WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42691987_42691996del | CA2628062089 | STARD9 | c.10409_10418del (p.Ala3470GlyfsTer?) c.2393_2402del (p.Ala798GlyfsTer?) c.10406_10415del (p.Ala3469GlyfsTer?) c.10376_10385del (p.Ala3459GlyfsTer?) c.10346_10355del (p.Ala3449GlyfsTer?) c.10268_10277del (p.Ala3423GlyfsTer?) c.10247_10256del (p.Ala3416GlyfsTer?) c.10157_10166del (p.Ala3386GlyfsTer?) c.9695_9704del (p.Ala3232GlyfsTer?) c.7889_7898del (p.Ala2630GlyfsTer?) n.10491_10500del c.10331_10340del (p.Ala3444GlyfsTer?) c.10190_10199del (p.Ala3397GlyfsTer?) n.10515_10524del | gnomAD v4 |
| 15 | g.42691989_42691996dup | CA2172853447 | STARD9 | c.10411_10418dup (p.Trp3473CysfsTer?) c.2395_2402dup (p.Trp801CysfsTer?) c.10408_10415dup (p.Trp3472CysfsTer?) c.10378_10385dup (p.Trp3462CysfsTer?) c.10348_10355dup (p.Trp3452CysfsTer?) c.10270_10277dup (p.Trp3426CysfsTer?) c.10249_10256dup (p.Trp3419CysfsTer?) c.10159_10166dup (p.Trp3389CysfsTer?) c.9697_9704dup (p.Trp3235CysfsTer?) c.7891_7898dup (p.Trp2633CysfsTer?) n.10493_10500dup c.10333_10340dup (p.Trp3447CysfsTer?) c.10192_10199dup (p.Trp3400CysfsTer?) n.10517_10524dup | dbSNP |
| 15 | g.42691990T>A | CA392076520 | STARD9 | c.10412T>A (p.Leu3471Gln) c.2396T>A (p.Leu799Gln) c.10409T>A (p.Leu3470Gln) c.10379T>A (p.Leu3460Gln) c.10349T>A (p.Leu3450Gln) c.10271T>A (p.Leu3424Gln) c.10250T>A (p.Leu3417Gln) c.10160T>A (p.Leu3387Gln) c.9698T>A (p.Leu3233Gln) c.7892T>A (p.Leu2631Gln) n.10494T>A c.10334T>A (p.Leu3445Gln) c.10193T>A (p.Leu3398Gln) n.10518T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42691990T>C | CA392076521 | STARD9 | c.10412T>C (p.Leu3471Pro) c.2396T>C (p.Leu799Pro) c.10409T>C (p.Leu3470Pro) c.10379T>C (p.Leu3460Pro) c.10349T>C (p.Leu3450Pro) c.10271T>C (p.Leu3424Pro) c.10250T>C (p.Leu3417Pro) c.10160T>C (p.Leu3387Pro) c.9698T>C (p.Leu3233Pro) c.7892T>C (p.Leu2631Pro) n.10494T>C c.10334T>C (p.Leu3445Pro) c.10193T>C (p.Leu3398Pro) n.10518T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42691990T>G | CA392076522 | STARD9 | c.10412T>G (p.Leu3471Arg) c.2396T>G (p.Leu799Arg) c.10409T>G (p.Leu3470Arg) c.10379T>G (p.Leu3460Arg) c.10349T>G (p.Leu3450Arg) c.10271T>G (p.Leu3424Arg) c.10250T>G (p.Leu3417Arg) c.10160T>G (p.Leu3387Arg) c.9698T>G (p.Leu3233Arg) c.7892T>G (p.Leu2631Arg) n.10494T>G c.10334T>G (p.Leu3445Arg) c.10193T>G (p.Leu3398Arg) n.10518T>G | |
| 15 | g.42691990T= | CA2172853454 | STARD9 | c.10412T= (p.Leu3471=) c.2396T= (p.Leu799=) c.10409T= (p.Leu3470=) c.10379T= (p.Leu3460=) c.10349T= (p.Leu3450=) c.10271T= (p.Leu3424=) c.10250T= (p.Leu3417=) c.10160T= (p.Leu3387=) c.9698T= (p.Leu3233=) c.7892T= (p.Leu2631=) n.10494T= c.10334T= (p.Leu3445=) c.10193T= (p.Leu3398=) n.10518T= | |
| 15 | g.42691991G>A | CA490009214 | STARD9 | c.10413G>A (p.Leu3471=) c.2397G>A (p.Leu799=) c.10410G>A (p.Leu3470=) c.10380G>A (p.Leu3460=) c.10350G>A (p.Leu3450=) c.10272G>A (p.Leu3424=) c.10251G>A (p.Leu3417=) c.10161G>A (p.Leu3387=) c.9699G>A (p.Leu3233=) c.7893G>A (p.Leu2631=) n.10495G>A c.10335G>A (p.Leu3445=) c.10194G>A (p.Leu3398=) n.10519G>A | |
| 15 | g.42691991G>C | CA490009217 | STARD9 | c.10413G>C (p.Leu3471=) c.2397G>C (p.Leu799=) c.10410G>C (p.Leu3470=) c.10380G>C (p.Leu3460=) c.10350G>C (p.Leu3450=) c.10272G>C (p.Leu3424=) c.10251G>C (p.Leu3417=) c.10161G>C (p.Leu3387=) c.9699G>C (p.Leu3233=) c.7893G>C (p.Leu2631=) n.10495G>C c.10335G>C (p.Leu3445=) c.10194G>C (p.Leu3398=) n.10519G>C | |
| 15 | g.42691991G>T | CA490009216 | STARD9 | c.10413G>T (p.Leu3471=) c.2397G>T (p.Leu799=) c.10410G>T (p.Leu3470=) c.10380G>T (p.Leu3460=) c.10350G>T (p.Leu3450=) c.10272G>T (p.Leu3424=) c.10251G>T (p.Leu3417=) c.10161G>T (p.Leu3387=) c.9699G>T (p.Leu3233=) c.7893G>T (p.Leu2631=) n.10495G>T c.10335G>T (p.Leu3445=) c.10194G>T (p.Leu3398=) n.10519G>T | |
| 15 | g.42691992C>A | CA392076524 | STARD9 | c.10414C>A (p.Pro3472Thr) c.2398C>A (p.Pro800Thr) c.10411C>A (p.Pro3471Thr) c.10381C>A (p.Pro3461Thr) c.10351C>A (p.Pro3451Thr) c.10273C>A (p.Pro3425Thr) c.10252C>A (p.Pro3418Thr) c.10162C>A (p.Pro3388Thr) c.9700C>A (p.Pro3234Thr) c.7894C>A (p.Pro2632Thr) n.10496C>A c.10336C>A (p.Pro3446Thr) c.10195C>A (p.Pro3399Thr) n.10520C>A | |
| 15 | g.42691992C>G | CA392076527 | STARD9 | c.10414C>G (p.Pro3472Ala) c.2398C>G (p.Pro800Ala) c.10411C>G (p.Pro3471Ala) c.10381C>G (p.Pro3461Ala) c.10351C>G (p.Pro3451Ala) c.10273C>G (p.Pro3425Ala) c.10252C>G (p.Pro3418Ala) c.10162C>G (p.Pro3388Ala) c.9700C>G (p.Pro3234Ala) c.7894C>G (p.Pro2632Ala) n.10496C>G c.10336C>G (p.Pro3446Ala) c.10195C>G (p.Pro3399Ala) n.10520C>G | |
| 15 | g.42691992C>T | CA392076525 | STARD9 | c.10414C>T (p.Pro3472Ser) c.2398C>T (p.Pro800Ser) c.10411C>T (p.Pro3471Ser) c.10381C>T (p.Pro3461Ser) c.10351C>T (p.Pro3451Ser) c.10273C>T (p.Pro3425Ser) c.10252C>T (p.Pro3418Ser) c.10162C>T (p.Pro3388Ser) c.9700C>T (p.Pro3234Ser) c.7894C>T (p.Pro2632Ser) n.10496C>T c.10336C>T (p.Pro3446Ser) c.10195C>T (p.Pro3399Ser) n.10520C>T | |
| 15 | g.42691993C>A | CA392076530 | STARD9 | c.10415C>A (p.Pro3472Gln) c.2399C>A (p.Pro800Gln) c.10412C>A (p.Pro3471Gln) c.10382C>A (p.Pro3461Gln) c.10352C>A (p.Pro3451Gln) c.10274C>A (p.Pro3425Gln) c.10253C>A (p.Pro3418Gln) c.10163C>A (p.Pro3388Gln) c.9701C>A (p.Pro3234Gln) c.7895C>A (p.Pro2632Gln) n.10497C>A c.10337C>A (p.Pro3446Gln) c.10196C>A (p.Pro3399Gln) n.10521C>A | COSMIC |
| 15 | g.42691993C= | CA2172853458 | STARD9 | c.10415C= (p.Pro3472=) c.2399C= (p.Pro800=) c.10412C= (p.Pro3471=) c.10382C= (p.Pro3461=) c.10352C= (p.Pro3451=) c.10274C= (p.Pro3425=) c.10253C= (p.Pro3418=) c.10163C= (p.Pro3388=) c.9701C= (p.Pro3234=) c.7895C= (p.Pro2632=) n.10497C= c.10337C= (p.Pro3446=) c.10196C= (p.Pro3399=) n.10521C= | |
| 15 | g.42691993C>G | CA392076534 | STARD9 | c.10415C>G (p.Pro3472Arg) c.2399C>G (p.Pro800Arg) c.10412C>G (p.Pro3471Arg) c.10382C>G (p.Pro3461Arg) c.10352C>G (p.Pro3451Arg) c.10274C>G (p.Pro3425Arg) c.10253C>G (p.Pro3418Arg) c.10163C>G (p.Pro3388Arg) c.9701C>G (p.Pro3234Arg) c.7895C>G (p.Pro2632Arg) n.10497C>G c.10337C>G (p.Pro3446Arg) c.10196C>G (p.Pro3399Arg) n.10521C>G | |
| 15 | g.42691993C>T | CA392076532 | STARD9 | c.10415C>T (p.Pro3472Leu) c.2399C>T (p.Pro800Leu) c.10412C>T (p.Pro3471Leu) c.10382C>T (p.Pro3461Leu) c.10352C>T (p.Pro3451Leu) c.10274C>T (p.Pro3425Leu) c.10253C>T (p.Pro3418Leu) c.10163C>T (p.Pro3388Leu) c.9701C>T (p.Pro3234Leu) c.7895C>T (p.Pro2632Leu) n.10497C>T c.10337C>T (p.Pro3446Leu) c.10196C>T (p.Pro3399Leu) n.10521C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.42691994G>A | CA7514737 | STARD9 | c.10416G>A (p.Pro3472=) c.2400G>A (p.Pro800=) c.10413G>A (p.Pro3471=) c.10383G>A (p.Pro3461=) c.10353G>A (p.Pro3451=) c.10275G>A (p.Pro3425=) c.10254G>A (p.Pro3418=) c.10164G>A (p.Pro3388=) c.9702G>A (p.Pro3234=) c.7896G>A (p.Pro2632=) n.10498G>A c.10338G>A (p.Pro3446=) c.10197G>A (p.Pro3399=) n.10522G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42691994G>C | CA490009219 | STARD9 | c.10416G>C (p.Pro3472=) c.2400G>C (p.Pro800=) c.10413G>C (p.Pro3471=) c.10383G>C (p.Pro3461=) c.10353G>C (p.Pro3451=) c.10275G>C (p.Pro3425=) c.10254G>C (p.Pro3418=) c.10164G>C (p.Pro3388=) c.9702G>C (p.Pro3234=) c.7896G>C (p.Pro2632=) n.10498G>C c.10338G>C (p.Pro3446=) c.10197G>C (p.Pro3399=) n.10522G>C | |
| 15 | g.42691994G= | CA2172853461 | STARD9 | c.10416G= (p.Pro3472=) c.2400G= (p.Pro800=) c.10413G= (p.Pro3471=) c.10383G= (p.Pro3461=) c.10353G= (p.Pro3451=) c.10275G= (p.Pro3425=) c.10254G= (p.Pro3418=) c.10164G= (p.Pro3388=) c.9702G= (p.Pro3234=) c.7896G= (p.Pro2632=) n.10498G= c.10338G= (p.Pro3446=) c.10197G= (p.Pro3399=) n.10522G= | |
| 15 | g.42691994G>T | CA269902848 | STARD9 | c.10416G>T (p.Pro3472=) c.2400G>T (p.Pro800=) c.10413G>T (p.Pro3471=) c.10383G>T (p.Pro3461=) c.10353G>T (p.Pro3451=) c.10275G>T (p.Pro3425=) c.10254G>T (p.Pro3418=) c.10164G>T (p.Pro3388=) c.9702G>T (p.Pro3234=) c.7896G>T (p.Pro2632=) n.10498G>T c.10338G>T (p.Pro3446=) c.10197G>T (p.Pro3399=) n.10522G>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42691995T>A | CA392076539 | STARD9 | c.10417T>A (p.Trp3473Arg) c.2401T>A (p.Trp801Arg) c.10414T>A (p.Trp3472Arg) c.10384T>A (p.Trp3462Arg) c.10354T>A (p.Trp3452Arg) c.10276T>A (p.Trp3426Arg) c.10255T>A (p.Trp3419Arg) c.10165T>A (p.Trp3389Arg) c.9703T>A (p.Trp3235Arg) c.7897T>A (p.Trp2633Arg) n.10499T>A c.10339T>A (p.Trp3447Arg) c.10198T>A (p.Trp3400Arg) n.10523T>A | |
| 15 | g.42691995T>C | CA392076542 | STARD9 | c.10417T>C (p.Trp3473Arg) c.2401T>C (p.Trp801Arg) c.10414T>C (p.Trp3472Arg) c.10384T>C (p.Trp3462Arg) c.10354T>C (p.Trp3452Arg) c.10276T>C (p.Trp3426Arg) c.10255T>C (p.Trp3419Arg) c.10165T>C (p.Trp3389Arg) c.9703T>C (p.Trp3235Arg) c.7897T>C (p.Trp2633Arg) n.10499T>C c.10339T>C (p.Trp3447Arg) c.10198T>C (p.Trp3400Arg) n.10523T>C | |
| 15 | g.42691995T>G | CA392076543 | STARD9 | c.10417T>G (p.Trp3473Gly) c.2401T>G (p.Trp801Gly) c.10414T>G (p.Trp3472Gly) c.10384T>G (p.Trp3462Gly) c.10354T>G (p.Trp3452Gly) c.10276T>G (p.Trp3426Gly) c.10255T>G (p.Trp3419Gly) c.10165T>G (p.Trp3389Gly) c.9703T>G (p.Trp3235Gly) c.7897T>G (p.Trp2633Gly) n.10499T>G c.10339T>G (p.Trp3447Gly) c.10198T>G (p.Trp3400Gly) n.10523T>G | |
| 15 | g.42691996G>A | CA392076545 | STARD9 | c.10418G>A (p.Trp3473Ter) c.2402G>A (p.Trp801Ter) c.10415G>A (p.Trp3472Ter) c.10385G>A (p.Trp3462Ter) c.10355G>A (p.Trp3452Ter) c.10277G>A (p.Trp3426Ter) c.10256G>A (p.Trp3419Ter) c.10166G>A (p.Trp3389Ter) c.9704G>A (p.Trp3235Ter) c.7898G>A (p.Trp2633Ter) n.10500G>A c.10340G>A (p.Trp3447Ter) c.10199G>A (p.Trp3400Ter) n.10524G>A | dbSNP gnomAD v2 |
| 15 | g.42691996G>C | CA392076551 | STARD9 | c.10418G>C (p.Trp3473Ser) c.2402G>C (p.Trp801Ser) c.10415G>C (p.Trp3472Ser) c.10385G>C (p.Trp3462Ser) c.10355G>C (p.Trp3452Ser) c.10277G>C (p.Trp3426Ser) c.10256G>C (p.Trp3419Ser) c.10166G>C (p.Trp3389Ser) c.9704G>C (p.Trp3235Ser) c.7898G>C (p.Trp2633Ser) n.10500G>C c.10340G>C (p.Trp3447Ser) c.10199G>C (p.Trp3400Ser) n.10524G>C | |
| 15 | g.42691996G= | CA2172853468 | STARD9 | c.10418G= (p.Trp3473=) c.2402G= (p.Trp801=) c.10415G= (p.Trp3472=) c.10385G= (p.Trp3462=) c.10355G= (p.Trp3452=) c.10277G= (p.Trp3426=) c.10256G= (p.Trp3419=) c.10166G= (p.Trp3389=) c.9704G= (p.Trp3235=) c.7898G= (p.Trp2633=) n.10500G= c.10340G= (p.Trp3447=) c.10199G= (p.Trp3400=) n.10524G= | |
| 15 | g.42691996G>T | CA392076553 | STARD9 | c.10418G>T (p.Trp3473Leu) c.2402G>T (p.Trp801Leu) c.10415G>T (p.Trp3472Leu) c.10385G>T (p.Trp3462Leu) c.10355G>T (p.Trp3452Leu) c.10277G>T (p.Trp3426Leu) c.10256G>T (p.Trp3419Leu) c.10166G>T (p.Trp3389Leu) c.9704G>T (p.Trp3235Leu) c.7898G>T (p.Trp2633Leu) n.10500G>T c.10340G>T (p.Trp3447Leu) c.10199G>T (p.Trp3400Leu) n.10524G>T | |
| 15 | g.42691997G>A | CA392076558 | STARD9 | c.10419G>A (p.Trp3473Ter) c.2403G>A (p.Trp801Ter) c.10416G>A (p.Trp3472Ter) c.10386G>A (p.Trp3462Ter) c.10356G>A (p.Trp3452Ter) c.10278G>A (p.Trp3426Ter) c.10257G>A (p.Trp3419Ter) c.10167G>A (p.Trp3389Ter) c.9705G>A (p.Trp3235Ter) c.7899G>A (p.Trp2633Ter) n.10501G>A c.10341G>A (p.Trp3447Ter) c.10200G>A (p.Trp3400Ter) n.10525G>A | |
| 15 | g.42691997G>C | CA392076559 | STARD9 | c.10419G>C (p.Trp3473Cys) c.2403G>C (p.Trp801Cys) c.10416G>C (p.Trp3472Cys) c.10386G>C (p.Trp3462Cys) c.10356G>C (p.Trp3452Cys) c.10278G>C (p.Trp3426Cys) c.10257G>C (p.Trp3419Cys) c.10167G>C (p.Trp3389Cys) c.9705G>C (p.Trp3235Cys) c.7899G>C (p.Trp2633Cys) n.10501G>C c.10341G>C (p.Trp3447Cys) c.10200G>C (p.Trp3400Cys) n.10525G>C | |
| 15 | g.42691997G>T | CA392076563 | STARD9 | c.10419G>T (p.Trp3473Cys) c.2403G>T (p.Trp801Cys) c.10416G>T (p.Trp3472Cys) c.10386G>T (p.Trp3462Cys) c.10356G>T (p.Trp3452Cys) c.10278G>T (p.Trp3426Cys) c.10257G>T (p.Trp3419Cys) c.10167G>T (p.Trp3389Cys) c.9705G>T (p.Trp3235Cys) c.7899G>T (p.Trp2633Cys) n.10501G>T c.10341G>T (p.Trp3447Cys) c.10200G>T (p.Trp3400Cys) n.10525G>T | |
| 15 | g.42691998C>A | CA392076568 | STARD9 | c.10420C>A (p.Arg3474Ser) c.2404C>A (p.Arg802Ser) c.10417C>A (p.Arg3473Ser) c.10387C>A (p.Arg3463Ser) c.10357C>A (p.Arg3453Ser) c.10279C>A (p.Arg3427Ser) c.10258C>A (p.Arg3420Ser) c.10168C>A (p.Arg3390Ser) c.9706C>A (p.Arg3236Ser) c.7900C>A (p.Arg2634Ser) n.10502C>A c.10342C>A (p.Arg3448Ser) c.10201C>A (p.Arg3401Ser) n.10526C>A | |
| 15 | g.42691998C= | CA2172853471 | STARD9 | c.10420C= (p.Arg3474=) c.2404C= (p.Arg802=) c.10417C= (p.Arg3473=) c.10387C= (p.Arg3463=) c.10357C= (p.Arg3453=) c.10279C= (p.Arg3427=) c.10258C= (p.Arg3420=) c.10168C= (p.Arg3390=) c.9706C= (p.Arg3236=) c.7900C= (p.Arg2634=) n.10502C= c.10342C= (p.Arg3448=) c.10201C= (p.Arg3401=) n.10526C= | |
| 15 | g.42691998C>G | CA392076565 | STARD9 | c.10420C>G (p.Arg3474Gly) c.2404C>G (p.Arg802Gly) c.10417C>G (p.Arg3473Gly) c.10387C>G (p.Arg3463Gly) c.10357C>G (p.Arg3453Gly) c.10279C>G (p.Arg3427Gly) c.10258C>G (p.Arg3420Gly) c.10168C>G (p.Arg3390Gly) c.9706C>G (p.Arg3236Gly) c.7900C>G (p.Arg2634Gly) n.10502C>G c.10342C>G (p.Arg3448Gly) c.10201C>G (p.Arg3401Gly) n.10526C>G | |
| 15 | g.42691998C>T | CA392076567 | STARD9 | c.10420C>T (p.Arg3474Cys) c.2404C>T (p.Arg802Cys) c.10417C>T (p.Arg3473Cys) c.10387C>T (p.Arg3463Cys) c.10357C>T (p.Arg3453Cys) c.10279C>T (p.Arg3427Cys) c.10258C>T (p.Arg3420Cys) c.10168C>T (p.Arg3390Cys) c.9706C>T (p.Arg3236Cys) c.7900C>T (p.Arg2634Cys) n.10502C>T c.10342C>T (p.Arg3448Cys) c.10201C>T (p.Arg3401Cys) n.10526C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42691999G>A | CA269902852 | STARD9 | c.10421G>A (p.Arg3474His) c.2405G>A (p.Arg802His) c.10418G>A (p.Arg3473His) c.10388G>A (p.Arg3463His) c.10358G>A (p.Arg3453His) c.10280G>A (p.Arg3427His) c.10259G>A (p.Arg3420His) c.10169G>A (p.Arg3390His) c.9707G>A (p.Arg3236His) c.7901G>A (p.Arg2634His) n.10503G>A c.10343G>A (p.Arg3448His) c.10202G>A (p.Arg3401His) n.10527G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42691999G>C | CA392076574 | STARD9 | c.10421G>C (p.Arg3474Pro) c.2405G>C (p.Arg802Pro) c.10418G>C (p.Arg3473Pro) c.10388G>C (p.Arg3463Pro) c.10358G>C (p.Arg3453Pro) c.10280G>C (p.Arg3427Pro) c.10259G>C (p.Arg3420Pro) c.10169G>C (p.Arg3390Pro) c.9707G>C (p.Arg3236Pro) c.7901G>C (p.Arg2634Pro) n.10503G>C c.10343G>C (p.Arg3448Pro) c.10202G>C (p.Arg3401Pro) n.10527G>C | |
| 15 | g.42691999G= | CA2172853474 | STARD9 | c.10421G= (p.Arg3474=) c.2405G= (p.Arg802=) c.10418G= (p.Arg3473=) c.10388G= (p.Arg3463=) c.10358G= (p.Arg3453=) c.10280G= (p.Arg3427=) c.10259G= (p.Arg3420=) c.10169G= (p.Arg3390=) c.9707G= (p.Arg3236=) c.7901G= (p.Arg2634=) n.10503G= c.10343G= (p.Arg3448=) c.10202G= (p.Arg3401=) n.10527G= | |
| 15 | g.42691999G>T | CA392076577 | STARD9 | c.10421G>T (p.Arg3474Leu) c.2405G>T (p.Arg802Leu) c.10418G>T (p.Arg3473Leu) c.10388G>T (p.Arg3463Leu) c.10358G>T (p.Arg3453Leu) c.10280G>T (p.Arg3427Leu) c.10259G>T (p.Arg3420Leu) c.10169G>T (p.Arg3390Leu) c.9707G>T (p.Arg3236Leu) c.7901G>T (p.Arg2634Leu) n.10503G>T c.10343G>T (p.Arg3448Leu) c.10202G>T (p.Arg3401Leu) n.10527G>T | gnomAD v4 |
| 15 | g.42692000T>A | CA490009227 | STARD9 | c.10422T>A (p.Arg3474=) c.2406T>A (p.Arg802=) c.10419T>A (p.Arg3473=) c.10389T>A (p.Arg3463=) c.10359T>A (p.Arg3453=) c.10281T>A (p.Arg3427=) c.10260T>A (p.Arg3420=) c.10170T>A (p.Arg3390=) c.9708T>A (p.Arg3236=) c.7902T>A (p.Arg2634=) n.10504T>A c.10344T>A (p.Arg3448=) c.10203T>A (p.Arg3401=) n.10528T>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42692000T>C | CA490009228 | STARD9 | c.10422T>C (p.Arg3474=) c.2406T>C (p.Arg802=) c.10419T>C (p.Arg3473=) c.10389T>C (p.Arg3463=) c.10359T>C (p.Arg3453=) c.10281T>C (p.Arg3427=) c.10260T>C (p.Arg3420=) c.10170T>C (p.Arg3390=) c.9708T>C (p.Arg3236=) c.7902T>C (p.Arg2634=) n.10504T>C c.10344T>C (p.Arg3448=) c.10203T>C (p.Arg3401=) n.10528T>C | |
| 15 | g.42692000T>G | CA490009229 | STARD9 | c.10422T>G (p.Arg3474=) c.2406T>G (p.Arg802=) c.10419T>G (p.Arg3473=) c.10389T>G (p.Arg3463=) c.10359T>G (p.Arg3453=) c.10281T>G (p.Arg3427=) c.10260T>G (p.Arg3420=) c.10170T>G (p.Arg3390=) c.9708T>G (p.Arg3236=) c.7902T>G (p.Arg2634=) n.10504T>G c.10344T>G (p.Arg3448=) c.10203T>G (p.Arg3401=) n.10528T>G | |
| 15 | g.42692000T= | CA2172853477 | STARD9 | c.10422T= (p.Arg3474=) c.2406T= (p.Arg802=) c.10419T= (p.Arg3473=) c.10389T= (p.Arg3463=) c.10359T= (p.Arg3453=) c.10281T= (p.Arg3427=) c.10260T= (p.Arg3420=) c.10170T= (p.Arg3390=) c.9708T= (p.Arg3236=) c.7902T= (p.Arg2634=) n.10504T= c.10344T= (p.Arg3448=) c.10203T= (p.Arg3401=) n.10528T= | |
| 15 | g.42692001C>A | CA392076580 | STARD9 | c.10423C>A (p.Pro3475Thr) c.2407C>A (p.Pro803Thr) c.10420C>A (p.Pro3474Thr) c.10390C>A (p.Pro3464Thr) c.10360C>A (p.Pro3454Thr) c.10282C>A (p.Pro3428Thr) c.10261C>A (p.Pro3421Thr) c.10171C>A (p.Pro3391Thr) c.9709C>A (p.Pro3237Thr) c.7903C>A (p.Pro2635Thr) n.10505C>A c.10345C>A (p.Pro3449Thr) c.10204C>A (p.Pro3402Thr) n.10529C>A | |
| 15 | g.42692001C>G | CA392076583 | STARD9 | c.10423C>G (p.Pro3475Ala) c.2407C>G (p.Pro803Ala) c.10420C>G (p.Pro3474Ala) c.10390C>G (p.Pro3464Ala) c.10360C>G (p.Pro3454Ala) c.10282C>G (p.Pro3428Ala) c.10261C>G (p.Pro3421Ala) c.10171C>G (p.Pro3391Ala) c.9709C>G (p.Pro3237Ala) c.7903C>G (p.Pro2635Ala) n.10505C>G c.10345C>G (p.Pro3449Ala) c.10204C>G (p.Pro3402Ala) n.10529C>G | |
| 15 | g.42692001C>T | CA392076585 | STARD9 | c.10423C>T (p.Pro3475Ser) c.2407C>T (p.Pro803Ser) c.10420C>T (p.Pro3474Ser) c.10390C>T (p.Pro3464Ser) c.10360C>T (p.Pro3454Ser) c.10282C>T (p.Pro3428Ser) c.10261C>T (p.Pro3421Ser) c.10171C>T (p.Pro3391Ser) c.9709C>T (p.Pro3237Ser) c.7903C>T (p.Pro2635Ser) n.10505C>T c.10345C>T (p.Pro3449Ser) c.10204C>T (p.Pro3402Ser) n.10529C>T | |
| 15 | g.42692002C>A | CA392076589 | STARD9 | c.10424C>A (p.Pro3475Gln) c.2408C>A (p.Pro803Gln) c.10421C>A (p.Pro3474Gln) c.10391C>A (p.Pro3464Gln) c.10361C>A (p.Pro3454Gln) c.10283C>A (p.Pro3428Gln) c.10262C>A (p.Pro3421Gln) c.10172C>A (p.Pro3391Gln) c.9710C>A (p.Pro3237Gln) c.7904C>A (p.Pro2635Gln) n.10506C>A c.10346C>A (p.Pro3449Gln) c.10205C>A (p.Pro3402Gln) n.10530C>A | |
| 15 | g.42692002C= | CA2172847472 | STARD9 | c.10424C= (p.Pro3475=) c.2408C= (p.Pro803=) c.10421C= (p.Pro3474=) c.10391C= (p.Pro3464=) c.10361C= (p.Pro3454=) c.10283C= (p.Pro3428=) c.10262C= (p.Pro3421=) c.10172C= (p.Pro3391=) c.9710C= (p.Pro3237=) c.7904C= (p.Pro2635=) n.10506C= c.10346C= (p.Pro3449=) c.10205C= (p.Pro3402=) n.10530C= | |
| 15 | g.42692002C>G | CA392076593 | STARD9 | c.10424C>G (p.Pro3475Arg) c.2408C>G (p.Pro803Arg) c.10421C>G (p.Pro3474Arg) c.10391C>G (p.Pro3464Arg) c.10361C>G (p.Pro3454Arg) c.10283C>G (p.Pro3428Arg) c.10262C>G (p.Pro3421Arg) c.10172C>G (p.Pro3391Arg) c.9710C>G (p.Pro3237Arg) c.7904C>G (p.Pro2635Arg) n.10506C>G c.10346C>G (p.Pro3449Arg) c.10205C>G (p.Pro3402Arg) n.10530C>G | dbSNP gnomAD v4 |
| 15 | g.42692002C>T | CA7514738 | STARD9 | c.10424C>T (p.Pro3475Leu) c.2408C>T (p.Pro803Leu) c.10421C>T (p.Pro3474Leu) c.10391C>T (p.Pro3464Leu) c.10361C>T (p.Pro3454Leu) c.10283C>T (p.Pro3428Leu) c.10262C>T (p.Pro3421Leu) c.10172C>T (p.Pro3391Leu) c.9710C>T (p.Pro3237Leu) c.7904C>T (p.Pro2635Leu) n.10506C>T c.10346C>T (p.Pro3449Leu) c.10205C>T (p.Pro3402Leu) n.10530C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42692003G>A | CA269902870 | STARD9 | c.10425G>A (p.Pro3475=) c.2409G>A (p.Pro803=) c.10422G>A (p.Pro3474=) c.10392G>A (p.Pro3464=) c.10362G>A (p.Pro3454=) c.10284G>A (p.Pro3428=) c.10263G>A (p.Pro3421=) c.10173G>A (p.Pro3391=) c.9711G>A (p.Pro3237=) c.7905G>A (p.Pro2635=) n.10507G>A c.10347G>A (p.Pro3449=) c.10206G>A (p.Pro3402=) n.10531G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |