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 |
|---|---|---|---|---|---|
| 11 | g.67490840T>A | CA381554731 | AIP | c.1147T>A c.651T>A (p.Asn217Lys) n.1682T>A c.469-157T>A (n.469-157T>A) c.471T>A (p.Asn157Lys) c.840T>A (p.Asn280Lys) c.832T>A (p.Cys278Ser) c.663T>A (p.Asn221Lys) c.829T>A (p.Cys277Ser) c.660T>A (p.Asn220Lys) | |
| 11 | g.67490840T>C | CA475509502 | AIP | c.1147T>C c.651T>C (p.Asn217=) n.1682T>C c.469-157T>C (n.469-157T>C) c.471T>C (p.Asn157=) c.840T>C (p.Asn280=) c.832T>C (p.Cys278Arg) c.663T>C (p.Asn221=) c.829T>C (p.Cys277Arg) c.660T>C (p.Asn220=) | |
| 11 | g.67490840T>G | CA381554729 | AIP | c.1147T>G c.651T>G (p.Asn217Lys) n.1682T>G c.469-157T>G (n.469-157T>G) c.471T>G (p.Asn157Lys) c.840T>G (p.Asn280Lys) c.832T>G (p.Cys278Gly) c.663T>G (p.Asn221Lys) c.829T>G (p.Cys277Gly) c.660T>G (p.Asn220Lys) | |
| 11 | g.67490841G>A | CA381554735 | AIP | c.1148G>A c.652G>A (p.Ala218Thr) n.1683G>A c.469-156G>A (n.469-156G>A) c.472G>A (p.Ala158Thr) c.841G>A (p.Ala281Thr) c.833G>A (p.Cys278Tyr) c.664G>A (p.Ala222Thr) c.830G>A (p.Cys277Tyr) c.661G>A (p.Ala221Thr) | |
| 11 | g.67490841G>C | CA381554737 | AIP | c.1148G>C c.652G>C (p.Ala218Pro) n.1683G>C c.469-156G>C (n.469-156G>C) c.472G>C (p.Ala158Pro) c.841G>C (p.Ala281Pro) c.833G>C (p.Cys278Ser) c.664G>C (p.Ala222Pro) c.830G>C (p.Cys277Ser) c.661G>C (p.Ala221Pro) | |
| 11 | g.67490841G>T | CA381554740 | AIP | c.1148G>T c.652G>T (p.Ala218Ser) n.1683G>T c.469-156G>T (n.469-156G>T) c.472G>T (p.Ala158Ser) c.841G>T (p.Ala281Ser) c.833G>T (p.Cys278Phe) c.664G>T (p.Ala222Ser) c.830G>T (p.Cys277Phe) c.661G>T (p.Ala221Ser) | |
| 11 | g.67490842C>A | CA381554743 | AIP | c.1149C>A c.653C>A (p.Ala218Asp) n.1684C>A c.469-155C>A (n.469-155C>A) c.473C>A (p.Ala158Asp) c.842C>A (p.Ala281Asp) c.834C>A (p.Cys278Ter) c.665C>A (p.Ala222Asp) c.831C>A (p.Cys277Ter) c.662C>A (p.Ala221Asp) | |
| 11 | g.67490842C= | CA1980172662 | AIP | c.1149C= c.653C= (p.Ala218=) n.1684C= c.469-155C= (n.469-155C=) c.473C= (p.Ala158=) c.842C= (p.Ala281=) c.834C= (p.Cys278=) c.665C= (p.Ala222=) c.831C= (p.Cys277=) c.662C= (p.Ala221=) | |
| 11 | g.67490842C>G | CA381554746 | AIP | c.1149C>G c.653C>G (p.Ala218Gly) n.1684C>G c.469-155C>G (n.469-155C>G) c.473C>G (p.Ala158Gly) c.842C>G (p.Ala281Gly) c.834C>G (p.Cys278Trp) c.665C>G (p.Ala222Gly) c.831C>G (p.Cys277Trp) c.662C>G (p.Ala221Gly) | |
| 11 | g.67490842C>T | CA381554749 | AIP | c.1149C>T c.653C>T (p.Ala218Val) n.1684C>T c.469-155C>T (n.469-155C>T) c.473C>T (p.Ala158Val) c.842C>T (p.Ala281Val) c.834C>T (p.Cys278=) c.665C>T (p.Ala222Val) c.831C>T (p.Cys277=) c.662C>T (p.Ala221Val) | dbSNP |
| 11 | g.67490844dup | CA2695198923 | AIP | c.1151dup c.655dup (p.Gln219ProfsTer6) n.1686dup c.469-153dup (n.469-153dup) c.475dup (p.Gln159ProfsTer6) c.844dup (p.Gln282ProfsTer6) c.836dup (p.Gly280ArgfsTer21) c.667dup (p.Gln223ProfsTer6) c.833dup (p.Gly279ArgfsTer21) c.664dup (p.Gln222ProfsTer6) | ClinVar |
| 11 | g.67490843C>A | CA475509506 | AIP | c.1150C>A c.654C>A (p.Ala218=) n.1685C>A c.469-154C>A (n.469-154C>A) c.474C>A (p.Ala158=) c.843C>A (p.Ala281=) c.835C>A (p.Pro279Thr) c.666C>A (p.Ala222=) c.832C>A (p.Pro278Thr) c.663C>A (p.Ala221=) | |
| 11 | g.67490843C>G | CA475509507 | AIP | c.1150C>G c.654C>G (p.Ala218=) n.1685C>G c.469-154C>G (n.469-154C>G) c.474C>G (p.Ala158=) c.843C>G (p.Ala281=) c.835C>G (p.Pro279Ala) c.666C>G (p.Ala222=) c.832C>G (p.Pro278Ala) c.663C>G (p.Ala221=) | |
| 11 | g.67490843C>T | CA475509508 | AIP | c.1150C>T c.654C>T (p.Ala218=) n.1685C>T c.469-154C>T (n.469-154C>T) c.474C>T (p.Ala158=) c.843C>T (p.Ala281=) c.835C>T (p.Pro279Ser) c.666C>T (p.Ala222=) c.832C>T (p.Pro278Ser) c.663C>T (p.Ala221=) | |
| 11 | g.67490844C>A | CA381554753 | AIP | c.1151C>A c.655C>A (p.Gln219Lys) n.1686C>A c.469-153C>A (n.469-153C>A) c.475C>A (p.Gln159Lys) c.844C>A (p.Gln282Lys) c.836C>A (p.Pro279Gln) c.667C>A (p.Gln223Lys) c.833C>A (p.Pro278Gln) c.664C>A (p.Gln222Lys) | |
| 11 | g.67490844C>G | CA381554763 | AIP | c.1151C>G c.655C>G (p.Gln219Glu) n.1686C>G c.469-153C>G (n.469-153C>G) c.475C>G (p.Gln159Glu) c.844C>G (p.Gln282Glu) c.836C>G (p.Pro279Arg) c.667C>G (p.Gln223Glu) c.833C>G (p.Pro278Arg) c.664C>G (p.Gln222Glu) | |
| 11 | g.67490844C>T | CA381554767 | AIP | c.1151C>T c.655C>T (p.Gln219Ter) n.1686C>T c.469-153C>T (n.469-153C>T) c.475C>T (p.Gln159Ter) c.844C>T (p.Gln282Ter) c.836C>T (p.Pro279Leu) c.667C>T (p.Gln223Ter) c.833C>T (p.Pro278Leu) c.664C>T (p.Gln222Ter) | |
| 11 | g.67490845A>C | CA381554772 | AIP | c.1152A>C c.656A>C (p.Gln219Pro) n.1687A>C c.469-152A>C (n.469-152A>C) c.476A>C (p.Gln159Pro) c.845A>C (p.Gln282Pro) c.837A>C (p.Pro279=) c.668A>C (p.Gln223Pro) c.834A>C (p.Pro278=) c.665A>C (p.Gln222Pro) | |
| 11 | g.67490845A>G | CA381554774 | AIP | c.1152A>G c.656A>G (p.Gln219Arg) n.1687A>G c.469-152A>G (n.469-152A>G) c.476A>G (p.Gln159Arg) c.845A>G (p.Gln282Arg) c.837A>G (p.Pro279=) c.668A>G (p.Gln223Arg) c.834A>G (p.Pro278=) c.665A>G (p.Gln222Arg) | ClinVar dbSNP |
| 11 | g.67490845A>T | CA381554778 | AIP | c.1152A>T c.656A>T (p.Gln219Leu) n.1687A>T c.469-152A>T (n.469-152A>T) c.476A>T (p.Gln159Leu) c.845A>T (p.Gln282Leu) c.837A>T (p.Pro279=) c.668A>T (p.Gln223Leu) c.834A>T (p.Pro278=) c.665A>T (p.Gln222Leu) | |
| 11 | g.67490846G>A | CA475509514 | AIP | c.1153G>A c.657G>A (p.Gln219=) n.1688G>A c.469-151G>A (n.469-151G>A) c.477G>A (p.Gln159=) c.846G>A (p.Gln282=) c.838G>A (p.Gly280Arg) c.669G>A (p.Gln223=) c.835G>A (p.Gly279Arg) c.666G>A (p.Gln222=) | |
| 11 | g.67490846G>C | CA381554793 | AIP | c.1153G>C c.657G>C (p.Gln219His) n.1688G>C c.469-151G>C (n.469-151G>C) c.477G>C (p.Gln159His) c.846G>C (p.Gln282His) c.838G>C (p.Gly280Arg) c.669G>C (p.Gln223His) c.835G>C (p.Gly279Arg) c.666G>C (p.Gln222His) | |
| 11 | g.67490846G>T | CA381554781 | AIP | c.1153G>T c.657G>T (p.Gln219His) n.1688G>T c.469-151G>T (n.469-151G>T) c.477G>T (p.Gln159His) c.846G>T (p.Gln282His) c.838G>T (p.Gly280Ter) c.669G>T (p.Gln223His) c.835G>T (p.Gly279Ter) c.666G>T (p.Gln222His) | |
| 11 | g.67490847G>A | CA381554796 | AIP | c.1154G>A c.658G>A (p.Glu220Lys) n.1689G>A c.469-150G>A (n.469-150G>A) c.478G>A (p.Glu160Lys) c.847G>A (p.Glu283Lys) c.839G>A (p.Gly280Glu) c.670G>A (p.Glu224Lys) c.836G>A (p.Gly279Glu) c.667G>A (p.Glu223Lys) | |
| 11 | g.67490847G>C | CA381554799 | AIP | c.1154G>C c.658G>C (p.Glu220Gln) n.1689G>C c.469-150G>C (n.469-150G>C) c.478G>C (p.Glu160Gln) c.847G>C (p.Glu283Gln) c.839G>C (p.Gly280Ala) c.670G>C (p.Glu224Gln) c.836G>C (p.Gly279Ala) c.667G>C (p.Glu223Gln) | COSMIC |
| 11 | g.67490847G>T | CA381554802 | AIP | c.1154G>T c.658G>T (p.Glu220Ter) n.1689G>T c.469-150G>T (n.469-150G>T) c.478G>T (p.Glu160Ter) c.847G>T (p.Glu283Ter) c.839G>T (p.Gly280Val) c.670G>T (p.Glu224Ter) c.836G>T (p.Gly279Val) c.667G>T (p.Glu223Ter) | |
| 11 | g.67490848A>C | CA381554807 | AIP | c.1155A>C c.659A>C (p.Glu220Ala) n.1690A>C c.469-149A>C (n.469-149A>C) c.479A>C (p.Glu160Ala) c.848A>C (p.Glu283Ala) c.840A>C (p.Gly280=) c.671A>C (p.Glu224Ala) c.837A>C (p.Gly279=) c.668A>C (p.Glu223Ala) | |
| 11 | g.67490848A>G | CA381554810 | AIP | c.1155A>G c.659A>G (p.Glu220Gly) n.1690A>G c.469-149A>G (n.469-149A>G) c.479A>G (p.Glu160Gly) c.848A>G (p.Glu283Gly) c.840A>G (p.Gly280=) c.671A>G (p.Glu224Gly) c.837A>G (p.Gly279=) c.668A>G (p.Glu223Gly) | |
| 11 | g.67490848A>T | CA381554819 | AIP | c.1155A>T c.659A>T (p.Glu220Val) n.1690A>T c.469-149A>T (n.469-149A>T) c.479A>T (p.Glu160Val) c.848A>T (p.Glu283Val) c.840A>T (p.Gly280=) c.671A>T (p.Glu224Val) c.837A>T (p.Gly279=) c.668A>T (p.Glu223Val) | |
| 11 | g.67490849G>A | CA475509521 | AIP | c.1156G>A c.660G>A (p.Glu220=) n.1691G>A c.469-148G>A (n.469-148G>A) c.480G>A (p.Glu160=) c.849G>A (p.Glu283=) c.841G>A (p.Gly281Ser) c.672G>A (p.Glu224=) c.838G>A (p.Gly280Ser) c.669G>A (p.Glu223=) | ClinVar dbSNP |
| 11 | g.67490849G>C | CA381554820 | AIP | c.1156G>C c.660G>C (p.Glu220Asp) n.1691G>C c.469-148G>C (n.469-148G>C) c.480G>C (p.Glu160Asp) c.849G>C (p.Glu283Asp) c.841G>C (p.Gly281Arg) c.672G>C (p.Glu224Asp) c.838G>C (p.Gly280Arg) c.669G>C (p.Glu223Asp) | |
| 11 | g.67490849G>T | CA381554822 | AIP | c.1156G>T c.660G>T (p.Glu220Asp) n.1691G>T c.469-148G>T (n.469-148G>T) c.480G>T (p.Glu160Asp) c.849G>T (p.Glu283Asp) c.841G>T (p.Gly281Cys) c.672G>T (p.Glu224Asp) c.838G>T (p.Gly280Cys) c.669G>T (p.Glu223Asp) | |
| 11 | g.67490850G>A | CA381554828 | AIP | c.1157G>A c.661G>A (p.Ala221Thr) n.1692G>A c.469-147G>A (n.469-147G>A) c.481G>A (p.Ala161Thr) c.850G>A (p.Ala284Thr) c.842G>A (p.Gly281Asp) c.673G>A (p.Ala225Thr) c.839G>A (p.Gly280Asp) c.670G>A (p.Ala224Thr) | ClinVar dbSNP gnomAD v2 |
| 11 | g.67490850G>C | CA381554834 | AIP | c.1157G>C c.661G>C (p.Ala221Pro) n.1692G>C c.469-147G>C (n.469-147G>C) c.481G>C (p.Ala161Pro) c.850G>C (p.Ala284Pro) c.842G>C (p.Gly281Ala) c.673G>C (p.Ala225Pro) c.839G>C (p.Gly280Ala) c.670G>C (p.Ala224Pro) | |
| 11 | g.67490850G= | CA1980172663 | AIP | c.1157G= c.661G= (p.Ala221=) n.1692G= c.469-147G= (n.469-147G=) c.481G= (p.Ala161=) c.850G= (p.Ala284=) c.842G= (p.Gly281=) c.673G= (p.Ala225=) c.839G= (p.Gly280=) c.670G= (p.Ala224=) | |
| 11 | g.67490850G>T | CA381554831 | AIP | c.1157G>T c.661G>T (p.Ala221Ser) n.1692G>T c.469-147G>T (n.469-147G>T) c.481G>T (p.Ala161Ser) c.850G>T (p.Ala284Ser) c.842G>T (p.Gly281Val) c.673G>T (p.Ala225Ser) c.839G>T (p.Gly280Val) c.670G>T (p.Ala224Ser) | |
| 11 | g.67490851C>A | CA381554839 | AIP | c.1158C>A c.662C>A (p.Ala221Asp) n.1693C>A c.469-146C>A (n.469-146C>A) c.482C>A (p.Ala161Asp) c.851C>A (p.Ala284Asp) c.843C>A (p.Gly281=) c.674C>A (p.Ala225Asp) c.840C>A (p.Gly280=) c.671C>A (p.Ala224Asp) | COSMIC |
| 11 | g.67490851C>G | CA381554842 | AIP | c.1158C>G c.662C>G (p.Ala221Gly) n.1693C>G c.469-146C>G (n.469-146C>G) c.482C>G (p.Ala161Gly) c.851C>G (p.Ala284Gly) c.843C>G (p.Gly281=) c.674C>G (p.Ala225Gly) c.840C>G (p.Gly280=) c.671C>G (p.Ala224Gly) | ClinVar dbSNP |
| 11 | g.67490851C>T | CA381554844 | AIP | c.1158C>T c.662C>T (p.Ala221Val) n.1693C>T c.469-146C>T (n.469-146C>T) c.482C>T (p.Ala161Val) c.851C>T (p.Ala284Val) c.843C>T (p.Gly281=) c.674C>T (p.Ala225Val) c.840C>T (p.Gly280=) c.671C>T (p.Ala224Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490852C>A | CA475509525 | AIP | c.1159C>A c.663C>A (p.Ala221=) n.1694C>A c.469-145C>A (n.469-145C>A) c.483C>A (p.Ala161=) c.852C>A (p.Ala284=) c.844C>A (p.Pro282Thr) c.675C>A (p.Ala225=) c.841C>A (p.Pro281Thr) c.672C>A (p.Ala224=) | |
| 11 | g.67490852C= | CA1980172664 | AIP | c.1159C= c.663C= (p.Ala221=) n.1694C= c.469-145C= (n.469-145C=) c.483C= (p.Ala161=) c.852C= (p.Ala284=) c.844C= (p.Pro282=) c.675C= (p.Ala225=) c.841C= (p.Pro281=) c.672C= (p.Ala224=) | |
| 11 | g.67490852C>G | CA6140991 | AIP | c.1159C>G c.663C>G (p.Ala221=) n.1694C>G c.469-145C>G (n.469-145C>G) c.483C>G (p.Ala161=) c.852C>G (p.Ala284=) c.844C>G (p.Pro282Ala) c.675C>G (p.Ala225=) c.841C>G (p.Pro281Ala) c.672C>G (p.Ala224=) | dbSNP ExAC gnomAD v4 |
| 11 | g.67490852C>T | CA475509526 | AIP | c.1159C>T c.663C>T (p.Ala221=) n.1694C>T c.469-145C>T (n.469-145C>T) c.483C>T (p.Ala161=) c.852C>T (p.Ala284=) c.844C>T (p.Pro282Ser) c.675C>T (p.Ala225=) c.841C>T (p.Pro281Ser) c.672C>T (p.Ala224=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490852_67490856delinsCCAGG | CA1980172665 | AIP | c.1159_1163delinsCCAGG c.663_667delinsCCAGG (p.Ala221=) n.1694_1698delinsCCAGG c.469-145_469-141delinsCCAGG (n.469-145_469-141delinsCCAGG) c.483_487delinsCCAGG (p.Ala161=) c.852_856delinsCCAGG (p.Ala284=) c.844_848delinsCCAGG (p.Pro282=) c.675_679delinsCCAGG (p.Ala225=) c.841_845delinsCCAGG (p.Pro281=) c.672_676delinsCCAGG (p.Ala224=) | |
| 11 | g.67490853C>A | CA381554855 | AIP | c.1160C>A c.664C>A (p.Gln222Lys) n.1695C>A c.469-144C>A (n.469-144C>A) c.484C>A (p.Gln162Lys) c.853C>A (p.Gln285Lys) c.845C>A (p.Pro282Gln) c.676C>A (p.Gln226Lys) c.842C>A (p.Pro281Gln) c.673C>A (p.Gln225Lys) | |
| 11 | g.67490853C>G | CA381554868 | AIP | c.1160C>G c.664C>G (p.Gln222Glu) n.1695C>G c.469-144C>G (n.469-144C>G) c.484C>G (p.Gln162Glu) c.853C>G (p.Gln285Glu) c.845C>G (p.Pro282Arg) c.676C>G (p.Gln226Glu) c.842C>G (p.Pro281Arg) c.673C>G (p.Gln225Glu) | |
| 11 | g.67490853C>T | CA381554863 | AIP | c.1160C>T c.664C>T (p.Gln222Ter) n.1695C>T c.469-144C>T (n.469-144C>T) c.484C>T (p.Gln162Ter) c.853C>T (p.Gln285Ter) c.845C>T (p.Pro282Leu) c.676C>T (p.Gln226Ter) c.842C>T (p.Pro281Leu) c.673C>T (p.Gln225Ter) | |
| 11 | g.67490854_67490857del | CA344209 | AIP | c.1161_1164del c.665_668del (p.Gln222LeufsTer17) n.1696_1699del c.469-143_469-140del (n.469-143_469-140del) c.485_488del (p.Gln162LeufsTer17) c.854_857del (p.Gln285LeufsTer17) c.846_849del (p.Gly283AspfsTer?) c.677_680del (p.Gln226LeufsTer17) c.843_846del (p.Gly282AspfsTer?) c.674_677del (p.Gln225LeufsTer17) c.665_668del (p.Gln222LeufsTer?) | ClinVar dbSNP |
| 11 | g.67490854A>C | CA381554872 | AIP | c.1161A>C c.665A>C (p.Gln222Pro) n.1696A>C c.469-143A>C (n.469-143A>C) c.485A>C (p.Gln162Pro) c.854A>C (p.Gln285Pro) c.846A>C (p.Pro282=) c.677A>C (p.Gln226Pro) c.843A>C (p.Pro281=) c.674A>C (p.Gln225Pro) | |
| 11 | g.67490854A>G | CA381554874 | AIP | c.1161A>G c.665A>G (p.Gln222Arg) n.1696A>G c.469-143A>G (n.469-143A>G) c.485A>G (p.Gln162Arg) c.854A>G (p.Gln285Arg) c.846A>G (p.Pro282=) c.677A>G (p.Gln226Arg) c.843A>G (p.Pro281=) c.674A>G (p.Gln225Arg) | |
| 11 | g.67490854A>T | CA381554877 | AIP | c.1161A>T c.665A>T (p.Gln222Leu) n.1696A>T c.469-143A>T (n.469-143A>T) c.485A>T (p.Gln162Leu) c.854A>T (p.Gln285Leu) c.846A>T (p.Pro282=) c.677A>T (p.Gln226Leu) c.843A>T (p.Pro281=) c.674A>T (p.Gln225Leu) | |
| 11 | g.67490855G>A | CA475509532 | AIP | c.1162G>A c.666G>A (p.Gln222=) n.1697G>A c.469-142G>A (n.469-142G>A) c.486G>A (p.Gln162=) c.855G>A (p.Gln285=) c.847G>A (p.Gly283Ser) c.678G>A (p.Gln226=) c.844G>A (p.Gly282Ser) c.675G>A (p.Gln225=) | |
| 11 | g.67490855G>C | CA381554882 | AIP | c.1162G>C c.666G>C (p.Gln222His) n.1697G>C c.469-142G>C (n.469-142G>C) c.486G>C (p.Gln162His) c.855G>C (p.Gln285His) c.847G>C (p.Gly283Arg) c.678G>C (p.Gln226His) c.844G>C (p.Gly282Arg) c.675G>C (p.Gln225His) | ClinVar dbSNP |
| 11 | g.67490855G= | CA1980172666 | AIP | c.1162G= c.666G= (p.Gln222=) n.1697G= c.469-142G= (n.469-142G=) c.486G= (p.Gln162=) c.855G= (p.Gln285=) c.847G= (p.Gly283=) c.678G= (p.Gln226=) c.844G= (p.Gly282=) c.675G= (p.Gln225=) | |
| 11 | g.67490855G>T | CA381554885 | AIP | c.1162G>T c.666G>T (p.Gln222His) n.1697G>T c.469-142G>T (n.469-142G>T) c.486G>T (p.Gln162His) c.855G>T (p.Gln285His) c.847G>T (p.Gly283Cys) c.678G>T (p.Gln226His) c.844G>T (p.Gly282Cys) c.675G>T (p.Gln225His) | gnomAD v4 |
| 11 | g.67490856G>A | CA381554886 | AIP | c.1163G>A c.667G>A (p.Ala223Thr) n.1698G>A c.469-141G>A (n.469-141G>A) c.487G>A (p.Ala163Thr) c.856G>A (p.Ala286Thr) c.848G>A (p.Gly283Asp) c.679G>A (p.Ala227Thr) c.845G>A (p.Gly282Asp) c.676G>A (p.Ala226Thr) | ClinVar dbSNP |
| 11 | g.67490856G>C | CA381554887 | AIP | c.1163G>C c.667G>C (p.Ala223Pro) n.1698G>C c.469-141G>C (n.469-141G>C) c.487G>C (p.Ala163Pro) c.856G>C (p.Ala286Pro) c.848G>C (p.Gly283Ala) c.679G>C (p.Ala227Pro) c.845G>C (p.Gly282Ala) c.676G>C (p.Ala226Pro) | |
| 11 | g.67490856G= | CA1980172667 | AIP | c.1163G= c.667G= (p.Ala223=) n.1698G= c.469-141G= (n.469-141G=) c.487G= (p.Ala163=) c.856G= (p.Ala286=) c.848G= (p.Gly283=) c.679G= (p.Ala227=) c.845G= (p.Gly282=) c.676G= (p.Ala226=) | |
| 11 | g.67490856G>T | CA381554888 | AIP | c.1163G>T c.667G>T (p.Ala223Ser) n.1698G>T c.469-141G>T (n.469-141G>T) c.487G>T (p.Ala163Ser) c.856G>T (p.Ala286Ser) c.848G>T (p.Gly283Val) c.679G>T (p.Ala227Ser) c.845G>T (p.Gly282Val) c.676G>T (p.Ala226Ser) | |
| 11 | g.67490857C>A | CA381554891 | AIP | c.1164C>A c.668C>A (p.Ala223Asp) n.1699C>A c.469-140C>A (n.469-140C>A) c.488C>A (p.Ala163Asp) c.857C>A (p.Ala286Asp) c.849C>A (p.Gly283=) c.680C>A (p.Ala227Asp) c.846C>A (p.Gly282=) c.677C>A (p.Ala226Asp) | dbSNP |
| 11 | g.67490857C= | CA1980172668 | AIP | c.1164C= c.668C= (p.Ala223=) n.1699C= c.469-140C= (n.469-140C=) c.488C= (p.Ala163=) c.857C= (p.Ala286=) c.849C= (p.Gly283=) c.680C= (p.Ala227=) c.846C= (p.Gly282=) c.677C= (p.Ala226=) | |
| 11 | g.67490857C>G | CA381554893 | AIP | c.1164C>G c.668C>G (p.Ala223Gly) n.1699C>G c.469-140C>G (n.469-140C>G) c.488C>G (p.Ala163Gly) c.857C>G (p.Ala286Gly) c.849C>G (p.Gly283=) c.680C>G (p.Ala227Gly) c.846C>G (p.Gly282=) c.677C>G (p.Ala226Gly) | |
| 11 | g.67490857C>T | CA6140992 | AIP | c.1164C>T c.668C>T (p.Ala223Val) n.1699C>T c.469-140C>T (n.469-140C>T) c.488C>T (p.Ala163Val) c.857C>T (p.Ala286Val) c.849C>T (p.Gly283=) c.680C>T (p.Ala227Val) c.846C>T (p.Gly282=) c.677C>T (p.Ala226Val) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.67490858T>A | CA475509538 | AIP | c.1165T>A c.669T>A (p.Ala223=) n.1700T>A c.469-139T>A (n.469-139T>A) c.489T>A (p.Ala163=) c.858T>A (p.Ala286=) c.850T>A (p.Ter284Arg) c.681T>A (p.Ala227=) c.847T>A (p.Ter283Arg) c.678T>A (p.Ala226=) | |
| 11 | g.67490858T>C | CA475509537 | AIP | c.1165T>C c.669T>C (p.Ala223=) n.1700T>C c.469-139T>C (n.469-139T>C) c.489T>C (p.Ala163=) c.858T>C (p.Ala286=) c.850T>C (p.Ter284Arg) c.681T>C (p.Ala227=) c.847T>C (p.Ter283Arg) c.678T>C (p.Ala226=) | ClinVar dbSNP |
| 11 | g.67490858T>G | CA475509535 | AIP | c.1165T>G c.669T>G (p.Ala223=) n.1700T>G c.469-139T>G (n.469-139T>G) c.489T>G (p.Ala163=) c.858T>G (p.Ala286=) c.850T>G (p.Ter284Gly) c.681T>G (p.Ala227=) c.847T>G (p.Ter283Gly) c.678T>G (p.Ala226=) | |
| 11 | g.67490858T= | CA1980172669 | AIP | c.1165T= c.669T= (p.Ala223=) n.1700T= c.469-139T= (n.469-139T=) c.489T= (p.Ala163=) c.858T= (p.Ala286=) c.850T= (p.Ter284=) c.681T= (p.Ala227=) c.847T= (p.Ter283=) c.678T= (p.Ala226=) | |
| 11 | g.67490859G>A | CA381554905 | AIP | c.1166G>A c.670G>A (p.Asp224Asn) n.1701G>A c.469-138G>A (n.469-138G>A) c.490G>A (p.Asp164Asn) c.859G>A (p.Asp287Asn) c.851G>A (p.Ter284=) c.682G>A (p.Asp228Asn) c.848G>A (p.Ter283=) c.679G>A (p.Asp227Asn) | |
| 11 | g.67490859G>C | CA381554906 | AIP | c.1166G>C c.670G>C (p.Asp224His) n.1701G>C c.469-138G>C (n.469-138G>C) c.490G>C (p.Asp164His) c.859G>C (p.Asp287His) c.851G>C (p.Ter284Ser) c.682G>C (p.Asp228His) c.848G>C (p.Ter283Ser) c.679G>C (p.Asp227His) | |
| 11 | g.67490859G>T | CA381554902 | AIP | c.1166G>T c.670G>T (p.Asp224Tyr) n.1701G>T c.469-138G>T (n.469-138G>T) c.490G>T (p.Asp164Tyr) c.859G>T (p.Asp287Tyr) c.851G>T (p.Ter284Leu) c.682G>T (p.Asp228Tyr) c.848G>T (p.Ter283Leu) c.679G>T (p.Asp227Tyr) | |
| 11 | g.67490860A>C | CA381554911 | AIP | c.1167A>C c.671A>C (p.Asp224Ala) n.1702A>C c.469-137A>C (n.469-137A>C) c.491A>C (p.Asp164Ala) c.860A>C (p.Asp287Ala) c.852A>C (p.Ter284Cys) c.683A>C (p.Asp228Ala) c.849A>C (p.Ter283Cys) c.680A>C (p.Asp227Ala) | |
| 11 | g.67490860A>G | CA381554915 | AIP | c.1167A>G c.671A>G (p.Asp224Gly) n.1702A>G c.469-137A>G (n.469-137A>G) c.491A>G (p.Asp164Gly) c.860A>G (p.Asp287Gly) c.852A>G (p.Ter284Trp) c.683A>G (p.Asp228Gly) c.849A>G (p.Ter283Trp) c.680A>G (p.Asp227Gly) | |
| 11 | g.67490860A>T | CA381554919 | AIP | c.1167A>T c.671A>T (p.Asp224Val) n.1702A>T c.469-137A>T (n.469-137A>T) c.491A>T (p.Asp164Val) c.860A>T (p.Asp287Val) c.852A>T (p.Ter284Cys) c.683A>T (p.Asp228Val) c.849A>T (p.Ter283Cys) c.680A>T (p.Asp227Val) | |
| 11 | g.67490861C>A | CA381554923 | AIP | c.1168C>A c.672C>A (p.Asp224Glu) n.1703C>A c.469-136C>A (n.469-136C>A) c.492C>A (p.Asp164Glu) c.861C>A (p.Asp287Glu) c.*1C>A (n.*1C>A) c.684C>A (p.Asp228Glu) c.681C>A (p.Asp227Glu) | |
| 11 | g.67490861C>G | CA381554927 | AIP | c.1168C>G c.672C>G (p.Asp224Glu) n.1703C>G c.469-136C>G (n.469-136C>G) c.492C>G (p.Asp164Glu) c.861C>G (p.Asp287Glu) c.*1C>G (n.*1C>G) c.684C>G (p.Asp228Glu) c.681C>G (p.Asp227Glu) | |
| 11 | g.67490861C>T | CA475509540 | AIP | c.1168C>T c.672C>T (p.Asp224=) n.1703C>T c.469-136C>T (n.469-136C>T) c.492C>T (p.Asp164=) c.861C>T (p.Asp287=) c.*1C>T (n.*1C>T) c.684C>T (p.Asp228=) c.681C>T (p.Asp227=) | |
| 11 | g.67490862T>A | CA381554931 | AIP | c.1169T>A c.673T>A (p.Phe225Ile) n.1704T>A c.469-135T>A (n.469-135T>A) c.493T>A (p.Phe165Ile) c.862T>A (p.Phe288Ile) c.*2T>A (n.*2T>A) c.685T>A (p.Phe229Ile) c.682T>A (p.Phe228Ile) | dbSNP |
| 11 | g.67490862T>C | CA381554935 | AIP | c.1169T>C c.673T>C (p.Phe225Leu) n.1704T>C c.469-135T>C (n.469-135T>C) c.493T>C (p.Phe165Leu) c.862T>C (p.Phe288Leu) c.*2T>C (n.*2T>C) c.685T>C (p.Phe229Leu) c.682T>C (p.Phe228Leu) | |
| 11 | g.67490862T>G | CA381554938 | AIP | c.1169T>G c.673T>G (p.Phe225Val) n.1704T>G c.469-135T>G (n.469-135T>G) c.493T>G (p.Phe165Val) c.862T>G (p.Phe288Val) c.*2T>G (n.*2T>G) c.685T>G (p.Phe229Val) c.682T>G (p.Phe228Val) | |
| 11 | g.67490862T= | CA1980172670 | AIP | c.1169T= c.673T= (p.Phe225=) n.1704T= c.469-135T= (n.469-135T=) c.493T= (p.Phe165=) c.862T= (p.Phe288=) c.*2T= (n.*2T=) c.685T= (p.Phe229=) c.682T= (p.Phe228=) | |
| 11 | g.67490863_67490864del | CA2614626118 | AIP | c.1170_1171del c.674_675del (p.Phe225CysfsTer?) n.1705_1706del c.469-134_469-133del (n.469-134_469-133del) c.494_495del (p.Phe165CysfsTer?) c.863_864del (p.Phe288CysfsTer?) c.*3_*4del (n.*3_*4del) c.686_687del (p.Phe229CysfsTer?) c.683_684del (p.Phe228CysfsTer?) | gnomAD v4 |
| 11 | g.67490863T>A | CA381554945 | AIP | c.1170T>A c.674T>A (p.Phe225Tyr) n.1705T>A c.469-134T>A (n.469-134T>A) c.494T>A (p.Phe165Tyr) c.863T>A (p.Phe288Tyr) c.*3T>A (n.*3T>A) c.686T>A (p.Phe229Tyr) c.683T>A (p.Phe228Tyr) | |
| 11 | g.67490863T>C | CA381554949 | AIP | c.1170T>C c.674T>C (p.Phe225Ser) n.1705T>C c.469-134T>C (n.469-134T>C) c.494T>C (p.Phe165Ser) c.863T>C (p.Phe288Ser) c.*3T>C (n.*3T>C) c.686T>C (p.Phe229Ser) c.683T>C (p.Phe228Ser) | |
| 11 | g.67490863T>G | CA381554947 | AIP | c.1170T>G c.674T>G (p.Phe225Cys) n.1705T>G c.469-134T>G (n.469-134T>G) c.494T>G (p.Phe165Cys) c.863T>G (p.Phe288Cys) c.*3T>G (n.*3T>G) c.686T>G (p.Phe229Cys) c.683T>G (p.Phe228Cys) | |
| 11 | g.67490864T>A | CA381554957 | AIP | c.1171T>A c.675T>A (p.Phe225Leu) n.1706T>A c.469-133T>A (n.469-133T>A) c.495T>A (p.Phe165Leu) c.864T>A (p.Phe288Leu) c.*4T>A (n.*4T>A) c.687T>A (p.Phe229Leu) c.684T>A (p.Phe228Leu) | |
| 11 | g.67490864T>C | CA475509544 | AIP | c.1171T>C c.675T>C (p.Phe225=) n.1706T>C c.469-133T>C (n.469-133T>C) c.495T>C (p.Phe165=) c.864T>C (p.Phe288=) c.*4T>C (n.*4T>C) c.687T>C (p.Phe229=) c.684T>C (p.Phe228=) | ClinVar gnomAD v4 |
| 11 | g.67490864T>G | CA381554959 | AIP | c.1171T>G c.675T>G (p.Phe225Leu) n.1706T>G c.469-133T>G (n.469-133T>G) c.495T>G (p.Phe165Leu) c.864T>G (p.Phe288Leu) c.*4T>G (n.*4T>G) c.687T>G (p.Phe229Leu) c.684T>G (p.Phe228Leu) | |
| 11 | g.67490865G>A | CA381554966 | AIP | c.1172G>A c.676G>A (p.Ala226Thr) n.1707G>A c.469-132G>A (n.469-132G>A) c.496G>A (p.Ala166Thr) c.865G>A (p.Ala289Thr) c.*5G>A (n.*5G>A) c.688G>A (p.Ala230Thr) c.685G>A (p.Ala229Thr) | ClinVar dbSNP |
| 11 | g.67490865G>C | CA381554970 | AIP | c.1172G>C c.676G>C (p.Ala226Pro) n.1707G>C c.469-132G>C (n.469-132G>C) c.496G>C (p.Ala166Pro) c.865G>C (p.Ala289Pro) c.*5G>C (n.*5G>C) c.688G>C (p.Ala230Pro) c.685G>C (p.Ala229Pro) | |
| 11 | g.67490865G= | CA1980172671 | AIP | c.1172G= c.676G= (p.Ala226=) n.1707G= c.469-132G= (n.469-132G=) c.496G= (p.Ala166=) c.865G= (p.Ala289=) c.*5G= (n.*5G=) c.688G= (p.Ala230=) c.685G= (p.Ala229=) | |
| 11 | g.67490865G>T | CA381554974 | AIP | c.1172G>T c.676G>T (p.Ala226Ser) n.1707G>T c.469-132G>T (n.469-132G>T) c.496G>T (p.Ala166Ser) c.865G>T (p.Ala289Ser) c.*5G>T (n.*5G>T) c.688G>T (p.Ala230Ser) c.685G>T (p.Ala229Ser) | |
| 11 | g.67490866C>A | CA381554981 | AIP | c.1173C>A c.677C>A (p.Ala226Asp) n.1708C>A c.469-131C>A (n.469-131C>A) c.497C>A (p.Ala166Asp) c.866C>A (p.Ala289Asp) c.*6C>A (n.*6C>A) c.689C>A (p.Ala230Asp) c.686C>A (p.Ala229Asp) | |
| 11 | g.67490866C= | CA1980172672 | AIP | c.1173C= c.677C= (p.Ala226=) n.1708C= c.469-131C= (n.469-131C=) c.497C= (p.Ala166=) c.866C= (p.Ala289=) c.*6C= (n.*6C=) c.689C= (p.Ala230=) c.686C= (p.Ala229=) | |
| 11 | g.67490866C>G | CA381554988 | AIP | c.1173C>G c.677C>G (p.Ala226Gly) n.1708C>G c.469-131C>G (n.469-131C>G) c.497C>G (p.Ala166Gly) c.866C>G (p.Ala289Gly) c.*6C>G (n.*6C>G) c.689C>G (p.Ala230Gly) c.686C>G (p.Ala229Gly) | |
| 11 | g.67490866C>T | CA381554985 | AIP | c.1173C>T c.677C>T (p.Ala226Val) n.1708C>T c.469-131C>T (n.469-131C>T) c.497C>T (p.Ala166Val) c.866C>T (p.Ala289Val) c.*6C>T (n.*6C>T) c.689C>T (p.Ala230Val) c.686C>T (p.Ala229Val) | ClinVar dbSNP |
| 11 | g.67490867C>A | CA6140993 | AIP | c.1174C>A c.678C>A (p.Ala226=) n.1709C>A c.469-130C>A (n.469-130C>A) c.498C>A (p.Ala166=) c.867C>A (p.Ala289=) c.*7C>A (n.*7C>A) c.690C>A (p.Ala230=) c.687C>A (p.Ala229=) | dbSNP ExAC gnomAD v2 |
| 11 | g.67490867C= | CA1980172673 | AIP | c.1174C= c.678C= (p.Ala226=) n.1709C= c.469-130C= (n.469-130C=) c.498C= (p.Ala166=) c.867C= (p.Ala289=) c.*7C= (n.*7C=) c.690C= (p.Ala230=) c.687C= (p.Ala229=) | |
| 11 | g.67490867C>G | CA475509549 | AIP | c.1174C>G c.678C>G (p.Ala226=) n.1709C>G c.469-130C>G (n.469-130C>G) c.498C>G (p.Ala166=) c.867C>G (p.Ala289=) c.*7C>G (n.*7C>G) c.690C>G (p.Ala230=) c.687C>G (p.Ala229=) | |
| 11 | g.67490867C>T | CA475509551 | AIP | c.1174C>T c.678C>T (p.Ala226=) n.1709C>T c.469-130C>T (n.469-130C>T) c.498C>T (p.Ala166=) c.867C>T (p.Ala289=) c.*7C>T (n.*7C>T) c.690C>T (p.Ala230=) c.687C>T (p.Ala229=) | gnomAD v4 |
| 11 | g.67490868A= | CA1980172674 | AIP | c.1175A= c.679A= (p.Lys227=) n.1710A= c.469-129A= (n.469-129A=) c.499A= (p.Lys167=) c.868A= (p.Lys290=) c.*8A= (n.*8A=) c.691A= (p.Lys231=) c.688A= (p.Lys230=) | |
| 11 | g.67490868A>C | CA381554997 | AIP | c.1175A>C c.679A>C (p.Lys227Gln) n.1710A>C c.469-129A>C (n.469-129A>C) c.499A>C (p.Lys167Gln) c.868A>C (p.Lys290Gln) c.*8A>C (n.*8A>C) c.691A>C (p.Lys231Gln) c.688A>C (p.Lys230Gln) | |
| 11 | g.67490868A>G | CA381555000 | AIP | c.1175A>G c.679A>G (p.Lys227Glu) n.1710A>G c.469-129A>G (n.469-129A>G) c.499A>G (p.Lys167Glu) c.868A>G (p.Lys290Glu) c.*8A>G (n.*8A>G) c.691A>G (p.Lys231Glu) c.688A>G (p.Lys230Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490868A>T | CA381555002 | AIP | c.1175A>T c.679A>T (p.Lys227Ter) n.1710A>T c.469-129A>T (n.469-129A>T) c.499A>T (p.Lys167Ter) c.868A>T (p.Lys290Ter) c.*8A>T (n.*8A>T) c.691A>T (p.Lys231Ter) c.688A>T (p.Lys230Ter) | |
| 11 | g.67490869A>C | CA381555004 | AIP | c.1176A>C c.680A>C (p.Lys227Thr) n.1711A>C c.469-128A>C (n.469-128A>C) c.500A>C (p.Lys167Thr) c.869A>C (p.Lys290Thr) c.*9A>C (n.*9A>C) c.692A>C (p.Lys231Thr) c.689A>C (p.Lys230Thr) | |
| 11 | g.67490869A>G | CA381555007 | AIP | c.1176A>G c.680A>G (p.Lys227Arg) n.1711A>G c.469-128A>G (n.469-128A>G) c.500A>G (p.Lys167Arg) c.869A>G (p.Lys290Arg) c.*9A>G (n.*9A>G) c.692A>G (p.Lys231Arg) c.689A>G (p.Lys230Arg) | ClinVar |
| 11 | g.67490869A>T | CA381555010 | AIP | c.1176A>T c.680A>T (p.Lys227Ile) n.1711A>T c.469-128A>T (n.469-128A>T) c.500A>T (p.Lys167Ile) c.869A>T (p.Lys290Ile) c.*9A>T (n.*9A>T) c.692A>T (p.Lys231Ile) c.689A>T (p.Lys230Ile) | |
| 11 | g.67490870A>C | CA381555014 | AIP | c.1177A>C c.681A>C (p.Lys227Asn) n.1712A>C c.469-127A>C (n.469-127A>C) c.501A>C (p.Lys167Asn) c.870A>C (p.Lys290Asn) c.*10A>C (n.*10A>C) c.693A>C (p.Lys231Asn) c.690A>C (p.Lys230Asn) | |
| 11 | g.67490870A>G | CA475509553 | AIP | c.1177A>G c.681A>G (p.Lys227=) n.1712A>G c.469-127A>G (n.469-127A>G) c.501A>G (p.Lys167=) c.870A>G (p.Lys290=) c.*10A>G (n.*10A>G) c.693A>G (p.Lys231=) c.690A>G (p.Lys230=) | gnomAD v3 gnomAD v4 |
| 11 | g.67490870A>T | CA381555016 | AIP | c.1177A>T c.681A>T (p.Lys227Asn) n.1712A>T c.469-127A>T (n.469-127A>T) c.501A>T (p.Lys167Asn) c.870A>T (p.Lys290Asn) c.*10A>T (n.*10A>T) c.693A>T (p.Lys231Asn) c.690A>T (p.Lys230Asn) | |
| 11 | g.67490871G>A | CA381555021 | AIP | c.1178G>A c.682G>A (p.Val228Met) n.1713G>A c.469-126G>A (n.469-126G>A) c.502G>A (p.Val168Met) c.871G>A (p.Val291Met) c.*11G>A (n.*11G>A) c.694G>A (p.Val232Met) c.691G>A (p.Val231Met) | |
| 11 | g.67490871G>C | CA381555026 | AIP | c.1178G>C c.682G>C (p.Val228Leu) n.1713G>C c.469-126G>C (n.469-126G>C) c.502G>C (p.Val168Leu) c.871G>C (p.Val291Leu) c.*11G>C (n.*11G>C) c.694G>C (p.Val232Leu) c.691G>C (p.Val231Leu) | |
| 11 | g.67490871G>T | CA381555030 | AIP | c.1178G>T c.682G>T (p.Val228Leu) n.1713G>T c.469-126G>T (n.469-126G>T) c.502G>T (p.Val168Leu) c.871G>T (p.Val291Leu) c.*11G>T (n.*11G>T) c.694G>T (p.Val232Leu) c.691G>T (p.Val231Leu) | |
| 11 | g.67490872_67490877del | CA2574896311 | AIP | c.1179_1184del c.683_688del (p.Val228_Leu229del) n.1714_1719del c.469-125_469-120del (n.469-125_469-120del) c.503_508del (p.Val168_Leu169del) c.872_877del (p.Val291_Leu292del) c.*12_*17del (n.*12_*17del) c.695_700del (p.Val232_Leu233del) c.692_697del (p.Val231_Leu232del) | |
| 11 | g.67490872T>A | CA381555035 | AIP | c.1179T>A c.683T>A (p.Val228Glu) n.1714T>A c.469-125T>A (n.469-125T>A) c.503T>A (p.Val168Glu) c.872T>A (p.Val291Glu) c.*12T>A (n.*12T>A) c.695T>A (p.Val232Glu) c.692T>A (p.Val231Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490872T>C | CA381555042 | AIP | c.1179T>C c.683T>C (p.Val228Ala) n.1714T>C c.469-125T>C (n.469-125T>C) c.503T>C (p.Val168Ala) c.872T>C (p.Val291Ala) c.*12T>C (n.*12T>C) c.695T>C (p.Val232Ala) c.692T>C (p.Val231Ala) | |
| 11 | g.67490872T>G | CA381555039 | AIP | c.1179T>G c.683T>G (p.Val228Gly) n.1714T>G c.469-125T>G (n.469-125T>G) c.503T>G (p.Val168Gly) c.872T>G (p.Val291Gly) c.*12T>G (n.*12T>G) c.695T>G (p.Val232Gly) c.692T>G (p.Val231Gly) | |
| 11 | g.67490872T= | CA1980172675 | AIP | c.1179T= c.683T= (p.Val228=) n.1714T= c.469-125T= (n.469-125T=) c.503T= (p.Val168=) c.872T= (p.Val291=) c.*12T= (n.*12T=) c.695T= (p.Val232=) c.692T= (p.Val231=) | |
| 11 | g.67490873G>A | CA475509555 | AIP | c.1180G>A c.684G>A (p.Val228=) n.1715G>A c.469-124G>A (n.469-124G>A) c.504G>A (p.Val168=) c.873G>A (p.Val291=) c.*13G>A (n.*13G>A) c.696G>A (p.Val232=) c.693G>A (p.Val231=) | |
| 11 | g.67490873G>C | CA475509556 | AIP | c.1180G>C c.684G>C (p.Val228=) n.1715G>C c.469-124G>C (n.469-124G>C) c.504G>C (p.Val168=) c.873G>C (p.Val291=) c.*13G>C (n.*13G>C) c.696G>C (p.Val232=) c.693G>C (p.Val231=) | |
| 11 | g.67490873G>T | CA475509558 | AIP | c.1180G>T c.684G>T (p.Val228=) n.1715G>T c.469-124G>T (n.469-124G>T) c.504G>T (p.Val168=) c.873G>T (p.Val291=) c.*13G>T (n.*13G>T) c.696G>T (p.Val232=) c.693G>T (p.Val231=) | |
| 11 | g.67490874del | CA2697548772 | AIP | c.1181del c.685del (p.Leu229TrpfsTer11) n.1716del c.469-123del (n.469-123del) c.505del (p.Leu169TrpfsTer11) c.874del (p.Leu292TrpfsTer11) c.*14del (n.*14del) c.697del (p.Leu233TrpfsTer11) c.694del (p.Leu232TrpfsTer11) c.685del (p.Leu229TrpfsTer?) | ClinVar |
| 11 | g.67490874C>A | CA381555046 | AIP | c.1181C>A c.685C>A (p.Leu229Met) n.1716C>A c.469-123C>A (n.469-123C>A) c.505C>A (p.Leu169Met) c.874C>A (p.Leu292Met) c.*14C>A (n.*14C>A) c.697C>A (p.Leu233Met) c.694C>A (p.Leu232Met) | |
| 11 | g.67490874C= | CA1980172676 | AIP | c.1181C= c.685C= (p.Leu229=) n.1716C= c.469-123C= (n.469-123C=) c.505C= (p.Leu169=) c.874C= (p.Leu292=) c.*14C= (n.*14C=) c.697C= (p.Leu233=) c.694C= (p.Leu232=) | |
| 11 | g.67490874C>G | CA6140994 | AIP | c.1181C>G c.685C>G (p.Leu229Val) n.1716C>G c.469-123C>G (n.469-123C>G) c.505C>G (p.Leu169Val) c.874C>G (p.Leu292Val) c.*14C>G (n.*14C>G) c.697C>G (p.Leu233Val) c.694C>G (p.Leu232Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490874C>T | CA475509561 | AIP | c.1181C>T c.685C>T (p.Leu229=) n.1716C>T c.469-123C>T (n.469-123C>T) c.505C>T (p.Leu169=) c.874C>T (p.Leu292=) c.*14C>T (n.*14C>T) c.697C>T (p.Leu233=) c.694C>T (p.Leu232=) | |
| 11 | g.67490875T>A | CA381555054 | AIP | c.1182T>A c.686T>A (p.Leu229Gln) n.1717T>A c.469-122T>A (n.469-122T>A) c.506T>A (p.Leu169Gln) c.875T>A (p.Leu292Gln) c.*15T>A (n.*15T>A) c.698T>A (p.Leu233Gln) c.695T>A (p.Leu232Gln) | |
| 11 | g.67490875T>C | CA381555056 | AIP | c.1182T>C c.686T>C (p.Leu229Pro) n.1717T>C c.469-122T>C (n.469-122T>C) c.506T>C (p.Leu169Pro) c.875T>C (p.Leu292Pro) c.*15T>C (n.*15T>C) c.698T>C (p.Leu233Pro) c.695T>C (p.Leu232Pro) | |
| 11 | g.67490875T>G | CA381555060 | AIP | c.1182T>G c.686T>G (p.Leu229Arg) n.1717T>G c.469-122T>G (n.469-122T>G) c.506T>G (p.Leu169Arg) c.875T>G (p.Leu292Arg) c.*15T>G (n.*15T>G) c.698T>G (p.Leu233Arg) c.695T>G (p.Leu232Arg) | |
| 11 | g.67490876G>A | CA475509562 | AIP | c.1183G>A c.687G>A (p.Leu229=) n.1718G>A c.469-121G>A (n.469-121G>A) c.507G>A (p.Leu169=) c.876G>A (p.Leu292=) c.*16G>A (n.*16G>A) c.699G>A (p.Leu233=) c.696G>A (p.Leu232=) | |
| 11 | g.67490876G>C | CA475509563 | AIP | c.1183G>C c.687G>C (p.Leu229=) n.1718G>C c.469-121G>C (n.469-121G>C) c.507G>C (p.Leu169=) c.876G>C (p.Leu292=) c.*16G>C (n.*16G>C) c.699G>C (p.Leu233=) c.696G>C (p.Leu232=) | |
| 11 | g.67490876G>T | CA475509565 | AIP | c.1183G>T c.687G>T (p.Leu229=) n.1718G>T c.469-121G>T (n.469-121G>T) c.507G>T (p.Leu169=) c.876G>T (p.Leu292=) c.*16G>T (n.*16G>T) c.699G>T (p.Leu233=) c.696G>T (p.Leu232=) | |
| 11 | g.67490877G>A | CA381555070 | AIP | c.1184G>A c.688G>A (p.Glu230Lys) n.1719G>A c.469-120G>A (n.469-120G>A) c.508G>A (p.Glu170Lys) c.877G>A (p.Glu293Lys) c.*17G>A (n.*17G>A) c.700G>A (p.Glu234Lys) c.697G>A (p.Glu233Lys) | |
| 11 | g.67490877G>C | CA381555068 | AIP | c.1184G>C c.688G>C (p.Glu230Gln) n.1719G>C c.469-120G>C (n.469-120G>C) c.508G>C (p.Glu170Gln) c.877G>C (p.Glu293Gln) c.*17G>C (n.*17G>C) c.700G>C (p.Glu234Gln) c.697G>C (p.Glu233Gln) | |
| 11 | g.67490877G>T | CA381555065 | AIP | c.1184G>T c.688G>T (p.Glu230Ter) n.1719G>T c.469-120G>T (n.469-120G>T) c.508G>T (p.Glu170Ter) c.877G>T (p.Glu293Ter) c.*17G>T (n.*17G>T) c.700G>T (p.Glu234Ter) c.697G>T (p.Glu233Ter) | |
| 11 | g.67490878A>C | CA381555079 | AIP | c.1185A>C c.689A>C (p.Glu230Ala) n.1720A>C c.469-119A>C (n.469-119A>C) c.509A>C (p.Glu170Ala) c.878A>C (p.Glu293Ala) c.*18A>C (n.*18A>C) c.701A>C (p.Glu234Ala) c.698A>C (p.Glu233Ala) | |
| 11 | g.67490878A>G | CA381555082 | AIP | c.1185A>G c.689A>G (p.Glu230Gly) n.1720A>G c.469-119A>G (n.469-119A>G) c.509A>G (p.Glu170Gly) c.878A>G (p.Glu293Gly) c.*18A>G (n.*18A>G) c.701A>G (p.Glu234Gly) c.698A>G (p.Glu233Gly) | |
| 11 | g.67490878A>T | CA381555087 | AIP | c.1185A>T c.689A>T (p.Glu230Val) n.1720A>T c.469-119A>T (n.469-119A>T) c.509A>T (p.Glu170Val) c.878A>T (p.Glu293Val) c.*18A>T (n.*18A>T) c.701A>T (p.Glu234Val) c.698A>T (p.Glu233Val) | |
| 11 | g.67490878_67490879delinsAG | CA1980172677 | AIP | c.1185_1186delinsAG c.689_690delinsAG (p.Glu230=) n.1720_1721delinsAG c.469-119_469-118delinsAG (n.469-119_469-118delinsAG) c.509_510delinsAG (p.Glu170=) c.878_879delinsAG (p.Glu293=) c.*18_*19delinsAG (n.*18_*19delinsAG) c.701_702delinsAG (p.Glu234=) c.698_699delinsAG (p.Glu233=) | |
| 11 | g.67490878_67490879delinsGT | CA356563 | AIP | c.1185_1186delinsGT c.689_690delinsGT (p.Glu230Gly) n.1720_1721delinsGT c.469-119_469-118delinsGT (n.469-119_469-118delinsGT) c.509_510delinsGT (p.Glu170Gly) c.878_879delinsGT (p.Glu293Gly) c.*18_*19delinsGT (n.*18_*19delinsGT) c.701_702delinsGT (p.Glu234Gly) c.698_699delinsGT (p.Glu233Gly) | ClinVar dbSNP |
| 11 | g.67490878_67490891delinsGT | CA2695214808 | AIP | c.1185_1198delinsGT c.689_702delinsGT (p.Glu230_Ala234delinsGly) n.1720_1733delinsGT c.469-119_469-106delinsGT (n.469-119_469-106delinsGT) c.509_522delinsGT (p.Glu170_Ala174delinsGly) c.878_891delinsGT (p.Glu293_Ala297delinsGly) c.*18_*31delinsGT (n.*18_*31delinsGT) c.701_714delinsGT (p.Glu234_Ala238delinsGly) c.698_711delinsGT (p.Glu233_Ala237delinsGly) | |
| 11 | g.67490879G>A | CA475509571 | AIP | c.1186G>A c.690G>A (p.Glu230=) n.1721G>A c.469-118G>A (n.469-118G>A) c.510G>A (p.Glu170=) c.879G>A (p.Glu293=) c.*19G>A (n.*19G>A) c.702G>A (p.Glu234=) c.699G>A (p.Glu233=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490879G>C | CA381555095 | AIP | c.1186G>C c.690G>C (p.Glu230Asp) n.1721G>C c.469-118G>C (n.469-118G>C) c.510G>C (p.Glu170Asp) c.879G>C (p.Glu293Asp) c.*19G>C (n.*19G>C) c.702G>C (p.Glu234Asp) c.699G>C (p.Glu233Asp) | |
| 11 | g.67490879G= | CA1980172678 | AIP | c.1186G= c.690G= (p.Glu230=) n.1721G= c.469-118G= (n.469-118G=) c.510G= (p.Glu170=) c.879G= (p.Glu293=) c.*19G= (n.*19G=) c.702G= (p.Glu234=) c.699G= (p.Glu233=) | |
| 11 | g.67490879G>T | CA381555100 | AIP | c.1186G>T c.690G>T (p.Glu230Asp) n.1721G>T c.469-118G>T (n.469-118G>T) c.510G>T (p.Glu170Asp) c.879G>T (p.Glu293Asp) c.*19G>T (n.*19G>T) c.702G>T (p.Glu234Asp) c.699G>T (p.Glu233Asp) | ClinVar |
| 11 | g.67490879_67490891delinsGCTGGACCCAGCC | CA1980172679 | AIP | c.1186_1198delinsGCTGGACCCAGCC c.690_702delinsGCTGGACCCAGCC (p.Glu230=) n.1721_1733delinsGCTGGACCCAGCC c.469-118_469-106delinsGCTGGACCCAGCC (n.469-118_469-106delinsGCTGGACCCAGCC) c.510_522delinsGCTGGACCCAGCC (p.Glu170=) c.879_891delinsGCTGGACCCAGCC (p.Glu293=) c.*19_*31delinsGCTGGACCCAGCC (n.*19_*31delinsGCTGGACCCAGCC) c.702_714delinsGCTGGACCCAGCC (p.Glu234=) c.699_711delinsGCTGGACCCAGCC (p.Glu233=) | |
| 11 | g.67490880C>A | CA381555103 | AIP | c.1187C>A c.691C>A (p.Leu231Met) n.1722C>A c.469-117C>A (n.469-117C>A) c.511C>A (p.Leu171Met) c.880C>A (p.Leu294Met) c.*20C>A (n.*20C>A) c.703C>A (p.Leu235Met) c.700C>A (p.Leu234Met) | ClinVar |
| 11 | g.67490880C>G | CA381555108 | AIP | c.1187C>G c.691C>G (p.Leu231Val) n.1722C>G c.469-117C>G (n.469-117C>G) c.511C>G (p.Leu171Val) c.880C>G (p.Leu294Val) c.*20C>G (n.*20C>G) c.703C>G (p.Leu235Val) c.700C>G (p.Leu234Val) | |
| 11 | g.67490880C>T | CA475509574 | AIP | c.1187C>T c.691C>T (p.Leu231=) n.1722C>T c.469-117C>T (n.469-117C>T) c.511C>T (p.Leu171=) c.880C>T (p.Leu294=) c.*20C>T (n.*20C>T) c.703C>T (p.Leu235=) c.700C>T (p.Leu234=) | |
| 11 | g.67490884_67490895del | CA356559 | AIP | c.1191_1202del c.695_706del (p.Asp232_Leu235del) n.1726_1737del c.469-113_469-102del (n.469-113_469-102del) c.515_526del (p.Asp172_Leu175del) c.884_895del (p.Asp295_Leu298del) c.*24_*35del (n.*24_*35del) c.707_718del (p.Asp236_Leu239del) c.704_715del (p.Asp235_Leu238del) | ClinVar dbSNP |
| 11 | g.67490881T>A | CA381555109 | AIP | c.1188T>A c.692T>A (p.Leu231Gln) n.1723T>A c.469-116T>A (n.469-116T>A) c.512T>A (p.Leu171Gln) c.881T>A (p.Leu294Gln) c.*21T>A (n.*21T>A) c.704T>A (p.Leu235Gln) c.701T>A (p.Leu234Gln) | |
| 11 | g.67490881T>C | CA381555110 | AIP | c.1188T>C c.692T>C (p.Leu231Pro) n.1723T>C c.469-116T>C (n.469-116T>C) c.512T>C (p.Leu171Pro) c.881T>C (p.Leu294Pro) c.*21T>C (n.*21T>C) c.704T>C (p.Leu235Pro) c.701T>C (p.Leu234Pro) | |
| 11 | g.67490881T>G | CA381555112 | AIP | c.1188T>G c.692T>G (p.Leu231Arg) n.1723T>G c.469-116T>G (n.469-116T>G) c.512T>G (p.Leu171Arg) c.881T>G (p.Leu294Arg) c.*21T>G (n.*21T>G) c.704T>G (p.Leu235Arg) c.701T>G (p.Leu234Arg) | |
| 11 | g.67490882G>A | CA475509580 | AIP | c.1189G>A c.693G>A (p.Leu231=) n.1724G>A c.469-115G>A (n.469-115G>A) c.513G>A (p.Leu171=) c.882G>A (p.Leu294=) c.*22G>A (n.*22G>A) c.705G>A (p.Leu235=) c.702G>A (p.Leu234=) | |
| 11 | g.67490882G>C | CA475509578 | AIP | c.1189G>C c.693G>C (p.Leu231=) n.1724G>C c.469-115G>C (n.469-115G>C) c.513G>C (p.Leu171=) c.882G>C (p.Leu294=) c.*22G>C (n.*22G>C) c.705G>C (p.Leu235=) c.702G>C (p.Leu234=) | |
| 11 | g.67490882G>T | CA475509579 | AIP | c.1189G>T c.693G>T (p.Leu231=) n.1724G>T c.469-115G>T (n.469-115G>T) c.513G>T (p.Leu171=) c.882G>T (p.Leu294=) c.*22G>T (n.*22G>T) c.705G>T (p.Leu235=) c.702G>T (p.Leu234=) | |
| 11 | g.67490883G>A | CA381555116 | AIP | c.1190G>A c.694G>A (p.Asp232Asn) n.1725G>A c.469-114G>A (n.469-114G>A) c.514G>A (p.Asp172Asn) c.883G>A (p.Asp295Asn) c.*23G>A (n.*23G>A) c.706G>A (p.Asp236Asn) c.703G>A (p.Asp235Asn) | gnomAD v4 |
| 11 | g.67490883G>C | CA381555118 | AIP | c.1190G>C c.694G>C (p.Asp232His) n.1725G>C c.469-114G>C (n.469-114G>C) c.514G>C (p.Asp172His) c.883G>C (p.Asp295His) c.*23G>C (n.*23G>C) c.706G>C (p.Asp236His) c.703G>C (p.Asp235His) | |
| 11 | g.67490883G>T | CA381555124 | AIP | c.1190G>T c.694G>T (p.Asp232Tyr) n.1725G>T c.469-114G>T (n.469-114G>T) c.514G>T (p.Asp172Tyr) c.883G>T (p.Asp295Tyr) c.*23G>T (n.*23G>T) c.706G>T (p.Asp236Tyr) c.703G>T (p.Asp235Tyr) | |
| 11 | g.67490884_67490889del | CA2739270611 | AIP | c.1191_1196del c.695_700del (p.Asp232_Pro233del) n.1726_1731del c.469-113_469-108del (n.469-113_469-108del) c.515_520del (p.Asp172_Pro173del) c.884_889del (p.Asp295_Pro296del) c.*24_*29del (n.*24_*29del) c.707_712del (p.Asp236_Pro237del) c.704_709del (p.Asp235_Pro236del) | ClinVar |
| 11 | g.67490884A= | CA1980172680 | AIP | c.1191A= c.695A= (p.Asp232=) n.1726A= c.469-113A= (n.469-113A=) c.515A= (p.Asp172=) c.884A= (p.Asp295=) c.*24A= (n.*24A=) c.707A= (p.Asp236=) c.704A= (p.Asp235=) | |
| 11 | g.67490884A>C | CA381555128 | AIP | c.1191A>C c.695A>C (p.Asp232Ala) n.1726A>C c.469-113A>C (n.469-113A>C) c.515A>C (p.Asp172Ala) c.884A>C (p.Asp295Ala) c.*24A>C (n.*24A>C) c.707A>C (p.Asp236Ala) c.704A>C (p.Asp235Ala) | |
| 11 | g.67490884A>G | CA381555132 | AIP | c.1191A>G c.695A>G (p.Asp232Gly) n.1726A>G c.469-113A>G (n.469-113A>G) c.515A>G (p.Asp172Gly) c.884A>G (p.Asp295Gly) c.*24A>G (n.*24A>G) c.707A>G (p.Asp236Gly) c.704A>G (p.Asp235Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490884A>T | CA381555134 | AIP | c.1191A>T c.695A>T (p.Asp232Val) n.1726A>T c.469-113A>T (n.469-113A>T) c.515A>T (p.Asp172Val) c.884A>T (p.Asp295Val) c.*24A>T (n.*24A>T) c.707A>T (p.Asp236Val) c.704A>T (p.Asp235Val) | |
| 11 | g.67490885C>A | CA381555136 | AIP | c.1192C>A c.696C>A (p.Asp232Glu) n.1727C>A c.469-112C>A (n.469-112C>A) c.516C>A (p.Asp172Glu) c.885C>A (p.Asp295Glu) c.*25C>A (n.*25C>A) c.708C>A (p.Asp236Glu) c.705C>A (p.Asp235Glu) | ClinVar |
| 11 | g.67490885C= | CA1980172681 | AIP | c.1192C= c.696C= (p.Asp232=) n.1727C= c.469-112C= (n.469-112C=) c.516C= (p.Asp172=) c.885C= (p.Asp295=) c.*25C= (n.*25C=) c.708C= (p.Asp236=) c.705C= (p.Asp235=) | |
| 11 | g.67490885C>G | CA381555137 | AIP | c.1192C>G c.696C>G (p.Asp232Glu) n.1727C>G c.469-112C>G (n.469-112C>G) c.516C>G (p.Asp172Glu) c.885C>G (p.Asp295Glu) c.*25C>G (n.*25C>G) c.708C>G (p.Asp236Glu) c.705C>G (p.Asp235Glu) | ClinVar dbSNP gnomAD v2 |
| 11 | g.67490885C>T | CA475509587 | AIP | c.1192C>T c.696C>T (p.Asp232=) n.1727C>T c.469-112C>T (n.469-112C>T) c.516C>T (p.Asp172=) c.885C>T (p.Asp295=) c.*25C>T (n.*25C>T) c.708C>T (p.Asp236=) c.705C>T (p.Asp235=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490886C>A | CA381555141 | AIP | c.1193C>A c.697C>A (p.Pro233Thr) n.1728C>A c.469-111C>A (n.469-111C>A) c.517C>A (p.Pro173Thr) c.886C>A (p.Pro296Thr) c.*26C>A (n.*26C>A) c.709C>A (p.Pro237Thr) c.706C>A (p.Pro236Thr) c.697C>A | |
| 11 | g.67490886C= | CA1980172682 | AIP | c.1193C= c.697C= (p.Pro233=) n.1728C= c.469-111C= (n.469-111C=) c.517C= (p.Pro173=) c.886C= (p.Pro296=) c.*26C= (n.*26C=) c.709C= (p.Pro237=) c.706C= (p.Pro236=) c.697C= | |
| 11 | g.67490886C>G | CA224165946 | AIP | c.1193C>G c.697C>G (p.Pro233Ala) n.1728C>G c.469-111C>G (n.469-111C>G) c.517C>G (p.Pro173Ala) c.886C>G (p.Pro296Ala) c.*26C>G (n.*26C>G) c.709C>G (p.Pro237Ala) c.706C>G (p.Pro236Ala) c.697C>G | ClinVar dbSNP |
| 11 | g.67490886C>T | CA381555143 | AIP | c.1193C>T c.697C>T (p.Pro233Ser) n.1728C>T c.469-111C>T (n.469-111C>T) c.517C>T (p.Pro173Ser) c.886C>T (p.Pro296Ser) c.*26C>T (n.*26C>T) c.709C>T (p.Pro237Ser) c.706C>T (p.Pro236Ser) c.697C>T | ClinVar dbSNP |
| 11 | g.67490887C>A | CA381555156 | AIP | c.1194C>A c.698C>A (p.Pro233Gln) n.1729C>A c.469-110C>A (n.469-110C>A) c.518C>A (p.Pro173Gln) c.887C>A (p.Pro296Gln) c.*27C>A (n.*27C>A) c.710C>A (p.Pro237Gln) c.707C>A (p.Pro236Gln) | ClinVar |
| 11 | g.67490887C>G | CA381555160 | AIP | c.1194C>G c.698C>G (p.Pro233Arg) n.1729C>G c.469-110C>G (n.469-110C>G) c.518C>G (p.Pro173Arg) c.887C>G (p.Pro296Arg) c.*27C>G (n.*27C>G) c.710C>G (p.Pro237Arg) c.707C>G (p.Pro236Arg) | |
| 11 | g.67490887C>T | CA381555158 | AIP | c.1194C>T c.698C>T (p.Pro233Leu) n.1729C>T c.469-110C>T (n.469-110C>T) c.518C>T (p.Pro173Leu) c.887C>T (p.Pro296Leu) c.*27C>T (n.*27C>T) c.710C>T (p.Pro237Leu) c.707C>T (p.Pro236Leu) | ClinVar |
| 11 | g.67490888A>C | CA475509590 | AIP | c.1195A>C c.699A>C (p.Pro233=) n.1730A>C c.469-109A>C (n.469-109A>C) c.519A>C (p.Pro173=) c.888A>C (p.Pro296=) c.*28A>C (n.*28A>C) c.711A>C (p.Pro237=) c.708A>C (p.Pro236=) | |
| 11 | g.67490888A>G | CA475509591 | AIP | c.1195A>G c.699A>G (p.Pro233=) n.1730A>G c.469-109A>G (n.469-109A>G) c.519A>G (p.Pro173=) c.888A>G (p.Pro296=) c.*28A>G (n.*28A>G) c.711A>G (p.Pro237=) c.708A>G (p.Pro236=) | |
| 11 | g.67490888A>T | CA475509592 | AIP | c.1195A>T c.699A>T (p.Pro233=) n.1730A>T c.469-109A>T (n.469-109A>T) c.519A>T (p.Pro173=) c.888A>T (p.Pro296=) c.*28A>T (n.*28A>T) c.711A>T (p.Pro237=) c.708A>T (p.Pro236=) | |
| 11 | g.67490889G>A | CA6140995 | AIP | c.1196G>A c.700G>A (p.Ala234Thr) n.1731G>A c.469-108G>A (n.469-108G>A) c.520G>A (p.Ala174Thr) c.889G>A (p.Ala297Thr) c.*29G>A (n.*29G>A) c.712G>A (p.Ala238Thr) c.709G>A (p.Ala237Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490889G>C | CA381555170 | AIP | c.1196G>C c.700G>C (p.Ala234Pro) n.1731G>C c.469-108G>C (n.469-108G>C) c.520G>C (p.Ala174Pro) c.889G>C (p.Ala297Pro) c.*29G>C (n.*29G>C) c.712G>C (p.Ala238Pro) c.709G>C (p.Ala237Pro) | |
| 11 | g.67490889G= | CA1980172683 | AIP | c.1196G= c.700G= (p.Ala234=) n.1731G= c.469-108G= (n.469-108G=) c.520G= (p.Ala174=) c.889G= (p.Ala297=) c.*29G= (n.*29G=) c.712G= (p.Ala238=) c.709G= (p.Ala237=) | |
| 11 | g.67490889G>T | CA381555174 | AIP | c.1196G>T c.700G>T (p.Ala234Ser) n.1731G>T c.469-108G>T (n.469-108G>T) c.520G>T (p.Ala174Ser) c.889G>T (p.Ala297Ser) c.*29G>T (n.*29G>T) c.712G>T (p.Ala238Ser) c.709G>T (p.Ala237Ser) | |
| 11 | g.67490890C>A | CA381555179 | AIP | c.1197C>A c.701C>A (p.Ala234Asp) n.1732C>A c.469-107C>A (n.469-107C>A) c.521C>A (p.Ala174Asp) c.890C>A (p.Ala297Asp) c.*30C>A (n.*30C>A) c.713C>A (p.Ala238Asp) c.710C>A (p.Ala237Asp) | |
| 11 | g.67490890C>G | CA381555181 | AIP | c.1197C>G c.701C>G (p.Ala234Gly) n.1732C>G c.469-107C>G (n.469-107C>G) c.521C>G (p.Ala174Gly) c.890C>G (p.Ala297Gly) c.*30C>G (n.*30C>G) c.713C>G (p.Ala238Gly) c.710C>G (p.Ala237Gly) | |
| 11 | g.67490890C>T | CA381555185 | AIP | c.1197C>T c.701C>T (p.Ala234Val) n.1732C>T c.469-107C>T (n.469-107C>T) c.521C>T (p.Ala174Val) c.890C>T (p.Ala297Val) c.*30C>T (n.*30C>T) c.713C>T (p.Ala238Val) c.710C>T (p.Ala237Val) | gnomAD v4 |
| 11 | g.67490891C>A | CA6140996 | AIP | c.1198C>A c.702C>A (p.Ala234=) n.1733C>A c.469-106C>A (n.469-106C>A) c.522C>A (p.Ala174=) c.891C>A (p.Ala297=) c.*31C>A (n.*31C>A) c.714C>A (p.Ala238=) c.711C>A (p.Ala237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490891C= | CA1980172684 | AIP | c.1198C= c.702C= (p.Ala234=) n.1733C= c.469-106C= (n.469-106C=) c.522C= (p.Ala174=) c.891C= (p.Ala297=) c.*31C= (n.*31C=) c.714C= (p.Ala238=) c.711C= (p.Ala237=) | |
| 11 | g.67490891C>G | CA475509601 | AIP | c.1198C>G c.702C>G (p.Ala234=) n.1733C>G c.469-106C>G (n.469-106C>G) c.522C>G (p.Ala174=) c.891C>G (p.Ala297=) c.*31C>G (n.*31C>G) c.714C>G (p.Ala238=) c.711C>G (p.Ala237=) | |
| 11 | g.67490891C>T | CA6140997 | AIP | c.1198C>T c.702C>T (p.Ala234=) n.1733C>T c.469-106C>T (n.469-106C>T) c.522C>T (p.Ala174=) c.891C>T (p.Ala297=) c.*31C>T (n.*31C>T) c.714C>T (p.Ala238=) c.711C>T (p.Ala237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490892C>A | CA381555197 | AIP | c.1199C>A c.703C>A (p.Leu235Met) n.1734C>A c.469-105C>A (n.469-105C>A) c.523C>A (p.Leu175Met) c.892C>A (p.Leu298Met) c.*32C>A (n.*32C>A) c.715C>A (p.Leu239Met) c.712C>A (p.Leu238Met) | |
| 11 | g.67490892C>G | CA381555201 | AIP | c.1199C>G c.703C>G (p.Leu235Val) n.1734C>G c.469-105C>G (n.469-105C>G) c.523C>G (p.Leu175Val) c.892C>G (p.Leu298Val) c.*32C>G (n.*32C>G) c.715C>G (p.Leu239Val) c.712C>G (p.Leu238Val) | |
| 11 | g.67490892C>T | CA475509605 | AIP | c.1199C>T c.703C>T (p.Leu235=) n.1734C>T c.469-105C>T (n.469-105C>T) c.523C>T (p.Leu175=) c.892C>T (p.Leu298=) c.*32C>T (n.*32C>T) c.715C>T (p.Leu239=) c.712C>T (p.Leu238=) | gnomAD v4 |
| 11 | g.67490893T>A | CA381555205 | AIP | c.1200T>A c.704T>A (p.Leu235Gln) n.1735T>A c.469-104T>A (n.469-104T>A) c.524T>A (p.Leu175Gln) c.893T>A (p.Leu298Gln) c.*33T>A (n.*33T>A) c.716T>A (p.Leu239Gln) c.713T>A (p.Leu238Gln) | |
| 11 | g.67490893T>C | CA381555207 | AIP | c.1200T>C c.704T>C (p.Leu235Pro) n.1735T>C c.469-104T>C (n.469-104T>C) c.524T>C (p.Leu175Pro) c.893T>C (p.Leu298Pro) c.*33T>C (n.*33T>C) c.716T>C (p.Leu239Pro) c.713T>C (p.Leu238Pro) | ClinVar dbSNP |
| 11 | g.67490893T>G | CA381555211 | AIP | c.1200T>G c.704T>G (p.Leu235Arg) n.1735T>G c.469-104T>G (n.469-104T>G) c.524T>G (p.Leu175Arg) c.893T>G (p.Leu298Arg) c.*33T>G (n.*33T>G) c.716T>G (p.Leu239Arg) c.713T>G (p.Leu238Arg) | |
| 11 | g.67490894G>A | CA475509606 | AIP | c.1201G>A c.705G>A (p.Leu235=) n.1736G>A c.469-103G>A (n.469-103G>A) c.525G>A (p.Leu175=) c.894G>A (p.Leu298=) c.*34G>A (n.*34G>A) c.717G>A (p.Leu239=) c.714G>A (p.Leu238=) | |
| 11 | g.67490894G>C | CA475509607 | AIP | c.1201G>C c.705G>C (p.Leu235=) n.1736G>C c.469-103G>C (n.469-103G>C) c.525G>C (p.Leu175=) c.894G>C (p.Leu298=) c.*34G>C (n.*34G>C) c.717G>C (p.Leu239=) c.714G>C (p.Leu238=) | |
| 11 | g.67490894G>T | CA475509608 | AIP | c.1201G>T c.705G>T (p.Leu235=) n.1736G>T c.469-103G>T (n.469-103G>T) c.525G>T (p.Leu175=) c.894G>T (p.Leu298=) c.*34G>T (n.*34G>T) c.717G>T (p.Leu239=) c.714G>T (p.Leu238=) | |
| 11 | g.67490895G>A | CA381555218 | AIP | c.1202G>A c.706G>A (p.Ala236Thr) n.1737G>A c.469-102G>A (n.469-102G>A) c.526G>A (p.Ala176Thr) c.895G>A (p.Ala299Thr) c.*35G>A (n.*35G>A) c.718G>A (p.Ala240Thr) c.715G>A (p.Ala239Thr) | ClinVar |
| 11 | g.67490895G>C | CA381555230 | AIP | c.1202G>C c.706G>C (p.Ala236Pro) n.1737G>C c.469-102G>C (n.469-102G>C) c.526G>C (p.Ala176Pro) c.895G>C (p.Ala299Pro) c.*35G>C (n.*35G>C) c.718G>C (p.Ala240Pro) c.715G>C (p.Ala239Pro) | |
| 11 | g.67490895G>T | CA381555222 | AIP | c.1202G>T c.706G>T (p.Ala236Ser) n.1737G>T c.469-102G>T (n.469-102G>T) c.526G>T (p.Ala176Ser) c.895G>T (p.Ala299Ser) c.*35G>T (n.*35G>T) c.718G>T (p.Ala240Ser) c.715G>T (p.Ala239Ser) | |
| 11 | g.67490896C>A | CA381555233 | AIP | c.1203C>A c.707C>A (p.Ala236Glu) n.1738C>A c.469-101C>A (n.469-101C>A) c.527C>A (p.Ala176Glu) c.896C>A (p.Ala299Glu) c.*36C>A (n.*36C>A) c.719C>A (p.Ala240Glu) c.716C>A (p.Ala239Glu) | gnomAD v4 |
| 11 | g.67490896C= | CA1980172685 | AIP | c.1203C= c.707C= (p.Ala236=) n.1738C= c.469-101C= (n.469-101C=) c.527C= (p.Ala176=) c.896C= (p.Ala299=) c.*36C= (n.*36C=) c.719C= (p.Ala240=) c.716C= (p.Ala239=) | |
| 11 | g.67490896C>G | CA381555238 | AIP | c.1203C>G c.707C>G (p.Ala236Gly) n.1738C>G c.469-101C>G (n.469-101C>G) c.527C>G (p.Ala176Gly) c.896C>G (p.Ala299Gly) c.*36C>G (n.*36C>G) c.719C>G (p.Ala240Gly) c.716C>G (p.Ala239Gly) | |
| 11 | g.67490896C>T | CA344210 | AIP | c.1203C>T c.707C>T (p.Ala236Val) n.1738C>T c.469-101C>T (n.469-101C>T) c.527C>T (p.Ala176Val) c.896C>T (p.Ala299Val) c.*36C>T (n.*36C>T) c.719C>T (p.Ala240Val) c.716C>T (p.Ala239Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490897G>A | CA475509613 | AIP | c.1204G>A c.708G>A (p.Ala236=) n.1739G>A c.469-100G>A (n.469-100G>A) c.528G>A (p.Ala176=) c.897G>A (p.Ala299=) c.*37G>A (n.*37G>A) c.720G>A (p.Ala240=) c.717G>A (p.Ala239=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490897G>C | CA475509614 | AIP | c.1204G>C c.708G>C (p.Ala236=) n.1739G>C c.469-100G>C (n.469-100G>C) c.528G>C (p.Ala176=) c.897G>C (p.Ala299=) c.*37G>C (n.*37G>C) c.720G>C (p.Ala240=) c.717G>C (p.Ala239=) | |
| 11 | g.67490897G= | CA1980172686 | AIP | c.1204G= c.708G= (p.Ala236=) n.1739G= c.469-100G= (n.469-100G=) c.528G= (p.Ala176=) c.897G= (p.Ala299=) c.*37G= (n.*37G=) c.720G= (p.Ala240=) c.717G= (p.Ala239=) | |
| 11 | g.67490897G>T | CA475509617 | AIP | c.1204G>T c.708G>T (p.Ala236=) n.1739G>T c.469-100G>T (n.469-100G>T) c.528G>T (p.Ala176=) c.897G>T (p.Ala299=) c.*37G>T (n.*37G>T) c.720G>T (p.Ala240=) c.717G>T (p.Ala239=) | |
| 11 | g.67490898C>A | CA381555244 | AIP | c.1205C>A c.709C>A (p.Pro237Thr) n.1740C>A c.469-99C>A (n.469-99C>A) c.529C>A (p.Pro177Thr) c.898C>A (p.Pro300Thr) c.*38C>A (n.*38C>A) c.721C>A (p.Pro241Thr) c.718C>A (p.Pro240Thr) | |
| 11 | g.67490898C>G | CA381555245 | AIP | c.1205C>G c.709C>G (p.Pro237Ala) n.1740C>G c.469-99C>G (n.469-99C>G) c.529C>G (p.Pro177Ala) c.898C>G (p.Pro300Ala) c.*38C>G (n.*38C>G) c.721C>G (p.Pro241Ala) c.718C>G (p.Pro240Ala) | |
| 11 | g.67490898C>T | CA381555248 | AIP | c.1205C>T c.709C>T (p.Pro237Ser) n.1740C>T c.469-99C>T (n.469-99C>T) c.529C>T (p.Pro177Ser) c.898C>T (p.Pro300Ser) c.*38C>T (n.*38C>T) c.721C>T (p.Pro241Ser) c.718C>T (p.Pro240Ser) | ClinVar gnomAD v4 |
| 11 | g.67490899C>A | CA381555252 | AIP | c.1206C>A c.710C>A (p.Pro237His) n.1741C>A c.469-98C>A (n.469-98C>A) c.530C>A (p.Pro177His) c.899C>A (p.Pro300His) c.*39C>A (n.*39C>A) c.722C>A (p.Pro241His) c.719C>A (p.Pro240His) | |
| 11 | g.67490899C>G | CA381555256 | AIP | c.1206C>G c.710C>G (p.Pro237Arg) n.1741C>G c.469-98C>G (n.469-98C>G) c.530C>G (p.Pro177Arg) c.899C>G (p.Pro300Arg) c.*39C>G (n.*39C>G) c.722C>G (p.Pro241Arg) c.719C>G (p.Pro240Arg) | |
| 11 | g.67490899C>T | CA381555259 | AIP | c.1206C>T c.710C>T (p.Pro237Leu) n.1741C>T c.469-98C>T (n.469-98C>T) c.530C>T (p.Pro177Leu) c.899C>T (p.Pro300Leu) c.*39C>T (n.*39C>T) c.722C>T (p.Pro241Leu) c.719C>T (p.Pro240Leu) | ClinVar dbSNP |
| 11 | g.67490900T>A | CA475509618 | AIP | c.1207T>A c.711T>A (p.Pro237=) n.1742T>A c.469-97T>A (n.469-97T>A) c.531T>A (p.Pro177=) c.900T>A (p.Pro300=) c.*40T>A (n.*40T>A) c.723T>A (p.Pro241=) c.720T>A (p.Pro240=) | |
| 11 | g.67490900T>C | CA475509619 | AIP | c.1207T>C c.711T>C (p.Pro237=) n.1742T>C c.469-97T>C (n.469-97T>C) c.531T>C (p.Pro177=) c.900T>C (p.Pro300=) c.*40T>C (n.*40T>C) c.723T>C (p.Pro241=) c.720T>C (p.Pro240=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490900T>G | CA475509620 | AIP | c.1207T>G c.711T>G (p.Pro237=) n.1742T>G c.469-97T>G (n.469-97T>G) c.531T>G (p.Pro177=) c.900T>G (p.Pro300=) c.*40T>G (n.*40T>G) c.723T>G (p.Pro241=) c.720T>G (p.Pro240=) | |
| 11 | g.67490901G>A | CA381555267 | AIP | c.1208G>A c.712G>A (p.Val238Met) n.1743G>A c.469-96G>A (n.469-96G>A) c.532G>A (p.Val178Met) c.901G>A (p.Val301Met) c.*41G>A (n.*41G>A) c.724G>A (p.Val242Met) c.721G>A (p.Val241Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490901G>C | CA381555265 | AIP | c.1208G>C c.712G>C (p.Val238Leu) n.1743G>C c.469-96G>C (n.469-96G>C) c.532G>C (p.Val178Leu) c.901G>C (p.Val301Leu) c.*41G>C (n.*41G>C) c.724G>C (p.Val242Leu) c.721G>C (p.Val241Leu) | |
| 11 | g.67490901G= | CA1980172687 | AIP | c.1208G= c.712G= (p.Val238=) n.1743G= c.469-96G= (n.469-96G=) c.532G= (p.Val178=) c.901G= (p.Val301=) c.*41G= (n.*41G=) c.724G= (p.Val242=) c.721G= (p.Val241=) | |
| 11 | g.67490901G>T | CA381555263 | AIP | c.1208G>T c.712G>T (p.Val238Leu) n.1743G>T c.469-96G>T (n.469-96G>T) c.532G>T (p.Val178Leu) c.901G>T (p.Val301Leu) c.*41G>T (n.*41G>T) c.724G>T (p.Val242Leu) c.721G>T (p.Val241Leu) | |
| 11 | g.67490902T>A | CA381555270 | AIP | c.1209T>A c.713T>A (p.Val238Glu) n.1744T>A c.469-95T>A (n.469-95T>A) c.533T>A (p.Val178Glu) c.902T>A (p.Val301Glu) c.*42T>A (n.*42T>A) c.725T>A (p.Val242Glu) c.722T>A (p.Val241Glu) | |
| 11 | g.67490902T>C | CA381555272 | AIP | c.1209T>C c.713T>C (p.Val238Ala) n.1744T>C c.469-95T>C (n.469-95T>C) c.533T>C (p.Val178Ala) c.902T>C (p.Val301Ala) c.*42T>C (n.*42T>C) c.725T>C (p.Val242Ala) c.722T>C (p.Val241Ala) | |
| 11 | g.67490902T>G | CA381555275 | AIP | c.1209T>G c.713T>G (p.Val238Gly) n.1744T>G c.469-95T>G (n.469-95T>G) c.533T>G (p.Val178Gly) c.902T>G (p.Val301Gly) c.*42T>G (n.*42T>G) c.725T>G (p.Val242Gly) c.722T>G (p.Val241Gly) | |
| 11 | g.67490903G>A | CA475509626 | AIP | c.1210G>A c.714G>A (p.Val238=) n.1745G>A c.469-94G>A (n.469-94G>A) c.534G>A (p.Val178=) c.903G>A (p.Val301=) c.*43G>A (n.*43G>A) c.726G>A (p.Val242=) c.723G>A (p.Val241=) | ClinVar gnomAD v4 |
| 11 | g.67490903G>C | CA475509628 | AIP | c.1210G>C c.714G>C (p.Val238=) n.1745G>C c.469-94G>C (n.469-94G>C) c.534G>C (p.Val178=) c.903G>C (p.Val301=) c.*43G>C (n.*43G>C) c.726G>C (p.Val242=) c.723G>C (p.Val241=) | gnomAD v3 gnomAD v4 |
| 11 | g.67490903G= | CA1980172688 | AIP | c.1210G= c.714G= (p.Val238=) n.1745G= c.469-94G= (n.469-94G=) c.534G= (p.Val178=) c.903G= (p.Val301=) c.*43G= (n.*43G=) c.726G= (p.Val242=) c.723G= (p.Val241=) | |
| 11 | g.67490903G>T | CA6140998 | AIP | c.1210G>T c.714G>T (p.Val238=) n.1745G>T c.469-94G>T (n.469-94G>T) c.534G>T (p.Val178=) c.903G>T (p.Val301=) c.*43G>T (n.*43G>T) c.726G>T (p.Val242=) c.723G>T (p.Val241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490904G>A | CA381555280 | AIP | c.1211G>A c.715G>A (p.Val239Met) n.1746G>A c.469-93G>A (n.469-93G>A) c.535G>A (p.Val179Met) c.904G>A (p.Val302Met) c.*44G>A (n.*44G>A) c.727G>A (p.Val243Met) c.724G>A (p.Val242Met) | dbSNP |
| 11 | g.67490904G>C | CA381555283 | AIP | c.1211G>C c.715G>C (p.Val239Leu) n.1746G>C c.469-93G>C (n.469-93G>C) c.535G>C (p.Val179Leu) c.904G>C (p.Val302Leu) c.*44G>C (n.*44G>C) c.727G>C (p.Val243Leu) c.724G>C (p.Val242Leu) | |
| 11 | g.67490904G= | CA1980172689 | AIP | c.1211G= c.715G= (p.Val239=) n.1746G= c.469-93G= (n.469-93G=) c.535G= (p.Val179=) c.904G= (p.Val302=) c.*44G= (n.*44G=) c.727G= (p.Val243=) c.724G= (p.Val242=) | |
| 11 | g.67490904G>T | CA381555285 | AIP | c.1211G>T c.715G>T (p.Val239Leu) n.1746G>T c.469-93G>T (n.469-93G>T) c.535G>T (p.Val179Leu) c.904G>T (p.Val302Leu) c.*44G>T (n.*44G>T) c.727G>T (p.Val243Leu) c.724G>T (p.Val242Leu) | |
| 11 | g.67490905T>A | CA381555288 | AIP | c.1212T>A c.716T>A (p.Val239Glu) n.1747T>A c.469-92T>A (n.469-92T>A) c.536T>A (p.Val179Glu) c.905T>A (p.Val302Glu) c.*45T>A (n.*45T>A) c.728T>A (p.Val243Glu) c.725T>A (p.Val242Glu) | |
| 11 | g.67490905T>C | CA6140999 | AIP | c.1212T>C c.716T>C (p.Val239Ala) n.1747T>C c.469-92T>C (n.469-92T>C) c.536T>C (p.Val179Ala) c.905T>C (p.Val302Ala) c.*45T>C (n.*45T>C) c.728T>C (p.Val243Ala) c.725T>C (p.Val242Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490905T>G | CA381555290 | AIP | c.1212T>G c.716T>G (p.Val239Gly) n.1747T>G c.469-92T>G (n.469-92T>G) c.536T>G (p.Val179Gly) c.905T>G (p.Val302Gly) c.*45T>G (n.*45T>G) c.728T>G (p.Val243Gly) c.725T>G (p.Val242Gly) | |
| 11 | g.67490905T= | CA1980172690 | AIP | c.1212T= c.716T= (p.Val239=) n.1747T= c.469-92T= (n.469-92T=) c.536T= (p.Val179=) c.905T= (p.Val302=) c.*45T= (n.*45T=) c.728T= (p.Val243=) c.725T= (p.Val242=) | |
| 11 | g.67490906G>A | CA6141000 | AIP | c.1213G>A c.717G>A (p.Val239=) n.1748G>A c.469-91G>A (n.469-91G>A) c.537G>A (p.Val179=) c.906G>A (p.Val302=) c.*46G>A (n.*46G>A) c.729G>A (p.Val243=) c.726G>A (p.Val242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490906G>C | CA475509634 | AIP | c.1213G>C c.717G>C (p.Val239=) n.1748G>C c.469-91G>C (n.469-91G>C) c.537G>C (p.Val179=) c.906G>C (p.Val302=) c.*46G>C (n.*46G>C) c.729G>C (p.Val243=) c.726G>C (p.Val242=) | |
| 11 | g.67490906G= | CA1980172691 | AIP | c.1213G= c.717G= (p.Val239=) n.1748G= c.469-91G= (n.469-91G=) c.537G= (p.Val179=) c.906G= (p.Val302=) c.*46G= (n.*46G=) c.729G= (p.Val243=) c.726G= (p.Val242=) | |
| 11 | g.67490906G>T | CA475509637 | AIP | c.1213G>T c.717G>T (p.Val239=) n.1748G>T c.469-91G>T (n.469-91G>T) c.537G>T (p.Val179=) c.906G>T (p.Val302=) c.*46G>T (n.*46G>T) c.729G>T (p.Val243=) c.726G>T (p.Val242=) | |
| 11 | g.67490907A>C | CA381555291 | AIP | c.1214A>C c.718A>C (p.Ser240Arg) n.1749A>C c.469-90A>C (n.469-90A>C) c.538A>C (p.Ser180Arg) c.907A>C (p.Ser303Arg) c.*47A>C (n.*47A>C) c.730A>C (p.Ser244Arg) c.727A>C (p.Ser243Arg) | |
| 11 | g.67490907A>G | CA381555293 | AIP | c.1214A>G c.718A>G (p.Ser240Gly) n.1749A>G c.469-90A>G (n.469-90A>G) c.538A>G (p.Ser180Gly) c.907A>G (p.Ser303Gly) c.*47A>G (n.*47A>G) c.730A>G (p.Ser244Gly) c.727A>G (p.Ser243Gly) | dbSNP gnomAD v4 |
| 11 | g.67490907A>T | CA381555295 | AIP | c.1214A>T c.718A>T (p.Ser240Cys) n.1749A>T c.469-90A>T (n.469-90A>T) c.538A>T (p.Ser180Cys) c.907A>T (p.Ser303Cys) c.*47A>T (n.*47A>T) c.730A>T (p.Ser244Cys) c.727A>T (p.Ser243Cys) | |
| 11 | g.67490908G>A | CA224165968 | AIP | c.1215G>A c.719G>A (p.Ser240Asn) n.1750G>A c.469-89G>A (n.469-89G>A) c.539G>A (p.Ser180Asn) c.908G>A (p.Ser303Asn) c.*48G>A (n.*48G>A) c.731G>A (p.Ser244Asn) c.728G>A (p.Ser243Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490908G>C | CA381555300 | AIP | c.1215G>C c.719G>C (p.Ser240Thr) n.1750G>C c.469-89G>C (n.469-89G>C) c.539G>C (p.Ser180Thr) c.908G>C (p.Ser303Thr) c.*48G>C (n.*48G>C) c.731G>C (p.Ser244Thr) c.728G>C (p.Ser243Thr) | |
| 11 | g.67490908G= | CA1980172692 | AIP | c.1215G= c.719G= (p.Ser240=) n.1750G= c.469-89G= (n.469-89G=) c.539G= (p.Ser180=) c.908G= (p.Ser303=) c.*48G= (n.*48G=) c.731G= (p.Ser244=) c.728G= (p.Ser243=) | |
| 11 | g.67490908G>T | CA381555298 | AIP | c.1215G>T c.719G>T (p.Ser240Ile) n.1750G>T c.469-89G>T (n.469-89G>T) c.539G>T (p.Ser180Ile) c.908G>T (p.Ser303Ile) c.*48G>T (n.*48G>T) c.731G>T (p.Ser244Ile) c.728G>T (p.Ser243Ile) | |
| 11 | g.67490909C>A | CA381555302 | AIP | c.1216C>A c.720C>A (p.Ser240Arg) n.1751C>A c.469-88C>A (n.469-88C>A) c.540C>A (p.Ser180Arg) c.909C>A (p.Ser303Arg) c.*49C>A (n.*49C>A) c.732C>A (p.Ser244Arg) c.729C>A (p.Ser243Arg) | |
| 11 | g.67490909C= | CA1980172693 | AIP | c.1216C= c.720C= (p.Ser240=) n.1751C= c.469-88C= (n.469-88C=) c.540C= (p.Ser180=) c.909C= (p.Ser303=) c.*49C= (n.*49C=) c.732C= (p.Ser244=) c.729C= (p.Ser243=) | |
| 11 | g.67490909C>G | CA381555303 | AIP | c.1216C>G c.720C>G (p.Ser240Arg) n.1751C>G c.469-88C>G (n.469-88C>G) c.540C>G (p.Ser180Arg) c.909C>G (p.Ser303Arg) c.*49C>G (n.*49C>G) c.732C>G (p.Ser244Arg) c.729C>G (p.Ser243Arg) | |
| 11 | g.67490909C>T | CA224165971 | AIP | c.1216C>T c.720C>T (p.Ser240=) n.1751C>T c.469-88C>T (n.469-88C>T) c.540C>T (p.Ser180=) c.909C>T (p.Ser303=) c.*49C>T (n.*49C>T) c.732C>T (p.Ser244=) c.729C>T (p.Ser243=) | dbSNP |
| 11 | g.67490910C>A | CA475509645 | AIP | c.1217C>A c.721C>A (p.Arg241=) n.1752C>A c.469-87C>A (n.469-87C>A) c.541C>A (p.Arg181=) c.910C>A (p.Arg304=) c.*50C>A (n.*50C>A) c.733C>A (p.Arg245=) c.730C>A (p.Arg244=) | |
| 11 | g.67490910C= | CA1980172694 | AIP | c.1217C= c.721C= (p.Arg241=) n.1752C= c.469-87C= (n.469-87C=) c.541C= (p.Arg181=) c.910C= (p.Arg304=) c.*50C= (n.*50C=) c.733C= (p.Arg245=) c.730C= (p.Arg244=) | |
| 11 | g.67490910C>G | CA6141001 | AIP | c.1217C>G c.721C>G (p.Arg241Gly) n.1752C>G c.469-87C>G (n.469-87C>G) c.541C>G (p.Arg181Gly) c.910C>G (p.Arg304Gly) c.*50C>G (n.*50C>G) c.733C>G (p.Arg245Gly) c.730C>G (p.Arg244Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490910C>T | CA340298 | AIP | c.1217C>T c.721C>T (p.Arg241Ter) n.1752C>T c.469-87C>T (n.469-87C>T) c.541C>T (p.Arg181Ter) c.910C>T (p.Arg304Ter) c.*50C>T (n.*50C>T) c.733C>T (p.Arg245Ter) c.730C>T (p.Arg244Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490911G>A | CA340308 | AIP | c.1218G>A c.722G>A (p.Arg241Gln) n.1753G>A c.469-86G>A (n.469-86G>A) c.542G>A (p.Arg181Gln) c.911G>A (p.Arg304Gln) c.*51G>A (n.*51G>A) c.734G>A (p.Arg245Gln) c.731G>A (p.Arg244Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490911G>C | CA381555307 | AIP | c.1218G>C c.722G>C (p.Arg241Pro) n.1753G>C c.469-86G>C (n.469-86G>C) c.542G>C (p.Arg181Pro) c.911G>C (p.Arg304Pro) c.*51G>C (n.*51G>C) c.734G>C (p.Arg245Pro) c.731G>C (p.Arg244Pro) | |
| 11 | g.67490911G= | CA1980172695 | AIP | c.1218G= c.722G= (p.Arg241=) n.1753G= c.469-86G= (n.469-86G=) c.542G= (p.Arg181=) c.911G= (p.Arg304=) c.*51G= (n.*51G=) c.734G= (p.Arg245=) c.731G= (p.Arg244=) | |
| 11 | g.67490911G>T | CA381555309 | AIP | c.1218G>T c.722G>T (p.Arg241Leu) n.1753G>T c.469-86G>T (n.469-86G>T) c.542G>T (p.Arg181Leu) c.911G>T (p.Arg304Leu) c.*51G>T (n.*51G>T) c.734G>T (p.Arg245Leu) c.731G>T (p.Arg244Leu) | |
| 11 | g.67490912A>C | CA475509652 | AIP | c.1219A>C c.723A>C (p.Arg241=) n.1754A>C c.469-85A>C (n.469-85A>C) c.543A>C (p.Arg181=) c.912A>C (p.Arg304=) c.*52A>C (n.*52A>C) c.735A>C (p.Arg245=) c.732A>C (p.Arg244=) | |
| 11 | g.67490912A>G | CA475509656 | AIP | c.1219A>G c.723A>G (p.Arg241=) n.1754A>G c.469-85A>G (n.469-85A>G) c.543A>G (p.Arg181=) c.912A>G (p.Arg304=) c.*52A>G (n.*52A>G) c.735A>G (p.Arg245=) c.732A>G (p.Arg244=) | |
| 11 | g.67490912A>T | CA475509654 | AIP | c.1219A>T c.723A>T (p.Arg241=) n.1754A>T c.469-85A>T (n.469-85A>T) c.543A>T (p.Arg181=) c.912A>T (p.Arg304=) c.*52A>T (n.*52A>T) c.735A>T (p.Arg245=) c.732A>T (p.Arg244=) | |
| 11 | g.67490913G>A | CA224165983 | AIP | c.1220G>A c.724G>A (p.Glu242Lys) n.1755G>A c.469-84G>A (n.469-84G>A) c.544G>A (p.Glu182Lys) c.913G>A (p.Glu305Lys) c.*53G>A (n.*53G>A) c.736G>A (p.Glu246Lys) c.733G>A (p.Glu245Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490913G>C | CA381555312 | AIP | c.1220G>C c.724G>C (p.Glu242Gln) n.1755G>C c.469-84G>C (n.469-84G>C) c.544G>C (p.Glu182Gln) c.913G>C (p.Glu305Gln) c.*53G>C (n.*53G>C) c.736G>C (p.Glu246Gln) c.733G>C (p.Glu245Gln) | gnomAD v4 |
| 11 | g.67490913G= | CA1980172696 | AIP | c.1220G= c.724G= (p.Glu242=) n.1755G= c.469-84G= (n.469-84G=) c.544G= (p.Glu182=) c.913G= (p.Glu305=) c.*53G= (n.*53G=) c.736G= (p.Glu246=) c.733G= (p.Glu245=) | |
| 11 | g.67490913G>T | CA381555314 | AIP | c.1220G>T c.724G>T (p.Glu242Ter) n.1755G>T c.469-84G>T (n.469-84G>T) c.544G>T (p.Glu182Ter) c.913G>T (p.Glu305Ter) c.*53G>T (n.*53G>T) c.736G>T (p.Glu246Ter) c.733G>T (p.Glu245Ter) | |
| 11 | g.67490914A>C | CA381555322 | AIP | c.1221A>C c.725A>C (p.Glu242Ala) n.1756A>C c.469-83A>C (n.469-83A>C) c.545A>C (p.Glu182Ala) c.914A>C (p.Glu305Ala) c.*54A>C (n.*54A>C) c.737A>C (p.Glu246Ala) c.734A>C (p.Glu245Ala) | |
| 11 | g.67490914A>G | CA381555319 | AIP | c.1221A>G c.725A>G (p.Glu242Gly) n.1756A>G c.469-83A>G (n.469-83A>G) c.545A>G (p.Glu182Gly) c.914A>G (p.Glu305Gly) c.*54A>G (n.*54A>G) c.737A>G (p.Glu246Gly) c.734A>G (p.Glu245Gly) | |
| 11 | g.67490914A>T | CA381555317 | AIP | c.1221A>T c.725A>T (p.Glu242Val) n.1756A>T c.469-83A>T (n.469-83A>T) c.545A>T (p.Glu182Val) c.914A>T (p.Glu305Val) c.*54A>T (n.*54A>T) c.737A>T (p.Glu246Val) c.734A>T (p.Glu245Val) | |
| 11 | g.67490915G>A | CA475509659 | AIP | c.1222G>A c.726G>A (p.Glu242=) n.1757G>A c.469-82G>A (n.469-82G>A) c.546G>A (p.Glu182=) c.915G>A (p.Glu305=) c.*55G>A (n.*55G>A) c.738G>A (p.Glu246=) c.735G>A (p.Glu245=) | gnomAD v4 |
| 11 | g.67490915G>C | CA381555325 | AIP | c.1222G>C c.726G>C (p.Glu242Asp) n.1757G>C c.469-82G>C (n.469-82G>C) c.546G>C (p.Glu182Asp) c.915G>C (p.Glu305Asp) c.*55G>C (n.*55G>C) c.738G>C (p.Glu246Asp) c.735G>C (p.Glu245Asp) | |
| 11 | g.67490915G>T | CA381555326 | AIP | c.1222G>T c.726G>T (p.Glu242Asp) n.1757G>T c.469-82G>T (n.469-82G>T) c.546G>T (p.Glu182Asp) c.915G>T (p.Glu305Asp) c.*55G>T (n.*55G>T) c.738G>T (p.Glu246Asp) c.735G>T (p.Glu245Asp) | |
| 11 | g.67490916C>A | CA381555333 | AIP | c.1223C>A c.727C>A (p.Leu243Met) n.1758C>A c.469-81C>A (n.469-81C>A) c.547C>A (p.Leu183Met) c.916C>A (p.Leu306Met) c.*56C>A (n.*56C>A) c.739C>A (p.Leu247Met) c.736C>A (p.Leu246Met) | |
| 11 | g.67490916C= | CA1980172697 | AIP | c.1223C= c.727C= (p.Leu243=) n.1758C= c.469-81C= (n.469-81C=) c.547C= (p.Leu183=) c.916C= (p.Leu306=) c.*56C= (n.*56C=) c.739C= (p.Leu247=) c.736C= (p.Leu246=) | |
| 11 | g.67490916C>G | CA381555336 | AIP | c.1223C>G c.727C>G (p.Leu243Val) n.1758C>G c.469-81C>G (n.469-81C>G) c.547C>G (p.Leu183Val) c.916C>G (p.Leu306Val) c.*56C>G (n.*56C>G) c.739C>G (p.Leu247Val) c.736C>G (p.Leu246Val) | |
| 11 | g.67490916C>T | CA224165985 | AIP | c.1223C>T c.727C>T (p.Leu243=) n.1758C>T c.469-81C>T (n.469-81C>T) c.547C>T (p.Leu183=) c.916C>T (p.Leu306=) c.*56C>T (n.*56C>T) c.739C>T (p.Leu247=) c.736C>T (p.Leu246=) | dbSNP |
| 11 | g.67490917T>A | CA381555339 | AIP | c.1224T>A c.728T>A (p.Leu243Gln) n.1759T>A c.469-80T>A (n.469-80T>A) c.548T>A (p.Leu183Gln) c.917T>A (p.Leu306Gln) c.*57T>A (n.*57T>A) c.740T>A (p.Leu247Gln) c.737T>A (p.Leu246Gln) | |
| 11 | g.67490917T>C | CA381555342 | AIP | c.1224T>C c.728T>C (p.Leu243Pro) n.1759T>C c.469-80T>C (n.469-80T>C) c.548T>C (p.Leu183Pro) c.917T>C (p.Leu306Pro) c.*57T>C (n.*57T>C) c.740T>C (p.Leu247Pro) c.737T>C (p.Leu246Pro) | ClinVar |
| 11 | g.67490917T>G | CA381555341 | AIP | c.1224T>G c.728T>G (p.Leu243Arg) n.1759T>G c.469-80T>G (n.469-80T>G) c.548T>G (p.Leu183Arg) c.917T>G (p.Leu306Arg) c.*57T>G (n.*57T>G) c.740T>G (p.Leu247Arg) c.737T>G (p.Leu246Arg) | |
| 11 | g.67490918G>A | CA475509666 | AIP | c.1225G>A c.729G>A (p.Leu243=) n.1760G>A c.469-79G>A (n.469-79G>A) c.549G>A (p.Leu183=) c.918G>A (p.Leu306=) c.*58G>A (n.*58G>A) c.741G>A (p.Leu247=) c.738G>A (p.Leu246=) | gnomAD v4 |
| 11 | g.67490918G>C | CA475509667 | AIP | c.1225G>C c.729G>C (p.Leu243=) n.1760G>C c.469-79G>C (n.469-79G>C) c.549G>C (p.Leu183=) c.918G>C (p.Leu306=) c.*58G>C (n.*58G>C) c.741G>C (p.Leu247=) c.738G>C (p.Leu246=) | |
| 11 | g.67490918G= | CA1980172698 | AIP | c.1225G= c.729G= (p.Leu243=) n.1760G= c.469-79G= (n.469-79G=) c.549G= (p.Leu183=) c.918G= (p.Leu306=) c.*58G= (n.*58G=) c.741G= (p.Leu247=) c.738G= (p.Leu246=) | |
| 11 | g.67490918G>T | CA475509668 | AIP | c.1225G>T c.729G>T (p.Leu243=) n.1760G>T c.469-79G>T (n.469-79G>T) c.549G>T (p.Leu183=) c.918G>T (p.Leu306=) c.*58G>T (n.*58G>T) c.741G>T (p.Leu247=) c.738G>T (p.Leu246=) | gnomAD v4 |
| 11 | g.67490919C>A | CA475509669 | AIP | c.1226C>A c.730C>A (p.Arg244=) n.1761C>A c.469-78C>A (n.469-78C>A) c.550C>A (p.Arg184=) c.919C>A (p.Arg307=) c.*59C>A (n.*59C>A) c.742C>A (p.Arg248=) c.739C>A (p.Arg247=) | ClinVar |
| 11 | g.67490919C= | CA1980172699 | AIP | c.1226C= c.730C= (p.Arg244=) n.1761C= c.469-78C= (n.469-78C=) c.550C= (p.Arg184=) c.919C= (p.Arg307=) c.*59C= (n.*59C=) c.742C= (p.Arg248=) c.739C= (p.Arg247=) | |
| 11 | g.67490919C>G | CA381555345 | AIP | c.1226C>G c.730C>G (p.Arg244Gly) n.1761C>G c.469-78C>G (n.469-78C>G) c.550C>G (p.Arg184Gly) c.919C>G (p.Arg307Gly) c.*59C>G (n.*59C>G) c.742C>G (p.Arg248Gly) c.739C>G (p.Arg247Gly) | ClinVar |
| 11 | g.67490919C>T | CA6141002 | AIP | c.1226C>T c.730C>T (p.Arg244Trp) n.1761C>T c.469-78C>T (n.469-78C>T) c.550C>T (p.Arg184Trp) c.919C>T (p.Arg307Trp) c.*59C>T (n.*59C>T) c.742C>T (p.Arg248Trp) c.739C>T (p.Arg247Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490919dup | CA344214 | AIP | c.1226dup c.730dup (p.Arg244ProfsTer?) n.1761dup c.469-78dup (n.469-78dup) c.550dup (p.Arg184ProfsTer?) c.919dup (p.Arg307ProfsTer?) c.*59dup (n.*59dup) c.742dup (p.Arg248ProfsTer?) c.739dup (p.Arg247ProfsTer?) | ClinVar dbSNP |
| 11 | g.67490920G>A | CA224165992 | AIP | c.1227G>A c.731G>A (p.Arg244Gln) n.1762G>A c.469-77G>A (n.469-77G>A) c.551G>A (p.Arg184Gln) c.920G>A (p.Arg307Gln) c.*60G>A (n.*60G>A) c.743G>A (p.Arg248Gln) c.740G>A (p.Arg247Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490920G>C | CA224165995 | AIP | c.1227G>C c.731G>C (p.Arg244Pro) n.1762G>C c.469-77G>C (n.469-77G>C) c.551G>C (p.Arg184Pro) c.920G>C (p.Arg307Pro) c.*60G>C (n.*60G>C) c.743G>C (p.Arg248Pro) c.740G>C (p.Arg247Pro) | ClinVar dbSNP |
| 11 | g.67490920G= | CA6141003 | AIP | c.1227G= c.731G= (p.Arg244=) n.1762G= c.469-77G= (n.469-77G=) c.551G= (p.Arg184=) c.920G= (p.Arg307=) c.*60G= (n.*60G=) c.743G= (p.Arg248=) c.740G= (p.Arg247=) | |
| 11 | g.67490920G>T | CA658682867 | AIP | c.1227G>T c.731G>T (p.Arg244Leu) n.1762G>T c.469-77G>T (n.469-77G>T) c.551G>T (p.Arg184Leu) c.920G>T (p.Arg307Leu) c.*60G>T (n.*60G>T) c.743G>T (p.Arg248Leu) c.740G>T (p.Arg247Leu) | dbSNP |
| 11 | g.67490922del | CA2614626552 | AIP | c.1229del c.733del (p.Ala245ProfsTer?) n.1764del c.469-75del (n.469-75del) c.553del (p.Ala185ProfsTer?) c.922del (p.Ala308ProfsTer?) c.*62del (n.*62del) c.745del (p.Ala249ProfsTer?) c.742del (p.Ala248ProfsTer?) | gnomAD v4 |
| 11 | g.67490921G>A | CA475509670 | AIP | c.1228G>A c.732G>A (p.Arg244=) n.1763G>A c.469-76G>A (n.469-76G>A) c.552G>A (p.Arg184=) c.921G>A (p.Arg307=) c.*61G>A (n.*61G>A) c.744G>A (p.Arg248=) c.741G>A (p.Arg247=) | ClinVar |
| 11 | g.67490921G>C | CA475509671 | AIP | c.1228G>C c.732G>C (p.Arg244=) n.1763G>C c.469-76G>C (n.469-76G>C) c.552G>C (p.Arg184=) c.921G>C (p.Arg307=) c.*61G>C (n.*61G>C) c.744G>C (p.Arg248=) c.741G>C (p.Arg247=) | ClinVar |
| 11 | g.67490921G>T | CA475509672 | AIP | c.1228G>T c.732G>T (p.Arg244=) n.1763G>T c.469-76G>T (n.469-76G>T) c.552G>T (p.Arg184=) c.921G>T (p.Arg307=) c.*61G>T (n.*61G>T) c.744G>T (p.Arg248=) c.741G>T (p.Arg247=) | ClinVar |
| 11 | g.67490922G>A | CA381555350 | AIP | c.1229G>A c.733G>A (p.Ala245Thr) n.1764G>A c.469-75G>A (n.469-75G>A) c.553G>A (p.Ala185Thr) c.922G>A (p.Ala308Thr) c.*62G>A (n.*62G>A) c.745G>A (p.Ala249Thr) c.742G>A (p.Ala248Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490922G>C | CA381555352 | AIP | c.1229G>C c.733G>C (p.Ala245Pro) n.1764G>C c.469-75G>C (n.469-75G>C) c.553G>C (p.Ala185Pro) c.922G>C (p.Ala308Pro) c.*62G>C (n.*62G>C) c.745G>C (p.Ala249Pro) c.742G>C (p.Ala248Pro) | |
| 11 | g.67490922G= | CA1980172700 | AIP | c.1229G= c.733G= (p.Ala245=) n.1764G= c.469-75G= (n.469-75G=) c.553G= (p.Ala185=) c.922G= (p.Ala308=) c.*62G= (n.*62G=) c.745G= (p.Ala249=) c.742G= (p.Ala248=) | |
| 11 | g.67490922G>T | CA381555354 | AIP | c.1229G>T c.733G>T (p.Ala245Ser) n.1764G>T c.469-75G>T (n.469-75G>T) c.553G>T (p.Ala185Ser) c.922G>T (p.Ala308Ser) c.*62G>T (n.*62G>T) c.745G>T (p.Ala249Ser) c.742G>T (p.Ala248Ser) | |
| 11 | g.67490923C>A | CA381555356 | AIP | c.1230C>A c.734C>A (p.Ala245Asp) n.1765C>A c.469-74C>A (n.469-74C>A) c.554C>A (p.Ala185Asp) c.923C>A (p.Ala308Asp) c.*63C>A (n.*63C>A) c.746C>A (p.Ala249Asp) c.743C>A (p.Ala248Asp) | |
| 11 | g.67490923C>G | CA381555358 | AIP | c.1230C>G c.734C>G (p.Ala245Gly) n.1765C>G c.469-74C>G (n.469-74C>G) c.554C>G (p.Ala185Gly) c.923C>G (p.Ala308Gly) c.*63C>G (n.*63C>G) c.746C>G (p.Ala249Gly) c.743C>G (p.Ala248Gly) | |
| 11 | g.67490923C>T | CA381555359 | AIP | c.1230C>T c.734C>T (p.Ala245Val) n.1765C>T c.469-74C>T (n.469-74C>T) c.554C>T (p.Ala185Val) c.923C>T (p.Ala308Val) c.*63C>T (n.*63C>T) c.746C>T (p.Ala249Val) c.743C>T (p.Ala248Val) | |
| 11 | g.67490924C>A | CA475509674 | AIP | c.1231C>A c.735C>A (p.Ala245=) n.1766C>A c.469-73C>A (n.469-73C>A) c.555C>A (p.Ala185=) c.924C>A (p.Ala308=) c.*64C>A (n.*64C>A) c.747C>A (p.Ala249=) c.744C>A (p.Ala248=) | |
| 11 | g.67490924C>G | CA475509676 | AIP | c.1231C>G c.735C>G (p.Ala245=) n.1766C>G c.469-73C>G (n.469-73C>G) c.555C>G (p.Ala185=) c.924C>G (p.Ala308=) c.*64C>G (n.*64C>G) c.747C>G (p.Ala249=) c.744C>G (p.Ala248=) | ClinVar gnomAD v4 |
| 11 | g.67490924C>T | CA475509675 | AIP | c.1231C>T c.735C>T (p.Ala245=) n.1766C>T c.469-73C>T (n.469-73C>T) c.555C>T (p.Ala185=) c.924C>T (p.Ala308=) c.*64C>T (n.*64C>T) c.747C>T (p.Ala249=) c.744C>T (p.Ala248=) | |
| 11 | g.67490925C>A | CA381555364 | AIP | c.1232C>A c.736C>A (p.Leu246Met) n.1767C>A c.469-72C>A (n.469-72C>A) c.556C>A (p.Leu186Met) c.925C>A (p.Leu309Met) c.*65C>A (n.*65C>A) c.748C>A (p.Leu250Met) c.745C>A (p.Leu249Met) | |
| 11 | g.67490925C= | CA1980172701 | AIP | c.1232C= c.736C= (p.Leu246=) n.1767C= c.469-72C= (n.469-72C=) c.556C= (p.Leu186=) c.925C= (p.Leu309=) c.*65C= (n.*65C=) c.748C= (p.Leu250=) c.745C= (p.Leu249=) | |
| 11 | g.67490925C>G | CA381555362 | AIP | c.1232C>G c.736C>G (p.Leu246Val) n.1767C>G c.469-72C>G (n.469-72C>G) c.556C>G (p.Leu186Val) c.925C>G (p.Leu309Val) c.*65C>G (n.*65C>G) c.748C>G (p.Leu250Val) c.745C>G (p.Leu249Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490925C>T | CA6141004 | AIP | c.1232C>T c.736C>T (p.Leu246=) n.1767C>T c.469-72C>T (n.469-72C>T) c.556C>T (p.Leu186=) c.925C>T (p.Leu309=) c.*65C>T (n.*65C>T) c.748C>T (p.Leu250=) c.745C>T (p.Leu249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490926T>A | CA381555366 | AIP | c.1233T>A c.737T>A (p.Leu246Gln) n.1768T>A c.469-71T>A (n.469-71T>A) c.557T>A (p.Leu186Gln) c.926T>A (p.Leu309Gln) c.*66T>A (n.*66T>A) c.749T>A (p.Leu250Gln) c.746T>A (p.Leu249Gln) | |
| 11 | g.67490926T>C | CA381555367 | AIP | c.1233T>C c.737T>C (p.Leu246Pro) n.1768T>C c.469-71T>C (n.469-71T>C) c.557T>C (p.Leu186Pro) c.926T>C (p.Leu309Pro) c.*66T>C (n.*66T>C) c.749T>C (p.Leu250Pro) c.746T>C (p.Leu249Pro) | ClinVar |
| 11 | g.67490926T>G | CA381555369 | AIP | c.1233T>G c.737T>G (p.Leu246Arg) n.1768T>G c.469-71T>G (n.469-71T>G) c.557T>G (p.Leu186Arg) c.926T>G (p.Leu309Arg) c.*66T>G (n.*66T>G) c.749T>G (p.Leu250Arg) c.746T>G (p.Leu249Arg) | |
| 11 | g.67490927G>A | CA475509684 | AIP | c.1234G>A c.738G>A (p.Leu246=) n.1769G>A c.469-70G>A (n.469-70G>A) c.558G>A (p.Leu186=) c.927G>A (p.Leu309=) c.*67G>A (n.*67G>A) c.750G>A (p.Leu250=) c.747G>A (p.Leu249=) | |
| 11 | g.67490927G>C | CA475509685 | AIP | c.1234G>C c.738G>C (p.Leu246=) n.1769G>C c.469-70G>C (n.469-70G>C) c.558G>C (p.Leu186=) c.927G>C (p.Leu309=) c.*67G>C (n.*67G>C) c.750G>C (p.Leu250=) c.747G>C (p.Leu249=) | |
| 11 | g.67490927G>T | CA475509686 | AIP | c.1234G>T c.738G>T (p.Leu246=) n.1769G>T c.469-70G>T (n.469-70G>T) c.558G>T (p.Leu186=) c.927G>T (p.Leu309=) c.*67G>T (n.*67G>T) c.750G>T (p.Leu250=) c.747G>T (p.Leu249=) | |
| 11 | g.67490928G>A | CA381555371 | AIP | c.1235G>A c.739G>A (p.Glu247Lys) n.1770G>A c.469-69G>A (n.469-69G>A) c.559G>A (p.Glu187Lys) c.928G>A (p.Glu310Lys) c.*68G>A (n.*68G>A) c.751G>A (p.Glu251Lys) c.748G>A (p.Glu250Lys) | |
| 11 | g.67490928G>C | CA381555373 | AIP | c.1235G>C c.739G>C (p.Glu247Gln) n.1770G>C c.469-69G>C (n.469-69G>C) c.559G>C (p.Glu187Gln) c.928G>C (p.Glu310Gln) c.*68G>C (n.*68G>C) c.751G>C (p.Glu251Gln) c.748G>C (p.Glu250Gln) | |
| 11 | g.67490928G>T | CA381555374 | AIP | c.1235G>T c.739G>T (p.Glu247Ter) n.1770G>T c.469-69G>T (n.469-69G>T) c.559G>T (p.Glu187Ter) c.928G>T (p.Glu310Ter) c.*68G>T (n.*68G>T) c.751G>T (p.Glu251Ter) c.748G>T (p.Glu250Ter) | ClinVar gnomAD v4 |
| 11 | g.67490929A>C | CA381555376 | AIP | c.1236A>C c.740A>C (p.Glu247Ala) n.1771A>C c.469-68A>C (n.469-68A>C) c.560A>C (p.Glu187Ala) c.929A>C (p.Glu310Ala) c.*69A>C (n.*69A>C) c.752A>C (p.Glu251Ala) c.749A>C (p.Glu250Ala) | |
| 11 | g.67490929A>G | CA381555378 | AIP | c.1236A>G c.740A>G (p.Glu247Gly) n.1771A>G c.469-68A>G (n.469-68A>G) c.560A>G (p.Glu187Gly) c.929A>G (p.Glu310Gly) c.*69A>G (n.*69A>G) c.752A>G (p.Glu251Gly) c.749A>G (p.Glu250Gly) | ClinVar |
| 11 | g.67490929A>T | CA381555380 | AIP | c.1236A>T c.740A>T (p.Glu247Val) n.1771A>T c.469-68A>T (n.469-68A>T) c.560A>T (p.Glu187Val) c.929A>T (p.Glu310Val) c.*69A>T (n.*69A>T) c.752A>T (p.Glu251Val) c.749A>T (p.Glu250Val) | |
| 11 | g.67490930G>A | CA475509690 | AIP | c.1237G>A c.741G>A (p.Glu247=) n.1772G>A c.469-67G>A (n.469-67G>A) c.561G>A (p.Glu187=) c.930G>A (p.Glu310=) c.*70G>A (n.*70G>A) c.753G>A (p.Glu251=) c.750G>A (p.Glu250=) | |
| 11 | g.67490930G>C | CA381555382 | AIP | c.1237G>C c.741G>C (p.Glu247Asp) n.1772G>C c.469-67G>C (n.469-67G>C) c.561G>C (p.Glu187Asp) c.930G>C (p.Glu310Asp) c.*70G>C (n.*70G>C) c.753G>C (p.Glu251Asp) c.750G>C (p.Glu250Asp) | |
| 11 | g.67490930G>T | CA381555384 | AIP | c.1237G>T c.741G>T (p.Glu247Asp) n.1772G>T c.469-67G>T (n.469-67G>T) c.561G>T (p.Glu187Asp) c.930G>T (p.Glu310Asp) c.*70G>T (n.*70G>T) c.753G>T (p.Glu251Asp) c.750G>T (p.Glu250Asp) | |
| 11 | g.67490931G>A | CA381555390 | AIP | c.1238G>A c.742G>A (p.Ala248Thr) n.1773G>A c.469-66G>A (n.469-66G>A) c.562G>A (p.Ala188Thr) c.931G>A (p.Ala311Thr) c.*71G>A (n.*71G>A) c.754G>A (p.Ala252Thr) c.751G>A (p.Ala251Thr) | |
| 11 | g.67490931G>C | CA381555388 | AIP | c.1238G>C c.742G>C (p.Ala248Pro) n.1773G>C c.469-66G>C (n.469-66G>C) c.562G>C (p.Ala188Pro) c.931G>C (p.Ala311Pro) c.*71G>C (n.*71G>C) c.754G>C (p.Ala252Pro) c.751G>C (p.Ala251Pro) | |
| 11 | g.67490931G>T | CA381555386 | AIP | c.1238G>T c.742G>T (p.Ala248Ser) n.1773G>T c.469-66G>T (n.469-66G>T) c.562G>T (p.Ala188Ser) c.931G>T (p.Ala311Ser) c.*71G>T (n.*71G>T) c.754G>T (p.Ala252Ser) c.751G>T (p.Ala251Ser) | |
| 11 | g.67490932C>A | CA381555392 | AIP | c.1239C>A c.743C>A (p.Ala248Glu) n.1774C>A c.469-65C>A (n.469-65C>A) c.563C>A (p.Ala188Glu) c.932C>A (p.Ala311Glu) c.*72C>A (n.*72C>A) c.755C>A (p.Ala252Glu) c.752C>A (p.Ala251Glu) | |
| 11 | g.67490932C>G | CA381555394 | AIP | c.1239C>G c.743C>G (p.Ala248Gly) n.1774C>G c.469-65C>G (n.469-65C>G) c.563C>G (p.Ala188Gly) c.932C>G (p.Ala311Gly) c.*72C>G (n.*72C>G) c.755C>G (p.Ala252Gly) c.752C>G (p.Ala251Gly) | |
| 11 | g.67490932C>T | CA381555395 | AIP | c.1239C>T c.743C>T (p.Ala248Val) n.1774C>T c.469-65C>T (n.469-65C>T) c.563C>T (p.Ala188Val) c.932C>T (p.Ala311Val) c.*72C>T (n.*72C>T) c.755C>T (p.Ala252Val) c.752C>T (p.Ala251Val) | |
| 11 | g.67490933A= | CA1980172702 | AIP | c.1240A= c.744A= (p.Ala248=) n.1775A= c.469-64A= (n.469-64A=) c.564A= (p.Ala188=) c.933A= (p.Ala311=) c.*73A= (n.*73A=) c.756A= (p.Ala252=) c.753A= (p.Ala251=) | |
| 11 | g.67490933A>C | CA475509694 | AIP | c.1240A>C c.744A>C (p.Ala248=) n.1775A>C c.469-64A>C (n.469-64A>C) c.564A>C (p.Ala188=) c.933A>C (p.Ala311=) c.*73A>C (n.*73A>C) c.756A>C (p.Ala252=) c.753A>C (p.Ala251=) | ClinVar |
| 11 | g.67490933A>G | CA475509695 | AIP | c.1240A>G c.744A>G (p.Ala248=) n.1775A>G c.469-64A>G (n.469-64A>G) c.564A>G (p.Ala188=) c.933A>G (p.Ala311=) c.*73A>G (n.*73A>G) c.756A>G (p.Ala252=) c.753A>G (p.Ala251=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490933A>T | CA475509696 | AIP | c.1240A>T c.744A>T (p.Ala248=) n.1775A>T c.469-64A>T (n.469-64A>T) c.564A>T (p.Ala188=) c.933A>T (p.Ala311=) c.*73A>T (n.*73A>T) c.756A>T (p.Ala252=) c.753A>T (p.Ala251=) | ClinVar |
| 11 | g.67490934C>A | CA475509698 | AIP | c.1241C>A c.745C>A (p.Arg249=) n.1776C>A c.469-63C>A (n.469-63C>A) c.565C>A (p.Arg189=) c.934C>A (p.Arg312=) c.*74C>A (n.*74C>A) c.757C>A (p.Arg253=) c.754C>A (p.Arg252=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490934C= | CA1980172703 | AIP | c.1241C= c.745C= (p.Arg249=) n.1776C= c.469-63C= (n.469-63C=) c.565C= (p.Arg189=) c.934C= (p.Arg312=) c.*74C= (n.*74C=) c.757C= (p.Arg253=) c.754C= (p.Arg252=) | |
| 11 | g.67490934C>G | CA381555396 | AIP | c.1241C>G c.745C>G (p.Arg249Gly) n.1776C>G c.469-63C>G (n.469-63C>G) c.565C>G (p.Arg189Gly) c.934C>G (p.Arg312Gly) c.*74C>G (n.*74C>G) c.757C>G (p.Arg253Gly) c.754C>G (p.Arg252Gly) | |
| 11 | g.67490934C>T | CA6141005 | AIP | c.1241C>T c.745C>T (p.Arg249Trp) n.1776C>T c.469-63C>T (n.469-63C>T) c.565C>T (p.Arg189Trp) c.934C>T (p.Arg312Trp) c.*74C>T (n.*74C>T) c.757C>T (p.Arg253Trp) c.754C>T (p.Arg252Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490935_67490939del | CA645577023 | AIP | c.1242_1246del c.746_750del (p.Arg249ProfsTer?) n.1777_1781del c.469-62_469-58del (n.469-62_469-58del) c.566_570del (p.Arg189ProfsTer?) c.935_939del (p.Arg312ProfsTer?) c.*75_*79del (n.*75_*79del) c.758_762del (p.Arg253ProfsTer?) c.755_759del (p.Arg252ProfsTer?) | COSMIC |
| 11 | g.67490935G>A | CA6141006 | AIP | c.1242G>A c.746G>A (p.Arg249Gln) n.1777G>A c.469-62G>A (n.469-62G>A) c.566G>A (p.Arg189Gln) c.935G>A (p.Arg312Gln) c.*75G>A (n.*75G>A) c.758G>A (p.Arg253Gln) c.755G>A (p.Arg252Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490935G>C | CA381555400 | AIP | c.1242G>C c.746G>C (p.Arg249Pro) n.1777G>C c.469-62G>C (n.469-62G>C) c.566G>C (p.Arg189Pro) c.935G>C (p.Arg312Pro) c.*75G>C (n.*75G>C) c.758G>C (p.Arg253Pro) c.755G>C (p.Arg252Pro) | |
| 11 | g.67490935G= | CA1980172704 | AIP | c.1242G= c.746G= (p.Arg249=) n.1777G= c.469-62G= (n.469-62G=) c.566G= (p.Arg189=) c.935G= (p.Arg312=) c.*75G= (n.*75G=) c.758G= (p.Arg253=) c.755G= (p.Arg252=) | |
| 11 | g.67490935G>T | CA381555402 | AIP | c.1242G>T c.746G>T (p.Arg249Leu) n.1777G>T c.469-62G>T (n.469-62G>T) c.566G>T (p.Arg189Leu) c.935G>T (p.Arg312Leu) c.*75G>T (n.*75G>T) c.758G>T (p.Arg253Leu) c.755G>T (p.Arg252Leu) | gnomAD v4 |
| 11 | g.67490936G>A | CA475509702 | AIP | c.1243G>A c.747G>A (p.Arg249=) n.1778G>A c.469-61G>A (n.469-61G>A) c.567G>A (p.Arg189=) c.936G>A (p.Arg312=) c.*76G>A (n.*76G>A) c.759G>A (p.Arg253=) c.756G>A (p.Arg252=) | ClinVar dbSNP gnomAD v2 |
| 11 | g.67490936G>C | CA475509703 | AIP | c.1243G>C c.747G>C (p.Arg249=) n.1778G>C c.469-61G>C (n.469-61G>C) c.567G>C (p.Arg189=) c.936G>C (p.Arg312=) c.*76G>C (n.*76G>C) c.759G>C (p.Arg253=) c.756G>C (p.Arg252=) | ClinVar gnomAD v4 |
| 11 | g.67490936G= | CA1980172705 | AIP | c.1243G= c.747G= (p.Arg249=) n.1778G= c.469-61G= (n.469-61G=) c.567G= (p.Arg189=) c.936G= (p.Arg312=) c.*76G= (n.*76G=) c.759G= (p.Arg253=) c.756G= (p.Arg252=) | |
| 11 | g.67490936G>T | CA475509704 | AIP | c.1243G>T c.747G>T (p.Arg249=) n.1778G>T c.469-61G>T (n.469-61G>T) c.567G>T (p.Arg189=) c.936G>T (p.Arg312=) c.*76G>T (n.*76G>T) c.759G>T (p.Arg253=) c.756G>T (p.Arg252=) | |
| 11 | g.67490937A= | CA1980172706 | AIP | c.1244A= c.748A= (p.Ile250=) n.1779A= c.469-60A= (n.469-60A=) c.568A= (p.Ile190=) c.937A= (p.Ile313=) c.*77A= (n.*77A=) c.760A= (p.Ile254=) c.757A= (p.Ile253=) | |
| 11 | g.67490937A>C | CA381555405 | AIP | c.1244A>C c.748A>C (p.Ile250Leu) n.1779A>C c.469-60A>C (n.469-60A>C) c.568A>C (p.Ile190Leu) c.937A>C (p.Ile313Leu) c.*77A>C (n.*77A>C) c.760A>C (p.Ile254Leu) c.757A>C (p.Ile253Leu) | |
| 11 | g.67490937A>G | CA381555406 | AIP | c.1244A>G c.748A>G (p.Ile250Val) n.1779A>G c.469-60A>G (n.469-60A>G) c.568A>G (p.Ile190Val) c.937A>G (p.Ile313Val) c.*77A>G (n.*77A>G) c.760A>G (p.Ile254Val) c.757A>G (p.Ile253Val) | dbSNP gnomAD v2 |
| 11 | g.67490937A>T | CA381555408 | AIP | c.1244A>T c.748A>T (p.Ile250Phe) n.1779A>T c.469-60A>T (n.469-60A>T) c.568A>T (p.Ile190Phe) c.937A>T (p.Ile313Phe) c.*77A>T (n.*77A>T) c.760A>T (p.Ile254Phe) c.757A>T (p.Ile253Phe) | gnomAD v4 |
| 11 | g.67490938T>A | CA381555415 | AIP | c.1245T>A c.749T>A (p.Ile250Asn) n.1780T>A c.469-59T>A (n.469-59T>A) c.569T>A (p.Ile190Asn) c.938T>A (p.Ile313Asn) c.*78T>A (n.*78T>A) c.761T>A (p.Ile254Asn) c.758T>A (p.Ile253Asn) | gnomAD v4 |
| 11 | g.67490938T>C | CA381555413 | AIP | c.1245T>C c.749T>C (p.Ile250Thr) n.1780T>C c.469-59T>C (n.469-59T>C) c.569T>C (p.Ile190Thr) c.938T>C (p.Ile313Thr) c.*78T>C (n.*78T>C) c.761T>C (p.Ile254Thr) c.758T>C (p.Ile253Thr) | |
| 11 | g.67490938T>G | CA381555411 | AIP | c.1245T>G c.749T>G (p.Ile250Ser) n.1780T>G c.469-59T>G (n.469-59T>G) c.569T>G (p.Ile190Ser) c.938T>G (p.Ile313Ser) c.*78T>G (n.*78T>G) c.761T>G (p.Ile254Ser) c.758T>G (p.Ile253Ser) | gnomAD v4 |
| 11 | g.67490939C>A | CA475509707 | AIP | c.1246C>A c.750C>A (p.Ile250=) n.1781C>A c.469-58C>A (n.469-58C>A) c.570C>A (p.Ile190=) c.939C>A (p.Ile313=) c.*79C>A (n.*79C>A) c.762C>A (p.Ile254=) c.759C>A (p.Ile253=) | |
| 11 | g.67490939C>G | CA381555417 | AIP | c.1246C>G c.750C>G (p.Ile250Met) n.1781C>G c.469-58C>G (n.469-58C>G) c.570C>G (p.Ile190Met) c.939C>G (p.Ile313Met) c.*79C>G (n.*79C>G) c.762C>G (p.Ile254Met) c.759C>G (p.Ile253Met) | ClinVar |
| 11 | g.67490939C>T | CA475509706 | AIP | c.1246C>T c.750C>T (p.Ile250=) n.1781C>T c.469-58C>T (n.469-58C>T) c.570C>T (p.Ile190=) c.939C>T (p.Ile313=) c.*79C>T (n.*79C>T) c.762C>T (p.Ile254=) c.759C>T (p.Ile253=) | |
| 11 | g.67490940C>A | CA475509709 | AIP | c.1247C>A c.751C>A (p.Arg251=) n.1782C>A c.469-57C>A (n.469-57C>A) c.571C>A (p.Arg191=) c.940C>A (p.Arg314=) c.*80C>A (n.*80C>A) c.763C>A (p.Arg255=) c.760C>A (p.Arg254=) | |
| 11 | g.67490940C= | CA1980172707 | AIP | c.1247C= c.751C= (p.Arg251=) n.1782C= c.469-57C= (n.469-57C=) c.571C= (p.Arg191=) c.940C= (p.Arg314=) c.*80C= (n.*80C=) c.763C= (p.Arg255=) c.760C= (p.Arg254=) | |
| 11 | g.67490940C>G | CA381555420 | AIP | c.1247C>G c.751C>G (p.Arg251Gly) n.1782C>G c.469-57C>G (n.469-57C>G) c.571C>G (p.Arg191Gly) c.940C>G (p.Arg314Gly) c.*80C>G (n.*80C>G) c.763C>G (p.Arg255Gly) c.760C>G (p.Arg254Gly) | |
| 11 | g.67490940C>T | CA6141007 | AIP | c.1247C>T c.751C>T (p.Arg251Trp) n.1782C>T c.469-57C>T (n.469-57C>T) c.571C>T (p.Arg191Trp) c.940C>T (p.Arg314Trp) c.*80C>T (n.*80C>T) c.763C>T (p.Arg255Trp) c.760C>T (p.Arg254Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |