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 |
|---|---|---|---|---|---|
| 19 | g.44892366_44892370del | CA2585710478 | TOMM40 | c.275-27_275-23del (n.275-27_275-23del) | gnomAD v4 |
| 19 | g.44892370G>A | CA9505582 | TOMM40 | c.275-23G>A (n.275-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892370G= | CA2338159306 | TOMM40 | c.275-23G= (n.275-23G=) | |
| 19 | g.44892374C= | CA2338159307 | TOMM40 | c.275-19C= (n.275-19C=) | |
| 19 | g.44892374C>T | CA633311509 | TOMM40 | c.275-19C>T (n.275-19C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44892375A>G | CA2585710483 | TOMM40 | c.275-18A>G (n.275-18A>G) | gnomAD v4 |
| 19 | g.44892376G>A | CA2585710484 | TOMM40 | c.275-17G>A (n.275-17G>A) | gnomAD v4 |
| 19 | g.44892376G>C | CA882678152 | TOMM40 | c.275-17G>C (n.275-17G>C) | dbSNP |
| 19 | g.44892376G= | CA2338159308 | TOMM40 | c.275-17G= (n.275-17G=) | |
| 19 | g.44892377C>A | CA2576811801 | TOMM40 | c.275-16C>A (n.275-16C>A) | |
| 19 | g.44892377C= | CA2338159309 | TOMM40 | c.275-16C= (n.275-16C=) | |
| 19 | g.44892377C>G | CA2585710485 | TOMM40 | c.275-16C>G (n.275-16C>G) | gnomAD v4 |
| 19 | g.44892377C>T | CA882678154 | TOMM40 | c.275-16C>T (n.275-16C>T) | dbSNP gnomAD v4 |
| 19 | g.44892378G>A | CA2585710486 | TOMM40 | c.275-15G>A (n.275-15G>A) | gnomAD v4 |
| 19 | g.44892378G>C | CA9505583 | TOMM40 | c.275-15G>C (n.275-15G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44892378G= | CA2338159310 | TOMM40 | c.275-15G= (n.275-15G=) | |
| 19 | g.44892378G>T | CA2585710487 | TOMM40 | c.275-15G>T (n.275-15G>T) | gnomAD v4 |
| 19 | g.44892379T>A | CA2585710488 | TOMM40 | c.275-14T>A (n.275-14T>A) | gnomAD v4 |
| 19 | g.44892380T>C | CA633311510 | TOMM40 | c.275-13T>C (n.275-13T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44892380T>G | CA2338159312 | TOMM40 | c.275-13T>G (n.275-13T>G) | dbSNP |
| 19 | g.44892380T= | CA2338159311 | TOMM40 | c.275-13T= (n.275-13T=) | |
| 19 | g.44892382C>G | CA2585710489 | TOMM40 | c.275-11C>G (n.275-11C>G) | gnomAD v4 |
| 19 | g.44892387C= | CA2338159313 | TOMM40 | c.275-6C= (n.275-6C=) | |
| 19 | g.44892387C>T | CA308869481 | TOMM40 | c.275-6C>T (n.275-6C>T) | dbSNP |
| 19 | g.44892389C>T | CA2585710490 | TOMM40 | c.275-4C>T (n.275-4C>T) | gnomAD v4 |
| 19 | g.44892390C= | CA2338159314 | TOMM40 | c.275-3C= (n.275-3C=) | |
| 19 | g.44892390C>T | CA9505584 | TOMM40 | c.275-3C>T (n.275-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892391A>C | CA406295758 | TOMM40 | c.275-2A>C (n.275-2A>C) | |
| 19 | g.44892391A>G | CA406295759 | TOMM40 | c.275-2A>G (n.275-2A>G) | |
| 19 | g.44892391A>T | CA406295757 | TOMM40 | c.275-2A>T (n.275-2A>T) | |
| 19 | g.44892392G>A | CA406295762 | TOMM40 | c.275-1G>A (n.275-1G>A) | |
| 19 | g.44892392G>C | CA406295760 | TOMM40 | c.275-1G>C (n.275-1G>C) | |
| 19 | g.44892392G>T | CA406295761 | TOMM40 | c.275-1G>T (n.275-1G>T) | |
| 19 | g.44892393A>C | CA406295763 | TOMM40 | c.275A>C (p.Glu92Ala) | |
| 19 | g.44892393A>G | CA406295764 | TOMM40 | c.275A>G (p.Glu92Gly) | |
| 19 | g.44892393A>T | CA406295765 | TOMM40 | c.275A>T (p.Glu92Val) | |
| 19 | g.44892394G>A | CA507797966 | TOMM40 | c.276G>A (p.Glu92=) | |
| 19 | g.44892394G>C | CA9505585 | TOMM40 | c.276G>C (p.Glu92Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892394G= | CA2338159315 | TOMM40 | c.276G= (p.Glu92=) | |
| 19 | g.44892394G>T | CA406295766 | TOMM40 | c.276G>T (p.Glu92Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44892395C>A | CA9505586 | TOMM40 | c.277C>A (p.Leu93Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892395C= | CA2338159316 | TOMM40 | c.277C= (p.Leu93=) | |
| 19 | g.44892395C>G | CA406295767 | TOMM40 | c.277C>G (p.Leu93Val) | |
| 19 | g.44892395C>T | CA507797967 | TOMM40 | c.277C>T (p.Leu93=) | gnomAD v4 |
| 19 | g.44892396T>A | CA406295768 | TOMM40 | c.278T>A (p.Leu93Gln) | |
| 19 | g.44892396T>C | CA406295769 | TOMM40 | c.278T>C (p.Leu93Pro) | |
| 19 | g.44892396T>G | CA406295770 | TOMM40 | c.278T>G (p.Leu93Arg) | |
| 19 | g.44892397G>A | CA507797968 | TOMM40 | c.279G>A (p.Leu93=) | |
| 19 | g.44892397G>C | CA507797969 | TOMM40 | c.279G>C (p.Leu93=) | dbSNP gnomAD v4 |
| 19 | g.44892397G= | CA2338159317 | TOMM40 | c.279G= (p.Leu93=) | |
| 19 | g.44892397G>T | CA507797970 | TOMM40 | c.279G>T (p.Leu93=) | |
| 19 | g.44892398T>A | CA406295773 | TOMM40 | c.280T>A (p.Phe94Ile) | |
| 19 | g.44892398T>C | CA406295772 | TOMM40 | c.280T>C (p.Phe94Leu) | |
| 19 | g.44892398T>G | CA406295771 | TOMM40 | c.280T>G (p.Phe94Val) | |
| 19 | g.44892399T>A | CA406295774 | TOMM40 | c.281T>A (p.Phe94Tyr) | |
| 19 | g.44892399T>C | CA406295775 | TOMM40 | c.281T>C (p.Phe94Ser) | |
| 19 | g.44892399T>G | CA406295776 | TOMM40 | c.281T>G (p.Phe94Cys) | |
| 19 | g.44892400T>A | CA308869487 | TOMM40 | c.282T>A (p.Phe94Leu) | dbSNP |
| 19 | g.44892400T>C | CA507797971 | TOMM40 | c.282T>C (p.Phe94=) | |
| 19 | g.44892400T>G | CA406295777 | TOMM40 | c.282T>G (p.Phe94Leu) | |
| 19 | g.44892400T= | CA2338159318 | TOMM40 | c.282T= (p.Phe94=) | |
| 19 | g.44892401C>A | CA406295778 | TOMM40 | c.283C>A (p.Pro95Thr) | |
| 19 | g.44892401C>G | CA406295779 | TOMM40 | c.283C>G (p.Pro95Ala) | gnomAD v4 |
| 19 | g.44892401C>T | CA406295780 | TOMM40 | c.283C>T (p.Pro95Ser) | |
| 19 | g.44892402C>A | CA406295781 | TOMM40 | c.284C>A (p.Pro95His) | |
| 19 | g.44892402C= | CA2338159319 | TOMM40 | c.284C= (p.Pro95=) | |
| 19 | g.44892402C>G | CA406295782 | TOMM40 | c.284C>G (p.Pro95Arg) | |
| 19 | g.44892402C>T | CA406295783 | TOMM40 | c.284C>T (p.Pro95Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.44892403C>A | CA9505587 | TOMM40 | c.285C>A (p.Pro95=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892403C= | CA2338159320 | TOMM40 | c.285C= (p.Pro95=) | |
| 19 | g.44892403C>G | CA507797973 | TOMM40 | c.285C>G (p.Pro95=) | |
| 19 | g.44892403C>T | CA507797972 | TOMM40 | c.285C>T (p.Pro95=) | |
| 19 | g.44892404A= | CA2338159321 | TOMM40 | c.286A= (p.Ile96=) | |
| 19 | g.44892404A>C | CA406295786 | TOMM40 | c.286A>C (p.Ile96Leu) | |
| 19 | g.44892404A>G | CA406295785 | TOMM40 | c.286A>G (p.Ile96Val) | dbSNP gnomAD v4 |
| 19 | g.44892404A>T | CA406295784 | TOMM40 | c.286A>T (p.Ile96Phe) | |
| 19 | g.44892405T>A | CA9505588 | TOMM40 | c.287T>A (p.Ile96Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892405T>C | CA406295787 | TOMM40 | c.287T>C (p.Ile96Thr) | |
| 19 | g.44892405T>G | CA406295788 | TOMM40 | c.287T>G (p.Ile96Ser) | |
| 19 | g.44892405T= | CA2338159322 | TOMM40 | c.287T= (p.Ile96=) | |
| 19 | g.44892406T>A | CA507797974 | TOMM40 | c.288T>A (p.Ile96=) | |
| 19 | g.44892406T>C | CA507797975 | TOMM40 | c.288T>C (p.Ile96=) | gnomAD v4 |
| 19 | g.44892406T>G | CA406295789 | TOMM40 | c.288T>G (p.Ile96Met) | |
| 19 | g.44892407C>A | CA406295790 | TOMM40 | c.289C>A (p.Gln97Lys) | |
| 19 | g.44892407C>G | CA406295791 | TOMM40 | c.289C>G (p.Gln97Glu) | |
| 19 | g.44892407C>T | CA406295792 | TOMM40 | c.289C>T (p.Gln97Ter) | |
| 19 | g.44892408A>C | CA406295793 | TOMM40 | c.290A>C (p.Gln97Pro) | |
| 19 | g.44892408A>G | CA406295794 | TOMM40 | c.290A>G (p.Gln97Arg) | |
| 19 | g.44892408A>T | CA406295795 | TOMM40 | c.290A>T (p.Gln97Leu) | |
| 19 | g.44892409G>A | CA507797976 | TOMM40 | c.291G>A (p.Gln97=) | |
| 19 | g.44892409G>C | CA406295796 | TOMM40 | c.291G>C (p.Gln97His) | |
| 19 | g.44892409G= | CA2338159323 | TOMM40 | c.291G= (p.Gln97=) | |
| 19 | g.44892409G>T | CA9505589 | TOMM40 | c.291G>T (p.Gln97His) | dbSNP ExAC gnomAD v2 |
| 19 | g.44892410A= | CA2338159324 | TOMM40 | c.292A= (p.Met98=) | |
| 19 | g.44892410A>C | CA406295798 | TOMM40 | c.292A>C (p.Met98Leu) | |
| 19 | g.44892410A>G | CA9505590 | TOMM40 | c.292A>G (p.Met98Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44892410A>T | CA406295797 | TOMM40 | c.292A>T (p.Met98Leu) | dbSNP |
| 19 | g.44892411T>A | CA406295799 | TOMM40 | c.293T>A (p.Met98Lys) | |
| 19 | g.44892411T>C | CA406295800 | TOMM40 | c.293T>C (p.Met98Thr) | |
| 19 | g.44892411T>G | CA406295801 | TOMM40 | c.293T>G (p.Met98Arg) | |
| 19 | g.44892412G>A | CA406295802 | TOMM40 | c.294G>A (p.Met98Ile) | |
| 19 | g.44892412G>C | CA406295803 | TOMM40 | c.294G>C (p.Met98Ile) | |
| 19 | g.44892412G>T | CA406295804 | TOMM40 | c.294G>T (p.Met98Ile) | |
| 19 | g.44892413G>A | CA406295805 | TOMM40 | c.295G>A (p.Glu99Lys) | |
| 19 | g.44892413G>C | CA406295807 | TOMM40 | c.295G>C (p.Glu99Gln) | COSMIC COSMIC |
| 19 | g.44892413G>T | CA406295806 | TOMM40 | c.295G>T (p.Glu99Ter) | |
| 19 | g.44892414A= | CA2338159325 | TOMM40 | c.296A= (p.Glu99=) | |
| 19 | g.44892414A>C | CA406295808 | TOMM40 | c.296A>C (p.Glu99Ala) | |
| 19 | g.44892414A>G | CA406295809 | TOMM40 | c.296A>G (p.Glu99Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44892414A>T | CA406295810 | TOMM40 | c.296A>T (p.Glu99Val) | |
| 19 | g.44892415G>A | CA507797977 | TOMM40 | c.297G>A (p.Glu99=) | |
| 19 | g.44892415G>C | CA9505591 | TOMM40 | c.297G>C (p.Glu99Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892415G= | CA2338159326 | TOMM40 | c.297G= (p.Glu99=) | |
| 19 | g.44892415G>T | CA406295811 | TOMM40 | c.297G>T (p.Glu99Asp) | |
| 19 | g.44892416G>A | CA406295813 | TOMM40 | c.298G>A (p.Gly100Ser) | gnomAD v4 |
| 19 | g.44892416G>C | CA406295814 | TOMM40 | c.298G>C (p.Gly100Arg) | COSMIC COSMIC |
| 19 | g.44892416G>T | CA406295812 | TOMM40 | c.298G>T (p.Gly100Cys) | |
| 19 | g.44892417G>A | CA406295816 | TOMM40 | c.299G>A (p.Gly100Asp) | gnomAD v4 |
| 19 | g.44892417G>C | CA406295815 | TOMM40 | c.299G>C (p.Gly100Ala) | |
| 19 | g.44892417G>T | CA406295817 | TOMM40 | c.299G>T (p.Gly100Val) | |
| 19 | g.44892418T>A | CA507797978 | TOMM40 | c.300T>A (p.Gly100=) | |
| 19 | g.44892418T>C | CA507797979 | TOMM40 | c.300T>C (p.Gly100=) | dbSNP |
| 19 | g.44892418T>G | CA507797980 | TOMM40 | c.300T>G (p.Gly100=) | |
| 19 | g.44892419G>A | CA9505592 | TOMM40 | c.301G>A (p.Val101Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44892419G>C | CA406295818 | TOMM40 | c.301G>C (p.Val101Leu) | |
| 19 | g.44892419G= | CA2338159327 | TOMM40 | c.301G= (p.Val101=) | |
| 19 | g.44892419G>T | CA406295819 | TOMM40 | c.301G>T (p.Val101Phe) | |
| 19 | g.44892420T>A | CA406295820 | TOMM40 | c.302T>A (p.Val101Asp) | |
| 19 | g.44892420T>C | CA406295821 | TOMM40 | c.302T>C (p.Val101Ala) | |
| 19 | g.44892420T>G | CA406295822 | TOMM40 | c.302T>G (p.Val101Gly) | |
| 19 | g.44892421C>A | CA507797981 | TOMM40 | c.303C>A (p.Val101=) | |
| 19 | g.44892421C>G | CA507797982 | TOMM40 | c.303C>G (p.Val101=) | |
| 19 | g.44892421C>T | CA507797983 | TOMM40 | c.303C>T (p.Val101=) | gnomAD v4 |
| 19 | g.44892422A>C | CA406295823 | TOMM40 | c.304A>C (p.Lys102Gln) | |
| 19 | g.44892422A>G | CA406295824 | TOMM40 | c.304A>G (p.Lys102Glu) | |
| 19 | g.44892422A>T | CA406295825 | TOMM40 | c.304A>T (p.Lys102Ter) | |
| 19 | g.44892423A= | CA2338159328 | TOMM40 | c.305A= (p.Lys102=) | |
| 19 | g.44892423A>C | CA406295826 | TOMM40 | c.305A>C (p.Lys102Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44892423A>G | CA406295827 | TOMM40 | c.305A>G (p.Lys102Arg) | gnomAD v4 |
| 19 | g.44892423A>T | CA406295828 | TOMM40 | c.305A>T (p.Lys102Met) | |
| 19 | g.44892424G>A | CA507797984 | TOMM40 | c.306G>A (p.Lys102=) | |
| 19 | g.44892424G>C | CA406295830 | TOMM40 | c.306G>C (p.Lys102Asn) | |
| 19 | g.44892424G>T | CA406295829 | TOMM40 | c.306G>T (p.Lys102Asn) | |
| 19 | g.44892425C>A | CA406295831 | TOMM40 | c.307C>A (p.Leu103Ile) | |
| 19 | g.44892425C= | CA2338159329 | TOMM40 | c.307C= (p.Leu103=) | |
| 19 | g.44892425C>G | CA9505594 | TOMM40 | c.307C>G (p.Leu103Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44892425C>T | CA9505593 | TOMM40 | c.307C>T (p.Leu103Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892426T>A | CA406295832 | TOMM40 | c.308T>A (p.Leu103His) | |
| 19 | g.44892426T>C | CA406295833 | TOMM40 | c.308T>C (p.Leu103Pro) | |
| 19 | g.44892426T>G | CA406295834 | TOMM40 | c.308T>G (p.Leu103Arg) | |
| 19 | g.44892427C>A | CA507797987 | TOMM40 | c.309C>A (p.Leu103=) | |
| 19 | g.44892427C= | CA2338159330 | TOMM40 | c.309C= (p.Leu103=) | |
| 19 | g.44892427C>G | CA507797986 | TOMM40 | c.309C>G (p.Leu103=) | |
| 19 | g.44892427C>T | CA507797985 | TOMM40 | c.309C>T (p.Leu103=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44892428A>C | CA406295835 | TOMM40 | c.310A>C (p.Thr104Pro) | |
| 19 | g.44892428A>G | CA406295836 | TOMM40 | c.310A>G (p.Thr104Ala) | |
| 19 | g.44892428A>T | CA406295837 | TOMM40 | c.310A>T (p.Thr104Ser) | |
| 19 | g.44892429C>A | CA406295838 | TOMM40 | c.311C>A (p.Thr104Lys) | |
| 19 | g.44892429C= | CA2338159331 | TOMM40 | c.311C= (p.Thr104=) | |
| 19 | g.44892429C>G | CA406295839 | TOMM40 | c.311C>G (p.Thr104Arg) | |
| 19 | g.44892429C>T | CA406295840 | TOMM40 | c.311C>T (p.Thr104Ile) | dbSNP |
| 19 | g.44892430A= | CA2338159332 | TOMM40 | c.312A= (p.Thr104=) | |
| 19 | g.44892430A>C | CA507797988 | TOMM40 | c.312A>C (p.Thr104=) | |
| 19 | g.44892430A>G | CA507797989 | TOMM40 | c.312A>G (p.Thr104=) | gnomAD v4 |
| 19 | g.44892430A>T | CA308869502 | TOMM40 | c.312A>T (p.Thr104=) | dbSNP |
| 19 | g.44892431G>A | CA9505595 | TOMM40 | c.313G>A (p.Val105Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44892431G>C | CA406295842 | TOMM40 | c.313G>C (p.Val105Leu) | |
| 19 | g.44892431G= | CA2338159333 | TOMM40 | c.313G= (p.Val105=) | |
| 19 | g.44892431G>T | CA406295841 | TOMM40 | c.313G>T (p.Val105Phe) | |
| 19 | g.44892432T>A | CA406295843 | TOMM40 | c.314T>A (p.Val105Asp) | |
| 19 | g.44892432T>C | CA406295844 | TOMM40 | c.314T>C (p.Val105Ala) | |
| 19 | g.44892432T>G | CA406295845 | TOMM40 | c.314T>G (p.Val105Gly) | |
| 19 | g.44892433C>A | CA507797990 | TOMM40 | c.315C>A (p.Val105=) | |
| 19 | g.44892433C= | CA2338159334 | TOMM40 | c.315C= (p.Val105=) | |
| 19 | g.44892433C>G | CA507797991 | TOMM40 | c.315C>G (p.Val105=) | |
| 19 | g.44892433C>T | CA9505596 | TOMM40 | c.315C>T (p.Val105=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892434A>C | CA406295846 | TOMM40 | c.316A>C (p.Asn106His) | |
| 19 | g.44892434A>G | CA406295847 | TOMM40 | c.316A>G (p.Asn106Asp) | |
| 19 | g.44892434A>T | CA406295848 | TOMM40 | c.316A>T (p.Asn106Tyr) | |
| 19 | g.44892435A>C | CA406295849 | TOMM40 | c.317A>C (p.Asn106Thr) | |
| 19 | g.44892435A>G | CA406295850 | TOMM40 | c.317A>G (p.Asn106Ser) | |
| 19 | g.44892435A>T | CA406295851 | TOMM40 | c.317A>T (p.Asn106Ile) | |
| 19 | g.44892436C>A | CA406295852 | TOMM40 | c.318C>A (p.Asn106Lys) | |
| 19 | g.44892436C= | CA2338159335 | TOMM40 | c.318C= (p.Asn106=) | |
| 19 | g.44892436C>G | CA406295853 | TOMM40 | c.318C>G (p.Asn106Lys) | |
| 19 | g.44892436C>T | CA507797996 | TOMM40 | c.318C>T (p.Asn106=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44892437A>C | CA406295856 | TOMM40 | c.319A>C (p.Lys107Gln) | |
| 19 | g.44892437A>G | CA406295855 | TOMM40 | c.319A>G (p.Lys107Glu) | |
| 19 | g.44892437A>T | CA406295854 | TOMM40 | c.319A>T (p.Lys107Ter) | |
| 19 | g.44892438A>C | CA406295857 | TOMM40 | c.320A>C (p.Lys107Thr) | |
| 19 | g.44892438A>G | CA406295858 | TOMM40 | c.320A>G (p.Lys107Arg) | |
| 19 | g.44892438A>T | CA406295859 | TOMM40 | c.320A>T (p.Lys107Ile) | |
| 19 | g.44892439A>C | CA406295860 | TOMM40 | c.321A>C (p.Lys107Asn) | |
| 19 | g.44892439A>G | CA507797999 | TOMM40 | c.321A>G (p.Lys107=) | gnomAD v4 |
| 19 | g.44892439A>T | CA406295861 | TOMM40 | c.321A>T (p.Lys107Asn) | |
| 19 | g.44892440G>A | CA406295862 | TOMM40 | c.322G>A (p.Gly108Arg) | |
| 19 | g.44892440G>C | CA406295863 | TOMM40 | c.322G>C (p.Gly108Arg) | |
| 19 | g.44892440G>T | CA406295864 | TOMM40 | c.322G>T (p.Gly108Trp) | |
| 19 | g.44892441G>A | CA406295865 | TOMM40 | c.323G>A (p.Gly108Glu) | dbSNP |
| 19 | g.44892441G>C | CA406295866 | TOMM40 | c.323G>C (p.Gly108Ala) | |
| 19 | g.44892441G= | CA2338159336 | TOMM40 | c.323G= (p.Gly108=) | |
| 19 | g.44892441G>T | CA406295867 | TOMM40 | c.323G>T (p.Gly108Val) | |
| 19 | g.44892442G>A | CA507798001 | TOMM40 | c.324G>A (p.Gly108=) | dbSNP gnomAD v4 |
| 19 | g.44892442G>C | CA507798002 | TOMM40 | c.324G>C (p.Gly108=) | gnomAD v4 |
| 19 | g.44892442G= | CA2338159337 | TOMM40 | c.324G= (p.Gly108=) | |
| 19 | g.44892442G>T | CA507798003 | TOMM40 | c.324G>T (p.Gly108=) | |
| 19 | g.44892443T>A | CA406295868 | TOMM40 | c.325T>A (p.Leu109Met) | |
| 19 | g.44892443T>C | CA507798004 | TOMM40 | c.325T>C (p.Leu109=) | |
| 19 | g.44892443T>G | CA406295869 | TOMM40 | c.325T>G (p.Leu109Val) | |
| 19 | g.44892444T>A | CA406295871 | TOMM40 | c.326T>A (p.Leu109Ter) | |
| 19 | g.44892444T>C | CA406295872 | TOMM40 | c.326T>C (p.Leu109Ser) | gnomAD v4 |
| 19 | g.44892444T>G | CA406295870 | TOMM40 | c.326T>G (p.Leu109Trp) | |
| 19 | g.44892445G>A | CA507798008 | TOMM40 | c.327G>A (p.Leu109=) | |
| 19 | g.44892445G>C | CA406295874 | TOMM40 | c.327G>C (p.Leu109Phe) | |
| 19 | g.44892445G>T | CA406295873 | TOMM40 | c.327G>T (p.Leu109Phe) | |
| 19 | g.44892446A>C | CA406295875 | TOMM40 | c.328A>C (p.Ser110Arg) | |
| 19 | g.44892446A>G | CA406295876 | TOMM40 | c.328A>G (p.Ser110Gly) | |
| 19 | g.44892446A>T | CA406295877 | TOMM40 | c.328A>T (p.Ser110Cys) | |
| 19 | g.44892447G>A | CA406295878 | TOMM40 | c.329G>A (p.Ser110Asn) | dbSNP COSMIC COSMIC |
| 19 | g.44892447G>C | CA406295879 | TOMM40 | c.329G>C (p.Ser110Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44892447G= | CA2338159338 | TOMM40 | c.329G= (p.Ser110=) | |
| 19 | g.44892447G>T | CA406295880 | TOMM40 | c.329G>T (p.Ser110Ile) | |
| 19 | g.44892448T>A | CA406295881 | TOMM40 | c.330T>A (p.Ser110Arg) | |
| 19 | g.44892448T>C | CA507798010 | TOMM40 | c.330T>C (p.Ser110=) | |
| 19 | g.44892448T>G | CA406295882 | TOMM40 | c.330T>G (p.Ser110Arg) | |
| 19 | g.44892449A>C | CA406295883 | TOMM40 | c.331A>C (p.Asn111His) | gnomAD v4 |
| 19 | g.44892449A>G | CA406295884 | TOMM40 | c.331A>G (p.Asn111Asp) | |
| 19 | g.44892449A>T | CA406295885 | TOMM40 | c.331A>T (p.Asn111Tyr) | |
| 19 | g.44892450A= | CA2338159339 | TOMM40 | c.332A= (p.Asn111=) | |
| 19 | g.44892450A>C | CA406295887 | TOMM40 | c.332A>C (p.Asn111Thr) | |
| 19 | g.44892450A>G | CA9505597 | TOMM40 | c.332A>G (p.Asn111Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892450A>T | CA406295886 | TOMM40 | c.332A>T (p.Asn111Ile) | |
| 19 | g.44892451C>A | CA9505598 | TOMM40 | c.333C>A (p.Asn111Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44892451C= | CA2338159340 | TOMM40 | c.333C= (p.Asn111=) | |
| 19 | g.44892451C>G | CA406295888 | TOMM40 | c.333C>G (p.Asn111Lys) | |
| 19 | g.44892451C>T | CA507798014 | TOMM40 | c.333C>T (p.Asn111=) | |
| 19 | g.44892452C>A | CA406295889 | TOMM40 | c.334C>A (p.His112Asn) | |
| 19 | g.44892452C= | CA2338159341 | TOMM40 | c.334C= (p.His112=) | |
| 19 | g.44892452C>G | CA406295890 | TOMM40 | c.334C>G (p.His112Asp) | |
| 19 | g.44892452C>T | CA9505599 | TOMM40 | c.334C>T (p.His112Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892453A>C | CA406295893 | TOMM40 | c.335A>C (p.His112Pro) | |
| 19 | g.44892453A>G | CA406295891 | TOMM40 | c.335A>G (p.His112Arg) | gnomAD v4 COSMIC COSMIC |
| 19 | g.44892453A>T | CA406295892 | TOMM40 | c.335A>T (p.His112Leu) | |
| 19 | g.44892454T>A | CA406295894 | TOMM40 | c.336T>A (p.His112Gln) | |
| 19 | g.44892454T>C | CA507798016 | TOMM40 | c.336T>C (p.His112=) | gnomAD v4 |
| 19 | g.44892454T>G | CA406295895 | TOMM40 | c.336T>G (p.His112Gln) | |
| 19 | g.44892457del | CA2814533768 | TOMM40 | c.339del (p.Gln114ArgfsTer6) | |
| 19 | g.44892455T>A | CA406295896 | TOMM40 | c.337T>A (p.Phe113Ile) | |
| 19 | g.44892455T>C | CA406295897 | TOMM40 | c.337T>C (p.Phe113Leu) | |
| 19 | g.44892455T>G | CA406295898 | TOMM40 | c.337T>G (p.Phe113Val) | |
| 19 | g.44892456T>A | CA406295901 | TOMM40 | c.338T>A (p.Phe113Tyr) | |
| 19 | g.44892456T>C | CA406295900 | TOMM40 | c.338T>C (p.Phe113Ser) | |
| 19 | g.44892456T>G | CA406295899 | TOMM40 | c.338T>G (p.Phe113Cys) | |
| 19 | g.44892457T>A | CA406295902 | TOMM40 | c.339T>A (p.Phe113Leu) | dbSNP gnomAD v4 |
| 19 | g.44892457T>C | CA9505600 | TOMM40 | c.339T>C (p.Phe113=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892457T>G | CA406295903 | TOMM40 | c.339T>G (p.Phe113Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44892457T= | CA2338159342 | TOMM40 | c.339T= (p.Phe113=) | |
| 19 | g.44892458C>A | CA406295904 | TOMM40 | c.340C>A (p.Gln114Lys) | |
| 19 | g.44892458C>G | CA406295905 | TOMM40 | c.340C>G (p.Gln114Glu) | |
| 19 | g.44892458C>T | CA406295906 | TOMM40 | c.340C>T (p.Gln114Ter) | gnomAD v4 |
| 19 | g.44892459A>C | CA406295907 | TOMM40 | c.341A>C (p.Gln114Pro) | |
| 19 | g.44892459A>G | CA406295908 | TOMM40 | c.341A>G (p.Gln114Arg) | gnomAD v4 |
| 19 | g.44892459A>T | CA406295909 | TOMM40 | c.341A>T (p.Gln114Leu) | |
| 19 | g.44892460G>A | CA507798020 | TOMM40 | c.342G>A (p.Gln114=) | |
| 19 | g.44892460G>C | CA406295910 | TOMM40 | c.342G>C (p.Gln114His) | |
| 19 | g.44892460G>T | CA406295911 | TOMM40 | c.342G>T (p.Gln114His) | |
| 19 | g.44892461G>A | CA406295912 | TOMM40 | c.342+1G>A (n.342+1G>A) | |
| 19 | g.44892461G>C | CA406295913 | TOMM40 | c.342+1G>C (n.342+1G>C) | dbSNP |
| 19 | g.44892461G= | CA2338159343 | TOMM40 | c.342+1G= (n.342+1G=) | |
| 19 | g.44892461G>T | CA406295914 | TOMM40 | c.342+1G>T (n.342+1G>T) | |
| 19 | g.44892462T>A | CA406295917 | TOMM40 | c.342+2T>A (n.342+2T>A) | dbSNP |
| 19 | g.44892462T>C | CA406295916 | TOMM40 | c.342+2T>C (n.342+2T>C) | |
| 19 | g.44892462T>G | CA406295915 | TOMM40 | c.342+2T>G (n.342+2T>G) | |
| 19 | g.44892462T= | CA2338159344 | TOMM40 | c.342+2T= (n.342+2T=) | |
| 19 | g.44892463G>A | CA2576811810 | TOMM40 | c.342+3G>A (n.342+3G>A) | |
| 19 | g.44892466C= | CA2338159345 | TOMM40 | c.342+6C= (n.342+6C=) | |
| 19 | g.44892466C>G | CA882678245 | TOMM40 | c.342+6C>G (n.342+6C>G) | dbSNP |
| 19 | g.44892466C>T | CA9505601 | TOMM40 | c.342+6C>T (n.342+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44892467C>A | CA308869529 | TOMM40 | c.342+7C>A (n.342+7C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44892467C= | CA2338159346 | TOMM40 | c.342+7C= (n.342+7C=) | |
| 19 | g.44892467C>T | CA633311699 | TOMM40 | c.342+7C>T (n.342+7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44892470C>A | CA9505602 | TOMM40 | c.342+10C>A (n.342+10C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44892470C= | CA2338159347 | TOMM40 | c.342+10C= (n.342+10C=) |