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 |
|---|---|---|---|---|---|
| MT | m.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5782_13922del | CA250413 | ClinVar | ||
| MT | m.5788_13923del | CA2580618295 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.9438G>A | CA254850 | MT-CO3 | c.232G>A (p.Gly78Ser) | ClinVar dbSNP |
| MT | m.9438G>C | CA414802945 | MT-CO3 | c.232G>C (p.Gly78Arg) | |
| MT | m.9438G= | CA2499566300 | MT-CO3 | c.232G= (p.Gly78=) | |
| MT | m.9438G>T | CA414802946 | MT-CO3 | c.232G>T (p.Gly78Cys) | |
| MT | m.9439G>A | CA414802947 | MT-CO3 | c.233G>A (p.Gly78Asp) | ClinVar dbSNP |
| MT | m.9439G>C | CA414802948 | MT-CO3 | c.233G>C (p.Gly78Ala) | |
| MT | m.9439G= | CA2499566301 | MT-CO3 | c.233G= (p.Gly78=) | |
| MT | m.9439G>T | CA414802949 | MT-CO3 | c.233G>T (p.Gly78Val) | |
| MT | m.9440C>A | CA913181672 | MT-CO3 | c.234C>A (p.Gly78=) | |
| MT | m.9440C= | CA2573322976 | MT-CO3 | c.234C= (p.Gly78=) | |
| MT | m.9440C>G | CA913181671 | MT-CO3 | c.234C>G (p.Gly78=) | |
| MT | m.9440C>T | CA913181670 | MT-CO3 | c.234C>T (p.Gly78=) | dbSNP |
| MT | m.9441C>A | CA414802950 | MT-CO3 | c.235C>A (p.Leu79Ile) | |
| MT | m.9441C= | CA2499566302 | MT-CO3 | c.235C= (p.Leu79=) | |
| MT | m.9441C>G | CA414802951 | MT-CO3 | c.235C>G (p.Leu79Val) | |
| MT | m.9441C>T | CA414802952 | MT-CO3 | c.235C>T (p.Leu79Phe) | |
| MT | m.9442T>A | CA414802953 | MT-CO3 | c.236T>A (p.Leu79His) | |
| MT | m.9442T>C | CA414802954 | MT-CO3 | c.236T>C (p.Leu79Pro) | |
| MT | m.9442T>G | CA414802955 | MT-CO3 | c.236T>G (p.Leu79Arg) | |
| MT | m.9442T= | CA2573322989 | MT-CO3 | c.236T= (p.Leu79=) | |
| MT | m.9443_9444insTTT | CA913190832 | MT-CO3 | c.237_238insTTT (p.Leu79_Arg80insPhe) | ClinVar dbSNP |
| MT | m.9443T>A | CA913181676 | MT-CO3 | c.237T>A (p.Leu79=) | |
| MT | m.9443T>C | CA913181675 | MT-CO3 | c.237T>C (p.Leu79=) | |
| MT | m.9443T>G | CA913181674 | MT-CO3 | c.237T>G (p.Leu79=) | |
| MT | m.9443T= | CA2573322993 | MT-CO3 | c.237T= (p.Leu79=) | |
| MT | m.9444C>A | CA913181680 | MT-CO3 | c.238C>A (p.Arg80=) | |
| MT | m.9444C= | CA2573322998 | MT-CO3 | c.238C= (p.Arg80=) | |
| MT | m.9444C>G | CA414802956 | MT-CO3 | c.238C>G (p.Arg80Gly) | |
| MT | m.9444C>T | CA414802957 | MT-CO3 | c.238C>T (p.Arg80Ter) | |
| MT | m.9445G>A | CA414802958 | MT-CO3 | c.239G>A (p.Arg80Gln) | ClinVar dbSNP |
| MT | m.9445G>C | CA414802959 | MT-CO3 | c.239G>C (p.Arg80Pro) | |
| MT | m.9445G= | CA2499566303 | MT-CO3 | c.239G= (p.Arg80=) | |
| MT | m.9445G>T | CA414802960 | MT-CO3 | c.239G>T (p.Arg80Leu) | |
| MT | m.9446A= | CA2573323010 | MT-CO3 | c.240A= (p.Arg80=) | |
| MT | m.9446A>C | CA913181684 | MT-CO3 | c.240A>C (p.Arg80=) | |
| MT | m.9446A>G | CA913181683 | MT-CO3 | c.240A>G (p.Arg80=) | dbSNP |
| MT | m.9446A>T | CA913181682 | MT-CO3 | c.240A>T (p.Arg80=) | |
| MT | m.9447T>A | CA414802961 | MT-CO3 | c.241T>A (p.Tyr81Asn) | |
| MT | m.9447T>C | CA414802962 | MT-CO3 | c.241T>C (p.Tyr81His) | dbSNP |
| MT | m.9447T>G | CA414802963 | MT-CO3 | c.241T>G (p.Tyr81Asp) | |
| MT | m.9447T= | CA2573323018 | MT-CO3 | c.241T= (p.Tyr81=) | |
| MT | m.9448A= | CA2499566304 | MT-CO3 | c.242A= (p.Tyr81=) | |
| MT | m.9448A>C | CA414802964 | MT-CO3 | c.242A>C (p.Tyr81Ser) | |
| MT | m.9448A>G | CA414802965 | MT-CO3 | c.242A>G (p.Tyr81Cys) | ClinVar dbSNP |
| MT | m.9448A>T | CA414802966 | MT-CO3 | c.242A>T (p.Tyr81Phe) | |
| MT | m.9449C>A | CA414802967 | MT-CO3 | c.243C>A (p.Tyr81Ter) | |
| MT | m.9449C= | CA2499566305 | MT-CO3 | c.243C= (p.Tyr81=) | |
| MT | m.9449C>G | CA414802968 | MT-CO3 | c.243C>G (p.Tyr81Ter) | |
| MT | m.9449C>T | CA337098394 | MT-CO3 | c.243C>T (p.Tyr81=) | dbSNP |
| MT | m.9450G>A | CA414802971 | MT-CO3 | c.244G>A (p.Gly82Arg) | dbSNP |
| MT | m.9450G>C | CA414802969 | MT-CO3 | c.244G>C (p.Gly82Arg) | |
| MT | m.9450G= | CA2573323034 | MT-CO3 | c.244G= (p.Gly82=) | |
| MT | m.9450G>T | CA414802970 | MT-CO3 | c.244G>T (p.Gly82Trp) | |
| MT | m.9451G>A | CA414802972 | MT-CO3 | c.245G>A (p.Gly82Glu) | |
| MT | m.9451G>C | CA414802973 | MT-CO3 | c.245G>C (p.Gly82Ala) | |
| MT | m.9451G= | CA2573323039 | MT-CO3 | c.245G= (p.Gly82=) | |
| MT | m.9451G>T | CA414802974 | MT-CO3 | c.245G>T (p.Gly82Val) | |
| MT | m.9452G>A | CA337098396 | MT-CO3 | c.246G>A (p.Gly82=) | dbSNP |
| MT | m.9452G>C | CA913181689 | MT-CO3 | c.246G>C (p.Gly82=) | |
| MT | m.9452G= | CA2499566306 | MT-CO3 | c.246G= (p.Gly82=) | |
| MT | m.9452G>T | CA913181688 | MT-CO3 | c.246G>T (p.Gly82=) | |
| MT | m.9453A= | CA2573323044 | MT-CO3 | c.247A= (p.Ile83=) | |
| MT | m.9453A>C | CA414802975 | MT-CO3 | c.247A>C (p.Ile83Leu) | |
| MT | m.9453A>G | CA414802976 | MT-CO3 | c.247A>G (p.Ile83Val) | |
| MT | m.9453A>T | CA414802977 | MT-CO3 | c.247A>T (p.Ile83Leu) | |
| MT | m.9454T>A | CA414802978 | MT-CO3 | c.248T>A (p.Ile83Lys) | |
| MT | m.9454T>C | CA414802979 | MT-CO3 | c.248T>C (p.Ile83Thr) | |
| MT | m.9454T>G | CA414802980 | MT-CO3 | c.248T>G (p.Ile83Arg) | |
| MT | m.9454T= | CA2573323049 | MT-CO3 | c.248T= (p.Ile83=) | |
| MT | m.9455A= | CA2573323054 | MT-CO3 | c.249A= (p.Ile83=) | |
| MT | m.9455A>C | CA913181693 | MT-CO3 | c.249A>C (p.Ile83=) | |
| MT | m.9455A>G | CA414802981 | MT-CO3 | c.249A>G (p.Ile83Met) | dbSNP |
| MT | m.9455A>T | CA913181691 | MT-CO3 | c.249A>T (p.Ile83=) | |
| MT | m.9456A= | CA2499566307 | MT-CO3 | c.250A= (p.Ile84=) | |
| MT | m.9456A>C | CA414802982 | MT-CO3 | c.250A>C (p.Ile84Leu) | ClinVar dbSNP |
| MT | m.9456A>G | CA414802984 | MT-CO3 | c.250A>G (p.Ile84Val) | ClinVar dbSNP |
| MT | m.9456A>T | CA414802983 | MT-CO3 | c.250A>T (p.Ile84Phe) | |
| MT | m.9457T>A | CA414802985 | MT-CO3 | c.251T>A (p.Ile84Asn) | |
| MT | m.9457T>C | CA414802987 | MT-CO3 | c.251T>C (p.Ile84Thr) | |
| MT | m.9457T>G | CA414802986 | MT-CO3 | c.251T>G (p.Ile84Ser) | |
| MT | m.9457T= | CA2513216543 | MT-CO3 | c.251T= (p.Ile84=) | |
| MT | m.9458C>A | CA913181696 | MT-CO3 | c.252C>A (p.Ile84=) | |
| MT | m.9458C= | CA2499566308 | MT-CO3 | c.252C= (p.Ile84=) | |
| MT | m.9458C>G | CA414802988 | MT-CO3 | c.252C>G (p.Ile84Met) | |
| MT | m.9458C>T | CA913181695 | MT-CO3 | c.252C>T (p.Ile84=) | dbSNP |
| MT | m.9459C>A | CA414802990 | MT-CO3 | c.253C>A (p.Leu85Ile) | |
| MT | m.9459C= | CA2499566309 | MT-CO3 | c.253C= (p.Leu85=) | |
| MT | m.9459C>G | CA414802989 | MT-CO3 | c.253C>G (p.Leu85Val) | |
| MT | m.9459C>T | CA337098397 | MT-CO3 | c.253C>T (p.Leu85=) | dbSNP |
| MT | m.9460T>A | CA414802991 | MT-CO3 | c.254T>A (p.Leu85Gln) | |
| MT | m.9460T>C | CA414802992 | MT-CO3 | c.254T>C (p.Leu85Pro) | |
| MT | m.9460T>G | CA414802993 | MT-CO3 | c.254T>G (p.Leu85Arg) | |
| MT | m.9460T= | CA2573323076 | MT-CO3 | c.254T= (p.Leu85=) | |
| MT | m.9461A= | CA2499566310 | MT-CO3 | c.255A= (p.Leu85=) | |
| MT | m.9461A>C | CA337098399 | MT-CO3 | c.255A>C (p.Leu85=) | |
| MT | m.9461A>G | CA913181700 | MT-CO3 | c.255A>G (p.Leu85=) | dbSNP |
| MT | m.9461A>T | CA337098401 | MT-CO3 | c.255A>T (p.Leu85=) | |
| MT | m.9462T>A | CA414802994 | MT-CO3 | c.256T>A (p.Phe86Ile) | |
| MT | m.9462T>C | CA414802995 | MT-CO3 | c.256T>C (p.Phe86Leu) | |
| MT | m.9462T>G | CA414802996 | MT-CO3 | c.256T>G (p.Phe86Val) | |
| MT | m.9462T= | CA2573323080 | MT-CO3 | c.256T= (p.Phe86=) | |
| MT | m.9463T>A | CA414802999 | MT-CO3 | c.257T>A (p.Phe86Tyr) | |
| MT | m.9463T>C | CA414802997 | MT-CO3 | c.257T>C (p.Phe86Ser) | |
| MT | m.9463T>G | CA414802998 | MT-CO3 | c.257T>G (p.Phe86Cys) | |
| MT | m.9463T= | CA2573323089 | MT-CO3 | c.257T= (p.Phe86=) | |
| MT | m.9464T>A | CA414803000 | MT-CO3 | c.258T>A (p.Phe86Leu) | |
| MT | m.9464T>C | CA913181704 | MT-CO3 | c.258T>C (p.Phe86=) | dbSNP |
| MT | m.9464T>G | CA414803001 | MT-CO3 | c.258T>G (p.Phe86Leu) | |
| MT | m.9464T= | CA2499566311 | MT-CO3 | c.258T= (p.Phe86=) | |
| MT | m.9465A= | CA2573323095 | MT-CO3 | c.259A= (p.Ile87=) | |
| MT | m.9465A>C | CA414803002 | MT-CO3 | c.259A>C (p.Ile87Leu) | |
| MT | m.9465A>G | CA414803003 | MT-CO3 | c.259A>G (p.Ile87Val) | |
| MT | m.9465A>T | CA414803004 | MT-CO3 | c.259A>T (p.Ile87Phe) | |
| MT | m.9466T>A | CA414803005 | MT-CO3 | c.260T>A (p.Ile87Asn) | |
| MT | m.9466T>C | CA414803006 | MT-CO3 | c.260T>C (p.Ile87Thr) | dbSNP |
| MT | m.9466T>G | CA414803007 | MT-CO3 | c.260T>G (p.Ile87Ser) | |
| MT | m.9466T= | CA2499566312 | MT-CO3 | c.260T= (p.Ile87=) | |
| MT | m.9467T>A | CA913181708 | MT-CO3 | c.261T>A (p.Ile87=) | |
| MT | m.9467T>C | CA10581317 | MT-CO3 | c.261T>C (p.Ile87=) | ClinVar dbSNP |
| MT | m.9467T>G | CA414803008 | MT-CO3 | c.261T>G (p.Ile87Met) | |
| MT | m.9467T= | CA2499566313 | MT-CO3 | c.261T= (p.Ile87=) | |
| MT | m.9468A= | CA2499566314 | MT-CO3 | c.262A= (p.Thr88=) | |
| MT | m.9468A>C | CA414803010 | MT-CO3 | c.262A>C (p.Thr88Pro) | |
| MT | m.9468A>G | CA337098413 | MT-CO3 | c.262A>G (p.Thr88Ala) | ClinVar dbSNP |
| MT | m.9468A>T | CA414803009 | MT-CO3 | c.262A>T (p.Thr88Ser) | |
| MT | m.9469C>A | CA414803011 | MT-CO3 | c.263C>A (p.Thr88Asn) | |
| MT | m.9469C= | CA2499566315 | MT-CO3 | c.263C= (p.Thr88=) | |
| MT | m.9469C>G | CA414803012 | MT-CO3 | c.263C>G (p.Thr88Ser) | |
| MT | m.9469C>T | CA414803013 | MT-CO3 | c.263C>T (p.Thr88Ile) | ClinVar dbSNP |
| MT | m.9470C>A | CA913181716 | MT-CO3 | c.264C>A (p.Thr88=) | |
| MT | m.9470C= | CA2499566316 | MT-CO3 | c.264C= (p.Thr88=) | |
| MT | m.9470C>G | CA913181715 | MT-CO3 | c.264C>G (p.Thr88=) | |
| MT | m.9470C>T | CA337098415 | MT-CO3 | c.264C>T (p.Thr88=) | dbSNP |
| MT | m.9471T>A | CA414803014 | MT-CO3 | c.265T>A (p.Ser89Thr) | |
| MT | m.9471T>C | CA414803015 | MT-CO3 | c.265T>C (p.Ser89Pro) | |
| MT | m.9471T>G | CA414803016 | MT-CO3 | c.265T>G (p.Ser89Ala) | |
| MT | m.9471T= | CA2573323131 | MT-CO3 | c.265T= (p.Ser89=) | |
| MT | m.9472C>A | CA414803017 | MT-CO3 | c.266C>A (p.Ser89Ter) | |
| MT | m.9472C= | CA2573323135 | MT-CO3 | c.266C= (p.Ser89=) | |
| MT | m.9472C>G | CA414803018 | MT-CO3 | c.266C>G (p.Ser89Ter) | |
| MT | m.9472C>T | CA414803019 | MT-CO3 | c.266C>T (p.Ser89Leu) | |
| MT | m.9473A= | CA2499566317 | MT-CO3 | c.267A= (p.Ser89=) | |
| MT | m.9473A>C | CA913181720 | MT-CO3 | c.267A>C (p.Ser89=) | dbSNP |
| MT | m.9473A>G | CA913181719 | MT-CO3 | c.267A>G (p.Ser89=) | |
| MT | m.9473A>T | CA913181718 | MT-CO3 | c.267A>T (p.Ser89=) | |
| MT | m.9474G>A | CA414803022 | MT-CO3 | c.268G>A (p.Glu90Lys) | COSMIC COSMIC |
| MT | m.9474G>C | CA414803021 | MT-CO3 | c.268G>C (p.Glu90Gln) | |
| MT | m.9474G= | CA2573323155 | MT-CO3 | c.268G= (p.Glu90=) | |
| MT | m.9474G>T | CA414803020 | MT-CO3 | c.268G>T (p.Glu90Ter) | |
| MT | m.9475A= | CA2573323159 | MT-CO3 | c.269A= (p.Glu90=) | |
| MT | m.9475A>C | CA414803023 | MT-CO3 | c.269A>C (p.Glu90Ala) | |
| MT | m.9475A>G | CA414803024 | MT-CO3 | c.269A>G (p.Glu90Gly) | |
| MT | m.9475A>T | CA414803025 | MT-CO3 | c.269A>T (p.Glu90Val) | |
| MT | m.9476dup | CA2573105028 | MT-CO3 | c.270dup (p.Val91SerfsTer?) | |
| MT | m.9476A= | CA2513650408 | MT-CO3 | c.270A= (p.Glu90=) | |
| MT | m.9476A>C | CA414803026 | MT-CO3 | c.270A>C (p.Glu90Asp) | |
| MT | m.9476A>G | CA913181722 | MT-CO3 | c.270A>G (p.Glu90=) | |
| MT | m.9476A>T | CA414803027 | MT-CO3 | c.270A>T (p.Glu90Asp) | |
| MT | m.9477del | CA2573105029 | MT-CO3 | c.271del (p.Val91PhefsTer16) | |
| MT | m.9477G>A | CA337098418 | MT-CO3 | c.271G>A (p.Val91Ile) | ClinVar dbSNP |
| MT | m.9477G>C | CA414803028 | MT-CO3 | c.271G>C (p.Val91Leu) | ClinVar dbSNP |
| MT | m.9477G= | CA2499566319 | MT-CO3 | c.271G= (p.Val91=) | |
| MT | m.9477G>T | CA414803029 | MT-CO3 | c.271G>T (p.Val91Phe) | |
| MT | m.9477_9478delinsGT | CA2499566318 | MT-CO3 | c.271_272delinsGT (p.Val91=) | |
| MT | m.9478T>A | CA414803030 | MT-CO3 | c.272T>A (p.Val91Asp) | |
| MT | m.9478T>C | CA345915 | MT-CO3 | c.272T>C (p.Val91Ala) | ClinVar dbSNP |
| MT | m.9478T>G | CA414803031 | MT-CO3 | c.272T>G (p.Val91Gly) | ClinVar dbSNP |
| MT | m.9478T= | CA2499566320 | MT-CO3 | c.272T= (p.Val91=) | |
| MT | m.9484dup | CA920609224 | MT-CO3 | c.278dup (p.Phe94LeufsTer?) | dbSNP |
| MT | m.9484del | CA920609222 | MT-CO3 | c.278del (p.Phe93SerfsTer14) | dbSNP |
| MT | m.9479T>A | CA913181728 | MT-CO3 | c.273T>A (p.Val91=) | |
| MT | m.9479T>C | CA337098423 | MT-CO3 | c.273T>C (p.Val91=) | dbSNP |
| MT | m.9479T>G | CA913181727 | MT-CO3 | c.273T>G (p.Val91=) | |
| MT | m.9479T= | CA2499566322 | MT-CO3 | c.273T= (p.Val91=) | |
| MT | m.9479_9494delinsTTTTTTCTTCGCAGGA | CA2499566321 | MT-CO3 | c.273_288delinsTTTTTTCTTCGCAGGA (p.Val91=) | |
| MT | m.9480T>A | CA414803034 | MT-CO3 | c.274T>A (p.Phe92Ile) | |
| MT | m.9480T>C | CA414803032 | MT-CO3 | c.274T>C (p.Phe92Leu) | ClinVar dbSNP |
| MT | m.9480T>G | CA414803033 | MT-CO3 | c.274T>G (p.Phe92Val) | |
| MT | m.9480T= | CA2499566323 | MT-CO3 | c.274T= (p.Phe92=) | |
| MT | m.9487_9501del | CA120600 | MT-CO3 | c.281_295del (p.Phe94Ter) | ClinVar dbSNP |
| MT | m.9481T>A | CA414803035 | MT-CO3 | c.275T>A (p.Phe92Tyr) | |
| MT | m.9481T>C | CA414803036 | MT-CO3 | c.275T>C (p.Phe92Ser) | ClinVar dbSNP |
| MT | m.9481T>G | CA414803037 | MT-CO3 | c.275T>G (p.Phe92Cys) | |
| MT | m.9481T= | CA2499566324 | MT-CO3 | c.275T= (p.Phe92=) | |
| MT | m.9482T>A | CA414803038 | MT-CO3 | c.276T>A (p.Phe92Leu) | |
| MT | m.9482T>C | CA913181730 | MT-CO3 | c.276T>C (p.Phe92=) | dbSNP |
| MT | m.9482T>G | CA414803039 | MT-CO3 | c.276T>G (p.Phe92Leu) | |
| MT | m.9482T= | CA2499566325 | MT-CO3 | c.276T= (p.Phe92=) | |
| MT | m.9483T>A | CA414803040 | MT-CO3 | c.277T>A (p.Phe93Ile) | |
| MT | m.9483T>C | CA414803041 | MT-CO3 | c.277T>C (p.Phe93Leu) | |
| MT | m.9483T>G | CA414803042 | MT-CO3 | c.277T>G (p.Phe93Val) | |
| MT | m.9483T= | CA2573323230 | MT-CO3 | c.277T= (p.Phe93=) | |
| MT | m.9484T>A | CA414803043 | MT-CO3 | c.278T>A (p.Phe93Tyr) | |
| MT | m.9484T>C | CA414803044 | MT-CO3 | c.278T>C (p.Phe93Ser) | ClinVar dbSNP |
| MT | m.9484T>G | CA414803045 | MT-CO3 | c.278T>G (p.Phe93Cys) | |
| MT | m.9484T= | CA2499566326 | MT-CO3 | c.278T= (p.Phe93=) | |
| MT | m.9485C>A | CA414803046 | MT-CO3 | c.279C>A (p.Phe93Leu) | |
| MT | m.9485C= | CA2573323247 | MT-CO3 | c.279C= (p.Phe93=) | |
| MT | m.9485C>G | CA414803047 | MT-CO3 | c.279C>G (p.Phe93Leu) | |
| MT | m.9485C>T | CA913181734 | MT-CO3 | c.279C>T (p.Phe93=) | |
| MT | m.9486T>A | CA414803050 | MT-CO3 | c.280T>A (p.Phe94Ile) | |
| MT | m.9486T>C | CA414803048 | MT-CO3 | c.280T>C (p.Phe94Leu) | |
| MT | m.9486T>G | CA414803049 | MT-CO3 | c.280T>G (p.Phe94Val) | |
| MT | m.9486T= | CA2573323253 | MT-CO3 | c.280T= (p.Phe94=) | |
| MT | m.9487T>A | CA414803051 | MT-CO3 | c.281T>A (p.Phe94Tyr) | |
| MT | m.9487T>C | CA414803052 | MT-CO3 | c.281T>C (p.Phe94Ser) | |
| MT | m.9487T>G | CA414803053 | MT-CO3 | c.281T>G (p.Phe94Cys) | |
| MT | m.9487T= | CA2512994055 | MT-CO3 | c.281T= (p.Phe94=) | |
| MT | m.9488C>A | CA414803054 | MT-CO3 | c.282C>A (p.Phe94Leu) | |
| MT | m.9488C= | CA2573323261 | MT-CO3 | c.282C= (p.Phe94=) | |
| MT | m.9488C>G | CA414803055 | MT-CO3 | c.282C>G (p.Phe94Leu) | |
| MT | m.9488C>T | CA913181736 | MT-CO3 | c.282C>T (p.Phe94=) | |
| MT | m.9489_9490del | CA2573105030 | MT-CO3 | c.283_284del (p.Ala95ArgfsTer?) | |
| MT | m.9489G>A | CA414803056 | MT-CO3 | c.283G>A (p.Ala95Thr) | ClinVar dbSNP |
| MT | m.9489G>C | CA414803057 | MT-CO3 | c.283G>C (p.Ala95Pro) | |
| MT | m.9489G= | CA2499566327 | MT-CO3 | c.283G= (p.Ala95=) | |
| MT | m.9489G>T | CA414803058 | MT-CO3 | c.283G>T (p.Ala95Ser) | |
| MT | m.9490C>A | CA414803060 | MT-CO3 | c.284C>A (p.Ala95Glu) | |
| MT | m.9490C= | CA2499566328 | MT-CO3 | c.284C= (p.Ala95=) | |
| MT | m.9490C>G | CA414803061 | MT-CO3 | c.284C>G (p.Ala95Gly) | |
| MT | m.9490C>T | CA414803059 | MT-CO3 | c.284C>T (p.Ala95Val) | ClinVar dbSNP |
| MT | m.9491A= | CA2573323283 | MT-CO3 | c.285A= (p.Ala95=) | |
| MT | m.9491A>C | CA913181742 | MT-CO3 | c.285A>C (p.Ala95=) | |
| MT | m.9491A>G | CA913181741 | MT-CO3 | c.285A>G (p.Ala95=) | |
| MT | m.9491A>T | CA913181740 | MT-CO3 | c.285A>T (p.Ala95=) | |
| MT | m.9492G>A | CA414803062 | MT-CO3 | c.286G>A (p.Gly96Arg) | |
| MT | m.9492G>C | CA414803063 | MT-CO3 | c.286G>C (p.Gly96Arg) | |
| MT | m.9492G= | CA2573323289 | MT-CO3 | c.286G= (p.Gly96=) | |
| MT | m.9492G>T | CA414803064 | MT-CO3 | c.286G>T (p.Gly96Ter) | |
| MT | m.9493G>A | CA414803065 | MT-CO3 | c.287G>A (p.Gly96Glu) | |
| MT | m.9493G>C | CA414803066 | MT-CO3 | c.287G>C (p.Gly96Ala) | |
| MT | m.9493G= | CA2513202026 | MT-CO3 | c.287G= (p.Gly96=) | |
| MT | m.9493G>T | CA414803067 | MT-CO3 | c.287G>T (p.Gly96Val) | |
| MT | m.9494A= | CA2499566329 | MT-CO3 | c.288A= (p.Gly96=) | |
| MT | m.9494A>C | CA913181746 | MT-CO3 | c.288A>C (p.Gly96=) | |
| MT | m.9494A>G | CA913181745 | MT-CO3 | c.288A>G (p.Gly96=) | dbSNP |
| MT | m.9494A>T | CA913181743 | MT-CO3 | c.288A>T (p.Gly96=) | |
| MT | m.9495T>A | CA414803068 | MT-CO3 | c.289T>A (p.Phe97Ile) | |
| MT | m.9495T>C | CA414803069 | MT-CO3 | c.289T>C (p.Phe97Leu) | ClinVar dbSNP |
| MT | m.9495T>G | CA414803070 | MT-CO3 | c.289T>G (p.Phe97Val) | |
| MT | m.9495T= | CA2499566330 | MT-CO3 | c.289T= (p.Phe97=) | |
| MT | m.9499dup | CA2740098248 | MT-CO3 | c.293dup (p.Ter99LeuextTer?) | |
| MT | m.9496T>A | CA414803071 | MT-CO3 | c.290T>A (p.Phe97Tyr) | |
| MT | m.9496T>C | CA414803072 | MT-CO3 | c.290T>C (p.Phe97Ser) | |
| MT | m.9496T>G | CA414803073 | MT-CO3 | c.290T>G (p.Phe97Cys) | |
| MT | m.9496T= | CA2573323316 | MT-CO3 | c.290T= (p.Phe97=) | |
| MT | m.9497T>A | CA414803075 | MT-CO3 | c.291T>A (p.Phe97Leu) | |
| MT | m.9497T>C | CA913181748 | MT-CO3 | c.291T>C (p.Phe97=) | dbSNP |
| MT | m.9497T>G | CA414803074 | MT-CO3 | c.291T>G (p.Phe97Leu) | |
| MT | m.9497T= | CA2499566331 | MT-CO3 | c.291T= (p.Phe97=) | |
| MT | m.9498T>A | CA414803076 | MT-CO3 | c.292T>A (p.Phe98Ile) | |
| MT | m.9498T>C | CA414803077 | MT-CO3 | c.292T>C (p.Phe98Leu) | dbSNP |
| MT | m.9498T>G | CA414803078 | MT-CO3 | c.292T>G (p.Phe98Val) | |
| MT | m.9498T= | CA2499566332 | MT-CO3 | c.292T= (p.Phe98=) | |
| MT | m.9499T>A | CA414803079 | MT-CO3 | c.293T>A (p.Phe98Tyr) | |
| MT | m.9499T>C | CA414803080 | MT-CO3 | c.293T>C (p.Phe98Ser) | |
| MT | m.9499T>G | CA414803081 | MT-CO3 | c.293T>G (p.Phe98Cys) | |
| MT | m.9499T= | CA2573323327 | MT-CO3 | c.293T= (p.Phe98=) | |
| MT | m.9500C>A | CA414803082 | MT-CO3 | c.294C>A (p.Phe98Leu) | |
| MT | m.9500C= | CA2573323331 | MT-CO3 | c.294C= (p.Phe98=) | |
| MT | m.9500C>G | CA414803083 | MT-CO3 | c.294C>G (p.Phe98Leu) | |
| MT | m.9500C>T | CA913181750 | MT-CO3 | c.294C>T (p.Phe98=) | |
| MT | m.9501T>A | CA414803084 | MT-CO3 | c.295T>A (p.Ter99Arg) | |
| MT | m.9501T>C | CA414803085 | MT-CO3 | c.295T>C (p.Ter99Arg) | dbSNP |
| MT | m.9501T>G | CA414803086 | MT-CO3 | c.295T>G (p.Ter99Gly) | |
| MT | m.9501T= | CA414803087 | MT-CO3 | c.295T= (p.Ter99=) | |
| MT | m.9502G>A | CA414803090 | MT-CO3 | c.296G>A (p.Ter99=) | |
| MT | m.9502G>C | CA414803091 | MT-CO3 | c.296G>C (p.Ter99Ser) | |
| MT | m.9502G= | CA414803089 | MT-CO3 | c.296G= (p.Ter99=) | |
| MT | m.9502G>T | CA414803088 | MT-CO3 | c.296G>T (p.Ter99Leu) | |
| MT | m.9503A= | CA414803093 | MT-CO3 | c.297A= (p.Ter99=) | |
| MT | m.9503A>C | CA414803092 | MT-CO3 | c.297A>C (p.Ter99Cys) | |
| MT | m.9503A>G | CA414803095 | MT-CO3 | c.297A>G (p.Ter99Trp) | |
| MT | m.9503A>T | CA414803094 | MT-CO3 | c.297A>T (p.Ter99Cys) | |
| MT | m.9504G>A | CA414803096 | MT-CO3 | c.298G>A (p.Ala100Thr) | |
| MT | m.9504G>C | CA414803098 | MT-CO3 | c.298G>C (p.Ala100Pro) | |
| MT | m.9504G= | CA2573323338 | MT-CO3 | c.298G= (p.Ala100=) | |
| MT | m.9504G>T | CA414803097 | MT-CO3 | c.298G>T (p.Ala100Ser) | |
| MT | m.9505C>A | CA414803099 | MT-CO3 | c.299C>A (p.Ala100Asp) | |
| MT | m.9505C= | CA2573323341 | MT-CO3 | c.299C= (p.Ala100=) | |
| MT | m.9505C>G | CA414803100 | MT-CO3 | c.299C>G (p.Ala100Gly) | |
| MT | m.9505C>T | CA414803101 | MT-CO3 | c.299C>T (p.Ala100Val) | |
| MT | m.9506C>A | CA913181759 | MT-CO3 | c.300C>A (p.Ala100=) | |
| MT | m.9506C= | CA2573323342 | MT-CO3 | c.300C= (p.Ala100=) | |
| MT | m.9506C>G | CA913181758 | MT-CO3 | c.300C>G (p.Ala100=) | |
| MT | m.9506C>T | CA913181757 | MT-CO3 | c.300C>T (p.Ala100=) | |
| MT | m.9507T>A | CA414803102 | MT-CO3 | c.301T>A (p.Phe101Ile) | |
| MT | m.9507T>C | CA414803103 | MT-CO3 | c.301T>C (p.Phe101Leu) | |
| MT | m.9507T>G | CA414803104 | MT-CO3 | c.301T>G (p.Phe101Val) | |
| MT | m.9507T= | CA2573323345 | MT-CO3 | c.301T= (p.Phe101=) | |
| MT | m.9510del | CA2573105031 | MT-CO3 | c.304del (p.Tyr102ThrfsTer5) | |
| MT | m.9508T>A | CA414803105 | MT-CO3 | c.302T>A (p.Phe101Tyr) | ClinVar dbSNP |
| MT | m.9508T>C | CA414803106 | MT-CO3 | c.302T>C (p.Phe101Ser) | |
| MT | m.9508T>G | CA414803107 | MT-CO3 | c.302T>G (p.Phe101Cys) | |
| MT | m.9508T= | CA2499566333 | MT-CO3 | c.302T= (p.Phe101=) | |
| MT | m.9509T>A | CA414803108 | MT-CO3 | c.303T>A (p.Phe101Leu) | |
| MT | m.9509T>C | CA10581383 | MT-CO3 | c.303T>C (p.Phe101=) | ClinVar dbSNP |
| MT | m.9509T>G | CA414803109 | MT-CO3 | c.303T>G (p.Phe101Leu) | |
| MT | m.9509T= | CA2499566334 | MT-CO3 | c.303T= (p.Phe101=) | |
| MT | m.9510T>A | CA414803110 | MT-CO3 | c.304T>A (p.Tyr102Asn) | |
| MT | m.9510T>C | CA414803112 | MT-CO3 | c.304T>C (p.Tyr102His) | |
| MT | m.9510T>G | CA414803111 | MT-CO3 | c.304T>G (p.Tyr102Asp) | |
| MT | m.9510T= | CA2573323363 | MT-CO3 | c.304T= (p.Tyr102=) | |
| MT | m.9511A= | CA2573323366 | MT-CO3 | c.305A= (p.Tyr102=) | |
| MT | m.9511A>C | CA414803113 | MT-CO3 | c.305A>C (p.Tyr102Ser) | |
| MT | m.9511A>G | CA414803114 | MT-CO3 | c.305A>G (p.Tyr102Cys) | |
| MT | m.9511A>T | CA414803115 | MT-CO3 | c.305A>T (p.Tyr102Phe) | |
| MT | m.9512C>A | CA414803116 | MT-CO3 | c.306C>A (p.Tyr102Ter) | |
| MT | m.9512C= | CA2499566335 | MT-CO3 | c.306C= (p.Tyr102=) | |
| MT | m.9512C>G | CA414803117 | MT-CO3 | c.306C>G (p.Tyr102Ter) | |
| MT | m.9512C>T | CA337098428 | MT-CO3 | c.306C>T (p.Tyr102=) | dbSNP |
| MT | m.9513C>A | CA414803118 | MT-CO3 | c.307C>A (p.His103Asn) | |
| MT | m.9513C= | CA2573323370 | MT-CO3 | c.307C= (p.His103=) | |
| MT | m.9513C>G | CA414803119 | MT-CO3 | c.307C>G (p.His103Asp) | |
| MT | m.9513C>T | CA414803120 | MT-CO3 | c.307C>T (p.His103Tyr) | |
| MT | m.9514A= | CA2573323376 | MT-CO3 | c.308A= (p.His103=) | |
| MT | m.9514A>C | CA414803123 | MT-CO3 | c.308A>C (p.His103Pro) | |
| MT | m.9514A>G | CA414803122 | MT-CO3 | c.308A>G (p.His103Arg) | |
| MT | m.9514A>T | CA414803121 | MT-CO3 | c.308A>T (p.His103Leu) | |
| MT | m.9515C>A | CA414803125 | MT-CO3 | c.309C>A (p.His103Gln) | |
| MT | m.9515C= | CA2499566336 | MT-CO3 | c.309C= (p.His103=) | |
| MT | m.9515C>G | CA414803124 | MT-CO3 | c.309C>G (p.His103Gln) | |
| MT | m.9515C>T | CA913181767 | MT-CO3 | c.309C>T (p.His103=) | dbSNP |
| MT | m.9516T>A | CA414803126 | MT-CO3 | c.310T>A (p.Ser104Thr) | |
| MT | m.9516T>C | CA414803127 | MT-CO3 | c.310T>C (p.Ser104Pro) | |
| MT | m.9516T>G | CA414803128 | MT-CO3 | c.310T>G (p.Ser104Ala) | |
| MT | m.9516T= | CA2573323379 | MT-CO3 | c.310T= (p.Ser104=) | |
| MT | m.9517C>A | CA414803129 | MT-CO3 | c.311C>A (p.Ser104Tyr) | |
| MT | m.9517C= | CA2573323381 | MT-CO3 | c.311C= (p.Ser104=) | |
| MT | m.9517C>G | CA414803130 | MT-CO3 | c.311C>G (p.Ser104Cys) | |
| MT | m.9517C>T | CA414803131 | MT-CO3 | c.311C>T (p.Ser104Phe) | |
| MT | m.9518C>A | CA913181770 | MT-CO3 | c.312C>A (p.Ser104=) | |
| MT | m.9518C= | CA2573323385 | MT-CO3 | c.312C= (p.Ser104=) | |
| MT | m.9518C>G | CA913181772 | MT-CO3 | c.312C>G (p.Ser104=) | |
| MT | m.9518C>T | CA913181771 | MT-CO3 | c.312C>T (p.Ser104=) | |
| MT | m.9519A= | CA2573323386 | MT-CO3 | c.313A= (p.Ser105=) | |
| MT | m.9519A>C | CA414803132 | MT-CO3 | c.313A>C (p.Ser105Arg) | |
| MT | m.9519A>G | CA414803133 | MT-CO3 | c.313A>G (p.Ser105Gly) | |
| MT | m.9519A>T | CA414803134 | MT-CO3 | c.313A>T (p.Ser105Cys) | |
| MT | m.9519_9520del | CA2573105032 | MT-CO3 | c.313_314del (p.Ser105ProfsTer?) | |
| MT | m.9520G>A | CA414803135 | MT-CO3 | c.314G>A (p.Ser105Asn) | |
| MT | m.9520G>C | CA414803136 | MT-CO3 | c.314G>C (p.Ser105Thr) | |
| MT | m.9520G= | CA2573323389 | MT-CO3 | c.314G= (p.Ser105=) | |
| MT | m.9520G>T | CA414803137 | MT-CO3 | c.314G>T (p.Ser105Ile) | |
| MT | m.9521C>A | CA414803138 | MT-CO3 | c.315C>A (p.Ser105Arg) | |
| MT | m.9521C= | CA2573323395 | MT-CO3 | c.315C= (p.Ser105=) | |
| MT | m.9521C>G | CA414803139 | MT-CO3 | c.315C>G (p.Ser105Arg) | |
| MT | m.9521C>T | CA913181776 | MT-CO3 | c.315C>T (p.Ser105=) | |
| MT | m.9522C>A | CA414803140 | MT-CO3 | c.316C>A (p.Leu106Ile) | |
| MT | m.9522C= | CA2573323398 | MT-CO3 | c.316C= (p.Leu106=) | |
| MT | m.9522C>G | CA414803141 | MT-CO3 | c.316C>G (p.Leu106Val) | |
| MT | m.9522C>T | CA913181777 | MT-CO3 | c.316C>T (p.Leu106=) | |
| MT | m.9523T>A | CA414803142 | MT-CO3 | c.317T>A (p.Leu106Gln) | |
| MT | m.9523T>C | CA414803143 | MT-CO3 | c.317T>C (p.Leu106Pro) | |
| MT | m.9523T>G | CA414803144 | MT-CO3 | c.317T>G (p.Leu106Arg) | |
| MT | m.9523T= | CA2573323403 | MT-CO3 | c.317T= (p.Leu106=) | |
| MT | m.9523_9525del | CA2573105033 | MT-CO3 | c.317_319del (p.Leu106_Ala107delinsPro) | |
| MT | m.9524A= | CA2499566337 | MT-CO3 | c.318A= (p.Leu106=) | |
| MT | m.9524A>C | CA913181780 | MT-CO3 | c.318A>C (p.Leu106=) | |
| MT | m.9524A>G | CA913181779 | MT-CO3 | c.318A>G (p.Leu106=) | dbSNP |
| MT | m.9524A>T | CA913181778 | MT-CO3 | c.318A>T (p.Leu106=) | |
| MT | m.9525G>A | CA337098429 | MT-CO3 | c.319G>A (p.Ala107Thr) | ClinVar dbSNP |
| MT | m.9525G>C | CA414803145 | MT-CO3 | c.319G>C (p.Ala107Pro) | |
| MT | m.9525G= | CA2499566338 | MT-CO3 | c.319G= (p.Ala107=) | |
| MT | m.9525G>T | CA414803146 | MT-CO3 | c.319G>T (p.Ala107Ser) | |
| MT | m.9526C>A | CA414803147 | MT-CO3 | c.320C>A (p.Ala107Asp) | |
| MT | m.9526C= | CA2573323410 | MT-CO3 | c.320C= (p.Ala107=) | |
| MT | m.9526C>G | CA414803148 | MT-CO3 | c.320C>G (p.Ala107Gly) | |
| MT | m.9526C>T | CA414803149 | MT-CO3 | c.320C>T (p.Ala107Val) | |
| MT | m.9527C>A | CA913181784 | MT-CO3 | c.321C>A (p.Ala107=) | |
| MT | m.9527C= | CA2499566339 | MT-CO3 | c.321C= (p.Ala107=) | |
| MT | m.9527C>G | CA913181783 | MT-CO3 | c.321C>G (p.Ala107=) | |
| MT | m.9527C>T | CA913181781 | MT-CO3 | c.321C>T (p.Ala107=) | dbSNP |
| MT | m.9528C>A | CA414803151 | MT-CO3 | c.322C>A (p.Pro108Thr) | |
| MT | m.9528C= | CA2573323414 | MT-CO3 | c.322C= (p.Pro108=) | |
| MT | m.9528C>G | CA414803152 | MT-CO3 | c.322C>G (p.Pro108Ala) | |
| MT | m.9528C>T | CA414803150 | MT-CO3 | c.322C>T (p.Pro108Ser) | |
| MT | m.9529C>A | CA414803153 | MT-CO3 | c.323C>A (p.Pro108His) | |
| MT | m.9529C= | CA2513037784 | MT-CO3 | c.323C= (p.Pro108=) | |
| MT | m.9529C>G | CA414803154 | MT-CO3 | c.323C>G (p.Pro108Arg) | |
| MT | m.9529C>T | CA414803155 | MT-CO3 | c.323C>T (p.Pro108Leu) | |
| MT | m.9530T>A | CA913181788 | MT-CO3 | c.324T>A (p.Pro108=) | dbSNP |
| MT | m.9530T>C | CA337098432 | MT-CO3 | c.324T>C (p.Pro108=) | dbSNP |
| MT | m.9530T>G | CA913181786 | MT-CO3 | c.324T>G (p.Pro108=) | |
| MT | m.9530T= | CA2499566340 | MT-CO3 | c.324T= (p.Pro108=) | |
| MT | m.9530_9531del | CA2573105034 | MT-CO3 | c.324_325del (p.Thr109ProfsTer?) | |
| MT | m.9531A= | CA2499566341 | MT-CO3 | c.325A= (p.Thr109=) | |
| MT | m.9531A>C | CA337098435 | MT-CO3 | c.325A>C (p.Thr109Pro) | |
| MT | m.9531A>G | CA414803156 | MT-CO3 | c.325A>G (p.Thr109Ala) | ClinVar dbSNP |
| MT | m.9531A>T | CA337098438 | MT-CO3 | c.325A>T (p.Thr109Ser) | |
| MT | m.9532C>A | CA414803157 | MT-CO3 | c.326C>A (p.Thr109Asn) | |
| MT | m.9532C= | CA2573323423 | MT-CO3 | c.326C= (p.Thr109=) | |
| MT | m.9532C>G | CA414803158 | MT-CO3 | c.326C>G (p.Thr109Ser) | |
| MT | m.9532C>T | CA414803159 | MT-CO3 | c.326C>T (p.Thr109Ile) | |
| MT | m.9537dup | CA120602 | MT-CO3 | c.331dup (p.Gln111ProfsTer?) | ClinVar dbSNP |
| MT | m.9533C>A | CA913181793 | MT-CO3 | c.327C>A (p.Thr109=) | |
| MT | m.9533C= | CA2573323426 | MT-CO3 | c.327C= (p.Thr109=) | |
| MT | m.9533C>G | CA913181791 | MT-CO3 | c.327C>G (p.Thr109=) | |
| MT | m.9533C>T | CA913181790 | MT-CO3 | c.327C>T (p.Thr109=) | |
| MT | m.9540_9561del | CA2740098256 | MT-CO3 | c.334_355del (p.Leu112GlnfsTer6) | |
| MT | m.9534C>A | CA414803160 | MT-CO3 | c.328C>A (p.Pro110Thr) | |
| MT | m.9534C= | CA2573323429 | MT-CO3 | c.328C= (p.Pro110=) | |
| MT | m.9534C>G | CA414803161 | MT-CO3 | c.328C>G (p.Pro110Ala) | |
| MT | m.9534C>T | CA414803162 | MT-CO3 | c.328C>T (p.Pro110Ser) | |
| MT | m.9535C>A | CA414803165 | MT-CO3 | c.329C>A (p.Pro110His) | |
| MT | m.9535C= | CA2573323431 | MT-CO3 | c.329C= (p.Pro110=) | |
| MT | m.9535C>G | CA414803163 | MT-CO3 | c.329C>G (p.Pro110Arg) | |
| MT | m.9535C>T | CA414803164 | MT-CO3 | c.329C>T (p.Pro110Leu) | |
| MT | m.9536C>A | CA913181797 | MT-CO3 | c.330C>A (p.Pro110=) | |
| MT | m.9536C= | CA2499566342 | MT-CO3 | c.330C= (p.Pro110=) | |
| MT | m.9536C>G | CA913181796 | MT-CO3 | c.330C>G (p.Pro110=) | |
| MT | m.9536C>T | CA913181795 | MT-CO3 | c.330C>T (p.Pro110=) | dbSNP |
| MT | m.9537C>A | CA414803166 | MT-CO3 | c.331C>A (p.Gln111Lys) | |
| MT | m.9537C= | CA2573323435 | MT-CO3 | c.331C= (p.Gln111=) | |
| MT | m.9537C>G | CA414803167 | MT-CO3 | c.331C>G (p.Gln111Glu) | |
| MT | m.9537C>T | CA414803168 | MT-CO3 | c.331C>T (p.Gln111Ter) | |
| MT | m.9538A= | CA2573323438 | MT-CO3 | c.332A= (p.Gln111=) | |
| MT | m.9538A>C | CA414803169 | MT-CO3 | c.332A>C (p.Gln111Pro) | |
| MT | m.9538A>G | CA414803170 | MT-CO3 | c.332A>G (p.Gln111Arg) | |
| MT | m.9538A>T | CA414803171 | MT-CO3 | c.332A>T (p.Gln111Leu) | |
| MT | m.9538_9554del | CA2573105035 | MT-CO3 | c.332_348del (p.Gln111ProfsTer?) |