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 |
|---|---|---|---|---|---|
| 5 | g.13691984T>A | CA359188477 | DNAH5 | n.1208A>T c.13875A>T (p.Ter4625Tyr) c.13830A>T (p.Ter4610Tyr) c.13983A>T (p.Ter4661Tyr) c.13563A>T (p.Ter4521Tyr) c.12888A>T (p.Ter4296Tyr) c.9072A>T (p.Ter3024Tyr) c.8625A>T (p.Ter2875Tyr) c.7962A>T (p.Ter2654Tyr) c.12477A>T (p.Ter4159Tyr) | |
| 5 | g.13691984T>C | CA443248578 | DNAH5 | n.1208A>G c.13875A>G (p.Ter4625=) c.13830A>G (p.Ter4610=) c.13983A>G (p.Ter4661=) c.13563A>G (p.Ter4521=) c.12888A>G (p.Ter4296=) c.9072A>G (p.Ter3024=) c.8625A>G (p.Ter2875=) c.7962A>G (p.Ter2654=) c.12477A>G (p.Ter4159=) | |
| 5 | g.13691984T>G | CA113905432 | DNAH5 | n.1208A>C c.13875A>C (p.Ter4625Tyr) c.13830A>C (p.Ter4610Tyr) c.13983A>C (p.Ter4661Tyr) c.13563A>C (p.Ter4521Tyr) c.12888A>C (p.Ter4296Tyr) c.9072A>C (p.Ter3024Tyr) c.8625A>C (p.Ter2875Tyr) c.7962A>C (p.Ter2654Tyr) c.12477A>C (p.Ter4159Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13691984T= | CA1528395833 | DNAH5 | n.1208A= c.13875A= (p.Ter4625=) c.13830A= (p.Ter4610=) c.13983A= (p.Ter4661=) c.13563A= (p.Ter4521=) c.12888A= (p.Ter4296=) c.9072A= (p.Ter3024=) c.8625A= (p.Ter2875=) c.7962A= (p.Ter2654=) c.12477A= (p.Ter4159=) | |
| 5 | g.13691985T>A | CA359188478 | DNAH5 | n.1207A>T c.13874A>T (p.Ter4625Leu) c.13829A>T (p.Ter4610Leu) c.13982A>T (p.Ter4661Leu) c.13562A>T (p.Ter4521Leu) c.12887A>T (p.Ter4296Leu) c.9071A>T (p.Ter3024Leu) c.8624A>T (p.Ter2875Leu) c.7961A>T (p.Ter2654Leu) c.12476A>T (p.Ter4159Leu) | |
| 5 | g.13691985T>C | CA443248582 | DNAH5 | n.1207A>G c.13874A>G (p.Ter4625=) c.13829A>G (p.Ter4610=) c.13982A>G (p.Ter4661=) c.13562A>G (p.Ter4521=) c.12887A>G (p.Ter4296=) c.9071A>G (p.Ter3024=) c.8624A>G (p.Ter2875=) c.7961A>G (p.Ter2654=) c.12476A>G (p.Ter4159=) | |
| 5 | g.13691985T>G | CA359188479 | DNAH5 | n.1207A>C c.13874A>C (p.Ter4625Ser) c.13829A>C (p.Ter4610Ser) c.13982A>C (p.Ter4661Ser) c.13562A>C (p.Ter4521Ser) c.12887A>C (p.Ter4296Ser) c.9071A>C (p.Ter3024Ser) c.8624A>C (p.Ter2875Ser) c.7961A>C (p.Ter2654Ser) c.12476A>C (p.Ter4159Ser) | |
| 5 | g.13691986A= | CA1528395834 | DNAH5 | n.1206T= c.13873T= (p.Ter4625=) c.13828T= (p.Ter4610=) c.13981T= (p.Ter4661=) c.13561T= (p.Ter4521=) c.12886T= (p.Ter4296=) c.9070T= (p.Ter3024=) c.8623T= (p.Ter2875=) c.7960T= (p.Ter2654=) c.12475T= (p.Ter4159=) | |
| 5 | g.13691986A>C | CA113905435 | DNAH5 | n.1206T>G c.13873T>G (p.Ter4625Glu) c.13828T>G (p.Ter4610Glu) c.13981T>G (p.Ter4661Glu) c.13561T>G (p.Ter4521Glu) c.12886T>G (p.Ter4296Glu) c.9070T>G (p.Ter3024Glu) c.8623T>G (p.Ter2875Glu) c.7960T>G (p.Ter2654Glu) c.12475T>G (p.Ter4159Glu) | dbSNP gnomAD v4 COSMIC |
| 5 | g.13691986A>G | CA359188480 | DNAH5 | n.1206T>C c.13873T>C (p.Ter4625Gln) c.13828T>C (p.Ter4610Gln) c.13981T>C (p.Ter4661Gln) c.13561T>C (p.Ter4521Gln) c.12886T>C (p.Ter4296Gln) c.9070T>C (p.Ter3024Gln) c.8623T>C (p.Ter2875Gln) c.7960T>C (p.Ter2654Gln) c.12475T>C (p.Ter4159Gln) | gnomAD v4 |
| 5 | g.13691986A>T | CA359188481 | DNAH5 | n.1206T>A c.13873T>A (p.Ter4625Lys) c.13828T>A (p.Ter4610Lys) c.13981T>A (p.Ter4661Lys) c.13561T>A (p.Ter4521Lys) c.12886T>A (p.Ter4296Lys) c.9070T>A (p.Ter3024Lys) c.8623T>A (p.Ter2875Lys) c.7960T>A (p.Ter2654Lys) c.12475T>A (p.Ter4159Lys) | |
| 5 | g.13691987C>A | CA359188482 | DNAH5 | n.1205G>T c.13872G>T (p.Lys4624Asn) c.13827G>T (p.Lys4609Asn) c.13980G>T (p.Lys4660Asn) c.13560G>T (p.Lys4520Asn) c.12885G>T (p.Lys4295Asn) c.9069G>T (p.Lys3023Asn) c.8622G>T (p.Lys2874Asn) c.7959G>T (p.Lys2653Asn) c.12474G>T (p.Lys4158Asn) | |
| 5 | g.13691987C>G | CA359188483 | DNAH5 | n.1205G>C c.13872G>C (p.Lys4624Asn) c.13827G>C (p.Lys4609Asn) c.13980G>C (p.Lys4660Asn) c.13560G>C (p.Lys4520Asn) c.12885G>C (p.Lys4295Asn) c.9069G>C (p.Lys3023Asn) c.8622G>C (p.Lys2874Asn) c.7959G>C (p.Lys2653Asn) c.12474G>C (p.Lys4158Asn) | |
| 5 | g.13691987C>T | CA443248583 | DNAH5 | n.1205G>A c.13872G>A (p.Lys4624=) c.13827G>A (p.Lys4609=) c.13980G>A (p.Lys4660=) c.13560G>A (p.Lys4520=) c.12885G>A (p.Lys4295=) c.9069G>A (p.Lys3023=) c.8622G>A (p.Lys2874=) c.7959G>A (p.Lys2653=) c.12474G>A (p.Lys4158=) | |
| 5 | g.13691988T>A | CA359188484 | DNAH5 | n.1204A>T c.13871A>T (p.Lys4624Met) c.13826A>T (p.Lys4609Met) c.13979A>T (p.Lys4660Met) c.13559A>T (p.Lys4520Met) c.12884A>T (p.Lys4295Met) c.9068A>T (p.Lys3023Met) c.8621A>T (p.Lys2874Met) c.7958A>T (p.Lys2653Met) c.12473A>T (p.Lys4158Met) | |
| 5 | g.13691988T>C | CA3201228 | DNAH5 | n.1204A>G c.13871A>G (p.Lys4624Arg) c.13826A>G (p.Lys4609Arg) c.13979A>G (p.Lys4660Arg) c.13559A>G (p.Lys4520Arg) c.12884A>G (p.Lys4295Arg) c.9068A>G (p.Lys3023Arg) c.8621A>G (p.Lys2874Arg) c.7958A>G (p.Lys2653Arg) c.12473A>G (p.Lys4158Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13691988T>G | CA359188485 | DNAH5 | n.1204A>C c.13871A>C (p.Lys4624Thr) c.13826A>C (p.Lys4609Thr) c.13979A>C (p.Lys4660Thr) c.13559A>C (p.Lys4520Thr) c.12884A>C (p.Lys4295Thr) c.9068A>C (p.Lys3023Thr) c.8621A>C (p.Lys2874Thr) c.7958A>C (p.Lys2653Thr) c.12473A>C (p.Lys4158Thr) | |
| 5 | g.13691988T= | CA1528395835 | DNAH5 | n.1204A= c.13871A= (p.Lys4624=) c.13826A= (p.Lys4609=) c.13979A= (p.Lys4660=) c.13559A= (p.Lys4520=) c.12884A= (p.Lys4295=) c.9068A= (p.Lys3023=) c.8621A= (p.Lys2874=) c.7958A= (p.Lys2653=) c.12473A= (p.Lys4158=) | |
| 5 | g.13691989T>A | CA359188486 | DNAH5 | n.1203A>T c.13870A>T (p.Lys4624Ter) c.13825A>T (p.Lys4609Ter) c.13978A>T (p.Lys4660Ter) c.13558A>T (p.Lys4520Ter) c.12883A>T (p.Lys4295Ter) c.9067A>T (p.Lys3023Ter) c.8620A>T (p.Lys2874Ter) c.7957A>T (p.Lys2653Ter) c.12472A>T (p.Lys4158Ter) | |
| 5 | g.13691989T>C | CA359188487 | DNAH5 | n.1203A>G c.13870A>G (p.Lys4624Glu) c.13825A>G (p.Lys4609Glu) c.13978A>G (p.Lys4660Glu) c.13558A>G (p.Lys4520Glu) c.12883A>G (p.Lys4295Glu) c.9067A>G (p.Lys3023Glu) c.8620A>G (p.Lys2874Glu) c.7957A>G (p.Lys2653Glu) c.12472A>G (p.Lys4158Glu) | |
| 5 | g.13691989T>G | CA359188488 | DNAH5 | n.1203A>C c.13870A>C (p.Lys4624Gln) c.13825A>C (p.Lys4609Gln) c.13978A>C (p.Lys4660Gln) c.13558A>C (p.Lys4520Gln) c.12883A>C (p.Lys4295Gln) c.9067A>C (p.Lys3023Gln) c.8620A>C (p.Lys2874Gln) c.7957A>C (p.Lys2653Gln) c.12472A>C (p.Lys4158Gln) | |
| 5 | g.13691990G>A | CA443248587 | DNAH5 | n.1202C>T c.13869C>T (p.Val4623=) c.13824C>T (p.Val4608=) c.13977C>T (p.Val4659=) c.13557C>T (p.Val4519=) c.12882C>T (p.Val4294=) c.9066C>T (p.Val3022=) c.8619C>T (p.Val2873=) c.7956C>T (p.Val2652=) c.12471C>T (p.Val4157=) | gnomAD v4 |
| 5 | g.13691990G>C | CA443248588 | DNAH5 | n.1202C>G c.13869C>G (p.Val4623=) c.13824C>G (p.Val4608=) c.13977C>G (p.Val4659=) c.13557C>G (p.Val4519=) c.12882C>G (p.Val4294=) c.9066C>G (p.Val3022=) c.8619C>G (p.Val2873=) c.7956C>G (p.Val2652=) c.12471C>G (p.Val4157=) | ClinVar dbSNP |
| 5 | g.13691990G= | CA1528395836 | DNAH5 | n.1202C= c.13869C= (p.Val4623=) c.13824C= (p.Val4608=) c.13977C= (p.Val4659=) c.13557C= (p.Val4519=) c.12882C= (p.Val4294=) c.9066C= (p.Val3022=) c.8619C= (p.Val2873=) c.7956C= (p.Val2652=) c.12471C= (p.Val4157=) | |
| 5 | g.13691990G>T | CA443248590 | DNAH5 | n.1202C>A c.13869C>A (p.Val4623=) c.13824C>A (p.Val4608=) c.13977C>A (p.Val4659=) c.13557C>A (p.Val4519=) c.12882C>A (p.Val4294=) c.9066C>A (p.Val3022=) c.8619C>A (p.Val2873=) c.7956C>A (p.Val2652=) c.12471C>A (p.Val4157=) | gnomAD v4 |
| 5 | g.13691991A>C | CA359188489 | DNAH5 | n.1201T>G c.13868T>G (p.Val4623Gly) c.13823T>G (p.Val4608Gly) c.13976T>G (p.Val4659Gly) c.13556T>G (p.Val4519Gly) c.12881T>G (p.Val4294Gly) c.9065T>G (p.Val3022Gly) c.8618T>G (p.Val2873Gly) c.7955T>G (p.Val2652Gly) c.12470T>G (p.Val4157Gly) | |
| 5 | g.13691991A>G | CA359188491 | DNAH5 | n.1201T>C c.13868T>C (p.Val4623Ala) c.13823T>C (p.Val4608Ala) c.13976T>C (p.Val4659Ala) c.13556T>C (p.Val4519Ala) c.12881T>C (p.Val4294Ala) c.9065T>C (p.Val3022Ala) c.8618T>C (p.Val2873Ala) c.7955T>C (p.Val2652Ala) c.12470T>C (p.Val4157Ala) | |
| 5 | g.13691991A>T | CA359188490 | DNAH5 | n.1201T>A c.13868T>A (p.Val4623Asp) c.13823T>A (p.Val4608Asp) c.13976T>A (p.Val4659Asp) c.13556T>A (p.Val4519Asp) c.12881T>A (p.Val4294Asp) c.9065T>A (p.Val3022Asp) c.8618T>A (p.Val2873Asp) c.7955T>A (p.Val2652Asp) c.12470T>A (p.Val4157Asp) | |
| 5 | g.13691992C>A | CA359188492 | DNAH5 | n.1200G>T c.13867G>T (p.Val4623Phe) c.13822G>T (p.Val4608Phe) c.13975G>T (p.Val4659Phe) c.13555G>T (p.Val4519Phe) c.12880G>T (p.Val4294Phe) c.9064G>T (p.Val3022Phe) c.8617G>T (p.Val2873Phe) c.7954G>T (p.Val2652Phe) c.12469G>T (p.Val4157Phe) | |
| 5 | g.13691992C>G | CA359188494 | DNAH5 | n.1200G>C c.13867G>C (p.Val4623Leu) c.13822G>C (p.Val4608Leu) c.13975G>C (p.Val4659Leu) c.13555G>C (p.Val4519Leu) c.12880G>C (p.Val4294Leu) c.9064G>C (p.Val3022Leu) c.8617G>C (p.Val2873Leu) c.7954G>C (p.Val2652Leu) c.12469G>C (p.Val4157Leu) | |
| 5 | g.13691992C>T | CA359188493 | DNAH5 | n.1200G>A c.13867G>A (p.Val4623Ile) c.13822G>A (p.Val4608Ile) c.13975G>A (p.Val4659Ile) c.13555G>A (p.Val4519Ile) c.12880G>A (p.Val4294Ile) c.9064G>A (p.Val3022Ile) c.8617G>A (p.Val2873Ile) c.7954G>A (p.Val2652Ile) c.12469G>A (p.Val4157Ile) | |
| 5 | g.13691993A= | CA1528395837 | DNAH5 | n.1199T= c.13866T= (p.Asp4622=) c.13821T= (p.Asp4607=) c.13974T= (p.Asp4658=) c.13554T= (p.Asp4518=) c.12879T= (p.Asp4293=) c.9063T= (p.Asp3021=) c.8616T= (p.Asp2872=) c.7953T= (p.Asp2651=) c.12468T= (p.Asp4156=) | |
| 5 | g.13691993A>C | CA359188495 | DNAH5 | n.1199T>G c.13866T>G (p.Asp4622Glu) c.13821T>G (p.Asp4607Glu) c.13974T>G (p.Asp4658Glu) c.13554T>G (p.Asp4518Glu) c.12879T>G (p.Asp4293Glu) c.9063T>G (p.Asp3021Glu) c.8616T>G (p.Asp2872Glu) c.7953T>G (p.Asp2651Glu) c.12468T>G (p.Asp4156Glu) | |
| 5 | g.13691993A>G | CA443248593 | DNAH5 | n.1199T>C c.13866T>C (p.Asp4622=) c.13821T>C (p.Asp4607=) c.13974T>C (p.Asp4658=) c.13554T>C (p.Asp4518=) c.12879T>C (p.Asp4293=) c.9063T>C (p.Asp3021=) c.8616T>C (p.Asp2872=) c.7953T>C (p.Asp2651=) c.12468T>C (p.Asp4156=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13691993A>T | CA359188496 | DNAH5 | n.1199T>A c.13866T>A (p.Asp4622Glu) c.13821T>A (p.Asp4607Glu) c.13974T>A (p.Asp4658Glu) c.13554T>A (p.Asp4518Glu) c.12879T>A (p.Asp4293Glu) c.9063T>A (p.Asp3021Glu) c.8616T>A (p.Asp2872Glu) c.7953T>A (p.Asp2651Glu) c.12468T>A (p.Asp4156Glu) | |
| 5 | g.13691994T>A | CA359188497 | DNAH5 | n.1198A>T c.13865A>T (p.Asp4622Val) c.13820A>T (p.Asp4607Val) c.13973A>T (p.Asp4658Val) c.13553A>T (p.Asp4518Val) c.12878A>T (p.Asp4293Val) c.9062A>T (p.Asp3021Val) c.8615A>T (p.Asp2872Val) c.7952A>T (p.Asp2651Val) c.12467A>T (p.Asp4156Val) | COSMIC |
| 5 | g.13691994T>C | CA359188498 | DNAH5 | n.1198A>G c.13865A>G (p.Asp4622Gly) c.13820A>G (p.Asp4607Gly) c.13973A>G (p.Asp4658Gly) c.13553A>G (p.Asp4518Gly) c.12878A>G (p.Asp4293Gly) c.9062A>G (p.Asp3021Gly) c.8615A>G (p.Asp2872Gly) c.7952A>G (p.Asp2651Gly) c.12467A>G (p.Asp4156Gly) | |
| 5 | g.13691994T>G | CA359188499 | DNAH5 | n.1198A>C c.13865A>C (p.Asp4622Ala) c.13820A>C (p.Asp4607Ala) c.13973A>C (p.Asp4658Ala) c.13553A>C (p.Asp4518Ala) c.12878A>C (p.Asp4293Ala) c.9062A>C (p.Asp3021Ala) c.8615A>C (p.Asp2872Ala) c.7952A>C (p.Asp2651Ala) c.12467A>C (p.Asp4156Ala) | |
| 5 | g.13691995C>A | CA359188500 | DNAH5 | n.1197G>T c.13864G>T (p.Asp4622Tyr) c.13819G>T (p.Asp4607Tyr) c.13972G>T (p.Asp4658Tyr) c.13552G>T (p.Asp4518Tyr) c.12877G>T (p.Asp4293Tyr) c.9061G>T (p.Asp3021Tyr) c.8614G>T (p.Asp2872Tyr) c.7951G>T (p.Asp2651Tyr) c.12466G>T (p.Asp4156Tyr) | |
| 5 | g.13691995C>G | CA359188501 | DNAH5 | n.1197G>C c.13864G>C (p.Asp4622His) c.13819G>C (p.Asp4607His) c.13972G>C (p.Asp4658His) c.13552G>C (p.Asp4518His) c.12877G>C (p.Asp4293His) c.9061G>C (p.Asp3021His) c.8614G>C (p.Asp2872His) c.7951G>C (p.Asp2651His) c.12466G>C (p.Asp4156His) | |
| 5 | g.13691995C>T | CA359188502 | DNAH5 | n.1197G>A c.13864G>A (p.Asp4622Asn) c.13819G>A (p.Asp4607Asn) c.13972G>A (p.Asp4658Asn) c.13552G>A (p.Asp4518Asn) c.12877G>A (p.Asp4293Asn) c.9061G>A (p.Asp3021Asn) c.8614G>A (p.Asp2872Asn) c.7951G>A (p.Asp2651Asn) c.12466G>A (p.Asp4156Asn) | COSMIC |
| 5 | g.13691996A= | CA1528395838 | DNAH5 | n.1196T= c.13863T= (p.Cys4621=) c.13818T= (p.Cys4606=) c.13971T= (p.Cys4657=) c.13551T= (p.Cys4517=) c.12876T= (p.Cys4292=) c.9060T= (p.Cys3020=) c.8613T= (p.Cys2871=) c.7950T= (p.Cys2650=) c.12465T= (p.Cys4155=) | |
| 5 | g.13691996A>C | CA359188503 | DNAH5 | n.1196T>G c.13863T>G (p.Cys4621Trp) c.13818T>G (p.Cys4606Trp) c.13971T>G (p.Cys4657Trp) c.13551T>G (p.Cys4517Trp) c.12876T>G (p.Cys4292Trp) c.9060T>G (p.Cys3020Trp) c.8613T>G (p.Cys2871Trp) c.7950T>G (p.Cys2650Trp) c.12465T>G (p.Cys4155Trp) | |
| 5 | g.13691996A>G | CA443248597 | DNAH5 | n.1196T>C c.13863T>C (p.Cys4621=) c.13818T>C (p.Cys4606=) c.13971T>C (p.Cys4657=) c.13551T>C (p.Cys4517=) c.12876T>C (p.Cys4292=) c.9060T>C (p.Cys3020=) c.8613T>C (p.Cys2871=) c.7950T>C (p.Cys2650=) c.12465T>C (p.Cys4155=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13691996A>T | CA359188504 | DNAH5 | n.1196T>A c.13863T>A (p.Cys4621Ter) c.13818T>A (p.Cys4606Ter) c.13971T>A (p.Cys4657Ter) c.13551T>A (p.Cys4517Ter) c.12876T>A (p.Cys4292Ter) c.9060T>A (p.Cys3020Ter) c.8613T>A (p.Cys2871Ter) c.7950T>A (p.Cys2650Ter) c.12465T>A (p.Cys4155Ter) | |
| 5 | g.13691997C>A | CA359188507 | DNAH5 | n.1195G>T c.13862G>T (p.Cys4621Phe) c.13817G>T (p.Cys4606Phe) c.13970G>T (p.Cys4657Phe) c.13550G>T (p.Cys4517Phe) c.12875G>T (p.Cys4292Phe) c.9059G>T (p.Cys3020Phe) c.8612G>T (p.Cys2871Phe) c.7949G>T (p.Cys2650Phe) c.12464G>T (p.Cys4155Phe) | |
| 5 | g.13691997C= | CA1528395839 | DNAH5 | n.1195G= c.13862G= (p.Cys4621=) c.13817G= (p.Cys4606=) c.13970G= (p.Cys4657=) c.13550G= (p.Cys4517=) c.12875G= (p.Cys4292=) c.9059G= (p.Cys3020=) c.8612G= (p.Cys2871=) c.7949G= (p.Cys2650=) c.12464G= (p.Cys4155=) | |
| 5 | g.13691997C>G | CA359188506 | DNAH5 | n.1195G>C c.13862G>C (p.Cys4621Ser) c.13817G>C (p.Cys4606Ser) c.13970G>C (p.Cys4657Ser) c.13550G>C (p.Cys4517Ser) c.12875G>C (p.Cys4292Ser) c.9059G>C (p.Cys3020Ser) c.8612G>C (p.Cys2871Ser) c.7949G>C (p.Cys2650Ser) c.12464G>C (p.Cys4155Ser) | ClinVar |
| 5 | g.13691997C>T | CA359188505 | DNAH5 | n.1195G>A c.13862G>A (p.Cys4621Tyr) c.13817G>A (p.Cys4606Tyr) c.13970G>A (p.Cys4657Tyr) c.13550G>A (p.Cys4517Tyr) c.12875G>A (p.Cys4292Tyr) c.9059G>A (p.Cys3020Tyr) c.8612G>A (p.Cys2871Tyr) c.7949G>A (p.Cys2650Tyr) c.12464G>A (p.Cys4155Tyr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13691998A>C | CA359188508 | DNAH5 | n.1194T>G c.13861T>G (p.Cys4621Gly) c.13816T>G (p.Cys4606Gly) c.13969T>G (p.Cys4657Gly) c.13549T>G (p.Cys4517Gly) c.12874T>G (p.Cys4292Gly) c.9058T>G (p.Cys3020Gly) c.8611T>G (p.Cys2871Gly) c.7948T>G (p.Cys2650Gly) c.12463T>G (p.Cys4155Gly) |