Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |