Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.14139202G>A | CA056219 | TMEM43 | c.*935G>A (n.*935G>A) c.905G>A (p.Arg302Lys) n.232G>A c.141G>A c.800G>A (p.Arg267Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14139202G>C | CA056225 | TMEM43 | c.*935G>C (n.*935G>C) c.905G>C (p.Arg302Thr) n.232G>C c.141G>C c.800G>C (p.Arg267Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139202G= | CA1346972741 | TMEM43 | c.*935G= (n.*935G=) c.905G= (p.Arg302=) n.232G= c.141G= c.800G= (p.Arg267=) | |
3 | g.14139202G>T | CA351536120 | TMEM43 | c.*935G>T (n.*935G>T) c.905G>T (p.Arg302Met) n.232G>T c.141G>T c.800G>T (p.Arg267Met) | ClinVar |
3 | g.14139203G>A | CA432552529 | TMEM43 | c.*936G>A (n.*936G>A) c.906G>A (p.Arg302=) n.233G>A c.142G>A c.801G>A (p.Arg267=) | |
3 | g.14139203G>C | CA351536121 | TMEM43 | c.*936G>C (n.*936G>C) c.906G>C (p.Arg302Ser) n.233G>C c.142G>C c.801G>C (p.Arg267Ser) | |
3 | g.14139203G>T | CA351536122 | TMEM43 | c.*936G>T (n.*936G>T) c.906G>T (p.Arg302Ser) n.233G>T c.142G>T c.801G>T (p.Arg267Ser) | |
3 | g.14139204A= | CA1346972742 | TMEM43 | c.*937A= (n.*937A=) c.907A= (p.Ser303=) n.234A= c.143A= c.802A= (p.Ser268=) | |
3 | g.14139204A>C | CA351536123 | TMEM43 | c.*937A>C (n.*937A>C) c.907A>C (p.Ser303Arg) n.234A>C c.143A>C c.802A>C (p.Ser268Arg) | |
3 | g.14139204A>G | CA351536124 | TMEM43 | c.*937A>G (n.*937A>G) c.907A>G (p.Ser303Gly) n.234A>G c.143A>G c.802A>G (p.Ser268Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14139204A>T | CA351536125 | TMEM43 | c.*937A>T (n.*937A>T) c.907A>T (p.Ser303Cys) n.234A>T c.143A>T c.802A>T (p.Ser268Cys) | |
3 | g.14139205G>A | CA69733935 | TMEM43 | c.*938G>A (n.*938G>A) c.908G>A (p.Ser303Asn) n.235G>A c.144G>A c.803G>A (p.Ser268Asn) | ClinVar dbSNP |
3 | g.14139205G>C | CA351536126 | TMEM43 | c.*938G>C (n.*938G>C) c.908G>C (p.Ser303Thr) n.235G>C c.144G>C c.803G>C (p.Ser268Thr) | |
3 | g.14139205G= | CA1346972743 | TMEM43 | c.*938G= (n.*938G=) c.908G= (p.Ser303=) n.235G= c.144G= c.803G= (p.Ser268=) | |
3 | g.14139205G>T | CA351536127 | TMEM43 | c.*938G>T (n.*938G>T) c.908G>T (p.Ser303Ile) n.235G>T c.144G>T c.803G>T (p.Ser268Ile) | |
3 | g.14139205_14139206delinsAT | CA2580068488 | TMEM43 | c.*938_*939delinsAT (n.*938_*939delinsAT) c.908_909delinsAT (p.Ser303Asn) n.235_236delinsAT c.144_145delinsAT c.803_804delinsAT (p.Ser268Asn) | ClinVar |
3 | g.14139206C>A | CA351536128 | TMEM43 | c.*939C>A (n.*939C>A) c.909C>A (p.Ser303Arg) n.236C>A c.145C>A c.804C>A (p.Ser268Arg) | |
3 | g.14139206C= | CA1346972744 | TMEM43 | c.*939C= (n.*939C=) c.909C= (p.Ser303=) n.236C= c.145C= c.804C= (p.Ser268=) | |
3 | g.14139206C>G | CA351536129 | TMEM43 | c.*939C>G (n.*939C>G) c.909C>G (p.Ser303Arg) n.236C>G c.145C>G c.804C>G (p.Ser268Arg) | |
3 | g.14139206C>T | CA024796 | TMEM43 | c.*939C>T (n.*939C>T) c.909C>T (p.Ser303=) n.236C>T c.145C>T c.804C>T (p.Ser268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139207A>C | CA351536130 | TMEM43 | c.*940A>C (n.*940A>C) c.910A>C (p.Asn304His) n.237A>C c.146A>C c.805A>C (p.Asn269His) | |
3 | g.14139207A>G | CA351536131 | TMEM43 | c.*940A>G (n.*940A>G) c.910A>G (p.Asn304Asp) n.237A>G c.146A>G c.805A>G (p.Asn269Asp) | |
3 | g.14139207A>T | CA351536132 | TMEM43 | c.*940A>T (n.*940A>T) c.910A>T (p.Asn304Tyr) n.237A>T c.146A>T c.805A>T (p.Asn269Tyr) | |
3 | g.14139208A>C | CA351536133 | TMEM43 | c.*941A>C (n.*941A>C) c.911A>C (p.Asn304Thr) n.238A>C c.147A>C c.806A>C (p.Asn269Thr) | |
3 | g.14139208A>G | CA351536134 | TMEM43 | c.*941A>G (n.*941A>G) c.911A>G (p.Asn304Ser) n.238A>G c.147A>G c.806A>G (p.Asn269Ser) | |
3 | g.14139208A>T | CA351536135 | TMEM43 | c.*941A>T (n.*941A>T) c.911A>T (p.Asn304Ile) n.238A>T c.147A>T c.806A>T (p.Asn269Ile) | gnomAD v4 |
3 | g.14139209C>A | CA351536136 | TMEM43 | c.*942C>A (n.*942C>A) c.912C>A (p.Asn304Lys) n.239C>A c.148C>A c.807C>A (p.Asn269Lys) | gnomAD v4 |
3 | g.14139209C>G | CA351536137 | TMEM43 | c.*942C>G (n.*942C>G) c.912C>G (p.Asn304Lys) n.239C>G c.148C>G c.807C>G (p.Asn269Lys) | |
3 | g.14139209C>T | CA432552536 | TMEM43 | c.*942C>T (n.*942C>T) c.912C>T (p.Asn304=) n.239C>T c.148C>T c.807C>T (p.Asn269=) | gnomAD v4 |
3 | g.14139210T>A | CA351536138 | TMEM43 | c.*943T>A (n.*943T>A) c.913T>A (p.Ser305Thr) n.240T>A c.149T>A c.808T>A (p.Ser270Thr) | COSMIC |
3 | g.14139210T>C | CA351536139 | TMEM43 | c.*943T>C (n.*943T>C) c.913T>C (p.Ser305Pro) n.240T>C c.149T>C c.808T>C (p.Ser270Pro) | |
3 | g.14139210T>G | CA351536140 | TMEM43 | c.*943T>G (n.*943T>G) c.913T>G (p.Ser305Ala) n.240T>G c.149T>G c.808T>G (p.Ser270Ala) | |
3 | g.14139211C>A | CA056247 | TMEM43 | c.*944C>A (n.*944C>A) c.914C>A (p.Ser305Tyr) n.241C>A c.150C>A c.809C>A (p.Ser270Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14139211C= | CA1346972745 | TMEM43 | c.*944C= (n.*944C=) c.914C= (p.Ser305=) n.241C= c.150C= c.809C= (p.Ser270=) | |
3 | g.14139211C>G | CA351536142 | TMEM43 | c.*944C>G (n.*944C>G) c.914C>G (p.Ser305Cys) n.241C>G c.150C>G c.809C>G (p.Ser270Cys) | |
3 | g.14139211C>T | CA351536141 | TMEM43 | c.*944C>T (n.*944C>T) c.914C>T (p.Ser305Phe) n.241C>T c.150C>T c.809C>T (p.Ser270Phe) | |
3 | g.14139212C>A | CA432552540 | TMEM43 | c.*945C>A (n.*945C>A) c.915C>A (p.Ser305=) n.242C>A c.151C>A c.810C>A (p.Ser270=) | gnomAD v4 |
3 | g.14139212C>G | CA432552543 | TMEM43 | c.*945C>G (n.*945C>G) c.915C>G (p.Ser305=) n.242C>G c.151C>G c.810C>G (p.Ser270=) | |
3 | g.14139212C>T | CA432552544 | TMEM43 | c.*945C>T (n.*945C>T) c.915C>T (p.Ser305=) n.242C>T c.151C>T c.810C>T (p.Ser270=) | |
3 | g.14139213A>C | CA351536146 | TMEM43 | c.*946A>C (n.*946A>C) c.916A>C (p.Met306Leu) n.243A>C c.152A>C c.811A>C (p.Met271Leu) | gnomAD v4 |
3 | g.14139213A>G | CA351536144 | TMEM43 | c.*946A>G (n.*946A>G) c.916A>G (p.Met306Val) n.243A>G c.152A>G c.811A>G (p.Met271Val) | |
3 | g.14139213A>T | CA351536147 | TMEM43 | c.*946A>T (n.*946A>T) c.916A>T (p.Met306Leu) n.243A>T c.152A>T c.811A>T (p.Met271Leu) | |
3 | g.14139214T>A | CA351536148 | TMEM43 | c.*947T>A (n.*947T>A) c.917T>A (p.Met306Lys) n.244T>A c.153T>A c.812T>A (p.Met271Lys) | |
3 | g.14139214T>C | CA351536149 | TMEM43 | c.*947T>C (n.*947T>C) c.917T>C (p.Met306Thr) n.244T>C c.153T>C c.812T>C (p.Met271Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.14139214T>G | CA351536150 | TMEM43 | c.*947T>G (n.*947T>G) c.917T>G (p.Met306Arg) n.244T>G c.153T>G c.812T>G (p.Met271Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14139214T= | CA1346972747 | TMEM43 | c.*947T= (n.*947T=) c.917T= (p.Met306=) n.244T= c.153T= c.812T= (p.Met271=) | |
3 | g.14139214_14139215delinsCT | CA658657277 | TMEM43 | c.*947_*948delinsCT (n.*947_*948delinsCT) c.917_918delinsCT (p.Met306Thr) n.244_245delinsCT c.153_154delinsCT c.812_813delinsCT (p.Met271Thr) | ClinVar dbSNP |
3 | g.14139214_14139215delinsTG | CA1346972746 | TMEM43 | c.*947_*948delinsTG (n.*947_*948delinsTG) c.917_918delinsTG (p.Met306=) n.244_245delinsTG c.153_154delinsTG c.812_813delinsTG (p.Met271=) | |
3 | g.14139215G>A | CA351536151 | TMEM43 | c.*948G>A (n.*948G>A) c.918G>A (p.Met306Ile) n.245G>A c.154G>A c.813G>A (p.Met271Ile) | |
3 | g.14139215G>C | CA351536152 | TMEM43 | c.*948G>C (n.*948G>C) c.918G>C (p.Met306Ile) n.245G>C c.154G>C c.813G>C (p.Met271Ile) |