UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 3 | g.46709169C>A | CA433459117 | TMIE | c.255C>A (p.Thr85=) c.96C>A (p.Thr32=) c.153C>A (p.Thr51=) | gnomAD v4 |
| 3 | g.46709169C= | CA1362234563 | TMIE | c.255C= (p.Thr85=) c.96C= (p.Thr32=) c.153C= (p.Thr51=) | |
| 3 | g.46709169C>G | CA433459116 | TMIE | c.255C>G (p.Thr85=) c.96C>G (p.Thr32=) c.153C>G (p.Thr51=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46709169C>T | CA433459115 | TMIE | c.255C>T (p.Thr85=) c.96C>T (p.Thr32=) c.153C>T (p.Thr51=) | |
| 3 | g.46709170C>A | CA433459119 | TMIE | c.256C>A (p.Arg86=) c.97C>A (p.Arg33=) c.154C>A (p.Arg52=) | |
| 3 | g.46709170C= | CA1362234564 | TMIE | c.256C= (p.Arg86=) c.97C= (p.Arg33=) c.154C= (p.Arg52=) | |
| 3 | g.46709170C>G | CA352480624 | TMIE | c.256C>G (p.Arg86Gly) c.97C>G (p.Arg33Gly) c.154C>G (p.Arg52Gly) | dbSNP gnomAD v4 |
| 3 | g.46709170C>T | CA2357974 | TMIE | c.256C>T (p.Arg86Trp) c.97C>T (p.Arg33Trp) c.154C>T (p.Arg52Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46709171G>A | CA2357975 | TMIE | c.257G>A (p.Arg86Gln) c.98G>A (p.Arg33Gln) c.155G>A (p.Arg52Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46709171G>C | CA352480630 | TMIE | c.257G>C (p.Arg86Pro) c.98G>C (p.Arg33Pro) c.155G>C (p.Arg52Pro) | |
| 3 | g.46709171G= | CA1362234565 | TMIE | c.257G= (p.Arg86=) c.98G= (p.Arg33=) c.155G= (p.Arg52=) | |
| 3 | g.46709171G>T | CA352480632 | TMIE | c.257G>T (p.Arg86Leu) c.98G>T (p.Arg33Leu) c.155G>T (p.Arg52Leu) | |
| 3 | g.46709172G>A | CA433459121 | TMIE | c.258G>A (p.Arg86=) c.99G>A (p.Arg33=) c.156G>A (p.Arg52=) | |
| 3 | g.46709172G>C | CA433459122 | TMIE | c.258G>C (p.Arg86=) c.99G>C (p.Arg33=) c.156G>C (p.Arg52=) | |
| 3 | g.46709172G>T | CA433459123 | TMIE | c.258G>T (p.Arg86=) c.99G>T (p.Arg33=) c.156G>T (p.Arg52=) | |
| 3 | g.46709173A>C | CA352480636 | TMIE | c.259A>C (p.Lys87Gln) c.100A>C (p.Lys34Gln) c.157A>C (p.Lys53Gln) | |
| 3 | g.46709173A>G | CA352480635 | TMIE | c.259A>G (p.Lys87Glu) c.100A>G (p.Lys34Glu) c.157A>G (p.Lys53Glu) | |
| 3 | g.46709173A>T | CA352480634 | TMIE | c.259A>T (p.Lys87Ter) c.100A>T (p.Lys34Ter) c.157A>T (p.Lys53Ter) | |
| 3 | g.46709174A>C | CA352480640 | TMIE | c.260A>C (p.Lys87Thr) c.101A>C (p.Lys34Thr) c.158A>C (p.Lys53Thr) | |
| 3 | g.46709174A>G | CA352480641 | TMIE | c.260A>G (p.Lys87Arg) c.101A>G (p.Lys34Arg) c.158A>G (p.Lys53Arg) | |
| 3 | g.46709174A>T | CA352480643 | TMIE | c.260A>T (p.Lys87Met) c.101A>T (p.Lys34Met) c.158A>T (p.Lys53Met) | |
| 3 | g.46709175G>A | CA2357976 | TMIE | c.261G>A (p.Lys87=) c.102G>A (p.Lys34=) c.159G>A (p.Lys53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46709175G>C | CA352480646 | TMIE | c.261G>C (p.Lys87Asn) c.102G>C (p.Lys34Asn) c.159G>C (p.Lys53Asn) | |
| 3 | g.46709175G= | CA1362234566 | TMIE | c.261G= (p.Lys87=) c.102G= (p.Lys34=) c.159G= (p.Lys53=) | |
| 3 | g.46709175G>T | CA352480649 | TMIE | c.261G>T (p.Lys87Asn) c.102G>T (p.Lys34Asn) c.159G>T (p.Lys53Asn) | |
| 3 | g.46709176G>A | CA352480655 | TMIE | c.262G>A (p.Glu88Lys) c.103G>A (p.Glu35Lys) c.160G>A (p.Glu54Lys) | gnomAD v4 |
| 3 | g.46709176G>C | CA352480653 | TMIE | c.262G>C (p.Glu88Gln) c.103G>C (p.Glu35Gln) c.160G>C (p.Glu54Gln) | |
| 3 | g.46709176G>T | CA352480652 | TMIE | c.262G>T (p.Glu88Ter) c.103G>T (p.Glu35Ter) c.160G>T (p.Glu54Ter) | |
| 3 | g.46709177A>C | CA352480657 | TMIE | c.263A>C (p.Glu88Ala) c.104A>C (p.Glu35Ala) c.161A>C (p.Glu54Ala) | |
| 3 | g.46709177A>G | CA352480662 | TMIE | c.263A>G (p.Glu88Gly) c.104A>G (p.Glu35Gly) c.161A>G (p.Glu54Gly) | |
| 3 | g.46709177A>T | CA352480660 | TMIE | c.263A>T (p.Glu88Val) c.104A>T (p.Glu35Val) c.161A>T (p.Glu54Val) | |
| 3 | g.46709178G>A | CA433459124 | TMIE | c.264G>A (p.Glu88=) c.105G>A (p.Glu35=) c.162G>A (p.Glu54=) | dbSNP |
| 3 | g.46709178G>C | CA352480665 | TMIE | c.264G>C (p.Glu88Asp) c.105G>C (p.Glu35Asp) c.162G>C (p.Glu54Asp) | |
| 3 | g.46709178G= | CA1362234567 | TMIE | c.264G= (p.Glu88=) c.105G= (p.Glu35=) c.162G= (p.Glu54=) | |
| 3 | g.46709178G>T | CA352480668 | TMIE | c.264G>T (p.Glu88Asp) c.105G>T (p.Glu35Asp) c.162G>T (p.Glu54Asp) | |
| 3 | g.46709179A>C | CA352480671 | TMIE | c.265A>C (p.Ile89Leu) c.106A>C (p.Ile36Leu) c.163A>C (p.Ile55Leu) | |
| 3 | g.46709179A>G | CA352480672 | TMIE | c.265A>G (p.Ile89Val) c.106A>G (p.Ile36Val) c.163A>G (p.Ile55Val) | |
| 3 | g.46709179A>T | CA352480673 | TMIE | c.265A>T (p.Ile89Phe) c.106A>T (p.Ile36Phe) c.163A>T (p.Ile55Phe) | |
| 3 | g.46709180T>A | CA352480675 | TMIE | c.266T>A (p.Ile89Asn) c.107T>A (p.Ile36Asn) c.164T>A (p.Ile55Asn) | |
| 3 | g.46709180T>C | CA352480678 | TMIE | c.266T>C (p.Ile89Thr) c.107T>C (p.Ile36Thr) c.164T>C (p.Ile55Thr) | |
| 3 | g.46709180T>G | CA352480681 | TMIE | c.266T>G (p.Ile89Ser) c.107T>G (p.Ile36Ser) c.164T>G (p.Ile55Ser) | |
| 3 | g.46709181C>A | CA433459126 | TMIE | c.267C>A (p.Ile89=) c.108C>A (p.Ile36=) c.165C>A (p.Ile55=) | dbSNP gnomAD v4 |
| 3 | g.46709181C= | CA1362234568 | TMIE | c.267C= (p.Ile89=) c.108C= (p.Ile36=) c.165C= (p.Ile55=) | |
| 3 | g.46709181C>G | CA352480684 | TMIE | c.267C>G (p.Ile89Met) c.108C>G (p.Ile36Met) c.165C>G (p.Ile55Met) | |
| 3 | g.46709181C>T | CA2357977 | TMIE | c.267C>T (p.Ile89=) c.108C>T (p.Ile36=) c.165C>T (p.Ile55=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.46709182G>A | CA2357978 | TMIE | c.268G>A (p.Glu90Lys) c.109G>A (p.Glu37Lys) c.166G>A (p.Glu56Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.46709182G>C | CA352480689 | TMIE | c.268G>C (p.Glu90Gln) c.109G>C (p.Glu37Gln) c.166G>C (p.Glu56Gln) | |
| 3 | g.46709182G= | CA1362234569 | TMIE | c.268G= (p.Glu90=) c.109G= (p.Glu37=) c.166G= (p.Glu56=) | |
| 3 | g.46709182G>T | CA352480691 | TMIE | c.268G>T (p.Glu90Ter) c.109G>T (p.Glu37Ter) c.166G>T (p.Glu56Ter) | |
| 3 | g.46709183A>C | CA352480693 | TMIE | c.269A>C (p.Glu90Ala) c.110A>C (p.Glu37Ala) c.167A>C (p.Glu56Ala) | |
| 3 | g.46709183A>G | CA352480700 | TMIE | c.269A>G (p.Glu90Gly) c.110A>G (p.Glu37Gly) c.167A>G (p.Glu56Gly) | dbSNP gnomAD v4 |
| 3 | g.46709183A>T | CA352480697 | TMIE | c.269A>T (p.Glu90Val) c.110A>T (p.Glu37Val) c.167A>T (p.Glu56Val) | |
| 3 | g.46709184A>C | CA352480703 | TMIE | c.270A>C (p.Glu90Asp) c.111A>C (p.Glu37Asp) c.168A>C (p.Glu56Asp) | |
| 3 | g.46709184A>G | CA433459127 | TMIE | c.270A>G (p.Glu90=) c.111A>G (p.Glu37=) c.168A>G (p.Glu56=) | |
| 3 | g.46709184A>T | CA352480705 | TMIE | c.270A>T (p.Glu90Asp) c.111A>T (p.Glu37Asp) c.168A>T (p.Glu56Asp) | |
| 3 | g.46709185G>A | CA352480708 | TMIE | c.271G>A (p.Ala91Thr) c.112G>A (p.Ala38Thr) c.169G>A (p.Ala57Thr) | |
| 3 | g.46709185G>C | CA352480710 | TMIE | c.271G>C (p.Ala91Pro) c.112G>C (p.Ala38Pro) c.169G>C (p.Ala57Pro) | |
| 3 | g.46709185G>T | CA352480713 | TMIE | c.271G>T (p.Ala91Ser) c.112G>T (p.Ala38Ser) c.169G>T (p.Ala57Ser) | |
| 3 | g.46709186C>A | CA352480716 | TMIE | c.272C>A (p.Ala91Asp) c.113C>A (p.Ala38Asp) c.170C>A (p.Ala57Asp) | |
| 3 | g.46709186C>G | CA352480718 | TMIE | c.272C>G (p.Ala91Gly) c.113C>G (p.Ala38Gly) c.170C>G (p.Ala57Gly) | gnomAD v4 |
| 3 | g.46709186C>T | CA352480721 | TMIE | c.272C>T (p.Ala91Val) c.113C>T (p.Ala38Val) c.170C>T (p.Ala57Val) | |
| 3 | g.46709187C>A | CA433459128 | TMIE | c.273C>A (p.Ala91=) c.114C>A (p.Ala38=) c.171C>A (p.Ala57=) | |
| 3 | g.46709187C>G | CA433459129 | TMIE | c.273C>G (p.Ala91=) c.114C>G (p.Ala38=) c.171C>G (p.Ala57=) | |
| 3 | g.46709187C>T | CA433459130 | TMIE | c.273C>T (p.Ala91=) c.114C>T (p.Ala38=) c.171C>T (p.Ala57=) | |
| 3 | g.46709188C>A | CA433459131 | TMIE | c.274C>A (p.Arg92=) c.115C>A (p.Arg39=) c.172C>A (p.Arg58=) | |
| 3 | g.46709188C= | CA1362234570 | TMIE | c.274C= (p.Arg92=) c.115C= (p.Arg39=) c.172C= (p.Arg58=) | |
| 3 | g.46709188C>G | CA352480724 | TMIE | c.274C>G (p.Arg92Gly) c.115C>G (p.Arg39Gly) c.172C>G (p.Arg58Gly) | |
| 3 | g.46709188C>T | CA252747 | TMIE | c.274C>T (p.Arg92Trp) c.115C>T (p.Arg39Trp) c.172C>T (p.Arg58Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46709189G>A | CA2357979 | TMIE | c.275G>A (p.Arg92Gln) c.116G>A (p.Arg39Gln) c.173G>A (p.Arg58Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46709189G>C | CA352480730 | TMIE | c.275G>C (p.Arg92Pro) c.116G>C (p.Arg39Pro) c.173G>C (p.Arg58Pro) | |
| 3 | g.46709189G= | CA1362234571 | TMIE | c.275G= (p.Arg92=) c.116G= (p.Arg39=) c.173G= (p.Arg58=) | |
| 3 | g.46709189G>T | CA2357980 | TMIE | c.275G>T (p.Arg92Leu) c.116G>T (p.Arg39Leu) c.173G>T (p.Arg58Leu) | dbSNP ExAC gnomAD v2 |
| 3 | g.46709190G>A | CA433459136 | TMIE | c.276G>A (p.Arg92=) c.117G>A (p.Arg39=) c.174G>A (p.Arg58=) | |
| 3 | g.46709190G>C | CA433459137 | TMIE | c.276G>C (p.Arg92=) c.117G>C (p.Arg39=) c.174G>C (p.Arg58=) | dbSNP gnomAD v4 |
| 3 | g.46709190G= | CA1362234572 | TMIE | c.276G= (p.Arg92=) c.117G= (p.Arg39=) c.174G= (p.Arg58=) | |
| 3 | g.46709190G>T | CA433459135 | TMIE | c.276G>T (p.Arg92=) c.117G>T (p.Arg39=) c.174G>T (p.Arg58=) | dbSNP |
| 3 | g.46709191T>A | CA352480738 | TMIE | c.277T>A (p.Tyr93Asn) c.118T>A (p.Tyr40Asn) c.175T>A (p.Tyr59Asn) | dbSNP gnomAD v4 |
| 3 | g.46709191T>C | CA352480733 | TMIE | c.277T>C (p.Tyr93His) c.118T>C (p.Tyr40His) c.175T>C (p.Tyr59His) | |
| 3 | g.46709191T>G | CA352480735 | TMIE | c.277T>G (p.Tyr93Asp) c.118T>G (p.Tyr40Asp) c.175T>G (p.Tyr59Asp) | |
| 3 | g.46709191T= | CA1362234573 | TMIE | c.277T= (p.Tyr93=) c.118T= (p.Tyr40=) c.175T= (p.Tyr59=) | |
| 3 | g.46709192A= | CA1362234574 | TMIE | c.278A= (p.Tyr93=) c.119A= (p.Tyr40=) c.176A= (p.Tyr59=) | |
| 3 | g.46709192A>C | CA352480740 | TMIE | c.278A>C (p.Tyr93Ser) c.119A>C (p.Tyr40Ser) c.176A>C (p.Tyr59Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46709192A>G | CA352480741 | TMIE | c.278A>G (p.Tyr93Cys) c.119A>G (p.Tyr40Cys) c.176A>G (p.Tyr59Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46709192A>T | CA352480744 | TMIE | c.278A>T (p.Tyr93Phe) c.119A>T (p.Tyr40Phe) c.176A>T (p.Tyr59Phe) | |
| 3 | g.46709193C>A | CA352480747 | TMIE | c.279C>A (p.Tyr93Ter) c.120C>A (p.Tyr40Ter) c.177C>A (p.Tyr59Ter) | |
| 3 | g.46709193C= | CA1362234575 | TMIE | c.279C= (p.Tyr93=) c.120C= (p.Tyr40=) c.177C= (p.Tyr59=) | |
| 3 | g.46709193C>G | CA352480750 | TMIE | c.279C>G (p.Tyr93Ter) c.120C>G (p.Tyr40Ter) c.177C>G (p.Tyr59Ter) | |
| 3 | g.46709193C>T | CA2357981 | TMIE | c.279C>T (p.Tyr93=) c.120C>T (p.Tyr40=) c.177C>T (p.Tyr59=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46709194C>A | CA352480755 | TMIE | c.280C>A (p.Leu94Met) c.121C>A (p.Leu41Met) c.178C>A (p.Leu60Met) | |
| 3 | g.46709194C= | CA1362234576 | TMIE | c.280C= (p.Leu94=) c.121C= (p.Leu41=) c.178C= (p.Leu60=) | |
| 3 | g.46709194C>G | CA352480756 | TMIE | c.280C>G (p.Leu94Val) c.121C>G (p.Leu41Val) c.178C>G (p.Leu60Val) | |
| 3 | g.46709194C>T | CA433459140 | TMIE | c.280C>T (p.Leu94=) c.121C>T (p.Leu41=) c.178C>T (p.Leu60=) | dbSNP |
| 3 | g.46709195T>A | CA2357982 | TMIE | c.281T>A (p.Leu94Gln) c.122T>A (p.Leu41Gln) c.179T>A (p.Leu60Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46709195T>C | CA352480759 | TMIE | c.281T>C (p.Leu94Pro) c.122T>C (p.Leu41Pro) c.179T>C (p.Leu60Pro) | |
| 3 | g.46709195T>G | CA352480762 | TMIE | c.281T>G (p.Leu94Arg) c.122T>G (p.Leu41Arg) c.179T>G (p.Leu60Arg) | |
| 3 | g.46709195T= | CA1362234577 | TMIE | c.281T= (p.Leu94=) c.122T= (p.Leu41=) c.179T= (p.Leu60=) | |
| 3 | g.46709196G>A | CA433459141 | TMIE | c.282G>A (p.Leu94=) c.123G>A (p.Leu41=) c.180G>A (p.Leu60=) | |
| 3 | g.46709196G>C | CA433459142 | TMIE | c.282G>C (p.Leu94=) c.123G>C (p.Leu41=) c.180G>C (p.Leu60=) | |
| 3 | g.46709196G>T | CA433459144 | TMIE | c.282G>T (p.Leu94=) c.123G>T (p.Leu41=) c.180G>T (p.Leu60=) | |
| 3 | g.46709197C>A | CA352480770 | TMIE | c.283C>A (p.Gln95Lys) c.124C>A (p.Gln42Lys) c.181C>A (p.Gln61Lys) | |
| 3 | g.46709197C>G | CA352480765 | TMIE | c.283C>G (p.Gln95Glu) c.124C>G (p.Gln42Glu) c.181C>G (p.Gln61Glu) | |
| 3 | g.46709197C>T | CA352480768 | TMIE | c.283C>T (p.Gln95Ter) c.124C>T (p.Gln42Ter) c.181C>T (p.Gln61Ter) | |
| 3 | g.46709198A= | CA1362234578 | TMIE | c.284A= (p.Gln95=) c.125A= (p.Gln42=) c.182A= (p.Gln61=) | |
| 3 | g.46709198A>C | CA352480774 | TMIE | c.284A>C (p.Gln95Pro) c.125A>C (p.Gln42Pro) c.182A>C (p.Gln61Pro) | |
| 3 | g.46709198A>G | CA2357983 | TMIE | c.284A>G (p.Gln95Arg) c.125A>G (p.Gln42Arg) c.182A>G (p.Gln61Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46709198A>T | CA352480778 | TMIE | c.284A>T (p.Gln95Leu) c.125A>T (p.Gln42Leu) c.182A>T (p.Gln61Leu) | gnomAD v4 |
| 3 | g.46709199G>A | CA433459146 | TMIE | c.285G>A (p.Gln95=) c.126G>A (p.Gln42=) c.183G>A (p.Gln61=) | |
| 3 | g.46709199G>C | CA352480782 | TMIE | c.285G>C (p.Gln95His) c.126G>C (p.Gln42His) c.183G>C (p.Gln61His) | |
| 3 | g.46709199G>T | CA352480784 | TMIE | c.285G>T (p.Gln95His) c.126G>T (p.Gln42His) c.183G>T (p.Gln61His) | |
| 3 | g.46709200C>A | CA433459150 | TMIE | c.286C>A (p.Arg96=) c.127C>A (p.Arg43=) c.184C>A (p.Arg62=) | |
| 3 | g.46709200C= | CA1362234579 | TMIE | c.286C= (p.Arg96=) c.127C= (p.Arg43=) c.184C= (p.Arg62=) | |
| 3 | g.46709200C>G | CA352480786 | TMIE | c.286C>G (p.Arg96Gly) c.127C>G (p.Arg43Gly) c.184C>G (p.Arg62Gly) | |
| 3 | g.46709200C>T | CA2357984 | TMIE | c.286C>T (p.Arg96Ter) c.127C>T (p.Arg43Ter) c.184C>T (p.Arg62Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46709201G>A | CA2357985 | TMIE | c.287G>A (p.Arg96Gln) c.128G>A (p.Arg43Gln) c.185G>A (p.Arg62Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46709201G>C | CA352480792 | TMIE | c.287G>C (p.Arg96Pro) c.128G>C (p.Arg43Pro) c.185G>C (p.Arg62Pro) | |
| 3 | g.46709201G= | CA1362234580 | TMIE | c.287G= (p.Arg96=) c.128G= (p.Arg43=) c.185G= (p.Arg62=) | |
| 3 | g.46709201G>T | CA352480794 | TMIE | c.287G>T (p.Arg96Leu) c.128G>T (p.Arg43Leu) c.185G>T (p.Arg62Leu) | |
| 3 | g.46709202A>C | CA433459151 | TMIE | c.288A>C (p.Arg96=) c.129A>C (p.Arg43=) c.186A>C (p.Arg62=) | |
| 3 | g.46709202A>G | CA433459152 | TMIE | c.288A>G (p.Arg96=) c.129A>G (p.Arg43=) c.186A>G (p.Arg62=) | |
| 3 | g.46709202A>T | CA433459153 | TMIE | c.288A>T (p.Arg96=) c.129A>T (p.Arg43=) c.186A>T (p.Arg62=) | |
| 3 | g.46709203A>C | CA352480796 | TMIE | c.289A>C (p.Lys97Gln) c.130A>C (p.Lys44Gln) c.187A>C (p.Lys63Gln) | |
| 3 | g.46709203A>G | CA352480799 | TMIE | c.289A>G (p.Lys97Glu) c.130A>G (p.Lys44Glu) c.187A>G (p.Lys63Glu) | |
| 3 | g.46709203A>T | CA352480802 | TMIE | c.289A>T (p.Lys97Ter) c.130A>T (p.Lys44Ter) c.187A>T (p.Lys63Ter) | |
| 3 | g.46709204A>C | CA352480805 | TMIE | c.290A>C (p.Lys97Thr) c.131A>C (p.Lys44Thr) c.188A>C (p.Lys63Thr) | |
| 3 | g.46709204A>G | CA352480807 | TMIE | c.290A>G (p.Lys97Arg) c.131A>G (p.Lys44Arg) c.188A>G (p.Lys63Arg) | |
| 3 | g.46709204A>T | CA352480804 | TMIE | c.290A>T (p.Lys97Met) c.131A>T (p.Lys44Met) c.188A>T (p.Lys63Met) | |
| 3 | g.46709205G>A | CA433459155 | TMIE | c.291G>A (p.Lys97=) c.132G>A (p.Lys44=) c.189G>A (p.Lys63=) | gnomAD v4 |
| 3 | g.46709205G>C | CA352480809 | TMIE | c.291G>C (p.Lys97Asn) c.132G>C (p.Lys44Asn) c.189G>C (p.Lys63Asn) | |
| 3 | g.46709205G>T | CA352480811 | TMIE | c.291G>T (p.Lys97Asn) c.132G>T (p.Lys44Asn) c.189G>T (p.Lys63Asn) | |
| 3 | g.46709206G>A | CA352480812 | TMIE | c.292G>A (p.Ala98Thr) c.133G>A (p.Ala45Thr) c.190G>A (p.Ala64Thr) | dbSNP |
| 3 | g.46709206G>C | CA352480815 | TMIE | c.292G>C (p.Ala98Pro) c.133G>C (p.Ala45Pro) c.190G>C (p.Ala64Pro) | |
| 3 | g.46709206G= | CA1362234581 | TMIE | c.292G= (p.Ala98=) c.133G= (p.Ala45=) c.190G= (p.Ala64=) | |
| 3 | g.46709206G>T | CA352480816 | TMIE | c.292G>T (p.Ala98Ser) c.133G>T (p.Ala45Ser) c.190G>T (p.Ala64Ser) | |
| 3 | g.46709207C>A | CA2357986 | TMIE | c.293C>A (p.Ala98Glu) c.134C>A (p.Ala45Glu) c.191C>A (p.Ala64Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46709207C= | CA1362234582 | TMIE | c.293C= (p.Ala98=) c.134C= (p.Ala45=) c.191C= (p.Ala64=) | |
| 3 | g.46709207C>G | CA352480821 | TMIE | c.293C>G (p.Ala98Gly) c.134C>G (p.Ala45Gly) c.191C>G (p.Ala64Gly) | |
| 3 | g.46709207C>T | CA352480822 | TMIE | c.293C>T (p.Ala98Val) c.134C>T (p.Ala45Val) c.191C>T (p.Ala64Val) | |
| 3 | g.46709208A= | CA1362234583 | TMIE | c.294A= (p.Ala98=) c.135A= (p.Ala45=) c.192A= (p.Ala64=) | |
| 3 | g.46709208A>C | CA433459159 | TMIE | c.294A>C (p.Ala98=) c.135A>C (p.Ala45=) c.192A>C (p.Ala64=) | |
| 3 | g.46709208A>G | CA433459160 | TMIE | c.294A>G (p.Ala98=) c.135A>G (p.Ala45=) c.192A>G (p.Ala64=) | dbSNP |
| 3 | g.46709208A>T | CA433459162 | TMIE | c.294A>T (p.Ala98=) c.135A>T (p.Ala45=) c.192A>T (p.Ala64=) | |
| 3 | g.46709209G>A | CA352480825 | TMIE | c.295G>A (p.Ala99Thr) c.136G>A (p.Ala46Thr) c.193G>A (p.Ala65Thr) | gnomAD v4 |
| 3 | g.46709209G>C | CA352480827 | TMIE | c.295G>C (p.Ala99Pro) c.136G>C (p.Ala46Pro) c.193G>C (p.Ala65Pro) | |
| 3 | g.46709209G= | CA1362234584 | TMIE | c.295G= (p.Ala99=) c.136G= (p.Ala46=) c.193G= (p.Ala65=) | |
| 3 | g.46709209G>T | CA2357987 | TMIE | c.295G>T (p.Ala99Ser) c.136G>T (p.Ala46Ser) c.193G>T (p.Ala65Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46709209dup | CA2665467531 | TMIE | c.295dup (p.Ala99GlyfsTer16) c.136dup (p.Ala46GlyfsTer16) c.193dup (p.Ala65GlyfsTer16) | gnomAD v4 |
| 3 | g.46709210C>A | CA352480830 | TMIE | c.296C>A (p.Ala99Asp) c.137C>A (p.Ala46Asp) c.194C>A (p.Ala65Asp) | |
| 3 | g.46709210C= | CA1362234585 | TMIE | c.296C= (p.Ala99=) c.137C= (p.Ala46=) c.194C= (p.Ala65=) | |
| 3 | g.46709210C>G | CA352480833 | TMIE | c.296C>G (p.Ala99Gly) c.137C>G (p.Ala46Gly) c.194C>G (p.Ala65Gly) | |
| 3 | g.46709210C>T | CA352480844 | TMIE | c.296C>T (p.Ala99Val) c.137C>T (p.Ala46Val) c.194C>T (p.Ala65Val) | dbSNP gnomAD v4 |
| 3 | g.46709211C>A | CA433459163 | TMIE | c.297C>A (p.Ala99=) c.138C>A (p.Ala46=) c.195C>A (p.Ala65=) | |
| 3 | g.46709211C>G | CA433459166 | TMIE | c.297C>G (p.Ala99=) c.138C>G (p.Ala46=) c.195C>G (p.Ala65=) | |
| 3 | g.46709211C>T | CA433459164 | TMIE | c.297C>T (p.Ala99=) c.138C>T (p.Ala46=) c.195C>T (p.Ala65=) | |
| 3 | g.46709212A>C | CA352480853 | TMIE | c.298A>C (p.Lys100Gln) c.139A>C (p.Lys47Gln) c.196A>C (p.Lys66Gln) | |
| 3 | g.46709212A>G | CA352480847 | TMIE | c.298A>G (p.Lys100Glu) c.139A>G (p.Lys47Glu) c.196A>G (p.Lys66Glu) | |
| 3 | g.46709212A>T | CA352480849 | TMIE | c.298A>T (p.Lys100Ter) c.139A>T (p.Lys47Ter) c.196A>T (p.Lys66Ter) | |
| 3 | g.46709213A>C | CA352480856 | TMIE | c.299A>C (p.Lys100Thr) c.140A>C (p.Lys47Thr) c.197A>C (p.Lys66Thr) | |
| 3 | g.46709213A>G | CA352480857 | TMIE | c.299A>G (p.Lys100Arg) c.140A>G (p.Lys47Arg) c.197A>G (p.Lys66Arg) | |
| 3 | g.46709213A>T | CA352480860 | TMIE | c.299A>T (p.Lys100Met) c.140A>T (p.Lys47Met) c.197A>T (p.Lys66Met) | |
| 3 | g.46709214G>A | CA433459167 | TMIE | c.300G>A (p.Lys100=) c.141G>A (p.Lys47=) c.198G>A (p.Lys66=) | |
| 3 | g.46709214G>C | CA352480861 | TMIE | c.300G>C (p.Lys100Asn) c.141G>C (p.Lys47Asn) c.198G>C (p.Lys66Asn) | |
| 3 | g.46709214G>T | CA352480864 | TMIE | c.300G>T (p.Lys100Asn) c.141G>T (p.Lys47Asn) c.198G>T (p.Lys66Asn) | |
| 3 | g.46709215A>C | CA352480868 | TMIE | c.301A>C (p.Met101Leu) c.142A>C (p.Met48Leu) c.199A>C (p.Met67Leu) | |
| 3 | g.46709215A>G | CA352480871 | TMIE | c.301A>G (p.Met101Val) c.142A>G (p.Met48Val) c.199A>G (p.Met67Val) | |
| 3 | g.46709215A>T | CA352480873 | TMIE | c.301A>T (p.Met101Leu) c.142A>T (p.Met48Leu) c.199A>T (p.Met67Leu) | gnomAD v4 |
| 3 | g.46709216T>A | CA352480876 | TMIE | c.302T>A (p.Met101Lys) c.143T>A (p.Met48Lys) c.200T>A (p.Met67Lys) | |
| 3 | g.46709216T>C | CA352480878 | TMIE | c.302T>C (p.Met101Thr) c.143T>C (p.Met48Thr) c.200T>C (p.Met67Thr) | |
| 3 | g.46709216T>G | CA2357988 | TMIE | c.302T>G (p.Met101Arg) c.143T>G (p.Met48Arg) c.200T>G (p.Met67Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46709216T= | CA1362234586 | TMIE | c.302T= (p.Met101=) c.143T= (p.Met48=) c.200T= (p.Met67=) | |
| 3 | g.46709217G>A | CA352480895 | TMIE | c.303G>A (p.Met101Ile) c.144G>A (p.Met48Ile) c.201G>A (p.Met67Ile) | gnomAD v4 |
| 3 | g.46709217G>C | CA352480893 | TMIE | c.303G>C (p.Met101Ile) c.144G>C (p.Met48Ile) c.201G>C (p.Met67Ile) | |
| 3 | g.46709217G>T | CA352480884 | TMIE | c.303G>T (p.Met101Ile) c.144G>T (p.Met48Ile) c.201G>T (p.Met67Ile) | |
| 3 | g.46709218T>A | CA352480897 | TMIE | c.304T>A (p.Tyr102Asn) c.145T>A (p.Tyr49Asn) c.202T>A (p.Tyr68Asn) | |
| 3 | g.46709218T>C | CA352480900 | TMIE | c.304T>C (p.Tyr102His) c.145T>C (p.Tyr49His) c.202T>C (p.Tyr68His) | |
| 3 | g.46709218T>G | CA352480903 | TMIE | c.304T>G (p.Tyr102Asp) c.145T>G (p.Tyr49Asp) c.202T>G (p.Tyr68Asp) | |
| 3 | g.46709219A>C | CA352480904 | TMIE | c.305A>C (p.Tyr102Ser) c.146A>C (p.Tyr49Ser) c.203A>C (p.Tyr68Ser) | |
| 3 | g.46709219A>G | CA352480907 | TMIE | c.305A>G (p.Tyr102Cys) c.146A>G (p.Tyr49Cys) c.203A>G (p.Tyr68Cys) | |
| 3 | g.46709219A>T | CA352480909 | TMIE | c.305A>T (p.Tyr102Phe) c.146A>T (p.Tyr49Phe) c.203A>T (p.Tyr68Phe) | |
| 3 | g.46709220C>A | CA352480914 | TMIE | c.306C>A (p.Tyr102Ter) c.147C>A (p.Tyr49Ter) c.204C>A (p.Tyr68Ter) | |
| 3 | g.46709220C>G | CA352480912 | TMIE | c.306C>G (p.Tyr102Ter) c.147C>G (p.Tyr49Ter) c.204C>G (p.Tyr68Ter) | |
| 3 | g.46709220C>T | CA433459169 | TMIE | c.306C>T (p.Tyr102=) c.147C>T (p.Tyr49=) c.204C>T (p.Tyr68=) | gnomAD v4 |
| 3 | g.46709221A>C | CA352480921 | TMIE | c.307A>C (p.Thr103Pro) c.148A>C (p.Thr50Pro) c.205A>C (p.Thr69Pro) | |
| 3 | g.46709221A>G | CA352480923 | TMIE | c.307A>G (p.Thr103Ala) c.148A>G (p.Thr50Ala) c.205A>G (p.Thr69Ala) | gnomAD v4 |
| 3 | g.46709221A>T | CA352480926 | TMIE | c.307A>T (p.Thr103Ser) c.148A>T (p.Thr50Ser) c.205A>T (p.Thr69Ser) | |
| 3 | g.46709222C>A | CA352480933 | TMIE | c.308C>A (p.Thr103Lys) c.149C>A (p.Thr50Lys) c.206C>A (p.Thr69Lys) | |
| 3 | g.46709222C>G | CA352480937 | TMIE | c.308C>G (p.Thr103Arg) c.149C>G (p.Thr50Arg) c.206C>G (p.Thr69Arg) | |
| 3 | g.46709222C>T | CA352480938 | TMIE | c.308C>T (p.Thr103Ile) c.149C>T (p.Thr50Ile) c.206C>T (p.Thr69Ile) | |
| 3 | g.46709223A>C | CA433459171 | TMIE | c.309A>C (p.Thr103=) c.150A>C (p.Thr50=) c.207A>C (p.Thr69=) | |
| 3 | g.46709223A>G | CA433459173 | TMIE | c.309A>G (p.Thr103=) c.150A>G (p.Thr50=) c.207A>G (p.Thr69=) | |
| 3 | g.46709223A>T | CA433459175 | TMIE | c.309A>T (p.Thr103=) c.150A>T (p.Thr50=) c.207A>T (p.Thr69=) | |
| 3 | g.46709224G>A | CA352480943 | TMIE | c.310G>A (p.Asp104Asn) c.151G>A (p.Asp51Asn) c.208G>A (p.Asp70Asn) | gnomAD v4 |
| 3 | g.46709224G>C | CA352480947 | TMIE | c.310G>C (p.Asp104His) c.151G>C (p.Asp51His) c.208G>C (p.Asp70His) | |
| 3 | g.46709224G>T | CA352480944 | TMIE | c.310G>T (p.Asp104Tyr) c.151G>T (p.Asp51Tyr) c.208G>T (p.Asp70Tyr) | |
| 3 | g.46709225A>C | CA352480950 | TMIE | c.311A>C (p.Asp104Ala) c.152A>C (p.Asp51Ala) c.209A>C (p.Asp70Ala) | |
| 3 | g.46709225A>G | CA352480951 | TMIE | c.311A>G (p.Asp104Gly) c.152A>G (p.Asp51Gly) c.209A>G (p.Asp70Gly) | |
| 3 | g.46709225A>T | CA352480954 | TMIE | c.311A>T (p.Asp104Val) c.152A>T (p.Asp51Val) c.209A>T (p.Asp70Val) | COSMIC |
| 3 | g.46709226C>A | CA352480956 | TMIE | c.312C>A (p.Asp104Glu) c.153C>A (p.Asp51Glu) c.210C>A (p.Asp70Glu) | |
| 3 | g.46709226C>G | CA352480957 | TMIE | c.312C>G (p.Asp104Glu) c.153C>G (p.Asp51Glu) c.210C>G (p.Asp70Glu) | |
| 3 | g.46709226C>T | CA433459177 | TMIE | c.312C>T (p.Asp104=) c.153C>T (p.Asp51=) c.210C>T (p.Asp70=) | |
| 3 | g.46709227A= | CA1362234587 | TMIE | c.313A= (p.Lys105=) c.154A= (p.Lys52=) c.211A= (p.Lys71=) | |
| 3 | g.46709227A>C | CA352480966 | TMIE | c.313A>C (p.Lys105Gln) c.154A>C (p.Lys52Gln) c.211A>C (p.Lys71Gln) | |
| 3 | g.46709227A>G | CA352480968 | TMIE | c.313A>G (p.Lys105Glu) c.154A>G (p.Lys52Glu) c.211A>G (p.Lys71Glu) | gnomAD v4 |
| 3 | g.46709227A>T | CA352480970 | TMIE | c.313A>T (p.Lys105Ter) c.154A>T (p.Lys52Ter) c.211A>T (p.Lys71Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46709228A>C | CA352480972 | TMIE | c.314A>C (p.Lys105Thr) c.155A>C (p.Lys52Thr) c.212A>C (p.Lys71Thr) | |
| 3 | g.46709228A>G | CA352480977 | TMIE | c.314A>G (p.Lys105Arg) c.155A>G (p.Lys52Arg) c.212A>G (p.Lys71Arg) | |
| 3 | g.46709228A>T | CA352480981 | TMIE | c.314A>T (p.Lys105Met) c.155A>T (p.Lys52Met) c.212A>T (p.Lys71Met) | |
| 3 | g.46709228_46709231delinsAGCT | CA1362234588 | TMIE | c.314_317delinsAGCT (p.Lys105=) c.155_158delinsAGCT (p.Lys52=) c.212_215delinsAGCT (p.Lys71=) | |
| 3 | g.46709229G>A | CA73732913 | TMIE | c.315G>A (p.Lys105=) c.156G>A (p.Lys52=) c.213G>A (p.Lys71=) | dbSNP |
| 3 | g.46709229G>C | CA352480983 | TMIE | c.315G>C (p.Lys105Asn) c.156G>C (p.Lys52Asn) c.213G>C (p.Lys71Asn) | |
| 3 | g.46709229G= | CA1362234590 | TMIE | c.315G= (p.Lys105=) c.156G= (p.Lys52=) c.213G= (p.Lys71=) | |
| 3 | g.46709229G>T | CA352480985 | TMIE | c.315G>T (p.Lys105Asn) c.156G>T (p.Lys52Asn) c.213G>T (p.Lys71Asn) | |
| 3 | g.46709230_46709232del | CA1362234589 | TMIE | c.316_318del (p.Leu106del) c.157_159del (p.Leu53del) c.214_216del (p.Leu72del) | dbSNP |
| 3 | g.46709230C>A | CA352480987 | TMIE | c.316C>A (p.Leu106Met) c.157C>A (p.Leu53Met) c.214C>A (p.Leu72Met) | |
| 3 | g.46709230C>G | CA352480989 | TMIE | c.316C>G (p.Leu106Val) c.157C>G (p.Leu53Val) c.214C>G (p.Leu72Val) | gnomAD v4 |
| 3 | g.46709230C>T | CA433459184 | TMIE | c.316C>T (p.Leu106=) c.157C>T (p.Leu53=) c.214C>T (p.Leu72=) | |
| 3 | g.46709231T>A | CA352480995 | TMIE | c.317T>A (p.Leu106Gln) c.158T>A (p.Leu53Gln) c.215T>A (p.Leu72Gln) | |
| 3 | g.46709231T>C | CA352481007 | TMIE | c.317T>C (p.Leu106Pro) c.158T>C (p.Leu53Pro) c.215T>C (p.Leu72Pro) | dbSNP |
| 3 | g.46709231T>G | CA352481004 | TMIE | c.317T>G (p.Leu106Arg) c.158T>G (p.Leu53Arg) c.215T>G (p.Leu72Arg) | |
| 3 | g.46709231T= | CA1362234591 | TMIE | c.317T= (p.Leu106=) c.158T= (p.Leu53=) c.215T= (p.Leu72=) | |
| 3 | g.46709232G>A | CA433459188 | TMIE | c.318G>A (p.Leu106=) c.159G>A (p.Leu53=) c.216G>A (p.Leu72=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46709232G>C | CA433459186 | TMIE | c.318G>C (p.Leu106=) c.159G>C (p.Leu53=) c.216G>C (p.Leu72=) | |
| 3 | g.46709232G= | CA1362234592 | TMIE | c.318G= (p.Leu106=) c.159G= (p.Leu53=) c.216G= (p.Leu72=) | |
| 3 | g.46709232G>T | CA433459187 | TMIE | c.318G>T (p.Leu106=) c.159G>T (p.Leu53=) c.216G>T (p.Leu72=) | |
| 3 | g.46709233G>A | CA352481008 | TMIE | c.319G>A (p.Glu107Lys) c.160G>A (p.Glu54Lys) c.217G>A (p.Glu73Lys) | gnomAD v4 |
| 3 | g.46709233G>C | CA352481010 | TMIE | c.319G>C (p.Glu107Gln) c.160G>C (p.Glu54Gln) c.217G>C (p.Glu73Gln) | |
| 3 | g.46709233G>T | CA352481009 | TMIE | c.319G>T (p.Glu107Ter) c.160G>T (p.Glu54Ter) c.217G>T (p.Glu73Ter) | |
| 3 | g.46709234A>C | CA352481012 | TMIE | c.320A>C (p.Glu107Ala) c.161A>C (p.Glu54Ala) c.218A>C (p.Glu73Ala) | |
| 3 | g.46709234A>G | CA352481014 | TMIE | c.320A>G (p.Glu107Gly) c.161A>G (p.Glu54Gly) c.218A>G (p.Glu73Gly) | |
| 3 | g.46709234A>T | CA352481015 | TMIE | c.320A>T (p.Glu107Val) c.161A>T (p.Glu54Val) c.218A>T (p.Glu73Val) | |
| 3 | g.46709235G>A | CA433459194 | TMIE | c.321G>A (p.Glu107=) c.162G>A (p.Glu54=) c.219G>A (p.Glu73=) | |
| 3 | g.46709235G>C | CA352481016 | TMIE | c.321G>C (p.Glu107Asp) c.162G>C (p.Glu54Asp) c.219G>C (p.Glu73Asp) | |
| 3 | g.46709235G>T | CA352481020 | TMIE | c.321G>T (p.Glu107Asp) c.162G>T (p.Glu54Asp) c.219G>T (p.Glu73Asp) | |
| 3 | g.46709236A>C | CA352481024 | TMIE | c.322A>C (p.Thr108Pro) c.163A>C (p.Thr55Pro) c.220A>C (p.Thr74Pro) | |
| 3 | g.46709236A>G | CA352481026 | TMIE | c.322A>G (p.Thr108Ala) c.163A>G (p.Thr55Ala) c.220A>G (p.Thr74Ala) | |
| 3 | g.46709236A>T | CA352481027 | TMIE | c.322A>T (p.Thr108Ser) c.163A>T (p.Thr55Ser) c.220A>T (p.Thr74Ser) | |
| 3 | g.46709237C>A | CA352481028 | TMIE | c.323C>A (p.Thr108Asn) c.164C>A (p.Thr55Asn) c.221C>A (p.Thr74Asn) | |
| 3 | g.46709237C>G | CA352481030 | TMIE | c.323C>G (p.Thr108Ser) c.164C>G (p.Thr55Ser) c.221C>G (p.Thr74Ser) | |
| 3 | g.46709237C>T | CA352481033 | TMIE | c.323C>T (p.Thr108Ile) c.164C>T (p.Thr55Ile) c.221C>T (p.Thr74Ile) | gnomAD v4 |
| 3 | g.46709238T>A | CA433459198 | TMIE | c.324T>A (p.Thr108=) c.165T>A (p.Thr55=) c.222T>A (p.Thr74=) | |
| 3 | g.46709238T>C | CA433459199 | TMIE | c.324T>C (p.Thr108=) c.165T>C (p.Thr55=) c.222T>C (p.Thr74=) | |
| 3 | g.46709238T>G | CA433459200 | TMIE | c.324T>G (p.Thr108=) c.165T>G (p.Thr55=) c.222T>G (p.Thr74=) | dbSNP |
| 3 | g.46709238T= | CA1362234593 | TMIE | c.324T= (p.Thr108=) c.165T= (p.Thr55=) c.222T= (p.Thr74=) | |
| 3 | g.46709239G>A | CA352481035 | TMIE | c.325G>A (p.Val109Met) c.166G>A (p.Val56Met) c.223G>A (p.Val75Met) | |
| 3 | g.46709239G>C | CA352481038 | TMIE | c.325G>C (p.Val109Leu) c.166G>C (p.Val56Leu) c.223G>C (p.Val75Leu) | |
| 3 | g.46709239G>T | CA352481036 | TMIE | c.325G>T (p.Val109Leu) c.166G>T (p.Val56Leu) c.223G>T (p.Val75Leu) | |
| 3 | g.46709240T>A | CA352481040 | TMIE | c.326T>A (p.Val109Glu) c.167T>A (p.Val56Glu) c.224T>A (p.Val75Glu) | |
| 3 | g.46709240T>C | CA352481041 | TMIE | c.326T>C (p.Val109Ala) c.167T>C (p.Val56Ala) c.224T>C (p.Val75Ala) | |
| 3 | g.46709240T>G | CA352481045 | TMIE | c.326T>G (p.Val109Gly) c.167T>G (p.Val56Gly) c.224T>G (p.Val75Gly) | |
| 3 | g.46709241G>A | CA433459206 | TMIE | c.327G>A (p.Val109=) c.168G>A (p.Val56=) c.225G>A (p.Val75=) | COSMIC |
| 3 | g.46709241G>C | CA433459207 | TMIE | c.327G>C (p.Val109=) c.168G>C (p.Val56=) c.225G>C (p.Val75=) | |
| 3 | g.46709241G>T | CA433459205 | TMIE | c.327G>T (p.Val109=) c.168G>T (p.Val56=) c.225G>T (p.Val75=) | |
| 3 | g.46709242C>A | CA352481047 | TMIE | c.328C>A (p.Pro110Thr) c.169C>A (p.Pro57Thr) c.226C>A (p.Pro76Thr) | |
| 3 | g.46709242C= | CA1362234594 | TMIE | c.328C= (p.Pro110=) c.169C= (p.Pro57=) c.226C= (p.Pro76=) | |
| 3 | g.46709242C>G | CA352481048 | TMIE | c.328C>G (p.Pro110Ala) c.169C>G (p.Pro57Ala) c.226C>G (p.Pro76Ala) | dbSNP gnomAD v2 |
| 3 | g.46709242C>T | CA352481049 | TMIE | c.328C>T (p.Pro110Ser) c.169C>T (p.Pro57Ser) c.226C>T (p.Pro76Ser) | |
| 3 | g.46709243C>A | CA352481050 | TMIE | c.329C>A (p.Pro110Gln) c.170C>A (p.Pro57Gln) c.227C>A (p.Pro76Gln) | |
| 3 | g.46709243C= | CA1362234595 | TMIE | c.329C= (p.Pro110=) c.170C= (p.Pro57=) c.227C= (p.Pro76=) | |
| 3 | g.46709243C>G | CA352481051 | TMIE | c.329C>G (p.Pro110Arg) c.170C>G (p.Pro57Arg) c.227C>G (p.Pro76Arg) | |
| 3 | g.46709243C>T | CA352481052 | TMIE | c.329C>T (p.Pro110Leu) c.170C>T (p.Pro57Leu) c.227C>T (p.Pro76Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46709244A>C | CA433459210 | TMIE | c.330A>C (p.Pro110=) c.171A>C (p.Pro57=) c.228A>C (p.Pro76=) | |
| 3 | g.46709244A>G | CA433459211 | TMIE | c.330A>G (p.Pro110=) c.171A>G (p.Pro57=) c.228A>G (p.Pro76=) | gnomAD v4 |
| 3 | g.46709244A>T | CA433459212 | TMIE | c.330A>T (p.Pro110=) c.171A>T (p.Pro57=) c.228A>T (p.Pro76=) | |
| 3 | g.46709245C>A | CA352481056 | TMIE | c.331C>A (p.Pro111Thr) c.172C>A (p.Pro58Thr) c.229C>A (p.Pro77Thr) | |
| 3 | g.46709245C= | CA1362234596 | TMIE | c.331C= (p.Pro111=) c.172C= (p.Pro58=) c.229C= (p.Pro77=) | |
| 3 | g.46709245C>G | CA352481058 | TMIE | c.331C>G (p.Pro111Ala) c.172C>G (p.Pro58Ala) c.229C>G (p.Pro77Ala) | |
| 3 | g.46709245C>T | CA73732920 | TMIE | c.331C>T (p.Pro111Ser) c.172C>T (p.Pro58Ser) c.229C>T (p.Pro77Ser) | dbSNP |
| 3 | g.46709246C>A | CA2357989 | TMIE | c.332C>A (p.Pro111His) c.173C>A (p.Pro58His) c.230C>A (p.Pro77His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46709246C= | CA1362234597 | TMIE | c.332C= (p.Pro111=) c.173C= (p.Pro58=) c.230C= (p.Pro77=) | |
| 3 | g.46709246C>G | CA352481060 | TMIE | c.332C>G (p.Pro111Arg) c.173C>G (p.Pro58Arg) c.230C>G (p.Pro77Arg) | |
| 3 | g.46709246C>T | CA352481062 | TMIE | c.332C>T (p.Pro111Leu) c.173C>T (p.Pro58Leu) c.230C>T (p.Pro77Leu) | |
| 3 | g.46709247C>A | CA433459215 | TMIE | c.333C>A (p.Pro111=) c.174C>A (p.Pro58=) c.231C>A (p.Pro77=) | |
| 3 | g.46709247C= | CA1362234598 | TMIE | c.333C= (p.Pro111=) c.174C= (p.Pro58=) c.231C= (p.Pro77=) | |
| 3 | g.46709247C>G | CA433459218 | TMIE | c.333C>G (p.Pro111=) c.174C>G (p.Pro58=) c.231C>G (p.Pro77=) | |
| 3 | g.46709247C>T | CA73732933 | TMIE | c.333C>T (p.Pro111=) c.174C>T (p.Pro58=) c.231C>T (p.Pro77=) | dbSNP |
| 3 | g.46709248C>A | CA352481065 | TMIE | c.334C>A (p.Leu112Ile) c.175C>A (p.Leu59Ile) c.232C>A (p.Leu78Ile) | |
| 3 | g.46709248C>G | CA352481066 | TMIE | c.334C>G (p.Leu112Val) c.175C>G (p.Leu59Val) c.232C>G (p.Leu78Val) | |
| 3 | g.46709248C>T | CA352481068 | TMIE | c.334C>T (p.Leu112Phe) c.175C>T (p.Leu59Phe) c.232C>T (p.Leu78Phe) | |
| 3 | g.46709249T>A | CA352481069 | TMIE | c.335T>A (p.Leu112His) c.176T>A (p.Leu59His) c.233T>A (p.Leu78His) | gnomAD v4 |
| 3 | g.46709249T>C | CA352481070 | TMIE | c.335T>C (p.Leu112Pro) c.176T>C (p.Leu59Pro) c.233T>C (p.Leu78Pro) | |
| 3 | g.46709249T>G | CA352481073 | TMIE | c.335T>G (p.Leu112Arg) c.176T>G (p.Leu59Arg) c.233T>G (p.Leu78Arg) | gnomAD v4 |
| 3 | g.46709250C>A | CA433459226 | TMIE | c.336C>A (p.Leu112=) c.177C>A (p.Leu59=) c.234C>A (p.Leu78=) | |
| 3 | g.46709250C= | CA1362234599 | TMIE | c.336C= (p.Leu112=) c.177C= (p.Leu59=) c.234C= (p.Leu78=) | |
| 3 | g.46709250C>G | CA433459227 | TMIE | c.336C>G (p.Leu112=) c.177C>G (p.Leu59=) c.234C>G (p.Leu78=) | |
| 3 | g.46709250C>T | CA433459229 | TMIE | c.336C>T (p.Leu112=) c.177C>T (p.Leu59=) c.234C>T (p.Leu78=) | dbSNP |
| 3 | g.46709251A>C | CA352481075 | TMIE | c.337A>C (p.Asn113His) c.178A>C (p.Asn60His) c.235A>C (p.Asn79His) | |
| 3 | g.46709251A>G | CA352481078 | TMIE | c.337A>G (p.Asn113Asp) c.178A>G (p.Asn60Asp) c.235A>G (p.Asn79Asp) | |
| 3 | g.46709251A>T | CA352481080 | TMIE | c.337A>T (p.Asn113Tyr) c.178A>T (p.Asn60Tyr) c.235A>T (p.Asn79Tyr) | |
| 3 | g.46709252A= | CA1362234600 | TMIE | c.338A= (p.Asn113=) c.179A= (p.Asn60=) c.236A= (p.Asn79=) | |
| 3 | g.46709252A>C | CA352481086 | TMIE | c.338A>C (p.Asn113Thr) c.179A>C (p.Asn60Thr) c.236A>C (p.Asn79Thr) | |
| 3 | g.46709252A>G | CA2357990 | TMIE | c.338A>G (p.Asn113Ser) c.179A>G (p.Asn60Ser) c.236A>G (p.Asn79Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.46709252A>T | CA352481083 | TMIE | c.338A>T (p.Asn113Ile) c.179A>T (p.Asn60Ile) c.236A>T (p.Asn79Ile) | |
| 3 | g.46709252_46709253del | CA2665467532 | TMIE | c.338_339del (p.Asn113ArgfsTer10) c.179_180del (p.Asn60ArgfsTer10) c.236_237del (p.Asn79ArgfsTer9) | gnomAD v4 |
| 3 | g.46709253T>A | CA352481087 | TMIE | c.339T>A (p.Asn113Lys) c.180T>A (p.Asn60Lys) c.237T>A (p.Asn79Lys) | gnomAD v4 |
| 3 | g.46709253T>C | CA433459232 | TMIE | c.339T>C (p.Asn113=) c.180T>C (p.Asn60=) c.237T>C (p.Asn79=) | |
| 3 | g.46709253T>G | CA2357991 | TMIE | c.339T>G (p.Asn113Lys) c.180T>G (p.Asn60Lys) c.237T>G (p.Asn79Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46709253T= | CA1362234601 | TMIE | c.339T= (p.Asn113=) c.180T= (p.Asn60=) c.237T= (p.Asn79=) | |
| 3 | g.46709254G>A | CA352481089 | TMIE | c.340G>A (p.Glu114Lys) c.181G>A (p.Glu61Lys) c.238G>A (p.Glu80Lys) | |
| 3 | g.46709254G>C | CA2357992 | TMIE | c.340G>C (p.Glu114Gln) c.181G>C (p.Glu61Gln) c.238G>C (p.Glu80Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46709254G= | CA1362234602 | TMIE | c.340G= (p.Glu114=) c.181G= (p.Glu61=) c.238G= (p.Glu80=) | |
| 3 | g.46709254G>T | CA352481095 | TMIE | c.340G>T (p.Glu114Ter) c.181G>T (p.Glu61Ter) c.238G>T (p.Glu80Ter) | |
| 3 | g.46709255A>C | CA352481096 | TMIE | c.341A>C (p.Glu114Ala) c.182A>C (p.Glu61Ala) c.239A>C (p.Glu80Ala) | |
| 3 | g.46709255A>G | CA352481098 | TMIE | c.341A>G (p.Glu114Gly) c.182A>G (p.Glu61Gly) c.239A>G (p.Glu80Gly) | |
| 3 | g.46709255A>T | CA352481101 | TMIE | c.341A>T (p.Glu114Val) c.182A>T (p.Glu61Val) c.239A>T (p.Glu80Val) | |
| 3 | g.46709256G>A | CA433459239 | TMIE | c.342G>A (p.Glu114=) c.183G>A (p.Glu61=) c.240G>A (p.Glu80=) | |
| 3 | g.46709256G>C | CA352481102 | TMIE | c.342G>C (p.Glu114Asp) c.183G>C (p.Glu61Asp) c.240G>C (p.Glu80Asp) | |
| 3 | g.46709256G>T | CA352481103 | TMIE | c.342G>T (p.Glu114Asp) c.183G>T (p.Glu61Asp) c.240G>T (p.Glu80Asp) | |
| 3 | g.46709257C>A | CA352481105 | TMIE | c.343C>A (p.Leu115Ile) c.184C>A (p.Leu62Ile) c.241C>A (p.Leu81Ile) | COSMIC |
| 3 | g.46709257C>G | CA352481106 | TMIE | c.343C>G (p.Leu115Val) c.184C>G (p.Leu62Val) c.241C>G (p.Leu81Val) | |
| 3 | g.46709257C>T | CA352481108 | TMIE | c.343C>T (p.Leu115Phe) c.184C>T (p.Leu62Phe) c.241C>T (p.Leu81Phe) | gnomAD v4 |