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.7136A= | CA2573326756 | MT-CO1 | c.1233A= (p.Lys411=) | |
| MT | m.7136A>C | CA414791463 | MT-CO1 | c.1233A>C (p.Lys411Asn) | |
| MT | m.7136A>G | CA913182301 | MT-CO1 | c.1233A>G (p.Lys411=) | |
| MT | m.7136A>T | CA414791465 | MT-CO1 | c.1233A>T (p.Lys411Asn) | |
| MT | m.7137A= | CA2573326758 | MT-CO1 | c.1234A= (p.Ile412=) | |
| MT | m.7137A>C | CA414791469 | MT-CO1 | c.1234A>C (p.Ile412Leu) | |
| MT | m.7137A>G | CA414791472 | MT-CO1 | c.1234A>G (p.Ile412Val) | |
| MT | m.7137A>T | CA414791474 | MT-CO1 | c.1234A>T (p.Ile412Phe) | |
| MT | m.7138T>A | CA414791477 | MT-CO1 | c.1235T>A (p.Ile412Asn) | |
| MT | m.7138T>C | CA414791482 | MT-CO1 | c.1235T>C (p.Ile412Thr) | ClinVar dbSNP |
| MT | m.7138T>G | CA414791480 | MT-CO1 | c.1235T>G (p.Ile412Ser) | |
| MT | m.7138T= | CA2499565039 | MT-CO1 | c.1235T= (p.Ile412=) | |
| MT | m.7139C>A | CA913182303 | MT-CO1 | c.1236C>A (p.Ile412=) | |
| MT | m.7139C= | CA2573326763 | MT-CO1 | c.1236C= (p.Ile412=) | |
| MT | m.7139C>G | CA414791486 | MT-CO1 | c.1236C>G (p.Ile412Met) | |
| MT | m.7139C>T | CA913182304 | MT-CO1 | c.1236C>T (p.Ile412=) | dbSNP |
| MT | m.7140C>A | CA414791491 | MT-CO1 | c.1237C>A (p.His413Asn) | |
| MT | m.7140C= | CA2573326767 | MT-CO1 | c.1237C= (p.His413=) | |
| MT | m.7140C>G | CA414791493 | MT-CO1 | c.1237C>G (p.His413Asp) | |
| MT | m.7140C>T | CA414791496 | MT-CO1 | c.1237C>T (p.His413Tyr) | |
| MT | m.7141A= | CA2573326772 | MT-CO1 | c.1238A= (p.His413=) | |
| MT | m.7141A>C | CA414791499 | MT-CO1 | c.1238A>C (p.His413Pro) | |
| MT | m.7141A>G | CA414791501 | MT-CO1 | c.1238A>G (p.His413Arg) | |
| MT | m.7141A>T | CA414791504 | MT-CO1 | c.1238A>T (p.His413Leu) | |
| MT | m.7142T>A | CA414791509 | MT-CO1 | c.1239T>A (p.His413Gln) | |
| MT | m.7142T>C | CA337097555 | MT-CO1 | c.1239T>C (p.His413=) | dbSNP |
| MT | m.7142T>G | CA414791514 | MT-CO1 | c.1239T>G (p.His413Gln) | |
| MT | m.7142T= | CA2499565040 | MT-CO1 | c.1239T= (p.His413=) | |
| MT | m.7143T>A | CA414791517 | MT-CO1 | c.1240T>A (p.Phe414Ile) | |
| MT | m.7143T>C | CA337097557 | MT-CO1 | c.1240T>C (p.Phe414Leu) | dbSNP |
| MT | m.7143T>G | CA414791521 | MT-CO1 | c.1240T>G (p.Phe414Val) | |
| MT | m.7143T= | CA2499565041 | MT-CO1 | c.1240T= (p.Phe414=) | |
| MT | m.7144T>A | CA414791527 | MT-CO1 | c.1241T>A (p.Phe414Tyr) | |
| MT | m.7144T>C | CA414791529 | MT-CO1 | c.1241T>C (p.Phe414Ser) | |
| MT | m.7144T>G | CA414791532 | MT-CO1 | c.1241T>G (p.Phe414Cys) | |
| MT | m.7144T= | CA2573326775 | MT-CO1 | c.1241T= (p.Phe414=) | |
| MT | m.7145C>A | CA414791536 | MT-CO1 | c.1242C>A (p.Phe414Leu) | |
| MT | m.7145C= | CA2499565042 | MT-CO1 | c.1242C= (p.Phe414=) | |
| MT | m.7145C>G | CA414791537 | MT-CO1 | c.1242C>G (p.Phe414Leu) | |
| MT | m.7145C>T | CA913182309 | MT-CO1 | c.1242C>T (p.Phe414=) | dbSNP |
| MT | m.7146A= | CA2499565043 | MT-CO1 | c.1243A= (p.Thr415=) | |
| MT | m.7146A>C | CA414791540 | MT-CO1 | c.1243A>C (p.Thr415Pro) | |
| MT | m.7146A>G | CA337097559 | MT-CO1 | c.1243A>G (p.Thr415Ala) | ClinVar dbSNP |
| MT | m.7146A>T | CA414791539 | MT-CO1 | c.1243A>T (p.Thr415Ser) | |
| MT | m.7146_7147delinsGT | CA915952044 | MT-CO1 | c.1243_1244delinsGT (p.Thr415Val) | ClinVar |
| MT | m.7147C>A | CA414791544 | MT-CO1 | c.1244C>A (p.Thr415Asn) | |
| MT | m.7147C= | CA2499565044 | MT-CO1 | c.1244C= (p.Thr415=) | |
| MT | m.7147C>G | CA414791546 | MT-CO1 | c.1244C>G (p.Thr415Ser) | |
| MT | m.7147C>T | CA414791549 | MT-CO1 | c.1244C>T (p.Thr415Ile) | ClinVar dbSNP |
| MT | m.7148T>A | CA913182316 | MT-CO1 | c.1245T>A (p.Thr415=) | |
| MT | m.7148T>C | CA913182315 | MT-CO1 | c.1245T>C (p.Thr415=) | dbSNP |
| MT | m.7148T>G | CA913182313 | MT-CO1 | c.1245T>G (p.Thr415=) | |
| MT | m.7148T= | CA2499565045 | MT-CO1 | c.1245T= (p.Thr415=) | |
| MT | m.7149A= | CA2499565046 | MT-CO1 | c.1246A= (p.Ile416=) | |
| MT | m.7149A>C | CA414791551 | MT-CO1 | c.1246A>C (p.Ile416Leu) | |
| MT | m.7149A>G | CA414791554 | MT-CO1 | c.1246A>G (p.Ile416Val) | ClinVar dbSNP |
| MT | m.7149A>T | CA414791557 | MT-CO1 | c.1246A>T (p.Ile416Phe) | |
| MT | m.7150T>A | CA414791560 | MT-CO1 | c.1247T>A (p.Ile416Asn) | |
| MT | m.7150T>C | CA414791564 | MT-CO1 | c.1247T>C (p.Ile416Thr) | ClinVar dbSNP |
| MT | m.7150T>G | CA414791562 | MT-CO1 | c.1247T>G (p.Ile416Ser) | |
| MT | m.7150T= | CA2499565047 | MT-CO1 | c.1247T= (p.Ile416=) | |
| MT | m.7151C>A | CA913182318 | MT-CO1 | c.1248C>A (p.Ile416=) | |
| MT | m.7151C= | CA2499565048 | MT-CO1 | c.1248C= (p.Ile416=) | |
| MT | m.7151C>G | CA414791568 | MT-CO1 | c.1248C>G (p.Ile416Met) | |
| MT | m.7151C>T | CA913182317 | MT-CO1 | c.1248C>T (p.Ile416=) | dbSNP |
| MT | m.7152A= | CA2573326793 | MT-CO1 | c.1249A= (p.Ile417=) | |
| MT | m.7152A>C | CA414791572 | MT-CO1 | c.1249A>C (p.Ile417Leu) | |
| MT | m.7152A>G | CA414791574 | MT-CO1 | c.1249A>G (p.Ile417Val) | |
| MT | m.7152A>T | CA414791576 | MT-CO1 | c.1249A>T (p.Ile417Leu) | |
| MT | m.7154_7155del | CA2573104840 | MT-CO1 | c.1251_1252del (p.Phe418HisfsTer?) | |
| MT | m.7153T>A | CA414791579 | MT-CO1 | c.1250T>A (p.Ile417Lys) | |
| MT | m.7153T>C | CA414791583 | MT-CO1 | c.1250T>C (p.Ile417Thr) | ClinVar dbSNP |
| MT | m.7153T>G | CA414791585 | MT-CO1 | c.1250T>G (p.Ile417Arg) | |
| MT | m.7153T= | CA2499565049 | MT-CO1 | c.1250T= (p.Ile417=) | |
| MT | m.7154A= | CA2499565050 | MT-CO1 | c.1251A= (p.Ile417=) | |
| MT | m.7154A>C | CA913182319 | MT-CO1 | c.1251A>C (p.Ile417=) | |
| MT | m.7154A>G | CA414791587 | MT-CO1 | c.1251A>G (p.Ile417Met) | dbSNP |
| MT | m.7154A>T | CA913182320 | MT-CO1 | c.1251A>T (p.Ile417=) | |
| MT | m.7155T>A | CA414791589 | MT-CO1 | c.1252T>A (p.Phe418Ile) | |
| MT | m.7155T>C | CA414791592 | MT-CO1 | c.1252T>C (p.Phe418Leu) | ClinVar dbSNP |
| MT | m.7155T>G | CA414791594 | MT-CO1 | c.1252T>G (p.Phe418Val) | |
| MT | m.7155T= | CA2499565051 | MT-CO1 | c.1252T= (p.Phe418=) | |
| MT | m.7156T>A | CA414791598 | MT-CO1 | c.1253T>A (p.Phe418Tyr) | |
| MT | m.7156T>C | CA414791603 | MT-CO1 | c.1253T>C (p.Phe418Ser) | dbSNP |
| MT | m.7156T>G | CA414791600 | MT-CO1 | c.1253T>G (p.Phe418Cys) | |
| MT | m.7156T= | CA2573326804 | MT-CO1 | c.1253T= (p.Phe418=) | |
| MT | m.7157C>A | CA414791607 | MT-CO1 | c.1254C>A (p.Phe418Leu) | |
| MT | m.7157C= | CA2499565052 | MT-CO1 | c.1254C= (p.Phe418=) | |
| MT | m.7157C>G | CA414791608 | MT-CO1 | c.1254C>G (p.Phe418Leu) | |
| MT | m.7157C>T | CA913182322 | MT-CO1 | c.1254C>T (p.Phe418=) | dbSNP |
| MT | m.7158A= | CA2499565053 | MT-CO1 | c.1255A= (p.Ile419=) | |
| MT | m.7158A>C | CA414791611 | MT-CO1 | c.1255A>C (p.Ile419Leu) | ClinVar dbSNP |
| MT | m.7158A>G | CA337097561 | MT-CO1 | c.1255A>G (p.Ile419Val) | ClinVar dbSNP |
| MT | m.7158A>T | CA414791615 | MT-CO1 | c.1255A>T (p.Ile419Phe) | dbSNP |
| MT | m.7159T>A | CA414791618 | MT-CO1 | c.1256T>A (p.Ile419Asn) | |
| MT | m.7159T>C | CA337097563 | MT-CO1 | c.1256T>C (p.Ile419Thr) | ClinVar dbSNP |
| MT | m.7159T>G | CA414791623 | MT-CO1 | c.1256T>G (p.Ile419Ser) | |
| MT | m.7159T= | CA2499565054 | MT-CO1 | c.1256T= (p.Ile419=) | |
| MT | m.7160C>A | CA913182327 | MT-CO1 | c.1257C>A (p.Ile419=) | |
| MT | m.7160C= | CA2573326814 | MT-CO1 | c.1257C= (p.Ile419=) | |
| MT | m.7160C>G | CA414791625 | MT-CO1 | c.1257C>G (p.Ile419Met) | |
| MT | m.7160C>T | CA913182326 | MT-CO1 | c.1257C>T (p.Ile419=) | |
| MT | m.7161G>A | CA414791629 | MT-CO1 | c.1258G>A (p.Gly420Ser) | |
| MT | m.7161G>C | CA414791632 | MT-CO1 | c.1258G>C (p.Gly420Arg) | |
| MT | m.7161G= | CA2573326816 | MT-CO1 | c.1258G= (p.Gly420=) | |
| MT | m.7161G>T | CA414791634 | MT-CO1 | c.1258G>T (p.Gly420Cys) | |
| MT | m.7162G>A | CA414791638 | MT-CO1 | c.1259G>A (p.Gly420Asp) | |
| MT | m.7162G>C | CA414791642 | MT-CO1 | c.1259G>C (p.Gly420Ala) | |
| MT | m.7162G= | CA2573326819 | MT-CO1 | c.1259G= (p.Gly420=) | |
| MT | m.7162G>T | CA414791639 | MT-CO1 | c.1259G>T (p.Gly420Val) | |
| MT | m.7163C>A | CA913182328 | MT-CO1 | c.1260C>A (p.Gly420=) | |
| MT | m.7163C= | CA2573326820 | MT-CO1 | c.1260C= (p.Gly420=) | |
| MT | m.7163C>G | CA913182330 | MT-CO1 | c.1260C>G (p.Gly420=) | |
| MT | m.7163C>T | CA913182329 | MT-CO1 | c.1260C>T (p.Gly420=) | |
| MT | m.7164G>A | CA414791645 | MT-CO1 | c.1261G>A (p.Val421Ile) | |
| MT | m.7164G>C | CA414791648 | MT-CO1 | c.1261G>C (p.Val421Leu) | |
| MT | m.7164G= | CA2573326823 | MT-CO1 | c.1261G= (p.Val421=) | |
| MT | m.7164G>T | CA414791650 | MT-CO1 | c.1261G>T (p.Val421Leu) | |
| MT | m.7165T>A | CA414791654 | MT-CO1 | c.1262T>A (p.Val421Glu) | |
| MT | m.7165T>C | CA414791657 | MT-CO1 | c.1262T>C (p.Val421Ala) | |
| MT | m.7165T>G | CA414791660 | MT-CO1 | c.1262T>G (p.Val421Gly) | |
| MT | m.7165T= | CA2573326825 | MT-CO1 | c.1262T= (p.Val421=) | |
| MT | m.7166A= | CA2573326826 | MT-CO1 | c.1263A= (p.Val421=) | |
| MT | m.7166A>C | CA913182333 | MT-CO1 | c.1263A>C (p.Val421=) | |
| MT | m.7166A>G | CA913182332 | MT-CO1 | c.1263A>G (p.Val421=) | |
| MT | m.7166A>T | CA913182331 | MT-CO1 | c.1263A>T (p.Val421=) | |
| MT | m.7167A= | CA2573326828 | MT-CO1 | c.1264A= (p.Asn422=) | |
| MT | m.7167A>C | CA414791664 | MT-CO1 | c.1264A>C (p.Asn422His) | |
| MT | m.7167A>G | CA414791666 | MT-CO1 | c.1264A>G (p.Asn422Asp) | |
| MT | m.7167A>T | CA414791668 | MT-CO1 | c.1264A>T (p.Asn422Tyr) | |
| MT | m.7168A= | CA2499565055 | MT-CO1 | c.1265A= (p.Asn422=) | |
| MT | m.7168A>C | CA414791678 | MT-CO1 | c.1265A>C (p.Asn422Thr) | |
| MT | m.7168A>G | CA414791672 | MT-CO1 | c.1265A>G (p.Asn422Ser) | ClinVar dbSNP |
| MT | m.7168A>T | CA414791675 | MT-CO1 | c.1265A>T (p.Asn422Ile) | |
| MT | m.7169T>A | CA414791681 | MT-CO1 | c.1266T>A (p.Asn422Lys) | |
| MT | m.7169T>C | CA913182335 | MT-CO1 | c.1266T>C (p.Asn422=) | dbSNP |
| MT | m.7169T>G | CA414791683 | MT-CO1 | c.1266T>G (p.Asn422Lys) | |
| MT | m.7169T= | CA2499565056 | MT-CO1 | c.1266T= (p.Asn422=) | |
| MT | m.7170C>A | CA414791686 | MT-CO1 | c.1267C>A (p.Leu423Ile) | dbSNP |
| MT | m.7170C= | CA2499565057 | MT-CO1 | c.1267C= (p.Leu423=) | |
| MT | m.7170C>G | CA414791688 | MT-CO1 | c.1267C>G (p.Leu423Val) | |
| MT | m.7170C>T | CA913182336 | MT-CO1 | c.1267C>T (p.Leu423=) | dbSNP |
| MT | m.7171T>A | CA414791693 | MT-CO1 | c.1268T>A (p.Leu423Gln) | |
| MT | m.7171T>C | CA414791694 | MT-CO1 | c.1268T>C (p.Leu423Pro) | |
| MT | m.7171T>G | CA414791698 | MT-CO1 | c.1268T>G (p.Leu423Arg) | |
| MT | m.7171T= | CA2573326832 | MT-CO1 | c.1268T= (p.Leu423=) | |
| MT | m.7172A= | CA2573326833 | MT-CO1 | c.1269A= (p.Leu423=) | |
| MT | m.7172A>C | CA913182341 | MT-CO1 | c.1269A>C (p.Leu423=) | |
| MT | m.7172A>G | CA913182342 | MT-CO1 | c.1269A>G (p.Leu423=) | |
| MT | m.7172A>T | CA913182340 | MT-CO1 | c.1269A>T (p.Leu423=) | |
| MT | m.7173A= | CA2573326835 | MT-CO1 | c.1270A= (p.Thr424=) | |
| MT | m.7173A>C | CA414791702 | MT-CO1 | c.1270A>C (p.Thr424Pro) | |
| MT | m.7173A>G | CA414791703 | MT-CO1 | c.1270A>G (p.Thr424Ala) | |
| MT | m.7173A>T | CA414791706 | MT-CO1 | c.1270A>T (p.Thr424Ser) | |
| MT | m.7174C>A | CA414791709 | MT-CO1 | c.1271C>A (p.Thr424Asn) | |
| MT | m.7174C= | CA2513028455 | MT-CO1 | c.1271C= (p.Thr424=) | |
| MT | m.7174C>G | CA414791712 | MT-CO1 | c.1271C>G (p.Thr424Ser) | |
| MT | m.7174C>T | CA414791714 | MT-CO1 | c.1271C>T (p.Thr424Ile) | |
| MT | m.7175T>A | CA913182347 | MT-CO1 | c.1272T>A (p.Thr424=) | |
| MT | m.7175T>C | CA10581307 | MT-CO1 | c.1272T>C (p.Thr424=) | ClinVar dbSNP |
| MT | m.7175T>G | CA913182346 | MT-CO1 | c.1272T>G (p.Thr424=) | |
| MT | m.7175T= | CA2499565058 | MT-CO1 | c.1272T= (p.Thr424=) | |
| MT | m.7176T>A | CA414791721 | MT-CO1 | c.1273T>A (p.Phe425Ile) | |
| MT | m.7176T>C | CA337097566 | MT-CO1 | c.1273T>C (p.Phe425Leu) | dbSNP |
| MT | m.7176T>G | CA414791725 | MT-CO1 | c.1273T>G (p.Phe425Val) | |
| MT | m.7176T= | CA2499565059 | MT-CO1 | c.1273T= (p.Phe425=) | |
| MT | m.7177T>A | CA414791728 | MT-CO1 | c.1274T>A (p.Phe425Tyr) | |
| MT | m.7177T>C | CA414791734 | MT-CO1 | c.1274T>C (p.Phe425Ser) | |
| MT | m.7177T>G | CA414791730 | MT-CO1 | c.1274T>G (p.Phe425Cys) | |
| MT | m.7177T= | CA2573326844 | MT-CO1 | c.1274T= (p.Phe425=) | |
| MT | m.7178C>A | CA414791735 | MT-CO1 | c.1275C>A (p.Phe425Leu) | |
| MT | m.7178C= | CA2573326847 | MT-CO1 | c.1275C= (p.Phe425=) | |
| MT | m.7178C>G | CA414791738 | MT-CO1 | c.1275C>G (p.Phe425Leu) | |
| MT | m.7178C>T | CA913182348 | MT-CO1 | c.1275C>T (p.Phe425=) | |
| MT | m.7179T>A | CA414791740 | MT-CO1 | c.1276T>A (p.Phe426Ile) | |
| MT | m.7179T>C | CA414791742 | MT-CO1 | c.1276T>C (p.Phe426Leu) | |
| MT | m.7179T>G | CA414791745 | MT-CO1 | c.1276T>G (p.Phe426Val) | |
| MT | m.7179T= | CA2573326849 | MT-CO1 | c.1276T= (p.Phe426=) | |
| MT | m.7180T>A | CA414791748 | MT-CO1 | c.1277T>A (p.Phe426Tyr) | |
| MT | m.7180T>C | CA414791750 | MT-CO1 | c.1277T>C (p.Phe426Ser) | |
| MT | m.7180T>G | CA414791754 | MT-CO1 | c.1277T>G (p.Phe426Cys) | |
| MT | m.7180T= | CA2513214925 | MT-CO1 | c.1277T= (p.Phe426=) | |
| MT | m.7181C>A | CA414791757 | MT-CO1 | c.1278C>A (p.Phe426Leu) | |
| MT | m.7181C= | CA2499565060 | MT-CO1 | c.1278C= (p.Phe426=) | |
| MT | m.7181C>G | CA414791759 | MT-CO1 | c.1278C>G (p.Phe426Leu) | |
| MT | m.7181C>T | CA913182351 | MT-CO1 | c.1278C>T (p.Phe426=) | dbSNP |
| MT | m.7182C>A | CA414791761 | MT-CO1 | c.1279C>A (p.Pro427Thr) | |
| MT | m.7182C= | CA2573326856 | MT-CO1 | c.1279C= (p.Pro427=) | |
| MT | m.7182C>G | CA414791767 | MT-CO1 | c.1279C>G (p.Pro427Ala) | |
| MT | m.7182C>T | CA414791764 | MT-CO1 | c.1279C>T (p.Pro427Ser) | |
| MT | m.7183C>A | CA414791770 | MT-CO1 | c.1280C>A (p.Pro427Gln) | |
| MT | m.7183C= | CA2573326858 | MT-CO1 | c.1280C= (p.Pro427=) | |
| MT | m.7183C>G | CA414791771 | MT-CO1 | c.1280C>G (p.Pro427Arg) | |
| MT | m.7183C>T | CA414791774 | MT-CO1 | c.1280C>T (p.Pro427Leu) | |
| MT | m.7184A= | CA2499565061 | MT-CO1 | c.1281A= (p.Pro427=) | |
| MT | m.7184A>C | CA913182352 | MT-CO1 | c.1281A>C (p.Pro427=) | dbSNP |
| MT | m.7184A>G | CA337097567 | MT-CO1 | c.1281A>G (p.Pro427=) | dbSNP |
| MT | m.7184A>T | CA913182353 | MT-CO1 | c.1281A>T (p.Pro427=) | |
| MT | m.7185C>A | CA414791780 | MT-CO1 | c.1282C>A (p.Gln428Lys) | |
| MT | m.7185C= | CA2573326863 | MT-CO1 | c.1282C= (p.Gln428=) | |
| MT | m.7185C>G | CA414791782 | MT-CO1 | c.1282C>G (p.Gln428Glu) | |
| MT | m.7185C>T | CA414791785 | MT-CO1 | c.1282C>T (p.Gln428Ter) | |
| MT | m.7186A= | CA2573326865 | MT-CO1 | c.1283A= (p.Gln428=) | |
| MT | m.7186A>C | CA414791788 | MT-CO1 | c.1283A>C (p.Gln428Pro) | |
| MT | m.7186A>G | CA414791791 | MT-CO1 | c.1283A>G (p.Gln428Arg) | |
| MT | m.7186A>T | CA414791794 | MT-CO1 | c.1283A>T (p.Gln428Leu) | |
| MT | m.7187A= | CA2499565062 | MT-CO1 | c.1284A= (p.Gln428=) | |
| MT | m.7187A>C | CA414791800 | MT-CO1 | c.1284A>C (p.Gln428His) | |
| MT | m.7187A>G | CA913182354 | MT-CO1 | c.1284A>G (p.Gln428=) | |
| MT | m.7187A>T | CA414791797 | MT-CO1 | c.1284A>T (p.Gln428His) | ClinVar dbSNP |
| MT | m.7188C>A | CA414791803 | MT-CO1 | c.1285C>A (p.His429Asn) | |
| MT | m.7188C= | CA2499565063 | MT-CO1 | c.1285C= (p.His429=) | |
| MT | m.7188C>G | CA414791806 | MT-CO1 | c.1285C>G (p.His429Asp) | |
| MT | m.7188C>T | CA414791809 | MT-CO1 | c.1285C>T (p.His429Tyr) | dbSNP |
| MT | m.7189A= | CA2573326871 | MT-CO1 | c.1286A= (p.His429=) | |
| MT | m.7189A>C | CA414791813 | MT-CO1 | c.1286A>C (p.His429Pro) | |
| MT | m.7189A>G | CA414791816 | MT-CO1 | c.1286A>G (p.His429Arg) | |
| MT | m.7189A>T | CA414791819 | MT-CO1 | c.1286A>T (p.His429Leu) | |
| MT | m.7190C>A | CA414791821 | MT-CO1 | c.1287C>A (p.His429Gln) | |
| MT | m.7190C= | CA2573326873 | MT-CO1 | c.1287C= (p.His429=) | |
| MT | m.7190C>G | CA414791824 | MT-CO1 | c.1287C>G (p.His429Gln) | |
| MT | m.7190C>T | CA913182356 | MT-CO1 | c.1287C>T (p.His429=) | |
| MT | m.7191T>A | CA414791826 | MT-CO1 | c.1288T>A (p.Phe430Ile) | |
| MT | m.7191T>C | CA414791827 | MT-CO1 | c.1288T>C (p.Phe430Leu) | ClinVar dbSNP |
| MT | m.7191T>G | CA414791829 | MT-CO1 | c.1288T>G (p.Phe430Val) | |
| MT | m.7191T= | CA2499565064 | MT-CO1 | c.1288T= (p.Phe430=) | |
| MT | m.7192T>A | CA414791832 | MT-CO1 | c.1289T>A (p.Phe430Tyr) | |
| MT | m.7192T>C | CA414791834 | MT-CO1 | c.1289T>C (p.Phe430Ser) | dbSNP |
| MT | m.7192T>G | CA414791831 | MT-CO1 | c.1289T>G (p.Phe430Cys) | |
| MT | m.7192T= | CA2499565065 | MT-CO1 | c.1289T= (p.Phe430=) | |
| MT | m.7193T>A | CA414791836 | MT-CO1 | c.1290T>A (p.Phe430Leu) | |
| MT | m.7193T>C | CA913182357 | MT-CO1 | c.1290T>C (p.Phe430=) | dbSNP |
| MT | m.7193T>G | CA414791837 | MT-CO1 | c.1290T>G (p.Phe430Leu) | |
| MT | m.7193T= | CA2499565066 | MT-CO1 | c.1290T= (p.Phe430=) | |
| MT | m.7194C>A | CA414791839 | MT-CO1 | c.1291C>A (p.Leu431Ile) | |
| MT | m.7194C= | CA2573326881 | MT-CO1 | c.1291C= (p.Leu431=) | |
| MT | m.7194C>G | CA414791841 | MT-CO1 | c.1291C>G (p.Leu431Val) | |
| MT | m.7194C>T | CA414791843 | MT-CO1 | c.1291C>T (p.Leu431Phe) | |
| MT | m.7195T>A | CA414791845 | MT-CO1 | c.1292T>A (p.Leu431His) | |
| MT | m.7195T>C | CA414791847 | MT-CO1 | c.1292T>C (p.Leu431Pro) | |
| MT | m.7195T>G | CA414791848 | MT-CO1 | c.1292T>G (p.Leu431Arg) | |
| MT | m.7195T= | CA2573326883 | MT-CO1 | c.1292T= (p.Leu431=) | |
| MT | m.7196C>A | CA337097569 | MT-CO1 | c.1293C>A (p.Leu431=) | ClinVar dbSNP |
| MT | m.7196C= | CA2499565067 | MT-CO1 | c.1293C= (p.Leu431=) | |
| MT | m.7196C>G | CA913182358 | MT-CO1 | c.1293C>G (p.Leu431=) | |
| MT | m.7196C>T | CA913182359 | MT-CO1 | c.1293C>T (p.Leu431=) | dbSNP |
| MT | m.7197G>A | CA414791853 | MT-CO1 | c.1294G>A (p.Gly432Ser) | |
| MT | m.7197G>C | CA414791855 | MT-CO1 | c.1294G>C (p.Gly432Arg) | |
| MT | m.7197G= | CA2573326888 | MT-CO1 | c.1294G= (p.Gly432=) | |
| MT | m.7197G>T | CA414791857 | MT-CO1 | c.1294G>T (p.Gly432Cys) | |
| MT | m.7198G>A | CA414791863 | MT-CO1 | c.1295G>A (p.Gly432Asp) | |
| MT | m.7198G>C | CA414791860 | MT-CO1 | c.1295G>C (p.Gly432Ala) | |
| MT | m.7198G= | CA2573326889 | MT-CO1 | c.1295G= (p.Gly432=) | |
| MT | m.7198G>T | CA414791861 | MT-CO1 | c.1295G>T (p.Gly432Val) | |
| MT | m.7199C>A | CA913182360 | MT-CO1 | c.1296C>A (p.Gly432=) | |
| MT | m.7199C= | CA2573326891 | MT-CO1 | c.1296C= (p.Gly432=) | |
| MT | m.7199C>G | CA913182362 | MT-CO1 | c.1296C>G (p.Gly432=) | |
| MT | m.7199C>T | CA913182361 | MT-CO1 | c.1296C>T (p.Gly432=) | |
| MT | m.7200C>A | CA414791866 | MT-CO1 | c.1297C>A (p.Leu433Ile) | |
| MT | m.7200C= | CA2573326895 | MT-CO1 | c.1297C= (p.Leu433=) | |
| MT | m.7200C>G | CA414791867 | MT-CO1 | c.1297C>G (p.Leu433Val) | |
| MT | m.7200C>T | CA913182363 | MT-CO1 | c.1297C>T (p.Leu433=) | dbSNP |
| MT | m.7201T>A | CA414791869 | MT-CO1 | c.1298T>A (p.Leu433Gln) | |
| MT | m.7201T>C | CA414791871 | MT-CO1 | c.1298T>C (p.Leu433Pro) | |
| MT | m.7201T>G | CA414791873 | MT-CO1 | c.1298T>G (p.Leu433Arg) | |
| MT | m.7201T= | CA2573326897 | MT-CO1 | c.1298T= (p.Leu433=) | |
| MT | m.7202A= | CA2499565068 | MT-CO1 | c.1299A= (p.Leu433=) | |
| MT | m.7202A>C | CA913182365 | MT-CO1 | c.1299A>C (p.Leu433=) | |
| MT | m.7202A>G | CA337097571 | MT-CO1 | c.1299A>G (p.Leu433=) | dbSNP |
| MT | m.7202A>T | CA913182366 | MT-CO1 | c.1299A>T (p.Leu433=) | |
| MT | m.7203T>A | CA414791876 | MT-CO1 | c.1300T>A (p.Ser434Thr) | |
| MT | m.7203T>C | CA414791878 | MT-CO1 | c.1300T>C (p.Ser434Pro) | |
| MT | m.7203T>G | CA414791879 | MT-CO1 | c.1300T>G (p.Ser434Ala) | |
| MT | m.7203T= | CA2573326901 | MT-CO1 | c.1300T= (p.Ser434=) | |
| MT | m.7204C>A | CA414791881 | MT-CO1 | c.1301C>A (p.Ser434Tyr) | |
| MT | m.7204C= | CA2573326903 | MT-CO1 | c.1301C= (p.Ser434=) | |
| MT | m.7204C>G | CA414791883 | MT-CO1 | c.1301C>G (p.Ser434Cys) | |
| MT | m.7204C>T | CA414791885 | MT-CO1 | c.1301C>T (p.Ser434Phe) | |
| MT | m.7205C>A | CA913182371 | MT-CO1 | c.1302C>A (p.Ser434=) | |
| MT | m.7205C= | CA2573326905 | MT-CO1 | c.1302C= (p.Ser434=) | |
| MT | m.7205C>G | CA913182372 | MT-CO1 | c.1302C>G (p.Ser434=) | |
| MT | m.7205C>T | CA913182373 | MT-CO1 | c.1302C>T (p.Ser434=) | |
| MT | m.7206G>A | CA414791887 | MT-CO1 | c.1303G>A (p.Gly435Arg) | |
| MT | m.7206G>C | CA414791891 | MT-CO1 | c.1303G>C (p.Gly435Arg) | |
| MT | m.7206G= | CA2573326907 | MT-CO1 | c.1303G= (p.Gly435=) | |
| MT | m.7206G>T | CA414791889 | MT-CO1 | c.1303G>T (p.Gly435Ter) | |
| MT | m.7207G>A | CA414791893 | MT-CO1 | c.1304G>A (p.Gly435Glu) | COSMIC COSMIC |
| MT | m.7207G>C | CA414791895 | MT-CO1 | c.1304G>C (p.Gly435Ala) | |
| MT | m.7207G= | CA2573326910 | MT-CO1 | c.1304G= (p.Gly435=) | |
| MT | m.7207G>T | CA414791897 | MT-CO1 | c.1304G>T (p.Gly435Val) | |
| MT | m.7208A= | CA2573326912 | MT-CO1 | c.1305A= (p.Gly435=) | |
| MT | m.7208A>C | CA913182376 | MT-CO1 | c.1305A>C (p.Gly435=) | |
| MT | m.7208A>G | CA913182377 | MT-CO1 | c.1305A>G (p.Gly435=) | |
| MT | m.7208A>T | CA913182378 | MT-CO1 | c.1305A>T (p.Gly435=) | |
| MT | m.7209A= | CA2499565069 | MT-CO1 | c.1306A= (p.Met436=) | |
| MT | m.7209A>C | CA414791899 | MT-CO1 | c.1306A>C (p.Met436Leu) | |
| MT | m.7209A>G | CA414791901 | MT-CO1 | c.1306A>G (p.Met436Val) | dbSNP |
| MT | m.7209A>T | CA414791903 | MT-CO1 | c.1306A>T (p.Met436Leu) | |
| MT | m.7210T>A | CA414791905 | MT-CO1 | c.1307T>A (p.Met436Lys) | |
| MT | m.7210T>C | CA414791907 | MT-CO1 | c.1307T>C (p.Met436Thr) | |
| MT | m.7210T>G | CA414791908 | MT-CO1 | c.1307T>G (p.Met436Arg) | |
| MT | m.7210T= | CA2573326917 | MT-CO1 | c.1307T= (p.Met436=) | |
| MT | m.7211G>A | CA414791911 | MT-CO1 | c.1308G>A (p.Met436Ile) | dbSNP |
| MT | m.7211G>C | CA414791913 | MT-CO1 | c.1308G>C (p.Met436Ile) | |
| MT | m.7211G= | CA2499565070 | MT-CO1 | c.1308G= (p.Met436=) | |
| MT | m.7211G>T | CA414791914 | MT-CO1 | c.1308G>T (p.Met436Ile) | |
| MT | m.7212C>A | CA414791920 | MT-CO1 | c.1309C>A (p.Pro437Thr) | |
| MT | m.7212C= | CA2573326921 | MT-CO1 | c.1309C= (p.Pro437=) | |
| MT | m.7212C>G | CA414791917 | MT-CO1 | c.1309C>G (p.Pro437Ala) | |
| MT | m.7212C>T | CA414791919 | MT-CO1 | c.1309C>T (p.Pro437Ser) | |
| MT | m.7213C>A | CA414791923 | MT-CO1 | c.1310C>A (p.Pro437His) | |
| MT | m.7213C= | CA2573326922 | MT-CO1 | c.1310C= (p.Pro437=) | |
| MT | m.7213C>G | CA414791924 | MT-CO1 | c.1310C>G (p.Pro437Arg) | |
| MT | m.7213C>T | CA414791925 | MT-CO1 | c.1310C>T (p.Pro437Leu) | |
| MT | m.7214C>A | CA913182382 | MT-CO1 | c.1311C>A (p.Pro437=) | |
| MT | m.7214C= | CA2499565071 | MT-CO1 | c.1311C= (p.Pro437=) | |
| MT | m.7214C>G | CA913182383 | MT-CO1 | c.1311C>G (p.Pro437=) | |
| MT | m.7214C>T | CA913182384 | MT-CO1 | c.1311C>T (p.Pro437=) | dbSNP |
| MT | m.7215C>A | CA913182385 | MT-CO1 | c.1312C>A (p.Arg438=) | |
| MT | m.7215C= | CA2573326925 | MT-CO1 | c.1312C= (p.Arg438=) | |
| MT | m.7215C>G | CA414791927 | MT-CO1 | c.1312C>G (p.Arg438Gly) | |
| MT | m.7215C>T | CA414791929 | MT-CO1 | c.1312C>T (p.Arg438Ter) | |
| MT | m.7216G>A | CA414791931 | MT-CO1 | c.1313G>A (p.Arg438Gln) | COSMIC COSMIC |
| MT | m.7216G>C | CA414791933 | MT-CO1 | c.1313G>C (p.Arg438Pro) | |
| MT | m.7216G= | CA2573326928 | MT-CO1 | c.1313G= (p.Arg438=) | |
| MT | m.7216G>T | CA414791935 | MT-CO1 | c.1313G>T (p.Arg438Leu) | |
| MT | m.7217A= | CA2573326930 | MT-CO1 | c.1314A= (p.Arg438=) | |
| MT | m.7217A>C | CA913182388 | MT-CO1 | c.1314A>C (p.Arg438=) | |
| MT | m.7217A>G | CA913182389 | MT-CO1 | c.1314A>G (p.Arg438=) | |
| MT | m.7217A>T | CA913182390 | MT-CO1 | c.1314A>T (p.Arg438=) | |
| MT | m.7218C>A | CA414791937 | MT-CO1 | c.1315C>A (p.Arg439Ser) | |
| MT | m.7218C= | CA2573326935 | MT-CO1 | c.1315C= (p.Arg439=) | |
| MT | m.7218C>G | CA414791939 | MT-CO1 | c.1315C>G (p.Arg439Gly) | |
| MT | m.7218C>T | CA414791941 | MT-CO1 | c.1315C>T (p.Arg439Cys) | |
| MT | m.7219G>A | CA414791947 | MT-CO1 | c.1316G>A (p.Arg439His) | |
| MT | m.7219G>C | CA414791945 | MT-CO1 | c.1316G>C (p.Arg439Pro) | |
| MT | m.7219G= | CA2573326937 | MT-CO1 | c.1316G= (p.Arg439=) | |
| MT | m.7219G>T | CA414791943 | MT-CO1 | c.1316G>T (p.Arg439Leu) | |
| MT | m.7220T>A | CA913182393 | MT-CO1 | c.1317T>A (p.Arg439=) | |
| MT | m.7220T>C | CA645608459 | MT-CO1 | c.1317T>C (p.Arg439=) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.7220T>G | CA913182392 | MT-CO1 | c.1317T>G (p.Arg439=) | |
| MT | m.7220T= | CA2499565072 | MT-CO1 | c.1317T= (p.Arg439=) | |
| MT | m.7221T>A | CA414791951 | MT-CO1 | c.1318T>A (p.Tyr440Asn) | |
| MT | m.7221T>C | CA414791949 | MT-CO1 | c.1318T>C (p.Tyr440His) | |
| MT | m.7221T>G | CA414791953 | MT-CO1 | c.1318T>G (p.Tyr440Asp) | |
| MT | m.7221T= | CA2573326942 | MT-CO1 | c.1318T= (p.Tyr440=) | |
| MT | m.7222A= | CA2499565073 | MT-CO1 | c.1319A= (p.Tyr440=) | |
| MT | m.7222A>C | CA414791955 | MT-CO1 | c.1319A>C (p.Tyr440Ser) | |
| MT | m.7222A>G | CA414791958 | MT-CO1 | c.1319A>G (p.Tyr440Cys) | ClinVar dbSNP |
| MT | m.7222A>T | CA414791957 | MT-CO1 | c.1319A>T (p.Tyr440Phe) | |
| MT | m.7223C>A | CA414791960 | MT-CO1 | c.1320C>A (p.Tyr440Ter) | |
| MT | m.7223C= | CA2573326946 | MT-CO1 | c.1320C= (p.Tyr440=) | |
| MT | m.7223C>G | CA414791962 | MT-CO1 | c.1320C>G (p.Tyr440Ter) | |
| MT | m.7223C>T | CA913182396 | MT-CO1 | c.1320C>T (p.Tyr440=) | |
| MT | m.7224T>A | CA414791964 | MT-CO1 | c.1321T>A (p.Ser441Thr) | |
| MT | m.7224T>C | CA414791965 | MT-CO1 | c.1321T>C (p.Ser441Pro) | |
| MT | m.7224T>G | CA414791967 | MT-CO1 | c.1321T>G (p.Ser441Ala) | |
| MT | m.7224T= | CA2573326948 | MT-CO1 | c.1321T= (p.Ser441=) | |
| MT | m.7225C>A | CA414791970 | MT-CO1 | c.1322C>A (p.Ser441Ter) | |
| MT | m.7225C= | CA2573326949 | MT-CO1 | c.1322C= (p.Ser441=) | |
| MT | m.7225C>G | CA414791971 | MT-CO1 | c.1322C>G (p.Ser441Trp) | |
| MT | m.7225C>T | CA414791972 | MT-CO1 | c.1322C>T (p.Ser441Leu) | |
| MT | m.7226G>A | CA337097573 | MT-CO1 | c.1323G>A (p.Ser441=) | dbSNP |
| MT | m.7226G>C | CA913182399 | MT-CO1 | c.1323G>C (p.Ser441=) | |
| MT | m.7226G= | CA2499565074 | MT-CO1 | c.1323G= (p.Ser441=) | |
| MT | m.7226G>T | CA913182401 | MT-CO1 | c.1323G>T (p.Ser441=) | |
| MT | m.7227G>A | CA414791980 | MT-CO1 | c.1324G>A (p.Asp442Asn) | |
| MT | m.7227G>C | CA414791978 | MT-CO1 | c.1324G>C (p.Asp442His) | |
| MT | m.7227G= | CA2573326953 | MT-CO1 | c.1324G= (p.Asp442=) | |
| MT | m.7227G>T | CA414791976 | MT-CO1 | c.1324G>T (p.Asp442Tyr) | |
| MT | m.7228A= | CA2573326956 | MT-CO1 | c.1325A= (p.Asp442=) | |
| MT | m.7228A>C | CA414791982 | MT-CO1 | c.1325A>C (p.Asp442Ala) | |
| MT | m.7228A>G | CA414791983 | MT-CO1 | c.1325A>G (p.Asp442Gly) | |
| MT | m.7228A>T | CA414791985 | MT-CO1 | c.1325A>T (p.Asp442Val) | |
| MT | m.7229C>A | CA414791987 | MT-CO1 | c.1326C>A (p.Asp442Glu) | |
| MT | m.7229C= | CA2499565075 | MT-CO1 | c.1326C= (p.Asp442=) | |
| MT | m.7229C>G | CA414791989 | MT-CO1 | c.1326C>G (p.Asp442Glu) | |
| MT | m.7229C>T | CA913182402 | MT-CO1 | c.1326C>T (p.Asp442=) | dbSNP |
| MT | m.7230T>A | CA414791990 | MT-CO1 | c.1327T>A (p.Tyr443Asn) | |
| MT | m.7230T>C | CA414791992 | MT-CO1 | c.1327T>C (p.Tyr443His) | |
| MT | m.7230T>G | CA414791994 | MT-CO1 | c.1327T>G (p.Tyr443Asp) | |
| MT | m.7230T= | CA2573326960 | MT-CO1 | c.1327T= (p.Tyr443=) | |
| MT | m.7231A= | CA2573326966 | MT-CO1 | c.1328A= (p.Tyr443=) | |
| MT | m.7231A>C | CA414791996 | MT-CO1 | c.1328A>C (p.Tyr443Ser) | |
| MT | m.7231A>G | CA414791997 | MT-CO1 | c.1328A>G (p.Tyr443Cys) | |
| MT | m.7231A>T | CA414791999 | MT-CO1 | c.1328A>T (p.Tyr443Phe) | |
| MT | m.7232C>A | CA414792003 | MT-CO1 | c.1329C>A (p.Tyr443Ter) | |
| MT | m.7232C= | CA2573326969 | MT-CO1 | c.1329C= (p.Tyr443=) | |
| MT | m.7232C>G | CA414792002 | MT-CO1 | c.1329C>G (p.Tyr443Ter) | |
| MT | m.7232C>T | CA913182403 | MT-CO1 | c.1329C>T (p.Tyr443=) | |
| MT | m.7233C>A | CA414792005 | MT-CO1 | c.1330C>A (p.Pro444Thr) | |
| MT | m.7233C= | CA2499565076 | MT-CO1 | c.1330C= (p.Pro444=) | |
| MT | m.7233C>G | CA414792007 | MT-CO1 | c.1330C>G (p.Pro444Ala) | |
| MT | m.7233C>T | CA414792009 | MT-CO1 | c.1330C>T (p.Pro444Ser) | ClinVar dbSNP |
| MT | m.7234C>A | CA414792011 | MT-CO1 | c.1331C>A (p.Pro444His) | |
| MT | m.7234C= | CA2573326972 | MT-CO1 | c.1331C= (p.Pro444=) | |
| MT | m.7234C>G | CA414792013 | MT-CO1 | c.1331C>G (p.Pro444Arg) | |
| MT | m.7234C>T | CA414792014 | MT-CO1 | c.1331C>T (p.Pro444Leu) | |
| MT | m.7235C>A | CA913182409 | MT-CO1 | c.1332C>A (p.Pro444=) | dbSNP |
| MT | m.7235C= | CA2499565077 | MT-CO1 | c.1332C= (p.Pro444=) | |
| MT | m.7235C>G | CA913182408 | MT-CO1 | c.1332C>G (p.Pro444=) | |
| MT | m.7235C>T | CA913182407 | MT-CO1 | c.1332C>T (p.Pro444=) | dbSNP |
| MT | m.7236G>A | CA414792016 | MT-CO1 | c.1333G>A (p.Asp445Asn) | dbSNP |
| MT | m.7236G>C | CA414792018 | MT-CO1 | c.1333G>C (p.Asp445His) | |
| MT | m.7236G= | CA2499565078 | MT-CO1 | c.1333G= (p.Asp445=) | |
| MT | m.7236G>T | CA414792020 | MT-CO1 | c.1333G>T (p.Asp445Tyr) |