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 |
|---|---|---|---|---|---|
| 1 | g.1535667A>C | CA337866732 | TMEM240 | c.295T>G (p.Cys99Gly) | |
| 1 | g.1535667A>G | CA337866733 | TMEM240 | c.295T>C (p.Cys99Arg) | |
| 1 | g.1535667A>T | CA337866734 | TMEM240 | c.295T>A (p.Cys99Ser) | |
| 1 | g.1535670del | CA415768636 | TMEM240 | c.295del (p.Cys99AlafsTer?) | gnomAD v4 |
| 1 | g.1535668A>C | CA337866735 | TMEM240 | c.294T>G (p.Phe98Leu) | |
| 1 | g.1535668A>G | CA415768637 | TMEM240 | c.294T>C (p.Phe98=) | |
| 1 | g.1535668A>T | CA337866736 | TMEM240 | c.294T>A (p.Phe98Leu) | |
| 1 | g.1535669A= | CA1149192783 | TMEM240 | c.293T= (p.Phe98=) | |
| 1 | g.1535669A>C | CA337866739 | TMEM240 | c.293T>G (p.Phe98Cys) | |
| 1 | g.1535669A>G | CA337866740 | TMEM240 | c.293T>C (p.Phe98Ser) | dbSNP |
| 1 | g.1535669A>T | CA337866741 | TMEM240 | c.293T>A (p.Phe98Tyr) | |
| 1 | g.1535670A>C | CA337866743 | TMEM240 | c.292T>G (p.Phe98Val) | |
| 1 | g.1535670A>G | CA337866745 | TMEM240 | c.292T>C (p.Phe98Leu) | |
| 1 | g.1535670A>T | CA337866756 | TMEM240 | c.292T>A (p.Phe98Ile) | |
| 1 | g.1535671G>A | CA415768638 | TMEM240 | c.291C>T (p.Gly97=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1535671G>C | CA16796898 | TMEM240 | c.291C>G (p.Gly97=) | dbSNP |
| 1 | g.1535671G= | CA1149192786 | TMEM240 | c.291C= (p.Gly97=) | |
| 1 | g.1535671G>T | CA415768639 | TMEM240 | c.291C>A (p.Gly97=) | |
| 1 | g.1535672C>A | CA337866762 | TMEM240 | c.290G>T (p.Gly97Val) | |
| 1 | g.1535672C>G | CA337866760 | TMEM240 | c.290G>C (p.Gly97Ala) | |
| 1 | g.1535672C>T | CA337866759 | TMEM240 | c.290G>A (p.Gly97Asp) | |
| 1 | g.1535673C>A | CA337866764 | TMEM240 | c.289G>T (p.Gly97Cys) | |
| 1 | g.1535673C= | CA1149192795 | TMEM240 | c.289G= (p.Gly97=) | |
| 1 | g.1535673C>G | CA337866765 | TMEM240 | c.289G>C (p.Gly97Arg) | |
| 1 | g.1535673C>T | CA16796901 | TMEM240 | c.289G>A (p.Gly97Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1535674C>A | CA415768640 | TMEM240 | c.288G>T (p.Leu96=) | |
| 1 | g.1535674C= | CA1149192803 | TMEM240 | c.288G= (p.Leu96=) | |
| 1 | g.1535674C>G | CA415768641 | TMEM240 | c.288G>C (p.Leu96=) | |
| 1 | g.1535674C>T | CA526685 | TMEM240 | c.288G>A (p.Leu96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535675A>C | CA337866770 | TMEM240 | c.287T>G (p.Leu96Arg) | |
| 1 | g.1535675A>G | CA337866772 | TMEM240 | c.287T>C (p.Leu96Pro) | |
| 1 | g.1535675A>T | CA337866773 | TMEM240 | c.287T>A (p.Leu96Gln) | |
| 1 | g.1535676G>A | CA415768642 | TMEM240 | c.286C>T (p.Leu96=) | COSMIC |
| 1 | g.1535676G>C | CA337866775 | TMEM240 | c.286C>G (p.Leu96Val) | |
| 1 | g.1535676G>T | CA337866777 | TMEM240 | c.286C>A (p.Leu96Met) | |
| 1 | g.1535676_1535680del | CA645511464 | TMEM240 | c.282_286del (p.Leu95GlyfsTer?) | COSMIC |
| 1 | g.1535677C>A | CA415768644 | TMEM240 | c.285G>T (p.Leu95=) | dbSNP |
| 1 | g.1535677C= | CA1149192809 | TMEM240 | c.285G= (p.Leu95=) | |
| 1 | g.1535677C>G | CA415768645 | TMEM240 | c.285G>C (p.Leu95=) | |
| 1 | g.1535677C>T | CA415768643 | TMEM240 | c.285G>A (p.Leu95=) | |
| 1 | g.1535678A>C | CA337866778 | TMEM240 | c.284T>G (p.Leu95Arg) | |
| 1 | g.1535678A>G | CA337866779 | TMEM240 | c.284T>C (p.Leu95Pro) | |
| 1 | g.1535678A>T | CA337866781 | TMEM240 | c.284T>A (p.Leu95Gln) | |
| 1 | g.1535679G>A | CA415768646 | TMEM240 | c.283C>T (p.Leu95=) | gnomAD v4 |
| 1 | g.1535679G>C | CA337866785 | TMEM240 | c.283C>G (p.Leu95Val) | |
| 1 | g.1535679G>T | CA337866788 | TMEM240 | c.283C>A (p.Leu95Met) | |
| 1 | g.1535680C>A | CA415768647 | TMEM240 | c.282G>T (p.Leu94=) | |
| 1 | g.1535680C>G | CA415768648 | TMEM240 | c.282G>C (p.Leu94=) | |
| 1 | g.1535680C>T | CA415768649 | TMEM240 | c.282G>A (p.Leu94=) | |
| 1 | g.1535681A>C | CA337866790 | TMEM240 | c.281T>G (p.Leu94Arg) | |
| 1 | g.1535681A>G | CA337866792 | TMEM240 | c.281T>C (p.Leu94Pro) | |
| 1 | g.1535681A>T | CA337866797 | TMEM240 | c.281T>A (p.Leu94Gln) | |
| 1 | g.1535682G>A | CA415768650 | TMEM240 | c.280C>T (p.Leu94=) | |
| 1 | g.1535682G>C | CA337866799 | TMEM240 | c.280C>G (p.Leu94Val) | |
| 1 | g.1535682G= | CA1149192814 | TMEM240 | c.280C= (p.Leu94=) | |
| 1 | g.1535682G>T | CA337866801 | TMEM240 | c.280C>A (p.Leu94Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535683C>A | CA415768651 | TMEM240 | c.279G>T (p.Gly93=) | dbSNP |
| 1 | g.1535683C= | CA1149192820 | TMEM240 | c.279G= (p.Gly93=) | |
| 1 | g.1535683C>G | CA415768653 | TMEM240 | c.279G>C (p.Gly93=) | |
| 1 | g.1535683C>T | CA415768652 | TMEM240 | c.279G>A (p.Gly93=) | |
| 1 | g.1535684C>A | CA337866803 | TMEM240 | c.278G>T (p.Gly93Val) | |
| 1 | g.1535684C>G | CA337866804 | TMEM240 | c.278G>C (p.Gly93Ala) | |
| 1 | g.1535684C>T | CA337866807 | TMEM240 | c.278G>A (p.Gly93Glu) | |
| 1 | g.1535685C>A | CA337866809 | TMEM240 | c.277G>T (p.Gly93Trp) | gnomAD v4 |
| 1 | g.1535685C>G | CA337866811 | TMEM240 | c.277G>C (p.Gly93Arg) | |
| 1 | g.1535685C>T | CA337866814 | TMEM240 | c.277G>A (p.Gly93Arg) | |
| 1 | g.1535686C>A | CA415768654 | TMEM240 | c.276G>T (p.Leu92=) | |
| 1 | g.1535686C>G | CA415768655 | TMEM240 | c.276G>C (p.Leu92=) | |
| 1 | g.1535686C>T | CA415768656 | TMEM240 | c.276G>A (p.Leu92=) | gnomAD v4 |
| 1 | g.1535687A>C | CA337866817 | TMEM240 | c.275T>G (p.Leu92Arg) | |
| 1 | g.1535687A>G | CA337866819 | TMEM240 | c.275T>C (p.Leu92Pro) | |
| 1 | g.1535687A>T | CA337866822 | TMEM240 | c.275T>A (p.Leu92Gln) | |
| 1 | g.1535688G>A | CA415768657 | TMEM240 | c.274C>T (p.Leu92=) | |
| 1 | g.1535688G>C | CA337866823 | TMEM240 | c.274C>G (p.Leu92Val) | |
| 1 | g.1535688G>T | CA337866824 | TMEM240 | c.274C>A (p.Leu92Met) | |
| 1 | g.1535689C>A | CA337866827 | TMEM240 | c.273G>T (p.Met91Ile) | |
| 1 | g.1535689C>G | CA337866828 | TMEM240 | c.273G>C (p.Met91Ile) | |
| 1 | g.1535689C>T | CA337866831 | TMEM240 | c.273G>A (p.Met91Ile) | gnomAD v4 |
| 1 | g.1535690A= | CA1149192827 | TMEM240 | c.272T= (p.Met91=) | |
| 1 | g.1535690A>C | CA337866832 | TMEM240 | c.272T>G (p.Met91Arg) | |
| 1 | g.1535690A>G | CA337866835 | TMEM240 | c.272T>C (p.Met91Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1535690A>T | CA337866838 | TMEM240 | c.272T>A (p.Met91Lys) | |
| 1 | g.1535691T>A | CA337866842 | TMEM240 | c.271A>T (p.Met91Leu) | |
| 1 | g.1535691T>C | CA337866844 | TMEM240 | c.271A>G (p.Met91Val) | |
| 1 | g.1535691T>G | CA337866845 | TMEM240 | c.271A>C (p.Met91Leu) | gnomAD v4 |
| 1 | g.1535692G>A | CA415768660 | TMEM240 | c.270C>T (p.Leu90=) | |
| 1 | g.1535692G>C | CA415768658 | TMEM240 | c.270C>G (p.Leu90=) | |
| 1 | g.1535692G>T | CA415768659 | TMEM240 | c.270C>A (p.Leu90=) | |
| 1 | g.1535693A>C | CA337866848 | TMEM240 | c.269T>G (p.Leu90Arg) | |
| 1 | g.1535693A>G | CA337866849 | TMEM240 | c.269T>C (p.Leu90Pro) | gnomAD v4 |
| 1 | g.1535693A>T | CA337866850 | TMEM240 | c.269T>A (p.Leu90His) | |
| 1 | g.1535694G>A | CA337866852 | TMEM240 | c.268C>T (p.Leu90Phe) | gnomAD v4 |
| 1 | g.1535694G>C | CA337866853 | TMEM240 | c.268C>G (p.Leu90Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535694G= | CA1149192834 | TMEM240 | c.268C= (p.Leu90=) | |
| 1 | g.1535694G>T | CA337866851 | TMEM240 | c.268C>A (p.Leu90Ile) | |
| 1 | g.1535695G>A | CA415768661 | TMEM240 | c.267C>T (p.Asp89=) | gnomAD v4 |
| 1 | g.1535695G>C | CA337866856 | TMEM240 | c.267C>G (p.Asp89Glu) | |
| 1 | g.1535695G>T | CA337866855 | TMEM240 | c.267C>A (p.Asp89Glu) | |
| 1 | g.1535696T>A | CA337866863 | TMEM240 | c.266A>T (p.Asp89Val) | |
| 1 | g.1535696T>C | CA337866859 | TMEM240 | c.266A>G (p.Asp89Gly) | gnomAD v4 |
| 1 | g.1535696T>G | CA337866861 | TMEM240 | c.266A>C (p.Asp89Ala) | |
| 1 | g.1535697C>A | CA337866865 | TMEM240 | c.265G>T (p.Asp89Tyr) | |
| 1 | g.1535697C= | CA1149192837 | TMEM240 | c.265G= (p.Asp89=) | |
| 1 | g.1535697C>G | CA337866867 | TMEM240 | c.265G>C (p.Asp89His) | |
| 1 | g.1535697C>T | CA526686 | TMEM240 | c.265G>A (p.Asp89Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535698G>A | CA526687 | TMEM240 | c.264C>T (p.Ile88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535698G>C | CA337866871 | TMEM240 | c.264C>G (p.Ile88Met) | gnomAD v4 |
| 1 | g.1535698G= | CA1149192843 | TMEM240 | c.264C= (p.Ile88=) | |
| 1 | g.1535698G>T | CA16796931 | TMEM240 | c.264C>A (p.Ile88=) | dbSNP gnomAD v4 |
| 1 | g.1535699A>C | CA337866875 | TMEM240 | c.263T>G (p.Ile88Ser) | |
| 1 | g.1535699A>G | CA337866877 | TMEM240 | c.263T>C (p.Ile88Thr) | |
| 1 | g.1535699A>T | CA337866880 | TMEM240 | c.263T>A (p.Ile88Asn) | |
| 1 | g.1535700T>A | CA337866883 | TMEM240 | c.262A>T (p.Ile88Phe) | |
| 1 | g.1535700T>C | CA337866885 | TMEM240 | c.262A>G (p.Ile88Val) | |
| 1 | g.1535700T>G | CA337866886 | TMEM240 | c.262A>C (p.Ile88Leu) | |
| 1 | g.1535700_1535703delinsTCTC | CA1149192859 | TMEM240 | c.259_262delinsGAGA (p.Glu87=) | |
| 1 | g.1535701C>A | CA337866891 | TMEM240 | c.261G>T (p.Glu87Asp) | gnomAD v4 |
| 1 | g.1535701C>G | CA337866888 | TMEM240 | c.261G>C (p.Glu87Asp) | |
| 1 | g.1535701C>T | CA415768662 | TMEM240 | c.261G>A (p.Glu87=) | |
| 1 | g.1535703_1535705del | CA526688 | TMEM240 | c.259_261del (p.Glu87del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535702T>A | CA337866893 | TMEM240 | c.260A>T (p.Glu87Val) | |
| 1 | g.1535702T>C | CA337866894 | TMEM240 | c.260A>G (p.Glu87Gly) | |
| 1 | g.1535702T>G | CA337866896 | TMEM240 | c.260A>C (p.Glu87Ala) | |
| 1 | g.1535703C>A | CA337866900 | TMEM240 | c.259G>T (p.Glu87Ter) | |
| 1 | g.1535703C= | CA1149192865 | TMEM240 | c.259G= (p.Glu87=) | |
| 1 | g.1535703C>G | CA337866902 | TMEM240 | c.259G>C (p.Glu87Gln) | |
| 1 | g.1535703C>T | CA337866903 | TMEM240 | c.259G>A (p.Glu87Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1535704C>A | CA337866905 | TMEM240 | c.258G>T (p.Gln86His) | |
| 1 | g.1535704C= | CA1149192869 | TMEM240 | c.258G= (p.Gln86=) | |
| 1 | g.1535704C>G | CA337866907 | TMEM240 | c.258G>C (p.Gln86His) | |
| 1 | g.1535704C>T | CA415768663 | TMEM240 | c.258G>A (p.Gln86=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1535705T>A | CA337866908 | TMEM240 | c.257A>T (p.Gln86Leu) | |
| 1 | g.1535705T>C | CA337866910 | TMEM240 | c.257A>G (p.Gln86Arg) | gnomAD v4 |
| 1 | g.1535705T>G | CA337866911 | TMEM240 | c.257A>C (p.Gln86Pro) | |
| 1 | g.1535706G>A | CA337866917 | TMEM240 | c.256C>T (p.Gln86Ter) | |
| 1 | g.1535706G>C | CA337866915 | TMEM240 | c.256C>G (p.Gln86Glu) | |
| 1 | g.1535706G>T | CA337866914 | TMEM240 | c.256C>A (p.Gln86Lys) | |
| 1 | g.1535707C>A | CA337866919 | TMEM240 | c.255G>T (p.Lys85Asn) | |
| 1 | g.1535707C= | CA1149192874 | TMEM240 | c.255G= (p.Lys85=) | |
| 1 | g.1535707C>G | CA337866920 | TMEM240 | c.255G>C (p.Lys85Asn) | |
| 1 | g.1535707C>T | CA415768664 | TMEM240 | c.255G>A (p.Lys85=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1535708T>A | CA337866923 | TMEM240 | c.254A>T (p.Lys85Met) | |
| 1 | g.1535708T>C | CA337866924 | TMEM240 | c.254A>G (p.Lys85Arg) | |
| 1 | g.1535708T>G | CA337866927 | TMEM240 | c.254A>C (p.Lys85Thr) | |
| 1 | g.1535708T= | CA1149192879 | TMEM240 | c.254A= (p.Lys85=) | |
| 1 | g.1535708_1535709insGGGGCTGCTGC | CA916089823 | TMEM240 | c.253_254insGCAGCAGCCCC (p.Lys85SerfsTer?) | dbSNP |
| 1 | g.1535709T>A | CA337866932 | TMEM240 | c.253A>T (p.Lys85Ter) | |
| 1 | g.1535709T>C | CA337866930 | TMEM240 | c.253A>G (p.Lys85Glu) | |
| 1 | g.1535709T>G | CA337866929 | TMEM240 | c.253A>C (p.Lys85Gln) | |
| 1 | g.1535710G>A | CA415768665 | TMEM240 | c.252C>T (p.Thr84=) | gnomAD v4 |
| 1 | g.1535710G>C | CA415768666 | TMEM240 | c.252C>G (p.Thr84=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1535710G= | CA1149192891 | TMEM240 | c.252C= (p.Thr84=) | |
| 1 | g.1535710G>T | CA415768667 | TMEM240 | c.252C>A (p.Thr84=) | |
| 1 | g.1535711G>A | CA337866935 | TMEM240 | c.251C>T (p.Thr84Ile) | |
| 1 | g.1535711G>C | CA337866938 | TMEM240 | c.251C>G (p.Thr84Ser) | |
| 1 | g.1535711G= | CA1149192895 | TMEM240 | c.251C= (p.Thr84=) | |
| 1 | g.1535711G>T | CA337866939 | TMEM240 | c.251C>A (p.Thr84Asn) | |
| 1 | g.1535711_1535712insGC | CA916089824 | TMEM240 | c.250_251insGC (p.Thr84SerfsTer?) | dbSNP |
| 1 | g.1535712T>A | CA337866942 | TMEM240 | c.250A>T (p.Thr84Ser) | |
| 1 | g.1535712T>C | CA337866944 | TMEM240 | c.250A>G (p.Thr84Ala) | |
| 1 | g.1535712T>G | CA337866946 | TMEM240 | c.250A>C (p.Thr84Pro) | |
| 1 | g.1535712T= | CA1149192896 | TMEM240 | c.250A= (p.Thr84=) | |
| 1 | g.1535712_1535713insTTTG | CA916089825 | TMEM240 | c.249_250insCAAA (p.Thr84GlnfsTer?) | dbSNP |
| 1 | g.1535713C>A | CA415768668 | TMEM240 | c.249G>T (p.Val83=) | |
| 1 | g.1535713C= | CA1149192900 | TMEM240 | c.249G= (p.Val83=) | |
| 1 | g.1535713C>G | CA415768669 | TMEM240 | c.249G>C (p.Val83=) | |
| 1 | g.1535713C>T | CA415768670 | TMEM240 | c.249G>A (p.Val83=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535714A= | CA1149192903 | TMEM240 | c.248T= (p.Val83=) | |
| 1 | g.1535714A>C | CA337866948 | TMEM240 | c.248T>G (p.Val83Gly) | |
| 1 | g.1535714A>G | CA16796932 | TMEM240 | c.248T>C (p.Val83Ala) | dbSNP gnomAD v4 |
| 1 | g.1535714A>T | CA337866950 | TMEM240 | c.248T>A (p.Val83Glu) | |
| 1 | g.1535715C>A | CA337866951 | TMEM240 | c.247G>T (p.Val83Leu) | |
| 1 | g.1535715C>G | CA337866952 | TMEM240 | c.247G>C (p.Val83Leu) | |
| 1 | g.1535715C>T | CA337866953 | TMEM240 | c.247G>A (p.Val83Met) | gnomAD v4 |
| 1 | g.1535716A= | CA1149192910 | TMEM240 | c.246T= (p.Ser82=) | |
| 1 | g.1535716A>C | CA337866954 | TMEM240 | c.246T>G (p.Ser82Arg) | |
| 1 | g.1535716A>G | CA415768671 | TMEM240 | c.246T>C (p.Ser82=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1535716A>T | CA337866955 | TMEM240 | c.246T>A (p.Ser82Arg) | gnomAD v4 |
| 1 | g.1535717C>A | CA337866956 | TMEM240 | c.245G>T (p.Ser82Ile) | |
| 1 | g.1535717C= | CA1149192920 | TMEM240 | c.245G= (p.Ser82=) | |
| 1 | g.1535717C>G | CA337866957 | TMEM240 | c.245G>C (p.Ser82Thr) | |
| 1 | g.1535717C>T | CA337866958 | TMEM240 | c.245G>A (p.Ser82Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535718T>A | CA337866959 | TMEM240 | c.244A>T (p.Ser82Cys) | |
| 1 | g.1535718T>C | CA16796934 | TMEM240 | c.244A>G (p.Ser82Gly) | dbSNP gnomAD v4 |
| 1 | g.1535718T>G | CA337866960 | TMEM240 | c.244A>C (p.Ser82Arg) | |
| 1 | g.1535718T= | CA1149192926 | TMEM240 | c.244A= (p.Ser82=) | |
| 1 | g.1535719_1535720del | CA2642615645 | TMEM240 | c.243_244del (p.Asp81GlufsTer?) | gnomAD v4 |
| 1 | g.1535719G>A | CA415768672 | TMEM240 | c.243C>T (p.Asp81=) | gnomAD v4 |
| 1 | g.1535719G>C | CA337866962 | TMEM240 | c.243C>G (p.Asp81Glu) | |
| 1 | g.1535719G>T | CA337866961 | TMEM240 | c.243C>A (p.Asp81Glu) | |
| 1 | g.1535720T>A | CA337866963 | TMEM240 | c.242A>T (p.Asp81Val) | |
| 1 | g.1535720T>C | CA337866965 | TMEM240 | c.242A>G (p.Asp81Gly) | |
| 1 | g.1535720T>G | CA337866964 | TMEM240 | c.242A>C (p.Asp81Ala) | |
| 1 | g.1535721C>A | CA337866966 | TMEM240 | c.241G>T (p.Asp81Tyr) | |
| 1 | g.1535721C>G | CA337866967 | TMEM240 | c.241G>C (p.Asp81His) | |
| 1 | g.1535721C>T | CA337866968 | TMEM240 | c.241G>A (p.Asp81Asn) | |
| 1 | g.1535722C>A | CA526690 | TMEM240 | c.240G>T (p.Thr80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535722C= | CA1143766880 | TMEM240 | c.240G= (p.Thr80=) | |
| 1 | g.1535722C>G | CA415768673 | TMEM240 | c.240G>C (p.Thr80=) | |
| 1 | g.1535722C>T | CA526689 | TMEM240 | c.240G>A (p.Thr80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535723G>A | CA272848 | TMEM240 | c.239C>T (p.Thr80Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535723G>C | CA337866970 | TMEM240 | c.239C>G (p.Thr80Arg) | |
| 1 | g.1535723G= | CA1148224147 | TMEM240 | c.239C= (p.Thr80=) | |
| 1 | g.1535723G>T | CA337866969 | TMEM240 | c.239C>A (p.Thr80Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1535724T>A | CA337866971 | TMEM240 | c.238A>T (p.Thr80Ser) | |
| 1 | g.1535724T>C | CA337866972 | TMEM240 | c.238A>G (p.Thr80Ala) | |
| 1 | g.1535724T>G | CA337866974 | TMEM240 | c.238A>C (p.Thr80Pro) | |
| 1 | g.1535725C>A | CA415768674 | TMEM240 | c.237G>T (p.Val79=) | gnomAD v4 |
| 1 | g.1535725C>G | CA415768675 | TMEM240 | c.237G>C (p.Val79=) | |
| 1 | g.1535725C>T | CA415768676 | TMEM240 | c.237G>A (p.Val79=) | |
| 1 | g.1535726A>C | CA337866984 | TMEM240 | c.236T>G (p.Val79Gly) | |
| 1 | g.1535726A>G | CA337866985 | TMEM240 | c.236T>C (p.Val79Ala) | |
| 1 | g.1535726A>T | CA337866987 | TMEM240 | c.236T>A (p.Val79Glu) | |
| 1 | g.1535727C>A | CA337866989 | TMEM240 | c.235G>T (p.Val79Leu) | |
| 1 | g.1535727C= | CA1149192942 | TMEM240 | c.235G= (p.Val79=) | |
| 1 | g.1535727C>G | CA337866991 | TMEM240 | c.235G>C (p.Val79Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535727C>T | CA337866990 | TMEM240 | c.235G>A (p.Val79Met) | gnomAD v4 |
| 1 | g.1535728A= | CA1149192950 | TMEM240 | c.234T= (p.Phe78=) | |
| 1 | g.1535728A>C | CA337866992 | TMEM240 | c.234T>G (p.Phe78Leu) | |
| 1 | g.1535728A>G | CA415768677 | TMEM240 | c.234T>C (p.Phe78=) | dbSNP gnomAD v2 |
| 1 | g.1535728A>T | CA337866993 | TMEM240 | c.234T>A (p.Phe78Leu) | |
| 1 | g.1535729A= | CA1149192956 | TMEM240 | c.233T= (p.Phe78=) | |
| 1 | g.1535729A>C | CA337866994 | TMEM240 | c.233T>G (p.Phe78Cys) | |
| 1 | g.1535729A>G | CA337866995 | TMEM240 | c.233T>C (p.Phe78Ser) | dbSNP |
| 1 | g.1535729A>T | CA337866997 | TMEM240 | c.233T>A (p.Phe78Tyr) | |
| 1 | g.1535729_1535732delinsAAGT | CA1149192960 | TMEM240 | c.230_233delinsACTT (p.Tyr77=) | |
| 1 | g.1535730A>C | CA337866999 | TMEM240 | c.232T>G (p.Phe78Val) | |
| 1 | g.1535730A>G | CA337867001 | TMEM240 | c.232T>C (p.Phe78Leu) | |
| 1 | g.1535730A>T | CA337867004 | TMEM240 | c.232T>A (p.Phe78Ile) | |
| 1 | g.1535733_1535735del | CA1149192968 | TMEM240 | c.230_232del (p.Tyr77del) | dbSNP |
| 1 | g.1535731G>A | CA415768678 | TMEM240 | c.231C>T (p.Tyr77=) | |
| 1 | g.1535731G>C | CA337867007 | TMEM240 | c.231C>G (p.Tyr77Ter) | |
| 1 | g.1535731G>T | CA337867011 | TMEM240 | c.231C>A (p.Tyr77Ter) | |
| 1 | g.1535732T>A | CA337867021 | TMEM240 | c.230A>T (p.Tyr77Phe) | |
| 1 | g.1535732T>C | CA337867019 | TMEM240 | c.230A>G (p.Tyr77Cys) | |
| 1 | g.1535732T>G | CA337867014 | TMEM240 | c.230A>C (p.Tyr77Ser) | |
| 1 | g.1535733A= | CA1149192978 | TMEM240 | c.229T= (p.Tyr77=) | |
| 1 | g.1535733A>C | CA337867024 | TMEM240 | c.229T>G (p.Tyr77Asp) | |
| 1 | g.1535733A>G | CA337867026 | TMEM240 | c.229T>C (p.Tyr77His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1535733A>T | CA337867027 | TMEM240 | c.229T>A (p.Tyr77Asn) | |
| 1 | g.1535734G>A | CA526691 | TMEM240 | c.228C>T (p.Asn76=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535734G>C | CA337867033 | TMEM240 | c.228C>G (p.Asn76Lys) | |
| 1 | g.1535734G= | CA1144597874 | TMEM240 | c.228C= (p.Asn76=) | |
| 1 | g.1535734G>T | CA337867036 | TMEM240 | c.228C>A (p.Asn76Lys) | |
| 1 | g.1535735T>A | CA337867043 | TMEM240 | c.227A>T (p.Asn76Ile) | |
| 1 | g.1535735T>C | CA337867038 | TMEM240 | c.227A>G (p.Asn76Ser) | |
| 1 | g.1535735T>G | CA337867040 | TMEM240 | c.227A>C (p.Asn76Thr) | |
| 1 | g.1535736T>A | CA337867048 | TMEM240 | c.226A>T (p.Asn76Tyr) | |
| 1 | g.1535736T>C | CA337867050 | TMEM240 | c.226A>G (p.Asn76Asp) | |
| 1 | g.1535736T>G | CA337867052 | TMEM240 | c.226A>C (p.Asn76His) | |
| 1 | g.1535737C>A | CA337867054 | TMEM240 | c.225G>T (p.Glu75Asp) | gnomAD v4 |
| 1 | g.1535737C>G | CA337867057 | TMEM240 | c.225G>C (p.Glu75Asp) | |
| 1 | g.1535737C>T | CA415768679 | TMEM240 | c.225G>A (p.Glu75=) | gnomAD v4 COSMIC |
| 1 | g.1535738T>A | CA337867060 | TMEM240 | c.224A>T (p.Glu75Val) | |
| 1 | g.1535738T>C | CA337867063 | TMEM240 | c.224A>G (p.Glu75Gly) | |
| 1 | g.1535738T>G | CA337867061 | TMEM240 | c.224A>C (p.Glu75Ala) | |
| 1 | g.1535739C>A | CA337867066 | TMEM240 | c.223G>T (p.Glu75Ter) | |
| 1 | g.1535739C= | CA1149192988 | TMEM240 | c.223G= (p.Glu75=) | |
| 1 | g.1535739C>G | CA337867069 | TMEM240 | c.223G>C (p.Glu75Gln) | |
| 1 | g.1535739C>T | CA526692 | TMEM240 | c.223G>A (p.Glu75Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535740G>A | CA16796956 | TMEM240 | c.222C>T (p.Ser74=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535740G>C | CA415768680 | TMEM240 | c.222C>G (p.Ser74=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1535740G= | CA1149192995 | TMEM240 | c.222C= (p.Ser74=) | |
| 1 | g.1535740G>T | CA415768681 | TMEM240 | c.222C>A (p.Ser74=) | |
| 1 | g.1535741G>A | CA337867071 | TMEM240 | c.221C>T (p.Ser74Phe) | |
| 1 | g.1535741G>C | CA337867074 | TMEM240 | c.221C>G (p.Ser74Cys) | |
| 1 | g.1535741G>T | CA337867076 | TMEM240 | c.221C>A (p.Ser74Tyr) | |
| 1 | g.1535742A>C | CA337867077 | TMEM240 | c.220T>G (p.Ser74Ala) | |
| 1 | g.1535742A>G | CA337867078 | TMEM240 | c.220T>C (p.Ser74Pro) | |
| 1 | g.1535742A>T | CA337867079 | TMEM240 | c.220T>A (p.Ser74Thr) | |
| 1 | g.1535743G>A | CA415768682 | TMEM240 | c.219C>T (p.Ala73=) | gnomAD v4 |
| 1 | g.1535743G>C | CA415768683 | TMEM240 | c.219C>G (p.Ala73=) | |
| 1 | g.1535743G>T | CA415768684 | TMEM240 | c.219C>A (p.Ala73=) | |
| 1 | g.1535744G>A | CA337867081 | TMEM240 | c.218C>T (p.Ala73Val) | |
| 1 | g.1535744G>C | CA337867084 | TMEM240 | c.218C>G (p.Ala73Gly) | |
| 1 | g.1535744G= | CA1149192999 | TMEM240 | c.218C= (p.Ala73=) | |
| 1 | g.1535744G>T | CA16796961 | TMEM240 | c.218C>A (p.Ala73Asp) | dbSNP gnomAD v4 |
| 1 | g.1535745C>A | CA337867086 | TMEM240 | c.217G>T (p.Ala73Ser) | gnomAD v4 |
| 1 | g.1535745C= | CA1149193001 | TMEM240 | c.217G= (p.Ala73=) | |
| 1 | g.1535745C>G | CA337867088 | TMEM240 | c.217G>C (p.Ala73Pro) | |
| 1 | g.1535745C>T | CA526693 | TMEM240 | c.217G>A (p.Ala73Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535746G>A | CA526694 | TMEM240 | c.216C>T (p.Asp72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535746G>C | CA337867090 | TMEM240 | c.216C>G (p.Asp72Glu) | |
| 1 | g.1535746G= | CA1141380601 | TMEM240 | c.216C= (p.Asp72=) | |
| 1 | g.1535746G>T | CA337867093 | TMEM240 | c.216C>A (p.Asp72Glu) | |
| 1 | g.1535747T>A | CA337867094 | TMEM240 | c.215A>T (p.Asp72Val) | |
| 1 | g.1535747T>C | CA337867096 | TMEM240 | c.215A>G (p.Asp72Gly) | dbSNP |
| 1 | g.1535747T>G | CA337867099 | TMEM240 | c.215A>C (p.Asp72Ala) | gnomAD v4 |
| 1 | g.1535748C>A | CA337867101 | TMEM240 | c.214G>T (p.Asp72Tyr) | |
| 1 | g.1535748C>G | CA337867103 | TMEM240 | c.214G>C (p.Asp72His) | |
| 1 | g.1535748C>T | CA337867105 | TMEM240 | c.214G>A (p.Asp72Asn) | |
| 1 | g.1535749C>A | CA415768287 | TMEM240 | c.213G>T (p.Val71=) | |
| 1 | g.1535749C= | CA1149193011 | TMEM240 | c.213G= (p.Val71=) | |
| 1 | g.1535749C>G | CA415768292 | TMEM240 | c.213G>C (p.Val71=) | |
| 1 | g.1535749C>T | CA526695 | TMEM240 | c.213G>A (p.Val71=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1535750A= | CA1149193015 | TMEM240 | c.212T= (p.Val71=) | |
| 1 | g.1535750A>C | CA337867107 | TMEM240 | c.212T>G (p.Val71Gly) | |
| 1 | g.1535750A>G | CA337867108 | TMEM240 | c.212T>C (p.Val71Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535750A>T | CA337867110 | TMEM240 | c.212T>A (p.Val71Glu) | |
| 1 | g.1535751C>A | CA337867111 | TMEM240 | c.211G>T (p.Val71Leu) | |
| 1 | g.1535751C= | CA1149193025 | TMEM240 | c.211G= (p.Val71=) | |
| 1 | g.1535751C>G | CA337867113 | TMEM240 | c.211G>C (p.Val71Leu) | |
| 1 | g.1535751C>T | CA16796979 | TMEM240 | c.211G>A (p.Val71Met) | dbSNP gnomAD v4 |
| 1 | g.1535752C>A | CA415768305 | TMEM240 | c.210G>T (p.Val70=) | |
| 1 | g.1535752C>G | CA415768306 | TMEM240 | c.210G>C (p.Val70=) | |
| 1 | g.1535752C>T | CA415768308 | TMEM240 | c.210G>A (p.Val70=) | |
| 1 | g.1535753A>C | CA337867125 | TMEM240 | c.209T>G (p.Val70Gly) | |
| 1 | g.1535753A>G | CA337867119 | TMEM240 | c.209T>C (p.Val70Ala) | gnomAD v4 |
| 1 | g.1535753A>T | CA337867123 | TMEM240 | c.209T>A (p.Val70Glu) | |
| 1 | g.1535754C>A | CA337867127 | TMEM240 | c.208G>T (p.Val70Leu) | dbSNP |
| 1 | g.1535754C= | CA1149193033 | TMEM240 | c.208G= (p.Val70=) | |
| 1 | g.1535754C>G | CA337867130 | TMEM240 | c.208G>C (p.Val70Leu) | |
| 1 | g.1535754C>T | CA16796983 | TMEM240 | c.208G>A (p.Val70Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1535755C>A | CA415768313 | TMEM240 | c.207G>T (p.Ser69=) | |
| 1 | g.1535755C= | CA1143719420 | TMEM240 | c.207G= (p.Ser69=) | |
| 1 | g.1535755C>G | CA415768315 | TMEM240 | c.207G>C (p.Ser69=) | |
| 1 | g.1535755C>T | CA526696 | TMEM240 | c.207G>A (p.Ser69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535757_1535770del | CA2642615646 | TMEM240 | c.194_207del (p.Asp65GlyfsTer?) | gnomAD v4 |
| 1 | g.1535756G>A | CA337867135 | TMEM240 | c.206C>T (p.Ser69Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.1535756G>C | CA337867136 | TMEM240 | c.206C>G (p.Ser69Trp) | |
| 1 | g.1535756G= | CA1149193042 | TMEM240 | c.206C= (p.Ser69=) | |
| 1 | g.1535756G>T | CA337867137 | TMEM240 | c.206C>A (p.Ser69Ter) | |
| 1 | g.1535757A>C | CA337867138 | TMEM240 | c.205T>G (p.Ser69Ala) | |
| 1 | g.1535757A>G | CA337867139 | TMEM240 | c.205T>C (p.Ser69Pro) | |
| 1 | g.1535757A>T | CA337867141 | TMEM240 | c.205T>A (p.Ser69Thr) | |
| 1 | g.1535758C>A | CA337867142 | TMEM240 | c.204G>T (p.Gln68His) | |
| 1 | g.1535758C= | CA1149193051 | TMEM240 | c.204G= (p.Gln68=) | |
| 1 | g.1535758C>G | CA337867146 | TMEM240 | c.204G>C (p.Gln68His) | |
| 1 | g.1535758C>T | CA415768324 | TMEM240 | c.204G>A (p.Gln68=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1535759T>A | CA337867152 | TMEM240 | c.203A>T (p.Gln68Leu) | |
| 1 | g.1535759T>C | CA337867150 | TMEM240 | c.203A>G (p.Gln68Arg) | |
| 1 | g.1535759T>G | CA337867148 | TMEM240 | c.203A>C (p.Gln68Pro) | |
| 1 | g.1535760G>A | CA337867166 | TMEM240 | c.202C>T (p.Gln68Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1535760G>C | CA337867155 | TMEM240 | c.202C>G (p.Gln68Glu) | |
| 1 | g.1535760G= | CA1149193054 | TMEM240 | c.202C= (p.Gln68=) | |
| 1 | g.1535760G>T | CA337867157 | TMEM240 | c.202C>A (p.Gln68Lys) | |
| 1 | g.1535761G>A | CA415768329 | TMEM240 | c.201C>T (p.Asp67=) | |
| 1 | g.1535761G>C | CA337867168 | TMEM240 | c.201C>G (p.Asp67Glu) | gnomAD v4 |
| 1 | g.1535761G>T | CA337867170 | TMEM240 | c.201C>A (p.Asp67Glu) | |
| 1 | g.1535762T>A | CA337867173 | TMEM240 | c.200A>T (p.Asp67Val) | |
| 1 | g.1535762T>C | CA337867176 | TMEM240 | c.200A>G (p.Asp67Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1535762T>G | CA337867181 | TMEM240 | c.200A>C (p.Asp67Ala) | |
| 1 | g.1535762T= | CA1149193062 | TMEM240 | c.200A= (p.Asp67=) | |
| 1 | g.1535763C>A | CA337867183 | TMEM240 | c.199G>T (p.Asp67Tyr) | |
| 1 | g.1535763C= | CA1149193068 | TMEM240 | c.199G= (p.Asp67=) | |
| 1 | g.1535763C>G | CA337867187 | TMEM240 | c.199G>C (p.Asp67His) | |
| 1 | g.1535763C>T | CA337867189 | TMEM240 | c.199G>A (p.Asp67Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1535766dup | CA521010115 | TMEM240 | c.199dup (p.Asp67GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.1535764C>A | CA415768338 | TMEM240 | c.198G>T (p.Gly66=) | gnomAD v4 |
| 1 | g.1535764C>G | CA415768340 | TMEM240 | c.198G>C (p.Gly66=) | |
| 1 | g.1535764C>T | CA415768339 | TMEM240 | c.198G>A (p.Gly66=) | dbSNP gnomAD v4 |
| 1 | g.1535765C>A | CA337867192 | TMEM240 | c.197G>T (p.Gly66Val) | |
| 1 | g.1535765C>G | CA337867195 | TMEM240 | c.197G>C (p.Gly66Ala) | |
| 1 | g.1535765C>T | CA337867197 | TMEM240 | c.197G>A (p.Gly66Glu) | |
| 1 | g.1535766C>A | CA337867204 | TMEM240 | c.196G>T (p.Gly66Trp) | gnomAD v4 COSMIC |
| 1 | g.1535766C= | CA1149193076 | TMEM240 | c.196G= (p.Gly66=) | |
| 1 | g.1535766C>G | CA337867206 | TMEM240 | c.196G>C (p.Gly66Arg) | gnomAD v4 |
| 1 | g.1535766C>T | CA16042311 | TMEM240 | c.196G>A (p.Gly66Arg) | ClinVar dbSNP |
| 1 | g.1535767G>A | CA526697 | TMEM240 | c.195C>T (p.Asp65=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1535767G>C | CA337867210 | TMEM240 | c.195C>G (p.Asp65Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1535767G= | CA1148885396 | TMEM240 | c.195C= (p.Asp65=) | |
| 1 | g.1535767G>T | CA337867212 | TMEM240 | c.195C>A (p.Asp65Glu) | gnomAD v4 |