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.13025459T>A | CA404315434 | NFIX | c.463T>A (p.Cys155Ser) c.284T>A c.466T>A (p.Cys156Ser) c.490T>A (p.Cys164Ser) c.475T>A (p.Cys159Ser) c.234+91T>A (n.234+91T>A) c.442T>A (p.Cys148Ser) c.*297T>A (n.*297T>A) c.325T>A (p.Cys109Ser) c.514T>A (p.Cys172Ser) c.643T>A (p.Cys215Ser) | |
| 19 | g.13025459T>C | CA404315447 | NFIX | c.463T>C (p.Cys155Arg) c.284T>C c.466T>C (p.Cys156Arg) c.490T>C (p.Cys164Arg) c.475T>C (p.Cys159Arg) c.234+91T>C (n.234+91T>C) c.442T>C (p.Cys148Arg) c.*297T>C (n.*297T>C) c.325T>C (p.Cys109Arg) c.514T>C (p.Cys172Arg) c.643T>C (p.Cys215Arg) | |
| 19 | g.13025459T>G | CA404315453 | NFIX | c.463T>G (p.Cys155Gly) c.284T>G c.466T>G (p.Cys156Gly) c.490T>G (p.Cys164Gly) c.475T>G (p.Cys159Gly) c.234+91T>G (n.234+91T>G) c.442T>G (p.Cys148Gly) c.*297T>G (n.*297T>G) c.325T>G (p.Cys109Gly) c.514T>G (p.Cys172Gly) c.643T>G (p.Cys215Gly) | |
| 19 | g.13025460G>A | CA404315465 | NFIX | c.464G>A (p.Cys155Tyr) c.285G>A c.467G>A (p.Cys156Tyr) c.491G>A (p.Cys164Tyr) c.476G>A (p.Cys159Tyr) c.234+92G>A (n.234+92G>A) c.443G>A (p.Cys148Tyr) c.*298G>A (n.*298G>A) c.326G>A (p.Cys109Tyr) c.515G>A (p.Cys172Tyr) c.644G>A (p.Cys215Tyr) | |
| 19 | g.13025460G>C | CA404315466 | NFIX | c.464G>C (p.Cys155Ser) c.285G>C c.467G>C (p.Cys156Ser) c.491G>C (p.Cys164Ser) c.476G>C (p.Cys159Ser) c.234+92G>C (n.234+92G>C) c.443G>C (p.Cys148Ser) c.*298G>C (n.*298G>C) c.326G>C (p.Cys109Ser) c.515G>C (p.Cys172Ser) c.644G>C (p.Cys215Ser) | ClinVar dbSNP |
| 19 | g.13025460G= | CA2323688946 | NFIX | c.464G= (p.Cys155=) c.285G= c.467G= (p.Cys156=) c.491G= (p.Cys164=) c.476G= (p.Cys159=) c.234+92G= (n.234+92G=) c.443G= (p.Cys148=) c.*298G= (n.*298G=) c.326G= (p.Cys109=) c.515G= (p.Cys172=) c.644G= (p.Cys215=) | |
| 19 | g.13025460G>T | CA404315467 | NFIX | c.464G>T (p.Cys155Phe) c.285G>T c.467G>T (p.Cys156Phe) c.491G>T (p.Cys164Phe) c.476G>T (p.Cys159Phe) c.234+92G>T (n.234+92G>T) c.443G>T (p.Cys148Phe) c.*298G>T (n.*298G>T) c.326G>T (p.Cys109Phe) c.515G>T (p.Cys172Phe) c.644G>T (p.Cys215Phe) | |
| 19 | g.13025461C>A | CA404315481 | NFIX | c.465C>A (p.Cys155Ter) c.286C>A c.468C>A (p.Cys156Ter) c.492C>A (p.Cys164Ter) c.477C>A (p.Cys159Ter) c.234+93C>A (n.234+93C>A) c.444C>A (p.Cys148Ter) c.*299C>A (n.*299C>A) c.327C>A (p.Cys109Ter) c.516C>A (p.Cys172Ter) c.645C>A (p.Cys215Ter) | |
| 19 | g.13025461C= | CA2323688947 | NFIX | c.465C= (p.Cys155=) c.286C= c.468C= (p.Cys156=) c.492C= (p.Cys164=) c.477C= (p.Cys159=) c.234+93C= (n.234+93C=) c.444C= (p.Cys148=) c.*299C= (n.*299C=) c.327C= (p.Cys109=) c.516C= (p.Cys172=) c.645C= (p.Cys215=) | |
| 19 | g.13025461C>G | CA404315476 | NFIX | c.465C>G (p.Cys155Trp) c.286C>G c.468C>G (p.Cys156Trp) c.492C>G (p.Cys164Trp) c.477C>G (p.Cys159Trp) c.234+93C>G (n.234+93C>G) c.444C>G (p.Cys148Trp) c.*299C>G (n.*299C>G) c.327C>G (p.Cys109Trp) c.516C>G (p.Cys172Trp) c.645C>G (p.Cys215Trp) | |
| 19 | g.13025461C>T | CA9236984 | NFIX | c.465C>T (p.Cys155=) c.286C>T c.468C>T (p.Cys156=) c.492C>T (p.Cys164=) c.477C>T (p.Cys159=) c.234+93C>T (n.234+93C>T) c.444C>T (p.Cys148=) c.*299C>T (n.*299C>T) c.327C>T (p.Cys109=) c.516C>T (p.Cys172=) c.645C>T (p.Cys215=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13025462T>A | CA404315482 | NFIX | c.466T>A (p.Ser156Thr) c.287T>A c.469T>A (p.Ser157Thr) c.493T>A (p.Ser165Thr) c.478T>A (p.Ser160Thr) c.234+94T>A (n.234+94T>A) c.445T>A (p.Ser149Thr) c.*300T>A (n.*300T>A) c.328T>A (p.Ser110Thr) c.517T>A (p.Ser173Thr) c.646T>A (p.Ser216Thr) | |
| 19 | g.13025462T>C | CA404315483 | NFIX | c.466T>C (p.Ser156Pro) c.287T>C c.469T>C (p.Ser157Pro) c.493T>C (p.Ser165Pro) c.478T>C (p.Ser160Pro) c.234+94T>C (n.234+94T>C) c.445T>C (p.Ser149Pro) c.*300T>C (n.*300T>C) c.328T>C (p.Ser110Pro) c.517T>C (p.Ser173Pro) c.646T>C (p.Ser216Pro) | |
| 19 | g.13025462T>G | CA404315487 | NFIX | c.466T>G (p.Ser156Ala) c.287T>G c.469T>G (p.Ser157Ala) c.493T>G (p.Ser165Ala) c.478T>G (p.Ser160Ala) c.234+94T>G (n.234+94T>G) c.445T>G (p.Ser149Ala) c.*300T>G (n.*300T>G) c.328T>G (p.Ser110Ala) c.517T>G (p.Ser173Ala) c.646T>G (p.Ser216Ala) | dbSNP gnomAD v4 |
| 19 | g.13025462T= | CA2323688948 | NFIX | c.466T= (p.Ser156=) c.287T= c.469T= (p.Ser157=) c.493T= (p.Ser165=) c.478T= (p.Ser160=) c.234+94T= (n.234+94T=) c.445T= (p.Ser149=) c.*300T= (n.*300T=) c.328T= (p.Ser110=) c.517T= (p.Ser173=) c.646T= (p.Ser216=) | |
| 19 | g.13025463C>A | CA404315489 | NFIX | c.467C>A (p.Ser156Ter) c.288C>A c.470C>A (p.Ser157Ter) c.494C>A (p.Ser165Ter) c.479C>A (p.Ser160Ter) c.234+95C>A (n.234+95C>A) c.446C>A (p.Ser149Ter) c.*301C>A (n.*301C>A) c.329C>A (p.Ser110Ter) c.518C>A (p.Ser173Ter) c.647C>A (p.Ser216Ter) | |
| 19 | g.13025463C= | CA2323688949 | NFIX | c.467C= (p.Ser156=) c.288C= c.470C= (p.Ser157=) c.494C= (p.Ser165=) c.479C= (p.Ser160=) c.234+95C= (n.234+95C=) c.446C= (p.Ser149=) c.*301C= (n.*301C=) c.329C= (p.Ser110=) c.518C= (p.Ser173=) c.647C= (p.Ser216=) | |
| 19 | g.13025463C>G | CA404315505 | NFIX | c.467C>G (p.Ser156Trp) c.288C>G c.470C>G (p.Ser157Trp) c.494C>G (p.Ser165Trp) c.479C>G (p.Ser160Trp) c.234+95C>G (n.234+95C>G) c.446C>G (p.Ser149Trp) c.*301C>G (n.*301C>G) c.329C>G (p.Ser110Trp) c.518C>G (p.Ser173Trp) c.647C>G (p.Ser216Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13025463C>T | CA404315508 | NFIX | c.467C>T (p.Ser156Leu) c.288C>T c.470C>T (p.Ser157Leu) c.494C>T (p.Ser165Leu) c.479C>T (p.Ser160Leu) c.234+95C>T (n.234+95C>T) c.446C>T (p.Ser149Leu) c.*301C>T (n.*301C>T) c.329C>T (p.Ser110Leu) c.518C>T (p.Ser173Leu) c.647C>T (p.Ser216Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13025464G>A | CA505780859 | NFIX | c.468G>A (p.Ser156=) c.289G>A c.471G>A (p.Ser157=) c.495G>A (p.Ser165=) c.480G>A (p.Ser160=) c.234+96G>A (n.234+96G>A) c.447G>A (p.Ser149=) c.*302G>A (n.*302G>A) c.330G>A (p.Ser110=) c.519G>A (p.Ser173=) c.648G>A (p.Ser216=) | dbSNP gnomAD v2 |
| 19 | g.13025464G>C | CA505780860 | NFIX | c.468G>C (p.Ser156=) c.289G>C c.471G>C (p.Ser157=) c.495G>C (p.Ser165=) c.480G>C (p.Ser160=) c.234+96G>C (n.234+96G>C) c.447G>C (p.Ser149=) c.*302G>C (n.*302G>C) c.330G>C (p.Ser110=) c.519G>C (p.Ser173=) c.648G>C (p.Ser216=) | |
| 19 | g.13025464G= | CA2323688950 | NFIX | c.468G= (p.Ser156=) c.289G= c.471G= (p.Ser157=) c.495G= (p.Ser165=) c.480G= (p.Ser160=) c.234+96G= (n.234+96G=) c.447G= (p.Ser149=) c.*302G= (n.*302G=) c.330G= (p.Ser110=) c.519G= (p.Ser173=) c.648G= (p.Ser216=) | |
| 19 | g.13025464G>T | CA505780861 | NFIX | c.468G>T (p.Ser156=) c.289G>T c.471G>T (p.Ser157=) c.495G>T (p.Ser165=) c.480G>T (p.Ser160=) c.234+96G>T (n.234+96G>T) c.447G>T (p.Ser149=) c.*302G>T (n.*302G>T) c.330G>T (p.Ser110=) c.519G>T (p.Ser173=) c.648G>T (p.Ser216=) | |
| 19 | g.13025465A>C | CA404315512 | NFIX | c.469A>C (p.Asn157His) c.290A>C c.472A>C (p.Asn158His) c.496A>C (p.Asn166His) c.481A>C (p.Asn161His) c.234+97A>C (n.234+97A>C) c.448A>C (p.Asn150His) c.*303A>C (n.*303A>C) c.331A>C (p.Asn111His) c.520A>C (p.Asn174His) c.649A>C (p.Asn217His) | |
| 19 | g.13025465A>G | CA404315516 | NFIX | c.469A>G (p.Asn157Asp) c.290A>G c.472A>G (p.Asn158Asp) c.496A>G (p.Asn166Asp) c.481A>G (p.Asn161Asp) c.234+97A>G (n.234+97A>G) c.448A>G (p.Asn150Asp) c.*303A>G (n.*303A>G) c.331A>G (p.Asn111Asp) c.520A>G (p.Asn174Asp) c.649A>G (p.Asn217Asp) | |
| 19 | g.13025465A>T | CA404315519 | NFIX | c.469A>T (p.Asn157Tyr) c.290A>T c.472A>T (p.Asn158Tyr) c.496A>T (p.Asn166Tyr) c.481A>T (p.Asn161Tyr) c.234+97A>T (n.234+97A>T) c.448A>T (p.Asn150Tyr) c.*303A>T (n.*303A>T) c.331A>T (p.Asn111Tyr) c.520A>T (p.Asn174Tyr) c.649A>T (p.Asn217Tyr) | |
| 19 | g.13025466A= | CA2323688951 | NFIX | c.470A= (p.Asn157=) c.291A= c.473A= (p.Asn158=) c.497A= (p.Asn166=) c.482A= (p.Asn161=) c.234+98A= (n.234+98A=) c.449A= (p.Asn150=) c.*304A= (n.*304A=) c.332A= (p.Asn111=) c.521A= (p.Asn174=) c.650A= (p.Asn217=) | |
| 19 | g.13025466A>C | CA404315522 | NFIX | c.470A>C (p.Asn157Thr) c.291A>C c.473A>C (p.Asn158Thr) c.497A>C (p.Asn166Thr) c.482A>C (p.Asn161Thr) c.234+98A>C (n.234+98A>C) c.449A>C (p.Asn150Thr) c.*304A>C (n.*304A>C) c.332A>C (p.Asn111Thr) c.521A>C (p.Asn174Thr) c.650A>C (p.Asn217Thr) | dbSNP |
| 19 | g.13025466A>G | CA404315524 | NFIX | c.470A>G (p.Asn157Ser) c.291A>G c.473A>G (p.Asn158Ser) c.497A>G (p.Asn166Ser) c.482A>G (p.Asn161Ser) c.234+98A>G (n.234+98A>G) c.449A>G (p.Asn150Ser) c.*304A>G (n.*304A>G) c.332A>G (p.Asn111Ser) c.521A>G (p.Asn174Ser) c.650A>G (p.Asn217Ser) | |
| 19 | g.13025466A>T | CA404315527 | NFIX | c.470A>T (p.Asn157Ile) c.291A>T c.473A>T (p.Asn158Ile) c.497A>T (p.Asn166Ile) c.482A>T (p.Asn161Ile) c.234+98A>T (n.234+98A>T) c.449A>T (p.Asn150Ile) c.*304A>T (n.*304A>T) c.332A>T (p.Asn111Ile) c.521A>T (p.Asn174Ile) c.650A>T (p.Asn217Ile) | |
| 19 | g.13025467C>A | CA404315532 | NFIX | c.471C>A (p.Asn157Lys) c.292C>A c.474C>A (p.Asn158Lys) c.498C>A (p.Asn166Lys) c.483C>A (p.Asn161Lys) c.234+99C>A (n.234+99C>A) c.450C>A (p.Asn150Lys) c.*305C>A (n.*305C>A) c.333C>A (p.Asn111Lys) c.522C>A (p.Asn174Lys) c.651C>A (p.Asn217Lys) | gnomAD v4 |
| 19 | g.13025467C= | CA2323688952 | NFIX | c.471C= (p.Asn157=) c.292C= c.474C= (p.Asn158=) c.498C= (p.Asn166=) c.483C= (p.Asn161=) c.234+99C= (n.234+99C=) c.450C= (p.Asn150=) c.*305C= (n.*305C=) c.333C= (p.Asn111=) c.522C= (p.Asn174=) c.651C= (p.Asn217=) | |
| 19 | g.13025467C>G | CA404315544 | NFIX | c.471C>G (p.Asn157Lys) c.292C>G c.474C>G (p.Asn158Lys) c.498C>G (p.Asn166Lys) c.483C>G (p.Asn161Lys) c.234+99C>G (n.234+99C>G) c.450C>G (p.Asn150Lys) c.*305C>G (n.*305C>G) c.333C>G (p.Asn111Lys) c.522C>G (p.Asn174Lys) c.651C>G (p.Asn217Lys) | |
| 19 | g.13025467C>T | CA505780863 | NFIX | c.471C>T (p.Asn157=) c.292C>T c.474C>T (p.Asn158=) c.498C>T (p.Asn166=) c.483C>T (p.Asn161=) c.234+99C>T (n.234+99C>T) c.450C>T (p.Asn150=) c.*305C>T (n.*305C>T) c.333C>T (p.Asn111=) c.522C>T (p.Asn174=) c.651C>T (p.Asn217=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13025470dup | CA1139666303 | NFIX | c.474dup (p.Gly159ArgfsTer?) c.295dup c.477dup (p.Gly160ArgfsTer?) c.501dup (p.Gly168ArgfsTer?) c.486dup (p.Gly163ArgfsTer?) c.234+102dup (n.234+102dup) c.453dup (p.Gly152ArgfsTer?) c.*308dup (n.*308dup) c.336dup (p.Gly113ArgfsTer?) c.525dup (p.Gly176ArgfsTer?) c.654dup (p.Gly219ArgfsTer?) | ClinVar dbSNP |
| 19 | g.13025468C>A | CA404315550 | NFIX | c.472C>A (p.Pro158Thr) c.293C>A c.475C>A (p.Pro159Thr) c.499C>A (p.Pro167Thr) c.484C>A (p.Pro162Thr) c.234+100C>A (n.234+100C>A) c.451C>A (p.Pro151Thr) c.*306C>A (n.*306C>A) c.334C>A (p.Pro112Thr) c.523C>A (p.Pro175Thr) c.652C>A (p.Pro218Thr) | gnomAD v4 |
| 19 | g.13025468C>G | CA404315554 | NFIX | c.472C>G (p.Pro158Ala) c.293C>G c.475C>G (p.Pro159Ala) c.499C>G (p.Pro167Ala) c.484C>G (p.Pro162Ala) c.234+100C>G (n.234+100C>G) c.451C>G (p.Pro151Ala) c.*306C>G (n.*306C>G) c.334C>G (p.Pro112Ala) c.523C>G (p.Pro175Ala) c.652C>G (p.Pro218Ala) | |
| 19 | g.13025468C>T | CA404315557 | NFIX | c.472C>T (p.Pro158Ser) c.293C>T c.475C>T (p.Pro159Ser) c.499C>T (p.Pro167Ser) c.484C>T (p.Pro162Ser) c.234+100C>T (n.234+100C>T) c.451C>T (p.Pro151Ser) c.*306C>T (n.*306C>T) c.334C>T (p.Pro112Ser) c.523C>T (p.Pro175Ser) c.652C>T (p.Pro218Ser) | |
| 19 | g.13025469C>A | CA404315562 | NFIX | c.473C>A (p.Pro158His) c.294C>A c.476C>A (p.Pro159His) c.500C>A (p.Pro167His) c.485C>A (p.Pro162His) c.234+101C>A (n.234+101C>A) c.452C>A (p.Pro151His) c.*307C>A (n.*307C>A) c.335C>A (p.Pro112His) c.524C>A (p.Pro175His) c.653C>A (p.Pro218His) | |
| 19 | g.13025469C>G | CA404315564 | NFIX | c.473C>G (p.Pro158Arg) c.294C>G c.476C>G (p.Pro159Arg) c.500C>G (p.Pro167Arg) c.485C>G (p.Pro162Arg) c.234+101C>G (n.234+101C>G) c.452C>G (p.Pro151Arg) c.*307C>G (n.*307C>G) c.335C>G (p.Pro112Arg) c.524C>G (p.Pro175Arg) c.653C>G (p.Pro218Arg) | |
| 19 | g.13025469C>T | CA404315567 | NFIX | c.473C>T (p.Pro158Leu) c.294C>T c.476C>T (p.Pro159Leu) c.500C>T (p.Pro167Leu) c.485C>T (p.Pro162Leu) c.234+101C>T (n.234+101C>T) c.452C>T (p.Pro151Leu) c.*307C>T (n.*307C>T) c.335C>T (p.Pro112Leu) c.524C>T (p.Pro175Leu) c.653C>T (p.Pro218Leu) | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13025470C>A | CA505780864 | NFIX | c.474C>A (p.Pro158=) c.295C>A c.477C>A (p.Pro159=) c.501C>A (p.Pro167=) c.486C>A (p.Pro162=) c.234+102C>A (n.234+102C>A) c.453C>A (p.Pro151=) c.*308C>A (n.*308C>A) c.336C>A (p.Pro112=) c.525C>A (p.Pro175=) c.654C>A (p.Pro218=) | |
| 19 | g.13025470C= | CA2323688953 | NFIX | c.474C= (p.Pro158=) c.295C= c.477C= (p.Pro159=) c.501C= (p.Pro167=) c.486C= (p.Pro162=) c.234+102C= (n.234+102C=) c.453C= (p.Pro151=) c.*308C= (n.*308C=) c.336C= (p.Pro112=) c.525C= (p.Pro175=) c.654C= (p.Pro218=) | |
| 19 | g.13025470C>G | CA505780866 | NFIX | c.474C>G (p.Pro158=) c.295C>G c.477C>G (p.Pro159=) c.501C>G (p.Pro167=) c.486C>G (p.Pro162=) c.234+102C>G (n.234+102C>G) c.453C>G (p.Pro151=) c.*308C>G (n.*308C>G) c.336C>G (p.Pro112=) c.525C>G (p.Pro175=) c.654C>G (p.Pro218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13025470C>T | CA505780865 | NFIX | c.474C>T (p.Pro158=) c.295C>T c.477C>T (p.Pro159=) c.501C>T (p.Pro167=) c.486C>T (p.Pro162=) c.234+102C>T (n.234+102C>T) c.453C>T (p.Pro151=) c.*308C>T (n.*308C>T) c.336C>T (p.Pro112=) c.525C>T (p.Pro175=) c.654C>T (p.Pro218=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13025471G>A | CA404315578 | NFIX | c.475G>A (p.Gly159Ser) c.296G>A c.478G>A (p.Gly160Ser) c.502G>A (p.Gly168Ser) c.487G>A (p.Gly163Ser) c.234+103G>A (n.234+103G>A) c.454G>A (p.Gly152Ser) c.*309G>A (n.*309G>A) c.337G>A (p.Gly113Ser) c.526G>A (p.Gly176Ser) c.655G>A (p.Gly219Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13025471G>C | CA404315569 | NFIX | c.475G>C (p.Gly159Arg) c.296G>C c.478G>C (p.Gly160Arg) c.502G>C (p.Gly168Arg) c.487G>C (p.Gly163Arg) c.234+103G>C (n.234+103G>C) c.454G>C (p.Gly152Arg) c.*309G>C (n.*309G>C) c.337G>C (p.Gly113Arg) c.526G>C (p.Gly176Arg) c.655G>C (p.Gly219Arg) | |
| 19 | g.13025471G= | CA2323688954 | NFIX | c.475G= (p.Gly159=) c.296G= c.478G= (p.Gly160=) c.502G= (p.Gly168=) c.487G= (p.Gly163=) c.234+103G= (n.234+103G=) c.454G= (p.Gly152=) c.*309G= (n.*309G=) c.337G= (p.Gly113=) c.526G= (p.Gly176=) c.655G= (p.Gly219=) | |
| 19 | g.13025471G>T | CA404315576 | NFIX | c.475G>T (p.Gly159Cys) c.296G>T c.478G>T (p.Gly160Cys) c.502G>T (p.Gly168Cys) c.487G>T (p.Gly163Cys) c.234+103G>T (n.234+103G>T) c.454G>T (p.Gly152Cys) c.*309G>T (n.*309G>T) c.337G>T (p.Gly113Cys) c.526G>T (p.Gly176Cys) c.655G>T (p.Gly219Cys) | |
| 19 | g.13025472G>A | CA404315583 | NFIX | c.476G>A (p.Gly159Asp) c.297G>A c.479G>A (p.Gly160Asp) c.503G>A (p.Gly168Asp) c.488G>A (p.Gly163Asp) c.234+104G>A (n.234+104G>A) c.455G>A (p.Gly152Asp) c.*310G>A (n.*310G>A) c.338G>A (p.Gly113Asp) c.527G>A (p.Gly176Asp) c.656G>A (p.Gly219Asp) |