Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46709155C>A | CA352480567 | TMIE | c.241C>A (p.Arg81Ser) c.82C>A (p.Arg28Ser) c.139C>A (p.Arg47Ser) | |
3 | g.46709155C= | CA1362234556 | TMIE | c.241C= (p.Arg81=) c.82C= (p.Arg28=) c.139C= (p.Arg47=) | |
3 | g.46709155C>G | CA352480570 | TMIE | c.241C>G (p.Arg81Gly) c.82C>G (p.Arg28Gly) c.139C>G (p.Arg47Gly) | |
3 | g.46709155C>T | CA252745 | TMIE | c.241C>T (p.Arg81Cys) c.82C>T (p.Arg28Cys) c.139C>T (p.Arg47Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.46709156G>A | CA2357971 | TMIE | c.242G>A (p.Arg81His) c.83G>A (p.Arg28His) c.140G>A (p.Arg47His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709156G>C | CA352480572 | TMIE | c.242G>C (p.Arg81Pro) c.83G>C (p.Arg28Pro) c.140G>C (p.Arg47Pro) | |
3 | g.46709156G= | CA1362234557 | TMIE | c.242G= (p.Arg81=) c.83G= (p.Arg28=) c.140G= (p.Arg47=) | |
3 | g.46709156G>T | CA352480574 | TMIE | c.242G>T (p.Arg81Leu) c.83G>T (p.Arg28Leu) c.140G>T (p.Arg47Leu) | |
3 | g.46709157T>A | CA433459093 | TMIE | c.243T>A (p.Arg81=) c.84T>A (p.Arg28=) c.141T>A (p.Arg47=) | |
3 | g.46709157T>C | CA433459094 | TMIE | c.243T>C (p.Arg81=) c.84T>C (p.Arg28=) c.141T>C (p.Arg47=) | |
3 | g.46709157T>G | CA433459095 | TMIE | c.243T>G (p.Arg81=) c.84T>G (p.Arg28=) c.141T>G (p.Arg47=) | |
3 | g.46709158G>A | CA352480577 | TMIE | c.244G>A (p.Val82Met) c.85G>A (p.Val29Met) c.142G>A (p.Val48Met) | gnomAD v4 |
3 | g.46709158G>C | CA352480578 | TMIE | c.244G>C (p.Val82Leu) c.85G>C (p.Val29Leu) c.142G>C (p.Val48Leu) | |
3 | g.46709158G>T | CA352480581 | TMIE | c.244G>T (p.Val82Leu) c.85G>T (p.Val29Leu) c.142G>T (p.Val48Leu) | |
3 | g.46709159T>A | CA352480586 | TMIE | c.245T>A (p.Val82Glu) c.86T>A (p.Val29Glu) c.143T>A (p.Val48Glu) | |
3 | g.46709159T>C | CA352480587 | TMIE | c.245T>C (p.Val82Ala) c.86T>C (p.Val29Ala) c.143T>C (p.Val48Ala) | gnomAD v4 |
3 | g.46709159T>G | CA352480588 | TMIE | c.245T>G (p.Val82Gly) c.86T>G (p.Val29Gly) c.143T>G (p.Val48Gly) | |
3 | g.46709160G>A | CA433459098 | TMIE | c.246G>A (p.Val82=) c.87G>A (p.Val29=) c.144G>A (p.Val48=) | gnomAD v4 |
3 | g.46709160G>C | CA433459100 | TMIE | c.246G>C (p.Val82=) c.87G>C (p.Val29=) c.144G>C (p.Val48=) | |
3 | g.46709160G>T | CA433459099 | TMIE | c.246G>T (p.Val82=) c.87G>T (p.Val29=) c.144G>T (p.Val48=) | |
3 | g.46709161C>A | CA352480593 | TMIE | c.247C>A (p.Pro83Thr) c.88C>A (p.Pro30Thr) c.145C>A (p.Pro49Thr) | |
3 | g.46709161C= | CA1362234558 | TMIE | c.247C= (p.Pro83=) c.88C= (p.Pro30=) c.145C= (p.Pro49=) | |
3 | g.46709161C>G | CA352480594 | TMIE | c.247C>G (p.Pro83Ala) c.88C>G (p.Pro30Ala) c.145C>G (p.Pro49Ala) | |
3 | g.46709161C>T | CA10576623 | TMIE | c.247C>T (p.Pro83Ser) c.88C>T (p.Pro30Ser) c.145C>T (p.Pro49Ser) | ClinVar dbSNP |
3 | g.46709162C>A | CA352480596 | TMIE | c.248C>A (p.Pro83Gln) c.89C>A (p.Pro30Gln) c.146C>A (p.Pro49Gln) | |
3 | g.46709162C>G | CA352480599 | TMIE | c.248C>G (p.Pro83Arg) c.89C>G (p.Pro30Arg) c.146C>G (p.Pro49Arg) | |
3 | g.46709162C>T | CA352480600 | TMIE | c.248C>T (p.Pro83Leu) c.89C>T (p.Pro30Leu) c.146C>T (p.Pro49Leu) | |
3 | g.46709163A>C | CA433459101 | TMIE | c.249A>C (p.Pro83=) c.90A>C (p.Pro30=) c.147A>C (p.Pro49=) | |
3 | g.46709163A>G | CA433459102 | TMIE | c.249A>G (p.Pro83=) c.90A>G (p.Pro30=) c.147A>G (p.Pro49=) | gnomAD v4 |
3 | g.46709163A>T | CA433459103 | TMIE | c.249A>T (p.Pro83=) c.90A>T (p.Pro30=) c.147A>T (p.Pro49=) | |
3 | g.46709163_46709164delinsAC | CA1362234559 | TMIE | c.249_250delinsAC (p.Pro83=) c.90_91delinsAC (p.Pro30=) c.147_148delinsAC (p.Pro49=) | |
3 | g.46709164del | CA2357972 | TMIE | c.250del (p.Arg84GlyfsTer?) c.91del (p.Arg31GlyfsTer?) c.148del (p.Arg50GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46709164C>A | CA433459105 | TMIE | c.250C>A (p.Arg84=) c.91C>A (p.Arg31=) c.148C>A (p.Arg50=) | |
3 | g.46709164C= | CA1362234560 | TMIE | c.250C= (p.Arg84=) c.91C= (p.Arg31=) c.148C= (p.Arg50=) | |
3 | g.46709164C>G | CA352480602 | TMIE | c.250C>G (p.Arg84Gly) c.91C>G (p.Arg31Gly) c.148C>G (p.Arg50Gly) | |
3 | g.46709164C>T | CA252746 | TMIE | c.250C>T (p.Arg84Trp) c.91C>T (p.Arg31Trp) c.148C>T (p.Arg50Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709165G>A | CA2357973 | TMIE | c.251G>A (p.Arg84Gln) c.92G>A (p.Arg31Gln) c.149G>A (p.Arg50Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709165G>C | CA352480607 | TMIE | c.251G>C (p.Arg84Pro) c.92G>C (p.Arg31Pro) c.149G>C (p.Arg50Pro) | |
3 | g.46709165G= | CA1362234561 | TMIE | c.251G= (p.Arg84=) c.92G= (p.Arg31=) c.149G= (p.Arg50=) | |
3 | g.46709165G>T | CA261934 | TMIE | c.251G>T (p.Arg84Leu) c.92G>T (p.Arg31Leu) c.149G>T (p.Arg50Leu) | ClinVar dbSNP |
3 | g.46709166G>A | CA433459109 | TMIE | c.252G>A (p.Arg84=) c.93G>A (p.Arg31=) c.150G>A (p.Arg50=) | COSMIC |
3 | g.46709166G>C | CA433459110 | TMIE | c.252G>C (p.Arg84=) c.93G>C (p.Arg31=) c.150G>C (p.Arg50=) | |
3 | g.46709166G>T | CA433459111 | TMIE | c.252G>T (p.Arg84=) c.93G>T (p.Arg31=) c.150G>T (p.Arg50=) | gnomAD v4 |
3 | g.46709167A= | CA1362234562 | TMIE | c.253A= (p.Thr85=) c.94A= (p.Thr32=) c.151A= (p.Thr51=) | |
3 | g.46709167A>C | CA73732808 | TMIE | c.253A>C (p.Thr85Pro) c.94A>C (p.Thr32Pro) c.151A>C (p.Thr51Pro) | dbSNP |
3 | g.46709167A>G | CA352480612 | TMIE | c.253A>G (p.Thr85Ala) c.94A>G (p.Thr32Ala) c.151A>G (p.Thr51Ala) | gnomAD v4 |
3 | g.46709167A>T | CA352480614 | TMIE | c.253A>T (p.Thr85Ser) c.94A>T (p.Thr32Ser) c.151A>T (p.Thr51Ser) | |
3 | g.46709168C>A | CA352480619 | TMIE | c.254C>A (p.Thr85Asn) c.95C>A (p.Thr32Asn) c.152C>A (p.Thr51Asn) | |
3 | g.46709168C>G | CA352480621 | TMIE | c.254C>G (p.Thr85Ser) c.95C>G (p.Thr32Ser) c.152C>G (p.Thr51Ser) | |
3 | g.46709168C>T | CA352480617 | TMIE | c.254C>T (p.Thr85Ile) c.95C>T (p.Thr32Ile) c.152C>T (p.Thr51Ile) |