| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.120788801C>A | CA369133753 | TSPAN12 | c.709G>T (p.Ala237Ser) c.688G>T (n.688G>T) c.634G>T (p.Ala212Ser) | |
| 7 | g.120788801C= | CA1738876480 | TSPAN12 | c.709G= (p.Ala237=) c.688G= (n.688G=) c.634G= (p.Ala212=) | |
| 7 | g.120788801C>G | CA251420 | TSPAN12 | c.709G>C (p.Ala237Pro) c.688G>C (n.688G>C) c.634G>C (p.Ala212Pro) | ClinVar dbSNP |
| 7 | g.120788801C>T | CA369133754 | TSPAN12 | c.709G>A (p.Ala237Thr) c.688G>A (n.688G>A) c.634G>A (p.Ala212Thr) | dbSNP |
| 7 | g.120788802C>A | CA457393700 | TSPAN12 | c.708G>T (p.Leu236=) c.687G>T (n.687G>T) c.633G>T (p.Leu211=) | |
| 7 | g.120788802C>G | CA457393701 | TSPAN12 | c.708G>C (p.Leu236=) c.687G>C (n.687G>C) c.633G>C (p.Leu211=) | |
| 7 | g.120788802C>T | CA457393702 | TSPAN12 | c.708G>A (p.Leu236=) c.687G>A (n.687G>A) c.633G>A (p.Leu211=) | |
| 7 | g.120788803A>C | CA369133755 | TSPAN12 | c.707T>G (p.Leu236Arg) c.686T>G (n.686T>G) c.632T>G (p.Leu211Arg) | |
| 7 | g.120788803A>G | CA369133756 | TSPAN12 | c.707T>C (p.Leu236Pro) c.686T>C (n.686T>C) c.632T>C (p.Leu211Pro) | |
| 7 | g.120788803A>T | CA369133757 | TSPAN12 | c.707T>A (p.Leu236Gln) c.686T>A (n.686T>A) c.632T>A (p.Leu211Gln) | |
| 7 | g.120788804G>A | CA457393705 | TSPAN12 | c.706C>T (p.Leu236=) c.685C>T (n.685C>T) c.631C>T (p.Leu211=) | |
| 7 | g.120788804G>C | CA369133758 | TSPAN12 | c.706C>G (p.Leu236Val) c.685C>G (n.685C>G) c.631C>G (p.Leu211Val) | |
| 7 | g.120788804G>T | CA369133759 | TSPAN12 | c.706C>A (p.Leu236Met) c.685C>A (n.685C>A) c.631C>A (p.Leu211Met) | |
| 7 | g.120788805G>A | CA457393706 | TSPAN12 | c.705C>T (p.Ile235=) c.684C>T (n.684C>T) c.630C>T (p.Ile210=) | |
| 7 | g.120788805G>C | CA369133760 | TSPAN12 | c.705C>G (p.Ile235Met) c.684C>G (n.684C>G) c.630C>G (p.Ile210Met) | |
| 7 | g.120788805G>T | CA457393707 | TSPAN12 | c.705C>A (p.Ile235=) c.684C>A (n.684C>A) c.630C>A (p.Ile210=) | |
| 7 | g.120788806A>C | CA369133761 | TSPAN12 | c.704T>G (p.Ile235Ser) c.683T>G (n.683T>G) c.629T>G (p.Ile210Ser) | |
| 7 | g.120788806A>G | CA369133762 | TSPAN12 | c.704T>C (p.Ile235Thr) c.683T>C (n.683T>C) c.629T>C (p.Ile210Thr) | |
| 7 | g.120788806A>T | CA369133763 | TSPAN12 | c.704T>A (p.Ile235Asn) c.683T>A (n.683T>A) c.629T>A (p.Ile210Asn) | |
| 7 | g.120788807T>A | CA369133766 | TSPAN12 | c.703A>T (p.Ile235Phe) c.682A>T (n.682A>T) c.628A>T (p.Ile210Phe) | |
| 7 | g.120788807T>C | CA369133764 | TSPAN12 | c.703A>G (p.Ile235Val) c.682A>G (n.682A>G) c.628A>G (p.Ile210Val) | |
| 7 | g.120788807T>G | CA369133765 | TSPAN12 | c.703A>C (p.Ile235Leu) c.682A>C (n.682A>C) c.628A>C (p.Ile210Leu) | |
| 7 | g.120788809del | CA2684641449 | TSPAN12 | c.703del (p.Ile235SerfsTer4) c.682del (n.682del) c.628del (p.Ile210SerfsTer4) | gnomAD v4 |
| 7 | g.120788808T>A | CA369133767 | TSPAN12 | c.702A>T (p.Gln234His) c.681A>T (n.681A>T) c.627A>T (p.Gln209His) | |
| 7 | g.120788808T>C | CA457393710 | TSPAN12 | c.702A>G (p.Gln234=) c.681A>G (n.681A>G) c.627A>G (p.Gln209=) | |
| 7 | g.120788808T>G | CA4453819 | TSPAN12 | c.702A>C (p.Gln234His) c.681A>C (n.681A>C) c.627A>C (p.Gln209His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.120788808T= | CA1738876486 | TSPAN12 | c.702A= (p.Gln234=) c.681A= (n.681A=) c.627A= (p.Gln209=) | |
| 7 | g.120788809T>A | CA369133768 | TSPAN12 | c.701A>T (p.Gln234Leu) c.680A>T (n.680A>T) c.626A>T (p.Gln209Leu) | |
| 7 | g.120788809T>C | CA369133769 | TSPAN12 | c.701A>G (p.Gln234Arg) c.680A>G (n.680A>G) c.626A>G (p.Gln209Arg) | |
| 7 | g.120788809T>G | CA369133770 | TSPAN12 | c.701A>C (p.Gln234Pro) c.680A>C (n.680A>C) c.626A>C (p.Gln209Pro) | |
| 7 | g.120788810G>A | CA369133771 | TSPAN12 | c.700C>T (p.Gln234Ter) c.679C>T (n.679C>T) c.625C>T (p.Gln209Ter) | ClinVar dbSNP |
| 7 | g.120788810G>C | CA369133772 | TSPAN12 | c.700C>G (p.Gln234Glu) c.679C>G (n.679C>G) c.625C>G (p.Gln209Glu) | gnomAD v4 |
| 7 | g.120788810G>T | CA369133773 | TSPAN12 | c.700C>A (p.Gln234Lys) c.679C>A (n.679C>A) c.625C>A (p.Gln209Lys) | ClinVar dbSNP |
| 7 | g.120788811T>A | CA457393711 | TSPAN12 | c.699A>T (p.Thr233=) c.678A>T (n.678A>T) c.624A>T (p.Thr208=) | |
| 7 | g.120788811T>C | CA457393713 | TSPAN12 | c.699A>G (p.Thr233=) c.678A>G (n.678A>G) c.624A>G (p.Thr208=) | gnomAD v4 |
| 7 | g.120788811T>G | CA457393712 | TSPAN12 | c.699A>C (p.Thr233=) c.678A>C (n.678A>C) c.624A>C (p.Thr208=) | |
| 7 | g.120788812G>A | CA369133774 | TSPAN12 | c.698C>T (p.Thr233Ile) c.677C>T (n.677C>T) c.623C>T (p.Thr208Ile) | |
| 7 | g.120788812G>C | CA369133775 | TSPAN12 | c.698C>G (p.Thr233Arg) c.677C>G (n.677C>G) c.623C>G (p.Thr208Arg) | |
| 7 | g.120788812G>T | CA369133776 | TSPAN12 | c.698C>A (p.Thr233Lys) c.677C>A (n.677C>A) c.623C>A (p.Thr208Lys) | |
| 7 | g.120788813T>A | CA369133779 | TSPAN12 | c.697A>T (p.Thr233Ser) c.676A>T (n.676A>T) c.622A>T (p.Thr208Ser) | |
| 7 | g.120788813T>C | CA369133778 | TSPAN12 | c.697A>G (p.Thr233Ala) c.676A>G (n.676A>G) c.622A>G (p.Thr208Ala) | dbSNP |
| 7 | g.120788813T>G | CA369133777 | TSPAN12 | c.697A>C (p.Thr233Pro) c.676A>C (n.676A>C) c.622A>C (p.Thr208Pro) | |
| 7 | g.120788813T= | CA1738876489 | TSPAN12 | c.697A= (p.Thr233=) c.676A= (n.676A=) c.622A= (p.Thr208=) | |
| 7 | g.120788814C>A | CA457393714 | TSPAN12 | c.696G>T (p.Val232=) c.675G>T (n.675G>T) c.621G>T (p.Val207=) | |
| 7 | g.120788814C>G | CA457393715 | TSPAN12 | c.696G>C (p.Val232=) c.675G>C (n.675G>C) c.621G>C (p.Val207=) | |
| 7 | g.120788814C>T | CA457393716 | TSPAN12 | c.696G>A (p.Val232=) c.675G>A (n.675G>A) c.621G>A (p.Val207=) | gnomAD v4 |
| 7 | g.120788815del | CA2695208541 | TSPAN12 | c.695del (p.Val232GlyfsTer7) c.674del (n.674del) c.620del (p.Val207GlyfsTer7) | |
| 7 | g.120788815A= | CA1738876495 | TSPAN12 | c.695T= (p.Val232=) c.674T= (n.674T=) c.620T= (p.Val207=) | |
| 7 | g.120788815A>C | CA369133780 | TSPAN12 | c.695T>G (p.Val232Gly) c.674T>G (n.674T>G) c.620T>G (p.Val207Gly) | |
| 7 | g.120788815A>G | CA4453820 | TSPAN12 | c.695T>C (p.Val232Ala) c.674T>C (n.674T>C) c.620T>C (p.Val207Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |