OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625922del | CA412171053 | ARSA | c.1107+17del (n.1107+17del) c.849+17del (n.849+17del) | |
| 22 | g.50625920G>A | CA640358649 | ARSA | c.1107+16C>T (n.1107+16C>T) c.849+16C>T (n.849+16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625920G>C | CA2410958730 | ARSA | c.1107+16C>G (n.1107+16C>G) c.849+16C>G (n.849+16C>G) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625920G= | CA2410958729 | ARSA | c.1107+16C= (n.1107+16C=) c.849+16C= (n.849+16C=) | |
| 22 | g.50625920G>T | CA2410958731 | ARSA | c.1107+16C>A (n.1107+16C>A) c.849+16C>A (n.849+16C>A) | dbSNP gnomAD v4 |
| 22 | g.50625921G>A | CA1026680547 | ARSA | c.1107+15C>T (n.1107+15C>T) c.849+15C>T (n.849+15C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625921G= | CA2410958732 | ARSA | c.1107+15C= (n.1107+15C=) c.849+15C= (n.849+15C=) | |
| 22 | g.50625921G>T | CA2657591647 | ARSA | c.1107+15C>A (n.1107+15C>A) c.849+15C>A (n.849+15C>A) | gnomAD v4 |
| 22 | g.50625922G>A | CA10324828 | ARSA | c.1107+14C>T (n.1107+14C>T) c.849+14C>T (n.849+14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625922G>C | CA754068320 | ARSA | c.1107+14C>G (n.1107+14C>G) c.849+14C>G (n.849+14C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625922G= | CA2410958734 | ARSA | c.1107+14C= (n.1107+14C=) c.849+14C= (n.849+14C=) | |
| 22 | g.50625922G>T | CA2410958733 | ARSA | c.1107+14C>A (n.1107+14C>A) c.849+14C>A (n.849+14C>A) | dbSNP gnomAD v4 |
| 22 | g.50625923T>C | CA2657591655 | ARSA | c.1107+13A>G (n.1107+13A>G) c.849+13A>G (n.849+13A>G) | gnomAD v4 |
| 22 | g.50625924C>A | CA2657591658 | ARSA | c.1107+12G>T (n.1107+12G>T) c.849+12G>T (n.849+12G>T) | gnomAD v4 |
| 22 | g.50625924C= | CA2410958735 | ARSA | c.1107+12G= (n.1107+12G=) c.849+12G= (n.849+12G=) | |
| 22 | g.50625924C>T | CA2410958736 | ARSA | c.1107+12G>A (n.1107+12G>A) c.849+12G>A (n.849+12G>A) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625925_50625926delinsAC | CA2410958737 | ARSA | c.1107+10_1107+11delinsGT (n.1107+10_1107+11delinsGT) c.849+10_849+11delinsGT (n.849+10_849+11delinsGT) | |
| 22 | g.50625926C= | CA2410958738 | ARSA | c.1107+10G= (n.1107+10G=) c.849+10G= (n.849+10G=) | |
| 22 | g.50625926C>G | CA640358650 | ARSA | c.1107+10G>C (n.1107+10G>C) c.849+10G>C (n.849+10G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625926C>T | CA2573158309 | ARSA | c.1107+10G>A (n.1107+10G>A) c.849+10G>A (n.849+10G>A) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625927del | CA10324829 | ARSA | c.1107+10del (n.1107+10del) c.849+10del (n.849+10del) | ClinVar dbSNP ExAC gnomAD v4 |
| 22 | g.50625927C>A | CA2657591676 | ARSA | c.1107+9G>T (n.1107+9G>T) c.849+9G>T (n.849+9G>T) | gnomAD v4 |
| 22 | g.50625927C= | CA2410958739 | ARSA | c.1107+9G= (n.1107+9G=) c.849+9G= (n.849+9G=) | |
| 22 | g.50625927C>T | CA10324830 | ARSA | c.1107+9G>A (n.1107+9G>A) c.849+9G>A (n.849+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50625928G>A | CA10324831 | ARSA | c.1107+8C>T (n.1107+8C>T) c.849+8C>T (n.849+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625928G>C | CA640358651 | ARSA | c.1107+8C>G (n.1107+8C>G) c.849+8C>G (n.849+8C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625928G= | CA2410958740 | ARSA | c.1107+8C= (n.1107+8C=) c.849+8C= (n.849+8C=) | |
| 22 | g.50625928G>T | CA2657591685 | ARSA | c.1107+8C>A (n.1107+8C>A) c.849+8C>A (n.849+8C>A) | gnomAD v4 |
| 22 | g.50625929G>A | CA1026680549 | ARSA | c.1107+7C>T (n.1107+7C>T) c.849+7C>T (n.849+7C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625929G= | CA2410958741 | ARSA | c.1107+7C= (n.1107+7C=) c.849+7C= (n.849+7C=) | |
| 22 | g.50625929G>T | CA2657591694 | ARSA | c.1107+7C>A (n.1107+7C>A) c.849+7C>A (n.849+7C>A) | gnomAD v4 |
| 22 | g.50625930C>A | CA2657591702 | ARSA | c.1107+6G>T (n.1107+6G>T) c.849+6G>T (n.849+6G>T) | gnomAD v4 |
| 22 | g.50625930C= | CA2410958742 | ARSA | c.1107+6G= (n.1107+6G=) c.849+6G= (n.849+6G=) | |
| 22 | g.50625930C>T | CA640358652 | ARSA | c.1107+6G>A (n.1107+6G>A) c.849+6G>A (n.849+6G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625932del | CA2657591701 | ARSA | c.1107+6del (n.1107+6del) c.849+6del (n.849+6del) | gnomAD v4 |
| 22 | g.50625931C>A | CA2657591705 | ARSA | c.1107+5G>T (n.1107+5G>T) c.849+5G>T (n.849+5G>T) | gnomAD v4 |
| 22 | g.50625931C>G | CA2657591708 | ARSA | c.1107+5G>C (n.1107+5G>C) c.849+5G>C (n.849+5G>C) | gnomAD v4 |
| 22 | g.50625931C>T | CA2657591709 | ARSA | c.1107+5G>A (n.1107+5G>A) c.849+5G>A (n.849+5G>A) | gnomAD v4 |
| 22 | g.50625932C>A | CA2657591713 | ARSA | c.1107+4G>T (n.1107+4G>T) c.849+4G>T (n.849+4G>T) | gnomAD v4 |
| 22 | g.50625932C= | CA2410958743 | ARSA | c.1107+4G= (n.1107+4G=) c.849+4G= (n.849+4G=) | |
| 22 | g.50625932C>T | CA640358653 | ARSA | c.1107+4G>A (n.1107+4G>A) c.849+4G>A (n.849+4G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625933T>C | CA2577767896 | ARSA | c.1107+3A>G (n.1107+3A>G) c.849+3A>G (n.849+3A>G) | |
| 22 | g.50625934A>C | CA412171075 | ARSA | c.1107+2T>G (n.1107+2T>G) c.849+2T>G (n.849+2T>G) | |
| 22 | g.50625934A>G | CA412171073 | ARSA | c.1107+2T>C (n.1107+2T>C) c.849+2T>C (n.849+2T>C) | |
| 22 | g.50625934A>T | CA412171074 | ARSA | c.1107+2T>A (n.1107+2T>A) c.849+2T>A (n.849+2T>A) | |
| 22 | g.50625934_50625935delinsAC | CA2410958744 | ARSA | c.1107+1_1107+2delinsGT (n.1107+1_1107+2delinsGT) c.849+1_849+2delinsGT (n.849+1_849+2delinsGT) | |
| 22 | g.50625935C>A | CA412171081 | ARSA | c.1107+1G>T (n.1107+1G>T) c.849+1G>T (n.849+1G>T) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625935C>G | CA412171099 | ARSA | c.1107+1G>C (n.1107+1G>C) c.849+1G>C (n.849+1G>C) | ClinVar |
| 22 | g.50625935C>T | CA412171105 | ARSA | c.1107+1G>A (n.1107+1G>A) c.849+1G>A (n.849+1G>A) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625936del | CA16042035 | ARSA | c.1107+1del c.849+1del | ClinVar dbSNP |
| 22 | g.50625936C>A | CA412171118 | ARSA | c.1107G>T (p.Lys369Asn) c.849G>T (p.Lys283Asn) | gnomAD v4 |
| 22 | g.50625936C= | CA2410958745 | ARSA | c.1107G= (p.Lys369=) c.849G= (p.Lys283=) | |
| 22 | g.50625936C>G | CA218980 | ARSA | c.1107G>C (p.Lys369Asn) c.849G>C (p.Lys283Asn) | ClinVar dbSNP |
| 22 | g.50625936C>T | CA515248818 | ARSA | c.1107G>A (p.Lys369=) c.849G>A (p.Lys283=) | gnomAD v4 |
| 22 | g.50625937T>A | CA412171129 | ARSA | c.1106A>T (p.Lys369Met) c.848A>T (p.Lys283Met) | gnomAD v4 |
| 22 | g.50625937T>C | CA412171132 | ARSA | c.1106A>G (p.Lys369Arg) c.848A>G (p.Lys283Arg) | |
| 22 | g.50625937T>G | CA10324832 | ARSA | c.1106A>C (p.Lys369Thr) c.848A>C (p.Lys283Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625937T= | CA2410958746 | ARSA | c.1106A= (p.Lys369=) c.848A= (p.Lys283=) | |
| 22 | g.50625938T>A | CA412171144 | ARSA | c.1105A>T (p.Lys369Ter) c.847A>T (p.Lys283Ter) | |
| 22 | g.50625938T>C | CA412171141 | ARSA | c.1105A>G (p.Lys369Glu) c.847A>G (p.Lys283Glu) | |
| 22 | g.50625938T>G | CA412171138 | ARSA | c.1105A>C (p.Lys369Gln) c.847A>C (p.Lys283Gln) | |
| 22 | g.50625939G>A | CA515248819 | ARSA | c.1104C>T (p.Gly368=) c.846C>T (p.Gly282=) | |
| 22 | g.50625939G>C | CA515248820 | ARSA | c.1104C>G (p.Gly368=) c.846C>G (p.Gly282=) | |
| 22 | g.50625939G>T | CA515248821 | ARSA | c.1104C>A (p.Gly368=) c.846C>A (p.Gly282=) | gnomAD v4 |
| 22 | g.50625940C>A | CA412171171 | ARSA | c.1103G>T (p.Gly368Val) c.845G>T (p.Gly282Val) | gnomAD v4 |
| 22 | g.50625940C>G | CA412171176 | ARSA | c.1103G>C (p.Gly368Ala) c.845G>C (p.Gly282Ala) | |
| 22 | g.50625940C>T | CA412171191 | ARSA | c.1103G>A (p.Gly368Asp) c.845G>A (p.Gly282Asp) | gnomAD v4 |
| 22 | g.50625941C>A | CA412171194 | ARSA | c.1102G>T (p.Gly368Cys) c.844G>T (p.Gly282Cys) | gnomAD v4 |
| 22 | g.50625941C= | CA2410958747 | ARSA | c.1102G= (p.Gly368=) c.844G= (p.Gly282=) | |
| 22 | g.50625941C>G | CA412171200 | ARSA | c.1102G>C (p.Gly368Arg) c.844G>C (p.Gly282Arg) | |
| 22 | g.50625941C>T | CA412171207 | ARSA | c.1102G>A (p.Gly368Ser) c.844G>A (p.Gly282Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625942T>A | CA515248824 | ARSA | c.1101A>T (p.Thr367=) c.843A>T (p.Thr281=) | gnomAD v4 |
| 22 | g.50625942T>C | CA515248823 | ARSA | c.1101A>G (p.Thr367=) c.843A>G (p.Thr281=) | gnomAD v4 |
| 22 | g.50625942T>G | CA515248822 | ARSA | c.1101A>C (p.Thr367=) c.843A>C (p.Thr281=) | |
| 22 | g.50625943G>A | CA412171214 | ARSA | c.1100C>T (p.Thr367Ile) c.842C>T (p.Thr281Ile) | gnomAD v4 |
| 22 | g.50625943G>C | CA412171217 | ARSA | c.1100C>G (p.Thr367Arg) c.842C>G (p.Thr281Arg) | dbSNP gnomAD v2 |
| 22 | g.50625943G= | CA2410958748 | ARSA | c.1100C= (p.Thr367=) c.842C= (p.Thr281=) | |
| 22 | g.50625943G>T | CA412171219 | ARSA | c.1100C>A (p.Thr367Lys) c.842C>A (p.Thr281Lys) | |
| 22 | g.50625944T>A | CA412171225 | ARSA | c.1099A>T (p.Thr367Ser) c.841A>T (p.Thr281Ser) | gnomAD v4 |
| 22 | g.50625944T>C | CA412171226 | ARSA | c.1099A>G (p.Thr367Ala) c.841A>G (p.Thr281Ala) | dbSNP gnomAD v4 |
| 22 | g.50625944T>G | CA412171227 | ARSA | c.1099A>C (p.Thr367Pro) c.841A>C (p.Thr281Pro) | |
| 22 | g.50625944T= | CA2410958749 | ARSA | c.1099A= (p.Thr367=) c.841A= (p.Thr281=) | |
| 22 | g.50625945G>A | CA515248825 | ARSA | c.1098C>T (p.Gly366=) c.840C>T (p.Gly280=) | gnomAD v4 |
| 22 | g.50625945G>C | CA515248826 | ARSA | c.1098C>G (p.Gly366=) c.840C>G (p.Gly280=) | |
| 22 | g.50625945G>T | CA515248827 | ARSA | c.1098C>A (p.Gly366=) c.840C>A (p.Gly280=) | gnomAD v4 |
| 22 | g.50625946C>A | CA412171255 | ARSA | c.1097G>T (p.Gly366Val) c.839G>T (p.Gly280Val) | gnomAD v4 |
| 22 | g.50625946C= | CA2410958750 | ARSA | c.1097G= (p.Gly366=) c.839G= (p.Gly280=) | |
| 22 | g.50625946C>G | CA412171244 | ARSA | c.1097G>C (p.Gly366Ala) c.839G>C (p.Gly280Ala) | gnomAD v4 |
| 22 | g.50625946C>T | CA412171239 | ARSA | c.1097G>A (p.Gly366Asp) c.839G>A (p.Gly280Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50625947C>A | CA412171257 | ARSA | c.1096G>T (p.Gly366Cys) c.838G>T (p.Gly280Cys) | gnomAD v4 |
| 22 | g.50625947C>G | CA412171259 | ARSA | c.1096G>C (p.Gly366Arg) c.838G>C (p.Gly280Arg) | |
| 22 | g.50625947C>T | CA412171262 | ARSA | c.1096G>A (p.Gly366Ser) c.838G>A (p.Gly280Ser) | gnomAD v4 COSMIC |
| 22 | g.50625948C>A | CA515248828 | ARSA | c.1095G>T (p.Leu365=) c.837G>T (p.Leu279=) | gnomAD v4 |
| 22 | g.50625948C= | CA2410958751 | ARSA | c.1095G= (p.Leu365=) c.837G= (p.Leu279=) | |
| 22 | g.50625948C>G | CA515248829 | ARSA | c.1095G>C (p.Leu365=) c.837G>C (p.Leu279=) | |
| 22 | g.50625948C>T | CA10324833 | ARSA | c.1095G>A (p.Leu365=) c.837G>A (p.Leu279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625949A>C | CA412171279 | ARSA | c.1094T>G (p.Leu365Arg) c.836T>G (p.Leu279Arg) | |
| 22 | g.50625949A>G | CA412171285 | ARSA | c.1094T>C (p.Leu365Pro) c.836T>C (p.Leu279Pro) | gnomAD v4 |
| 22 | g.50625949A>T | CA412171291 | ARSA | c.1094T>A (p.Leu365Gln) c.836T>A (p.Leu279Gln) | gnomAD v4 |
| 22 | g.50625950G>A | CA515248830 | ARSA | c.1093C>T (p.Leu365=) c.835C>T (p.Leu279=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625950G>C | CA412171298 | ARSA | c.1093C>G (p.Leu365Val) c.835C>G (p.Leu279Val) | |
| 22 | g.50625950G= | CA2410958752 | ARSA | c.1093C= (p.Leu365=) c.835C= (p.Leu279=) | |
| 22 | g.50625950G>T | CA412171305 | ARSA | c.1093C>A (p.Leu365Met) c.835C>A (p.Leu279Met) | gnomAD v4 |
| 22 | g.50625951C>A | CA515248831 | ARSA | c.1092G>T (p.Leu364=) c.834G>T (p.Leu278=) | gnomAD v4 |
| 22 | g.50625951C>G | CA515248832 | ARSA | c.1092G>C (p.Leu364=) c.834G>C (p.Leu278=) | |
| 22 | g.50625951C>T | CA515248833 | ARSA | c.1092G>A (p.Leu364=) c.834G>A (p.Leu278=) | gnomAD v4 |
| 22 | g.50625952A>C | CA412171310 | ARSA | c.1091T>G (p.Leu364Arg) c.833T>G (p.Leu278Arg) | |
| 22 | g.50625952A>G | CA412171314 | ARSA | c.1091T>C (p.Leu364Pro) c.833T>C (p.Leu278Pro) | gnomAD v4 |
| 22 | g.50625952A>T | CA412171315 | ARSA | c.1091T>A (p.Leu364Gln) c.833T>A (p.Leu278Gln) | gnomAD v4 |
| 22 | g.50625953G>A | CA515248834 | ARSA | c.1090C>T (p.Leu364=) c.832C>T (p.Leu278=) | gnomAD v4 |
| 22 | g.50625953G>C | CA412171320 | ARSA | c.1090C>G (p.Leu364Val) c.832C>G (p.Leu278Val) | |
| 22 | g.50625953G>T | CA412171318 | ARSA | c.1090C>A (p.Leu364Met) c.832C>A (p.Leu278Met) | gnomAD v4 |
| 22 | g.50625954C>A | CA515248835 | ARSA | c.1089G>T (p.Leu363=) c.831G>T (p.Leu277=) | gnomAD v4 |
| 22 | g.50625954C= | CA2410958753 | ARSA | c.1089G= (p.Leu363=) c.831G= (p.Leu277=) | |
| 22 | g.50625954C>G | CA515248836 | ARSA | c.1089G>C (p.Leu363=) c.831G>C (p.Leu277=) | ClinVar dbSNP |
| 22 | g.50625954C>T | CA515248837 | ARSA | c.1089G>A (p.Leu363=) c.831G>A (p.Leu277=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625955A= | CA2410958754 | ARSA | c.1088T= (p.Leu363=) c.830T= (p.Leu277=) | |
| 22 | g.50625955A>C | CA412171325 | ARSA | c.1088T>G (p.Leu363Arg) c.830T>G (p.Leu277Arg) | |
| 22 | g.50625955A>G | CA412171330 | ARSA | c.1088T>C (p.Leu363Pro) c.830T>C (p.Leu277Pro) | gnomAD v4 |
| 22 | g.50625955A>T | CA412171334 | ARSA | c.1088T>A (p.Leu363Gln) c.830T>A (p.Leu277Gln) | |
| 22 | g.50625956G>A | CA515248838 | ARSA | c.1087C>T (p.Leu363=) c.829C>T (p.Leu277=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625956G>C | CA412171342 | ARSA | c.1087C>G (p.Leu363Val) c.829C>G (p.Leu277Val) | |
| 22 | g.50625956G= | CA2410958755 | ARSA | c.1087C= (p.Leu363=) c.829C= (p.Leu277=) | |
| 22 | g.50625956G>T | CA412171347 | ARSA | c.1087C>A (p.Leu363Met) c.829C>A (p.Leu277Met) | dbSNP gnomAD v4 |
| 22 | g.50625960dup | CA916083827 | ARSA | c.1087dup (p.Leu363ProfsTer?) c.829dup (p.Leu277ProfsTer?) | ClinVar dbSNP |
| 22 | g.50625960del | CA645612057 | ARSA | c.1087del (p.Leu363CysfsTer?) c.829del (p.Leu277CysfsTer?) c.1087del (p.Leu363CysfsTer12) | COSMIC |
| 22 | g.50625957G>A | CA515248839 | ARSA | c.1086C>T (p.Pro362=) c.828C>T (p.Pro276=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625957G>C | CA515248840 | ARSA | c.1086C>G (p.Pro362=) c.828C>G (p.Pro276=) | |
| 22 | g.50625957G= | CA2410958756 | ARSA | c.1086C= (p.Pro362=) c.828C= (p.Pro276=) | |
| 22 | g.50625957G>T | CA515248841 | ARSA | c.1086C>A (p.Pro362=) c.828C>A (p.Pro276=) | gnomAD v4 |
| 22 | g.50625958G>A | CA412171348 | ARSA | c.1085C>T (p.Pro362Leu) c.827C>T (p.Pro276Leu) | |
| 22 | g.50625958G>C | CA412171349 | ARSA | c.1085C>G (p.Pro362Arg) c.827C>G (p.Pro276Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625958G= | CA2410958757 | ARSA | c.1085C= (p.Pro362=) c.827C= (p.Pro276=) | |
| 22 | g.50625958G>T | CA412171353 | ARSA | c.1085C>A (p.Pro362His) c.827C>A (p.Pro276His) | gnomAD v4 |
| 22 | g.50625959G>A | CA412171363 | ARSA | c.1084C>T (p.Pro362Ser) c.826C>T (p.Pro276Ser) | |
| 22 | g.50625959G>C | CA412171383 | ARSA | c.1084C>G (p.Pro362Ala) c.826C>G (p.Pro276Ala) | |
| 22 | g.50625959G>T | CA412171396 | ARSA | c.1084C>A (p.Pro362Thr) c.826C>A (p.Pro276Thr) | |
| 22 | g.50625959_50625961delinsGGC | CA2410958758 | ARSA | c.1082_1084delinsGCC (p.Ser361=) c.824_826delinsGCC (p.Ser275=) | |
| 22 | g.50625960G>A | CA515248842 | ARSA | c.1083C>T (p.Ser361=) c.825C>T (p.Ser275=) | |
| 22 | g.50625960G>C | CA412171398 | ARSA | c.1083C>G (p.Ser361Arg) c.825C>G (p.Ser275Arg) | |
| 22 | g.50625960G= | CA2410958759 | ARSA | c.1083C= (p.Ser361=) c.825C= (p.Ser275=) | |
| 22 | g.50625960G>T | CA412171402 | ARSA | c.1083C>A (p.Ser361Arg) c.825C>A (p.Ser275Arg) | dbSNP gnomAD v4 |
| 22 | g.50625960_50625961del | CA2410958760 | ARSA | c.1082_1083del (p.Ser361ThrfsTer?) c.824_825del (p.Ser275ThrfsTer?) | dbSNP |
| 22 | g.50625961C>A | CA412171417 | ARSA | c.1082G>T (p.Ser361Ile) c.824G>T (p.Ser275Ile) | gnomAD v4 |
| 22 | g.50625961C= | CA2410958761 | ARSA | c.1082G= (p.Ser361=) c.824G= (p.Ser275=) | |
| 22 | g.50625961C>G | CA412171428 | ARSA | c.1082G>C (p.Ser361Thr) c.824G>C (p.Ser275Thr) | |
| 22 | g.50625961C>T | CA412171407 | ARSA | c.1082G>A (p.Ser361Asn) c.824G>A (p.Ser275Asn) | dbSNP |
| 22 | g.50625962T>A | CA412171433 | ARSA | c.1081A>T (p.Ser361Cys) c.823A>T (p.Ser275Cys) | |
| 22 | g.50625962T>C | CA412171430 | ARSA | c.1081A>G (p.Ser361Gly) c.823A>G (p.Ser275Gly) | |
| 22 | g.50625962T>G | CA412171431 | ARSA | c.1081A>C (p.Ser361Arg) c.823A>C (p.Ser275Arg) | |
| 22 | g.50625963G>A | CA515248845 | ARSA | c.1080C>T (p.Leu360=) c.822C>T (p.Leu274=) | gnomAD v4 |
| 22 | g.50625963G>C | CA515248843 | ARSA | c.1080C>G (p.Leu360=) c.822C>G (p.Leu274=) | |
| 22 | g.50625963G>T | CA515248844 | ARSA | c.1080C>A (p.Leu360=) c.822C>A (p.Leu274=) | |
| 22 | g.50625964A= | CA2410958763 | ARSA | c.1079T= (p.Leu360=) c.821T= (p.Leu274=) | |
| 22 | g.50625964A>C | CA412171437 | ARSA | c.1079T>G (p.Leu360Arg) c.821T>G (p.Leu274Arg) | |
| 22 | g.50625964A>G | CA412171445 | ARSA | c.1079T>C (p.Leu360Pro) c.821T>C (p.Leu274Pro) | ClinVar dbSNP |
| 22 | g.50625964A>T | CA412171448 | ARSA | c.1079T>A (p.Leu360His) c.821T>A (p.Leu274His) | |
| 22 | g.50625964_50625965delinsAG | CA2410958762 | ARSA | c.1078_1079delinsCT (p.Leu360=) c.820_821delinsCT (p.Leu274=) | |
| 22 | g.50625965G>A | CA412171454 | ARSA | c.1078C>T (p.Leu360Phe) c.820C>T (p.Leu274Phe) | |
| 22 | g.50625965G>C | CA412171466 | ARSA | c.1078C>G (p.Leu360Val) c.820C>G (p.Leu274Val) | gnomAD v4 |
| 22 | g.50625965G= | CA2410958765 | ARSA | c.1078C= (p.Leu360=) c.820C= (p.Leu274=) | |
| 22 | g.50625965G>T | CA412171469 | ARSA | c.1078C>A (p.Leu360Ile) c.820C>A (p.Leu274Ile) | dbSNP gnomAD v4 |
| 22 | g.50625966del | CA920392348 | ARSA | c.1078del (p.Leu360SerfsTer?) c.820del (p.Leu274SerfsTer?) c.1078del (p.Leu360SerfsTer15) | dbSNP |
| 22 | g.50625965_50625967delinsGGT | CA2410958764 | ARSA | c.1076_1078delinsACC (p.Asp359=) c.818_820delinsACC (p.Asp273=) | |
| 22 | g.50625966G>A | CA325531311 | ARSA | c.1077C>T (p.Asp359=) c.819C>T (p.Asp273=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625966G>C | CA412171472 | ARSA | c.1077C>G (p.Asp359Glu) c.819C>G (p.Asp273Glu) | |
| 22 | g.50625966G= | CA2410958766 | ARSA | c.1077C= (p.Asp359=) c.819C= (p.Asp273=) | |
| 22 | g.50625966G>T | CA412171476 | ARSA | c.1077C>A (p.Asp359Glu) c.819C>A (p.Asp273Glu) | |
| 22 | g.50625966_50625967del | CA754068402 | ARSA | c.1076_1077del (p.Asp359AlafsTer?) c.818_819del (p.Asp273AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625967T>A | CA412171489 | ARSA | c.1076A>T (p.Asp359Val) c.818A>T (p.Asp273Val) | |
| 22 | g.50625967T>C | CA412171493 | ARSA | c.1076A>G (p.Asp359Gly) c.818A>G (p.Asp273Gly) | gnomAD v4 |
| 22 | g.50625967T>G | CA412171495 | ARSA | c.1076A>C (p.Asp359Ala) c.818A>C (p.Asp273Ala) | |
| 22 | g.50625968C>A | CA412171499 | ARSA | c.1075G>T (p.Asp359Tyr) c.817G>T (p.Asp273Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625968C= | CA2410958767 | ARSA | c.1075G= (p.Asp359=) c.817G= (p.Asp273=) | |
| 22 | g.50625968C>G | CA412171501 | ARSA | c.1075G>C (p.Asp359His) c.817G>C (p.Asp273His) | |
| 22 | g.50625968C>T | CA412171500 | ARSA | c.1075G>A (p.Asp359Asn) c.817G>A (p.Asp273Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625969A>C | CA412171503 | ARSA | c.1074T>G (p.Phe358Leu) c.816T>G (p.Phe272Leu) | |
| 22 | g.50625969A>G | CA515248846 | ARSA | c.1074T>C (p.Phe358=) c.816T>C (p.Phe272=) | |
| 22 | g.50625969A>T | CA412171516 | ARSA | c.1074T>A (p.Phe358Leu) c.816T>A (p.Phe272Leu) | |
| 22 | g.50625969_50625973delinsAAAGC | CA2410958768 | ARSA | c.1070_1074delinsGCTTT (p.Gly357=) c.812_816delinsGCTTT (p.Gly271=) | |
| 22 | g.50625970A>C | CA412171519 | ARSA | c.1073T>G (p.Phe358Cys) c.815T>G (p.Phe272Cys) | |
| 22 | g.50625970A>G | CA412171523 | ARSA | c.1073T>C (p.Phe358Ser) c.815T>C (p.Phe272Ser) | |
| 22 | g.50625970A>T | CA412171527 | ARSA | c.1073T>A (p.Phe358Tyr) c.815T>A (p.Phe272Tyr) | |
| 22 | g.50625970_50625973del | CA1026680566 | ARSA | c.1070_1073del (p.Gly357ValfsTer?) c.812_815del (p.Gly271ValfsTer?) c.1070_1073del (p.Gly357ValfsTer17) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625971A= | CA2410958769 | ARSA | c.1072T= (p.Phe358=) c.814T= (p.Phe272=) | |
| 22 | g.50625971A>C | CA325531313 | ARSA | c.1072T>G (p.Phe358Val) c.814T>G (p.Phe272Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625971A>G | CA412171547 | ARSA | c.1072T>C (p.Phe358Leu) c.814T>C (p.Phe272Leu) | |
| 22 | g.50625971A>T | CA412171556 | ARSA | c.1072T>A (p.Phe358Ile) c.814T>A (p.Phe272Ile) | |
| 22 | g.50625972G>A | CA515248847 | ARSA | c.1071C>T (p.Gly357=) c.813C>T (p.Gly271=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625972G>C | CA515248848 | ARSA | c.1071C>G (p.Gly357=) c.813C>G (p.Gly271=) | |
| 22 | g.50625972G= | CA2410958770 | ARSA | c.1071C= (p.Gly357=) c.813C= (p.Gly271=) | |
| 22 | g.50625972G>T | CA515248849 | ARSA | c.1071C>A (p.Gly357=) c.813C>A (p.Gly271=) | gnomAD v4 |
| 22 | g.50625973C>A | CA412171563 | ARSA | c.1070G>T (p.Gly357Val) c.812G>T (p.Gly271Val) | gnomAD v4 |
| 22 | g.50625973C= | CA2410958771 | ARSA | c.1070G= (p.Gly357=) c.812G= (p.Gly271=) | |
| 22 | g.50625973C>G | CA412171569 | ARSA | c.1070G>C (p.Gly357Ala) c.812G>C (p.Gly271Ala) | |
| 22 | g.50625973C>T | CA10324834 | ARSA | c.1070G>A (p.Gly357Asp) c.812G>A (p.Gly271Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50625974C>A | CA412171598 | ARSA | c.1069G>T (p.Gly357Cys) c.811G>T (p.Gly271Cys) | |
| 22 | g.50625974C>G | CA412171599 | ARSA | c.1069G>C (p.Gly357Arg) c.811G>C (p.Gly271Arg) | |
| 22 | g.50625974C>T | CA412171589 | ARSA | c.1069G>A (p.Gly357Ser) c.811G>A (p.Gly271Ser) | |
| 22 | g.50625975A= | CA2410958772 | ARSA | c.1068T= (p.Asp356=) c.810T= (p.Asp270=) | |
| 22 | g.50625975A>C | CA412171602 | ARSA | c.1068T>G (p.Asp356Glu) c.810T>G (p.Asp270Glu) | |
| 22 | g.50625975A>G | CA515248850 | ARSA | c.1068T>C (p.Asp356=) c.810T>C (p.Asp270=) | ClinVar dbSNP gnomAD v2 |
| 22 | g.50625975A>T | CA412171603 | ARSA | c.1068T>A (p.Asp356Glu) c.810T>A (p.Asp270Glu) | |
| 22 | g.50625976T>A | CA412171604 | ARSA | c.1067A>T (p.Asp356Val) c.809A>T (p.Asp270Val) | gnomAD v4 |
| 22 | g.50625976T>C | CA412171606 | ARSA | c.1067A>G (p.Asp356Gly) c.809A>G (p.Asp270Gly) | |
| 22 | g.50625976T>G | CA412171609 | ARSA | c.1067A>C (p.Asp356Ala) c.809A>C (p.Asp270Ala) | |
| 22 | g.50625977C>A | CA412171613 | ARSA | c.1066G>T (p.Asp356Tyr) c.808G>T (p.Asp270Tyr) | gnomAD v4 |
| 22 | g.50625977C>G | CA412171616 | ARSA | c.1066G>C (p.Asp356His) c.808G>C (p.Asp270His) | |
| 22 | g.50625977C>T | CA412171626 | ARSA | c.1066G>A (p.Asp356Asn) c.808G>A (p.Asp270Asn) | |
| 22 | g.50625978C>A | CA412171630 | ARSA | c.1065G>T (p.Leu355Phe) c.807G>T (p.Leu269Phe) | gnomAD v4 |
| 22 | g.50625978C>G | CA412171635 | ARSA | c.1065G>C (p.Leu355Phe) c.807G>C (p.Leu269Phe) | |
| 22 | g.50625978C>T | CA515248851 | ARSA | c.1065G>A (p.Leu355=) c.807G>A (p.Leu269=) | gnomAD v4 |
| 22 | g.50625979A>C | CA412171639 | ARSA | c.1064T>G (p.Leu355Trp) c.806T>G (p.Leu269Trp) | |
| 22 | g.50625979A>G | CA412171643 | ARSA | c.1064T>C (p.Leu355Ser) c.806T>C (p.Leu269Ser) | |
| 22 | g.50625979A>T | CA412171646 | ARSA | c.1064T>A (p.Leu355Ter) c.806T>A (p.Leu269Ter) | |
| 22 | g.50625980A= | CA2410958773 | ARSA | c.1063T= (p.Leu355=) c.805T= (p.Leu269=) | |
| 22 | g.50625980A>C | CA10324835 | ARSA | c.1063T>G (p.Leu355Val) c.805T>G (p.Leu269Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625980A>G | CA515248852 | ARSA | c.1063T>C (p.Leu355=) c.805T>C (p.Leu269=) | |
| 22 | g.50625980A>T | CA412171653 | ARSA | c.1063T>A (p.Leu355Met) c.805T>A (p.Leu269Met) | |
| 22 | g.50625981G>A | CA515248853 | ARSA | c.1062C>T (p.Thr354=) c.804C>T (p.Thr268=) | |
| 22 | g.50625981G>C | CA515248854 | ARSA | c.1062C>G (p.Thr354=) c.804C>G (p.Thr268=) | |
| 22 | g.50625981G>T | CA515248855 | ARSA | c.1062C>A (p.Thr354=) c.804C>A (p.Thr268=) | |
| 22 | g.50625982G>A | CA412171668 | ARSA | c.1061C>T (p.Thr354Ile) c.803C>T (p.Thr268Ile) | |
| 22 | g.50625982G>C | CA412171671 | ARSA | c.1061C>G (p.Thr354Ser) c.803C>G (p.Thr268Ser) | |
| 22 | g.50625982G>T | CA412171675 | ARSA | c.1061C>A (p.Thr354Asn) c.803C>A (p.Thr268Asn) | |
| 22 | g.50625983T>A | CA10324836 | ARSA | c.1060A>T (p.Thr354Ser) c.802A>T (p.Thr268Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625983T>C | CA412171687 | ARSA | c.1060A>G (p.Thr354Ala) c.802A>G (p.Thr268Ala) | |
| 22 | g.50625983T>G | CA412171693 | ARSA | c.1060A>C (p.Thr354Pro) c.802A>C (p.Thr268Pro) | gnomAD v4 |
| 22 | g.50625983T= | CA2410958774 | ARSA | c.1060A= (p.Thr354=) c.802A= (p.Thr268=) | |
| 22 | g.50625984G>A | CA515248856 | ARSA | c.1059C>T (p.Val353=) c.801C>T (p.Val267=) | ClinVar |
| 22 | g.50625984G>C | CA515248857 | ARSA | c.1059C>G (p.Val353=) c.801C>G (p.Val267=) | |
| 22 | g.50625984G>T | CA515248858 | ARSA | c.1059C>A (p.Val353=) c.801C>A (p.Val267=) | |
| 22 | g.50625985A>C | CA412171729 | ARSA | c.1058T>G (p.Val353Gly) c.800T>G (p.Val267Gly) | |
| 22 | g.50625985A>G | CA412171699 | ARSA | c.1058T>C (p.Val353Ala) c.800T>C (p.Val267Ala) | |
| 22 | g.50625985A>T | CA412171722 | ARSA | c.1058T>A (p.Val353Asp) c.800T>A (p.Val267Asp) | gnomAD v4 |
| 22 | g.50625986C>A | CA412171735 | ARSA | c.1057G>T (p.Val353Phe) c.799G>T (p.Val267Phe) | gnomAD v4 |
| 22 | g.50625986C>G | CA412171738 | ARSA | c.1057G>C (p.Val353Leu) c.799G>C (p.Val267Leu) | |
| 22 | g.50625986C>T | CA412171743 | ARSA | c.1057G>A (p.Val353Ile) c.799G>A (p.Val267Ile) | gnomAD v4 |
| 22 | g.50625987A= | CA2410958775 | ARSA | c.1056T= (p.Asn352=) c.798T= (p.Asn266=) | |
| 22 | g.50625987A>C | CA412171751 | ARSA | c.1056T>G (p.Asn352Lys) c.798T>G (p.Asn266Lys) | |
| 22 | g.50625987A>G | CA515248859 | ARSA | c.1056T>C (p.Asn352=) c.798T>C (p.Asn266=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625987A>T | CA412171755 | ARSA | c.1056T>A (p.Asn352Lys) c.798T>A (p.Asn266Lys) | |
| 22 | g.50625988T>A | CA412171786 | ARSA | c.1055A>T (p.Asn352Ile) c.797A>T (p.Asn266Ile) | |
| 22 | g.50625988T>C | CA115954 | ARSA | c.1055A>G (p.Asn352Ser) c.797A>G (p.Asn266Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625988T>G | CA412171758 | ARSA | c.1055A>C (p.Asn352Thr) c.797A>C (p.Asn266Thr) | |
| 22 | g.50625988T= | CA2410958776 | ARSA | c.1055A= (p.Asn352=) c.797A= (p.Asn266=) | |
| 22 | g.50625989T>A | CA412171790 | ARSA | c.1054A>T (p.Asn352Tyr) c.796A>T (p.Asn266Tyr) | |
| 22 | g.50625989T>C | CA412171796 | ARSA | c.1054A>G (p.Asn352Asp) c.796A>G (p.Asn266Asp) | |
| 22 | g.50625989T>G | CA412171793 | ARSA | c.1054A>C (p.Asn352His) c.796A>C (p.Asn266His) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625989T= | CA2410958777 | ARSA | c.1054A= (p.Asn352=) c.796A= (p.Asn266=) | |
| 22 | g.50625990G>A | CA515248861 | ARSA | c.1053C>T (p.Pro351=) c.795C>T (p.Pro265=) | gnomAD v4 |
| 22 | g.50625990G>C | CA515248862 | ARSA | c.1053C>G (p.Pro351=) c.795C>G (p.Pro265=) | |
| 22 | g.50625990G>T | CA515248860 | ARSA | c.1053C>A (p.Pro351=) c.795C>A (p.Pro265=) | |
| 22 | g.50625992del | CA2580100076 | ARSA | c.1053del (p.Asn352MetfsTer?) c.795del (p.Asn266MetfsTer?) c.1053del (p.Asn352MetfsTer23) | ClinVar |
| 22 | g.50625991G>A | CA412171800 | ARSA | c.1052C>T (p.Pro351Leu) c.794C>T (p.Pro265Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625991G>C | CA412171803 | ARSA | c.1052C>G (p.Pro351Arg) c.794C>G (p.Pro265Arg) | |
| 22 | g.50625991G= | CA2410958778 | ARSA | c.1052C= (p.Pro351=) c.794C= (p.Pro265=) | |
| 22 | g.50625991G>T | CA412171801 | ARSA | c.1052C>A (p.Pro351His) c.794C>A (p.Pro265His) | gnomAD v4 |
| 22 | g.50625992G>A | CA412171811 | ARSA | c.1051C>T (p.Pro351Ser) c.793C>T (p.Pro265Ser) | gnomAD v4 |
| 22 | g.50625992G>C | CA412171820 | ARSA | c.1051C>G (p.Pro351Ala) c.793C>G (p.Pro265Ala) | dbSNP gnomAD v4 |
| 22 | g.50625992G= | CA2410958779 | ARSA | c.1051C= (p.Pro351=) c.793C= (p.Pro265=) | |
| 22 | g.50625992G>T | CA412171816 | ARSA | c.1051C>A (p.Pro351Thr) c.793C>A (p.Pro265Thr) | |
| 22 | g.50625993C>A | CA515248865 | ARSA | c.1050G>T (p.Leu350=) c.792G>T (p.Leu264=) | gnomAD v4 |
| 22 | g.50625993C>G | CA515248864 | ARSA | c.1050G>C (p.Leu350=) c.792G>C (p.Leu264=) | ClinVar |
| 22 | g.50625993C>T | CA515248863 | ARSA | c.1050G>A (p.Leu350=) c.792G>A (p.Leu264=) | gnomAD v4 |
| 22 | g.50625994A= | CA2410958780 | ARSA | c.1049T= (p.Leu350=) c.791T= (p.Leu264=) | |
| 22 | g.50625994A>C | CA412171826 | ARSA | c.1049T>G (p.Leu350Arg) c.791T>G (p.Leu264Arg) | |
| 22 | g.50625994A>G | CA412171845 | ARSA | c.1049T>C (p.Leu350Pro) c.791T>C (p.Leu264Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625994A>T | CA412171837 | ARSA | c.1049T>A (p.Leu350Gln) c.791T>A (p.Leu264Gln) | |
| 22 | g.50625995G>A | CA515248866 | ARSA | c.1048C>T (p.Leu350=) c.790C>T (p.Leu264=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625995G>C | CA412171851 | ARSA | c.1048C>G (p.Leu350Val) c.790C>G (p.Leu264Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625995G= | CA2410958781 | ARSA | c.1048C= (p.Leu350=) c.790C= (p.Leu264=) | |
| 22 | g.50625995G>T | CA412171852 | ARSA | c.1048C>A (p.Leu350Met) c.790C>A (p.Leu264Met) | |
| 22 | g.50625996T>A | CA515248867 | ARSA | c.1047A>T (p.Pro349=) c.789A>T (p.Pro263=) | |
| 22 | g.50625996T>C | CA515248869 | ARSA | c.1047A>G (p.Pro349=) c.789A>G (p.Pro263=) | ClinVar gnomAD v4 |
| 22 | g.50625996T>G | CA515248868 | ARSA | c.1047A>C (p.Pro349=) c.789A>C (p.Pro263=) | ClinVar dbSNP |
| 22 | g.50625996_50625997delinsTG | CA2410958782 | ARSA | c.1046_1047delinsCA (p.Pro349=) c.788_789delinsCA (p.Pro263=) | |
| 22 | g.50625997G>A | CA412171853 | ARSA | c.1046C>T (p.Pro349Leu) c.788C>T (p.Pro263Leu) | gnomAD v4 COSMIC |
| 22 | g.50625997G>C | CA412171858 | ARSA | c.1046C>G (p.Pro349Arg) c.788C>G (p.Pro263Arg) | |
| 22 | g.50625997G= | CA2410958783 | ARSA | c.1046C= (p.Pro349=) c.788C= (p.Pro263=) | |
| 22 | g.50625997G>T | CA412171862 | ARSA | c.1046C>A (p.Pro349Gln) c.788C>A (p.Pro263Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626000del | CA915952824 | ARSA | c.1046del (p.Pro349HisfsTer?) c.788del (p.Pro263HisfsTer?) c.1046del (p.Pro349HisfsTer26) | ClinVar dbSNP |
| 22 | g.50625998G>A | CA10324837 | ARSA | c.1045C>T (p.Pro349Ser) c.787C>T (p.Pro263Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625998G>C | CA412171877 | ARSA | c.1045C>G (p.Pro349Ala) c.787C>G (p.Pro263Ala) | |
| 22 | g.50625998G= | CA2410958784 | ARSA | c.1045C= (p.Pro349=) c.787C= (p.Pro263=) | |
| 22 | g.50625998G>T | CA412171881 | ARSA | c.1045C>A (p.Pro349Thr) c.787C>A (p.Pro263Thr) | gnomAD v4 |
| 22 | g.50625999G>A | CA325531314 | ARSA | c.1044C>T (p.Ala348=) c.786C>T (p.Ala262=) | dbSNP gnomAD v4 |
| 22 | g.50625999G>C | CA515248870 | ARSA | c.1044C>G (p.Ala348=) c.786C>G (p.Ala262=) | ClinVar gnomAD v4 |
| 22 | g.50625999G= | CA2410958785 | ARSA | c.1044C= (p.Ala348=) c.786C= (p.Ala262=) | |
| 22 | g.50625999G>T | CA515248871 | ARSA | c.1044C>A (p.Ala348=) c.786C>A (p.Ala262=) | |
| 22 | g.50626000G>A | CA412171888 | ARSA | c.1043C>T (p.Ala348Val) c.785C>T (p.Ala262Val) | gnomAD v4 |
| 22 | g.50626000G>C | CA412171902 | ARSA | c.1043C>G (p.Ala348Gly) c.785C>G (p.Ala262Gly) | |
| 22 | g.50626000G>T | CA412171905 | ARSA | c.1043C>A (p.Ala348Asp) c.785C>A (p.Ala262Asp) | gnomAD v4 |
| 22 | g.50626001C>A | CA412171911 | ARSA | c.1042G>T (p.Ala348Ser) c.784G>T (p.Ala262Ser) | gnomAD v4 |
| 22 | g.50626001C>G | CA412171923 | ARSA | c.1042G>C (p.Ala348Pro) c.784G>C (p.Ala262Pro) | |
| 22 | g.50626001C>T | CA412171916 | ARSA | c.1042G>A (p.Ala348Thr) c.784G>A (p.Ala262Thr) | |
| 22 | g.50626002C>A | CA515248872 | ARSA | c.1041G>T (p.Gly347=) c.783G>T (p.Gly261=) | gnomAD v4 |
| 22 | g.50626002C= | CA2410958786 | ARSA | c.1041G= (p.Gly347=) c.783G= (p.Gly261=) | |
| 22 | g.50626002C>G | CA515248873 | ARSA | c.1041G>C (p.Gly347=) c.783G>C (p.Gly261=) | |
| 22 | g.50626002C>T | CA515248874 | ARSA | c.1041G>A (p.Gly347=) c.783G>A (p.Gly261=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626003C>A | CA412171946 | ARSA | c.1040G>T (p.Gly347Val) c.782G>T (p.Gly261Val) | gnomAD v4 |
| 22 | g.50626003C= | CA2410958787 | ARSA | c.1040G= (p.Gly347=) c.782G= (p.Gly261=) | |
| 22 | g.50626003C>G | CA412171953 | ARSA | c.1040G>C (p.Gly347Ala) c.782G>C (p.Gly261Ala) | |
| 22 | g.50626003C>T | CA412171954 | ARSA | c.1040G>A (p.Gly347Glu) c.782G>A (p.Gly261Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626004C>A | CA412171957 | ARSA | c.1039G>T (p.Gly347Trp) c.781G>T (p.Gly261Trp) | gnomAD v4 |
| 22 | g.50626004C= | CA2410958788 | ARSA | c.1039G= (p.Gly347=) c.781G= (p.Gly261=) | |
| 22 | g.50626004C>G | CA412171961 | ARSA | c.1039G>C (p.Gly347Arg) c.781G>C (p.Gly261Arg) | |
| 22 | g.50626004C>T | CA412171963 | ARSA | c.1039G>A (p.Gly347Arg) c.781G>A (p.Gly261Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626005A>C | CA515248875 | ARSA | c.1038T>G (p.Ala346=) c.780T>G (p.Ala260=) | |
| 22 | g.50626005A>G | CA515248876 | ARSA | c.1038T>C (p.Ala346=) c.780T>C (p.Ala260=) | |
| 22 | g.50626005A>T | CA515248877 | ARSA | c.1038T>A (p.Ala346=) c.780T>A (p.Ala260=) | |
| 22 | g.50626006G>A | CA412171967 | ARSA | c.1037C>T (p.Ala346Val) c.779C>T (p.Ala260Val) | |
| 22 | g.50626006G>C | CA412171975 | ARSA | c.1037C>G (p.Ala346Gly) c.779C>G (p.Ala260Gly) | dbSNP gnomAD v2 |
| 22 | g.50626006G= | CA2410958789 | ARSA | c.1037C= (p.Ala346=) c.779C= (p.Ala260=) | |
| 22 | g.50626006G>T | CA412171978 | ARSA | c.1037C>A (p.Ala346Asp) c.779C>A (p.Ala260Asp) | gnomAD v4 |
| 22 | g.50626006_50626007del | CA913088703 | ARSA | c.1036_1037del (p.Ala346TrpfsTer13) c.778_779del (p.Ala260TrpfsTer13) | |
| 22 | g.50626006_50626007delinsGC | CA2410958790 | ARSA | c.1036_1037delinsGC (p.Ala346=) c.778_779delinsGC (p.Ala260=) | |
| 22 | g.50626007C>A | CA412171999 | ARSA | c.1036G>T (p.Ala346Ser) c.778G>T (p.Ala260Ser) | gnomAD v4 |
| 22 | g.50626007C>G | CA412172002 | ARSA | c.1036G>C (p.Ala346Pro) c.778G>C (p.Ala260Pro) | |
| 22 | g.50626007C>T | CA412171984 | ARSA | c.1036G>A (p.Ala346Thr) c.778G>A (p.Ala260Thr) | gnomAD v4 |
| 22 | g.50626008del | CA658824684 | ARSA | c.1036del (p.Ala346LeufsTer?) c.778del (p.Ala260LeufsTer?) c.1036del (p.Ala346LeufsTer29) | ClinVar dbSNP |
| 22 | g.50626008C>A | CA515248878 | ARSA | c.1035G>T (p.Leu345=) c.777G>T (p.Leu259=) | |
| 22 | g.50626008C>G | CA515248879 | ARSA | c.1035G>C (p.Leu345=) c.777G>C (p.Leu259=) | ClinVar dbSNP |
| 22 | g.50626008C>T | CA515248880 | ARSA | c.1035G>A (p.Leu345=) c.777G>A (p.Leu259=) | |
| 22 | g.50626009A>C | CA412172009 | ARSA | c.1034T>G (p.Leu345Arg) c.776T>G (p.Leu259Arg) | |
| 22 | g.50626009A>G | CA412172018 | ARSA | c.1034T>C (p.Leu345Pro) c.776T>C (p.Leu259Pro) | |
| 22 | g.50626009A>T | CA412172023 | ARSA | c.1034T>A (p.Leu345Gln) c.776T>A (p.Leu259Gln) | |
| 22 | g.50626009_50626010delinsAG | CA2410958791 | ARSA | c.1033_1034delinsCT (p.Leu345=) c.775_776delinsCT (p.Leu259=) | |
| 22 | g.50626010G>A | CA515248882 | ARSA | c.1033C>T (p.Leu345=) c.775C>T (p.Leu259=) | ClinVar |
| 22 | g.50626010G>C | CA10324838 | ARSA | c.1033C>G (p.Leu345Val) c.775C>G (p.Leu259Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626010G= | CA2410958792 | ARSA | c.1033C= (p.Leu345=) c.775C= (p.Leu259=) | |
| 22 | g.50626010G>T | CA412172027 | ARSA | c.1033C>A (p.Leu345Met) c.775C>A (p.Leu259Met) | gnomAD v4 |
| 22 | g.50626012del | CA754068495 | ARSA | c.1033del (p.Leu345TrpfsTer?) c.775del (p.Leu259TrpfsTer?) c.1033del (p.Leu345TrpfsTer30) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626011G>A | CA515248884 | ARSA | c.1032C>T (p.Ala344=) c.774C>T (p.Ala258=) | |
| 22 | g.50626011G>C | CA515248885 | ARSA | c.1032C>G (p.Ala344=) c.774C>G (p.Ala258=) | |
| 22 | g.50626011G>T | CA515248883 | ARSA | c.1032C>A (p.Ala344=) c.774C>A (p.Ala258=) | gnomAD v4 |
| 22 | g.50626012G>A | CA412172031 | ARSA | c.1031C>T (p.Ala344Val) c.773C>T (p.Ala258Val) | dbSNP gnomAD v4 |
| 22 | g.50626012G>C | CA412172038 | ARSA | c.1031C>G (p.Ala344Gly) c.773C>G (p.Ala258Gly) | |
| 22 | g.50626012G= | CA2410958793 | ARSA | c.1031C= (p.Ala344=) c.773C= (p.Ala258=) | |
| 22 | g.50626012G>T | CA412172050 | ARSA | c.1031C>A (p.Ala344Asp) c.773C>A (p.Ala258Asp) | gnomAD v4 |
| 22 | g.50626013del | CA2580100077 | ARSA | c.1030del (p.Ala344ProfsTer?) c.772del (p.Ala258ProfsTer?) | ClinVar |
| 22 | g.50626013C>A | CA412172067 | ARSA | c.1030G>T (p.Ala344Ser) c.772G>T (p.Ala258Ser) | gnomAD v4 |
| 22 | g.50626013C>G | CA412172070 | ARSA | c.1030G>C (p.Ala344Pro) c.772G>C (p.Ala258Pro) | ClinVar |
| 22 | g.50626013C>T | CA412172072 | ARSA | c.1030G>A (p.Ala344Thr) c.772G>A (p.Ala258Thr) | |
| 22 | g.50626014T>A | CA515248886 | ARSA | c.1029A>T (p.Ala343=) c.771A>T (p.Ala257=) | |
| 22 | g.50626014T>C | CA515248887 | ARSA | c.1029A>G (p.Ala343=) c.771A>G (p.Ala257=) | |
| 22 | g.50626014T>G | CA515248888 | ARSA | c.1029A>C (p.Ala343=) c.771A>C (p.Ala257=) | |
| 22 | g.50626015G>A | CA10324839 | ARSA | c.1028C>T (p.Ala343Val) c.770C>T (p.Ala257Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626015G>C | CA412172097 | ARSA | c.1028C>G (p.Ala343Gly) c.770C>G (p.Ala257Gly) | |
| 22 | g.50626015G= | CA2410958794 | ARSA | c.1028C= (p.Ala343=) c.770C= (p.Ala257=) | |
| 22 | g.50626015G>T | CA412172093 | ARSA | c.1028C>A (p.Ala343Glu) c.770C>A (p.Ala257Glu) | gnomAD v4 |
| 22 | g.50626016C>A | CA412172101 | ARSA | c.1027G>T (p.Ala343Ser) c.769G>T (p.Ala257Ser) | |
| 22 | g.50626016C= | CA2410958795 | ARSA | c.1027G= (p.Ala343=) c.769G= (p.Ala257=) | |
| 22 | g.50626016C>G | CA412172106 | ARSA | c.1027G>C (p.Ala343Pro) c.769G>C (p.Ala257Pro) | |
| 22 | g.50626016C>T | CA412172108 | ARSA | c.1027G>A (p.Ala343Thr) c.769G>A (p.Ala257Thr) | dbSNP gnomAD v4 |
| 22 | g.50626017C>A | CA515248889 | ARSA | c.1026G>T (p.Leu342=) c.768G>T (p.Leu256=) | gnomAD v4 |
| 22 | g.50626017C= | CA2410958796 | ARSA | c.1026G= (p.Leu342=) c.768G= (p.Leu256=) | |
| 22 | g.50626017C>G | CA515248890 | ARSA | c.1026G>C (p.Leu342=) c.768G>C (p.Leu256=) | |
| 22 | g.50626017C>T | CA515248891 | ARSA | c.1026G>A (p.Leu342=) c.768G>A (p.Leu256=) | dbSNP gnomAD v2 |
| 22 | g.50626018A>C | CA412172113 | ARSA | c.1025T>G (p.Leu342Arg) c.767T>G (p.Leu256Arg) | |
| 22 | g.50626018A>G | CA412172126 | ARSA | c.1025T>C (p.Leu342Pro) c.767T>C (p.Leu256Pro) | |
| 22 | g.50626018A>T | CA412172131 | ARSA | c.1025T>A (p.Leu342Gln) c.767T>A (p.Leu256Gln) | |
| 22 | g.50626019G>A | CA515248892 | ARSA | c.1024C>T (p.Leu342=) c.766C>T (p.Leu256=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626019G>C | CA412172136 | ARSA | c.1024C>G (p.Leu342Val) c.766C>G (p.Leu256Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626019G= | CA2410958797 | ARSA | c.1024C= (p.Leu342=) c.766C= (p.Leu256=) | |
| 22 | g.50626019G>T | CA412172142 | ARSA | c.1024C>A (p.Leu342Met) c.766C>A (p.Leu256Met) | |
| 22 | g.50626020G>A | CA515248893 | ARSA | c.1023C>T (p.Thr341=) c.765C>T (p.Thr255=) | gnomAD v4 |
| 22 | g.50626020G>C | CA515248894 | ARSA | c.1023C>G (p.Thr341=) c.765C>G (p.Thr255=) | |
| 22 | g.50626020G>T | CA515248895 | ARSA | c.1023C>A (p.Thr341=) c.765C>A (p.Thr255=) |