G>A (p.Leu159=)
c.274G>A
1g.168293152G>CCA343106852TBX19c.477G>C (p.Leu159Phe)
c.274G>C
ClinVar dbSNP
1g.168293152G=CA1205614130TBX19c.477G= (p.Leu159=)
c.274G=
1g.168293152G>TCA343106853TBX19c.477G>T (p.Leu159Phe)
c.274G>T
1g.168293153A>CCA343106854TBX19c.478A>C (p.Asn160His)
c.275A>C
1g.168293153A>GCA343106856TBX19c.478A>G (p.Asn160Asp)
c.275A>G
1g.168293153A>TCA343106855TBX19c.478A>T (p.Asn160Tyr)
c.275A>T
1g.168293154A>CCA343106857TBX19c.479A>C (p.Asn160Thr)
c.276A>C
1g.168293154A>GCA343106858TBX19c.479A>G (p.Asn160Ser)
c.276A>G
1g.168293154A>TCA343106859TBX19c.479A>T (p.Asn160Ile)
c.276A>T
1g.168293155T>ACA343106860TBX19c.480T>A (p.Asn160Lys)
c.277T>A
1g.168293155T>CCA421716354TBX19c.480T>C (p.Asn160=)
c.277T>C
1g.168293155T>GCA343106861TBX19c.480T>G (p.Asn160Lys)
c.277T>G
1g.168293156T>ACA343106862TBX19c.481T>A (p.Ser161Thr)
c.278T>A
1g.168293156T>CCA343106863TBX19c.481T>C (p.Ser161Pro)
c.278T>C
1g.168293156T>GCA343106864TBX19c.481T>G (p.Ser161Ala)
c.278T>G
1g.168293157C>ACA343106865TBX19c.482C>A (p.Ser161Tyr)
c.279C>A
gnomAD v4 COSMIC
1g.168293157C>GCA343106866TBX19c.482C>G (p.Ser161Cys)
c.279C>G
gnomAD v4
1g.168293157C>TCA343106867TBX19c.482C>T (p.Ser161Phe)
c.279C>T
1g.168293158T>ACA421716356TBX19c.483T>A (p.Ser161=)
c.280T>A
1g.168293158T>CCA421716357TBX19c.483T>C (p.Ser161=)
c.280T>C
1g.168293158T>GCA1230512TBX19c.483T>G (p.Ser161=)
c.280T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.168293158T=CA1143360414TBX19c.483T= (p.Ser161=)
c.280T=
1g.168293159C>ACA343106869TBX19c.484C>A (p.Leu162Met)
c.281C>A
1g.168293159C=CA1143611398TBX19c.484C= (p.Leu162=)
c.281C=
1g.168293159C>GCA343106868TBX19c.484C>G (p.Leu162Val)
c.281C>G
1g.168293159C>TCA1230513TBX19c.484C>T (p.Leu162=)
c.281C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.168293160T>ACA343106870TBX19c.485T>A (p.Leu162Gln)
c.282T>A
1g.168293160T>CCA343106871TBX19c.485T>C (p.Leu162Pro)
c.282T>C
1g.168293160T>GCA343106872TBX19c.485T>G (p.Leu162Arg)
c.282T>G
1g.168293162_168293171delCA2574084058TBX19c.487_496del (p.His163AsnfsTer6)
c.284_293del
1g.168293161G>ACA421716359TBX19c.486G>A (p.Leu162=)
c.283G>A
1g.168293161G>CCA421716360TBX19c.486G>C (p.Leu162=)
c.283G>C
1g.168293161G>TCA421716361TBX19c.486G>T (p.Leu162=)
c.283G>T
1g.168293162C>ACA343106873TBX19c.487C>A (p.His163Asn)
c.284C>A
dbSNP COSMIC
1g.168293162C=CA1205614131TBX19c.487C= (p.His163=)
c.284C=
1g.168293162C>GCA343106874TBX19c.487C>G (p.His163Asp)
c.284C>G
1g.168293162C>TCA343106875TBX19c.487C>T (p.His163Tyr)
c.284C>T
dbSNP gnomAD v2 gnomAD v4
1g.168293163A=CA1205614132TBX19c.488A= (p.His163=)
c.285A=
1g.168293163A>CCA343106876TBX19c.488A>C (p.His163Pro)
c.285A>C
1g.168293163A>GCA343106877TBX19c.488A>G (p.His163Arg)
c.285A>G
1g.168293163A>TCA1230514TBX19c.488A>T (p.His163Leu)
c.285A>T
dbSNP ExAC gnomAD v2

Number of alleles fetched