| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.29702823C>A | CA506986995 | C19orf12 | c.315G>T (p.Val105=) n.706G>T c.123G>T (p.Val41=) c.348G>T (p.Val116=) c.290+25G>T (n.290+25G>T) c.477G>T (p.Val159=) | |
| 19 | g.29702823C>G | CA506986997 | C19orf12 | c.315G>C (p.Val105=) n.706G>C c.123G>C (p.Val41=) c.348G>C (p.Val116=) c.290+25G>C (n.290+25G>C) c.477G>C (p.Val159=) | |
| 19 | g.29702823C>T | CA506986999 | C19orf12 | c.315G>A (p.Val105=) n.706G>A c.123G>A (p.Val41=) c.348G>A (p.Val116=) c.290+25G>A (n.290+25G>A) c.477G>A (p.Val159=) | |
| 19 | g.29702824A>C | CA405142773 | C19orf12 | c.314T>G (p.Val105Gly) n.705T>G c.122T>G (p.Val41Gly) c.347T>G (p.Val116Gly) c.290+24T>G (n.290+24T>G) c.476T>G (p.Val159Gly) | |
| 19 | g.29702824A>G | CA405142774 | C19orf12 | c.314T>C (p.Val105Ala) n.705T>C c.122T>C (p.Val41Ala) c.347T>C (p.Val116Ala) c.290+24T>C (n.290+24T>C) c.476T>C (p.Val159Ala) | |
| 19 | g.29702824A>T | CA405142776 | C19orf12 | c.314T>A (p.Val105Glu) n.705T>A c.122T>A (p.Val41Glu) c.347T>A (p.Val116Glu) c.290+24T>A (n.290+24T>A) c.476T>A (p.Val159Glu) | |
| 19 | g.29702825C>A | CA9351886 | C19orf12 | c.313G>T (p.Val105Leu) n.704G>T c.121G>T (p.Val41Leu) c.346G>T (p.Val116Leu) c.290+23G>T (n.290+23G>T) c.475G>T (p.Val159Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702825C= | CA2330913560 | C19orf12 | c.313G= (p.Val105=) n.704G= c.121G= (p.Val41=) c.346G= (p.Val116=) c.290+23G= (n.290+23G=) c.475G= (p.Val159=) | |
| 19 | g.29702825C>G | CA405142780 | C19orf12 | c.313G>C (p.Val105Leu) n.704G>C c.121G>C (p.Val41Leu) c.346G>C (p.Val116Leu) c.290+23G>C (n.290+23G>C) c.475G>C (p.Val159Leu) | |
| 19 | g.29702825C>T | CA9351885 | C19orf12 | c.313G>A (p.Val105Met) n.704G>A c.121G>A (p.Val41Met) c.346G>A (p.Val116Met) c.290+23G>A (n.290+23G>A) c.475G>A (p.Val159Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702826G>A | CA9351887 | C19orf12 | c.312C>T (p.Ala104=) n.703C>T c.120C>T (p.Ala40=) c.345C>T (p.Ala115=) c.290+22C>T (n.290+22C>T) c.474C>T (p.Ala158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702826G>C | CA506987018 | C19orf12 | c.312C>G (p.Ala104=) n.703C>G c.120C>G (p.Ala40=) c.345C>G (p.Ala115=) c.290+22C>G (n.290+22C>G) c.474C>G (p.Ala158=) | |
| 19 | g.29702826G= | CA2330913561 | C19orf12 | c.312C= (p.Ala104=) n.703C= c.120C= (p.Ala40=) c.345C= (p.Ala115=) c.290+22C= (n.290+22C=) c.474C= (p.Ala158=) | |
| 19 | g.29702826G>T | CA506987015 | C19orf12 | c.312C>A (p.Ala104=) n.703C>A c.120C>A (p.Ala40=) c.345C>A (p.Ala115=) c.290+22C>A (n.290+22C>A) c.474C>A (p.Ala158=) | |
| 19 | g.29702827G>A | CA405142785 | C19orf12 | c.311C>T (p.Ala104Val) n.702C>T c.119C>T (p.Ala40Val) c.344C>T (p.Ala115Val) c.290+21C>T (n.290+21C>T) c.473C>T (p.Ala158Val) | |
| 19 | g.29702827G>C | CA405142786 | C19orf12 | c.311C>G (p.Ala104Gly) n.702C>G c.119C>G (p.Ala40Gly) c.344C>G (p.Ala115Gly) c.290+21C>G (n.290+21C>G) c.473C>G (p.Ala158Gly) | |
| 19 | g.29702827G>T | CA405142788 | C19orf12 | c.311C>A (p.Ala104Asp) n.702C>A c.119C>A (p.Ala40Asp) c.344C>A (p.Ala115Asp) c.290+21C>A (n.290+21C>A) c.473C>A (p.Ala158Asp) | |
| 19 | g.29702828C>A | CA405142791 | C19orf12 | c.310G>T (p.Ala104Ser) n.701G>T c.118G>T (p.Ala40Ser) c.343G>T (p.Ala115Ser) c.290+20G>T (n.290+20G>T) c.472G>T (p.Ala158Ser) | |
| 19 | g.29702828C= | CA2330913562 | C19orf12 | c.310G= (p.Ala104=) n.701G= c.118G= (p.Ala40=) c.343G= (p.Ala115=) c.290+20G= (n.290+20G=) c.472G= (p.Ala158=) | |
| 19 | g.29702828C>G | CA405142793 | C19orf12 | c.310G>C (p.Ala104Pro) n.701G>C c.118G>C (p.Ala40Pro) c.343G>C (p.Ala115Pro) c.290+20G>C (n.290+20G>C) c.472G>C (p.Ala158Pro) | |
| 19 | g.29702828C>T | CA405142795 | C19orf12 | c.310G>A (p.Ala104Thr) n.701G>A c.118G>A (p.Ala40Thr) c.343G>A (p.Ala115Thr) c.290+20G>A (n.290+20G>A) c.472G>A (p.Ala158Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702829G>A | CA9351888 | C19orf12 | c.309C>T (p.Asp103=) n.700C>T c.117C>T (p.Asp39=) c.342C>T (p.Asp114=) c.290+19C>T (n.290+19C>T) c.471C>T (p.Asp157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702829G>C | CA405142799 | C19orf12 | c.309C>G (p.Asp103Glu) n.700C>G c.117C>G (p.Asp39Glu) c.342C>G (p.Asp114Glu) c.290+19C>G (n.290+19C>G) c.471C>G (p.Asp157Glu) | |
| 19 | g.29702829G= | CA2330913563 | C19orf12 | c.309C= (p.Asp103=) n.700C= c.117C= (p.Asp39=) c.342C= (p.Asp114=) c.290+19C= (n.290+19C=) c.471C= (p.Asp157=) | |
| 19 | g.29702829G>T | CA405142801 | C19orf12 | c.309C>A (p.Asp103Glu) n.700C>A c.117C>A (p.Asp39Glu) c.342C>A (p.Asp114Glu) c.290+19C>A (n.290+19C>A) c.471C>A (p.Asp157Glu) | |
| 19 | g.29702830T>A | CA405142805 | C19orf12 | c.308A>T (p.Asp103Val) n.699A>T c.116A>T (p.Asp39Val) c.341A>T (p.Asp114Val) c.290+18A>T (n.290+18A>T) c.470A>T (p.Asp157Val) | |
| 19 | g.29702830T>C | CA405142807 | C19orf12 | c.308A>G (p.Asp103Gly) n.699A>G c.116A>G (p.Asp39Gly) c.341A>G (p.Asp114Gly) c.290+18A>G (n.290+18A>G) c.470A>G (p.Asp157Gly) | |
| 19 | g.29702830T>G | CA405142809 | C19orf12 | c.308A>C (p.Asp103Ala) n.699A>C c.116A>C (p.Asp39Ala) c.341A>C (p.Asp114Ala) c.290+18A>C (n.290+18A>C) c.470A>C (p.Asp157Ala) | |
| 19 | g.29702831C>A | CA405142815 | C19orf12 | c.307G>T (p.Asp103Tyr) n.698G>T c.115G>T (p.Asp39Tyr) c.340G>T (p.Asp114Tyr) c.290+17G>T (n.290+17G>T) c.469G>T (p.Asp157Tyr) | |
| 19 | g.29702831C>G | CA405142818 | C19orf12 | c.307G>C (p.Asp103His) n.698G>C c.115G>C (p.Asp39His) c.340G>C (p.Asp114His) c.290+17G>C (n.290+17G>C) c.469G>C (p.Asp157His) | |
| 19 | g.29702831C>T | CA405142812 | C19orf12 | c.307G>A (p.Asp103Asn) n.698G>A c.115G>A (p.Asp39Asn) c.340G>A (p.Asp114Asn) c.290+17G>A (n.290+17G>A) c.469G>A (p.Asp157Asn) | |
| 19 | g.29702832C>A | CA506987051 | C19orf12 | c.306G>T (p.Thr102=) n.697G>T c.114G>T (p.Thr38=) c.339G>T (p.Thr113=) c.290+16G>T (n.290+16G>T) c.468G>T (p.Thr156=) | |
| 19 | g.29702832C= | CA2330913564 | C19orf12 | c.306G= (p.Thr102=) n.697G= c.114G= (p.Thr38=) c.339G= (p.Thr113=) c.290+16G= (n.290+16G=) c.468G= (p.Thr156=) | |
| 19 | g.29702832C>G | CA9351890 | C19orf12 | c.306G>C (p.Thr102=) n.697G>C c.114G>C (p.Thr38=) c.339G>C (p.Thr113=) c.290+16G>C (n.290+16G>C) c.468G>C (p.Thr156=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.29702832C>T | CA9351889 | C19orf12 | c.306G>A (p.Thr102=) n.697G>A c.114G>A (p.Thr38=) c.339G>A (p.Thr113=) c.290+16G>A (n.290+16G>A) c.468G>A (p.Thr156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702833G>A | CA9351891 | C19orf12 | c.305C>T (p.Thr102Met) n.696C>T c.113C>T (p.Thr38Met) c.338C>T (p.Thr113Met) c.290+15C>T (n.290+15C>T) c.467C>T (p.Thr156Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702833G>C | CA405142823 | C19orf12 | c.305C>G (p.Thr102Arg) n.696C>G c.113C>G (p.Thr38Arg) c.338C>G (p.Thr113Arg) c.290+15C>G (n.290+15C>G) c.467C>G (p.Thr156Arg) | |
| 19 | g.29702833G= | CA2330913565 | C19orf12 | c.305C= (p.Thr102=) n.696C= c.113C= (p.Thr38=) c.338C= (p.Thr113=) c.290+15C= (n.290+15C=) c.467C= (p.Thr156=) | |
| 19 | g.29702833G>T | CA405142825 | C19orf12 | c.305C>A (p.Thr102Lys) n.696C>A c.113C>A (p.Thr38Lys) c.338C>A (p.Thr113Lys) c.290+15C>A (n.290+15C>A) c.467C>A (p.Thr156Lys) | |
| 19 | g.29702833_29702835delinsTGTG | CA2580060375 | C19orf12 | c.303_305delinsCACA (p.Trp101CysfsTer?) n.694_696delinsCACA c.111_113delinsCACA (p.Trp37CysfsTer?) c.336_338delinsCACA (p.Trp112CysfsTer?) c.290+13_290+15delinsCACA (n.290+13_290+15delinsCACA) c.465_467delinsCACA (p.Trp155CysfsTer?) | |
| 19 | g.29702834T>A | CA405142832 | C19orf12 | c.304A>T (p.Thr102Ser) n.695A>T c.112A>T (p.Thr38Ser) c.337A>T (p.Thr113Ser) c.290+14A>T (n.290+14A>T) c.466A>T (p.Thr156Ser) | ClinVar gnomAD v4 |
| 19 | g.29702834T>C | CA405142827 | C19orf12 | c.304A>G (p.Thr102Ala) n.695A>G c.112A>G (p.Thr38Ala) c.337A>G (p.Thr113Ala) c.290+14A>G (n.290+14A>G) c.466A>G (p.Thr156Ala) | |
| 19 | g.29702834T>G | CA405142829 | C19orf12 | c.304A>C (p.Thr102Pro) n.695A>C c.112A>C (p.Thr38Pro) c.337A>C (p.Thr113Pro) c.290+14A>C (n.290+14A>C) c.466A>C (p.Thr156Pro) | |
| 19 | g.29702835C>A | CA405142834 | C19orf12 | c.303G>T (p.Trp101Cys) n.694G>T c.111G>T (p.Trp37Cys) c.336G>T (p.Trp112Cys) c.290+13G>T (n.290+13G>T) c.465G>T (p.Trp155Cys) | |
| 19 | g.29702835C= | CA2330913566 | C19orf12 | c.303G= (p.Trp101=) n.694G= c.111G= (p.Trp37=) c.336G= (p.Trp112=) c.290+13G= (n.290+13G=) c.465G= (p.Trp155=) | |
| 19 | g.29702835C>G | CA405142836 | C19orf12 | c.303G>C (p.Trp101Cys) n.694G>C c.111G>C (p.Trp37Cys) c.336G>C (p.Trp112Cys) c.290+13G>C (n.290+13G>C) c.465G>C (p.Trp155Cys) | |
| 19 | g.29702835C>T | CA405142838 | C19orf12 | c.303G>A (p.Trp101Ter) n.694G>A c.111G>A (p.Trp37Ter) c.336G>A (p.Trp112Ter) c.290+13G>A (n.290+13G>A) c.465G>A (p.Trp155Ter) | ClinVar dbSNP |
| 19 | g.29702836C>A | CA405142841 | C19orf12 | c.302G>T (p.Trp101Leu) n.693G>T c.110G>T (p.Trp37Leu) c.335G>T (p.Trp112Leu) c.290+12G>T (n.290+12G>T) c.464G>T (p.Trp155Leu) | |
| 19 | g.29702836C>G | CA405142842 | C19orf12 | c.302G>C (p.Trp101Ser) n.693G>C c.110G>C (p.Trp37Ser) c.335G>C (p.Trp112Ser) c.290+12G>C (n.290+12G>C) c.464G>C (p.Trp155Ser) | |
| 19 | g.29702836C>T | CA405142844 | C19orf12 | c.302G>A (p.Trp101Ter) n.693G>A c.110G>A (p.Trp37Ter) c.335G>A (p.Trp112Ter) c.290+12G>A (n.290+12G>A) c.464G>A (p.Trp155Ter) |