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.17108278G>A | CA2655111363 | IL17RA | c.986-29G>A (n.986-29G>A) c.1088-29G>A (n.1088-29G>A) | gnomAD v4 |
| 22 | g.17108278G>T | CA2655111364 | IL17RA | c.986-29G>T (n.986-29G>T) c.1088-29G>T (n.1088-29G>T) | gnomAD v4 |
| 22 | g.17108279G>A | CA2394928535 | IL17RA | c.986-28G>A (n.986-28G>A) c.1088-28G>A (n.1088-28G>A) | dbSNP gnomAD v4 |
| 22 | g.17108279G= | CA2394928534 | IL17RA | c.986-28G= (n.986-28G=) c.1088-28G= (n.1088-28G=) | |
| 22 | g.17108281C>A | CA2655111365 | IL17RA | c.986-26C>A (n.986-26C>A) c.1088-26C>A (n.1088-26C>A) | gnomAD v4 |
| 22 | g.17108283G>A | CA2655111366 | IL17RA | c.986-24G>A (n.986-24G>A) c.1088-24G>A (n.1088-24G>A) | gnomAD v4 |
| 22 | g.17108284C>A | CA2655111367 | IL17RA | c.986-23C>A (n.986-23C>A) c.1088-23C>A (n.1088-23C>A) | gnomAD v4 |
| 22 | g.17108284C= | CA2394928536 | IL17RA | c.986-23C= (n.986-23C=) c.1088-23C= (n.1088-23C=) | |
| 22 | g.17108284C>T | CA2394928537 | IL17RA | c.986-23C>T (n.986-23C>T) c.1088-23C>T (n.1088-23C>T) | dbSNP |
| 22 | g.17108285A>T | CA2655111368 | IL17RA | c.986-22A>T (n.986-22A>T) c.1088-22A>T (n.1088-22A>T) | gnomAD v4 |
| 22 | g.17108286T>C | CA2655111369 | IL17RA | c.986-21T>C (n.986-21T>C) c.1088-21T>C (n.1088-21T>C) | gnomAD v4 |
| 22 | g.17108287G>A | CA638501334 | IL17RA | c.986-20G>A (n.986-20G>A) c.1088-20G>A (n.1088-20G>A) | dbSNP gnomAD v2 |
| 22 | g.17108287G= | CA2394928538 | IL17RA | c.986-20G= (n.986-20G=) c.1088-20G= (n.1088-20G=) | |
| 22 | g.17108290T>C | CA2577637065 | IL17RA | c.986-17T>C (n.986-17T>C) c.1088-17T>C (n.1088-17T>C) | gnomAD v4 |
| 22 | g.17108290T>G | CA2655111370 | IL17RA | c.986-17T>G (n.986-17T>G) c.1088-17T>G (n.1088-17T>G) | gnomAD v4 |
| 22 | g.17108291G>A | CA10086672 | IL17RA | c.986-16G>A (n.986-16G>A) c.1088-16G>A (n.1088-16G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.17108291G= | CA2394928539 | IL17RA | c.986-16G= (n.986-16G=) c.1088-16G= (n.1088-16G=) | |
| 22 | g.17108292G>A | CA321152273 | IL17RA | c.986-15G>A (n.986-15G>A) c.1088-15G>A (n.1088-15G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108292G= | CA2394928540 | IL17RA | c.986-15G= (n.986-15G=) c.1088-15G= (n.1088-15G=) | |
| 22 | g.17108292G>T | CA2655111371 | IL17RA | c.986-15G>T (n.986-15G>T) c.1088-15G>T (n.1088-15G>T) | gnomAD v4 |
| 22 | g.17108293T>G | CA2655111372 | IL17RA | c.986-14T>G (n.986-14T>G) c.1088-14T>G (n.1088-14T>G) | gnomAD v4 |
| 22 | g.17108294C>A | CA2655111373 | IL17RA | c.986-13C>A (n.986-13C>A) c.1088-13C>A (n.1088-13C>A) | gnomAD v4 |
| 22 | g.17108295T>C | CA2655111374 | IL17RA | c.986-12T>C (n.986-12T>C) c.1088-12T>C (n.1088-12T>C) | gnomAD v4 |
| 22 | g.17108296T>C | CA2655111375 | IL17RA | c.986-11T>C (n.986-11T>C) c.1088-11T>C (n.1088-11T>C) | gnomAD v4 |
| 22 | g.17108297G>C | CA321152274 | IL17RA | c.986-10G>C (n.986-10G>C) c.1088-10G>C (n.1088-10G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108297G= | CA2394928541 | IL17RA | c.986-10G= (n.986-10G=) c.1088-10G= (n.1088-10G=) | |
| 22 | g.17108297G>T | CA751269755 | IL17RA | c.986-10G>T (n.986-10G>T) c.1088-10G>T (n.1088-10G>T) | dbSNP |
| 22 | g.17108301C>T | CA645610561 | IL17RA | c.986-6C>T (n.986-6C>T) c.1088-6C>T (n.1088-6C>T) | COSMIC |
| 22 | g.17108302C= | CA2394928542 | IL17RA | c.986-5C= (n.986-5C=) c.1088-5C= (n.1088-5C=) | |
| 22 | g.17108302C>T | CA638501337 | IL17RA | c.986-5C>T (n.986-5C>T) c.1088-5C>T (n.1088-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.17108303T>G | CA1023897948 | IL17RA | c.986-4T>G (n.986-4T>G) c.1088-4T>G (n.1088-4T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.17108303T= | CA2394928543 | IL17RA | c.986-4T= (n.986-4T=) c.1088-4T= (n.1088-4T=) | |
| 22 | g.17108305A= | CA2394928544 | IL17RA | c.986-2A= (n.986-2A=) c.1088-2A= (n.1088-2A=) | |
| 22 | g.17108305A>C | CA321152276 | IL17RA | c.986-2A>C (n.986-2A>C) c.1088-2A>C (n.1088-2A>C) | dbSNP |
| 22 | g.17108305A>G | CA410215935 | IL17RA | c.986-2A>G (n.986-2A>G) c.1088-2A>G (n.1088-2A>G) | |
| 22 | g.17108305A>T | CA410215936 | IL17RA | c.986-2A>T (n.986-2A>T) c.1088-2A>T (n.1088-2A>T) | |
| 22 | g.17108306G>A | CA410215937 | IL17RA | c.986-1G>A (n.986-1G>A) c.1088-1G>A (n.1088-1G>A) | |
| 22 | g.17108306G>C | CA410215938 | IL17RA | c.986-1G>C (n.986-1G>C) c.1088-1G>C (n.1088-1G>C) | |
| 22 | g.17108306G= | CA2394928545 | IL17RA | c.986-1G= (n.986-1G=) c.1088-1G= (n.1088-1G=) | |
| 22 | g.17108306G>T | CA410215939 | IL17RA | c.986-1G>T (n.986-1G>T) c.1088-1G>T (n.1088-1G>T) | dbSNP |
| 22 | g.17108307A= | CA2394928546 | IL17RA | c.986A= (p.Asp329=) c.1088A= (p.Asp363=) | |
| 22 | g.17108307A>C | CA410215940 | IL17RA | c.986A>C (p.Asp329Ala) c.1088A>C (p.Asp363Ala) | |
| 22 | g.17108307A>G | CA410215941 | IL17RA | c.986A>G (p.Asp329Gly) c.1088A>G (p.Asp363Gly) | dbSNP |
| 22 | g.17108307A>T | CA410215942 | IL17RA | c.986A>T (p.Asp329Val) c.1088A>T (p.Asp363Val) | |
| 22 | g.17108308T>A | CA410215943 | IL17RA | c.987T>A (p.Asp329Glu) c.1089T>A (p.Asp363Glu) | |
| 22 | g.17108308T>C | CA512870687 | IL17RA | c.987T>C (p.Asp329=) c.1089T>C (p.Asp363=) | |
| 22 | g.17108308T>G | CA410215944 | IL17RA | c.987T>G (p.Asp329Glu) c.1089T>G (p.Asp363Glu) | dbSNP |
| 22 | g.17108308T= | CA2394928547 | IL17RA | c.987T= (p.Asp329=) c.1089T= (p.Asp363=) | |
| 22 | g.17108309G>A | CA410215945 | IL17RA | c.988G>A (p.Gly330Ser) c.1090G>A (p.Gly364Ser) | |
| 22 | g.17108309G>C | CA410215947 | IL17RA | c.988G>C (p.Gly330Arg) c.1090G>C (p.Gly364Arg) | |
| 22 | g.17108309G>T | CA410215946 | IL17RA | c.988G>T (p.Gly330Cys) c.1090G>T (p.Gly364Cys) | |
| 22 | g.17108310G>A | CA410215948 | IL17RA | c.989G>A (p.Gly330Asp) c.1091G>A (p.Gly364Asp) | gnomAD v4 |
| 22 | g.17108310G>C | CA410215950 | IL17RA | c.989G>C (p.Gly330Ala) c.1091G>C (p.Gly364Ala) | dbSNP gnomAD v4 |
| 22 | g.17108310G= | CA2394928548 | IL17RA | c.989G= (p.Gly330=) c.1091G= (p.Gly364=) | |
| 22 | g.17108310G>T | CA410215949 | IL17RA | c.989G>T (p.Gly330Val) c.1091G>T (p.Gly364Val) | |
| 22 | g.17108311C>A | CA512870689 | IL17RA | c.990C>A (p.Gly330=) c.1092C>A (p.Gly364=) | |
| 22 | g.17108311C>G | CA512870690 | IL17RA | c.990C>G (p.Gly330=) c.1092C>G (p.Gly364=) | |
| 22 | g.17108311C>T | CA512870691 | IL17RA | c.990C>T (p.Gly330=) c.1092C>T (p.Gly364=) | gnomAD v4 |
| 22 | g.17108312C>A | CA410215951 | IL17RA | c.991C>A (p.Leu331Met) c.1093C>A (p.Leu365Met) | |
| 22 | g.17108312C= | CA2394928549 | IL17RA | c.991C= (p.Leu331=) c.1093C= (p.Leu365=) | |
| 22 | g.17108312C>G | CA410215952 | IL17RA | c.991C>G (p.Leu331Val) c.1093C>G (p.Leu365Val) | |
| 22 | g.17108312C>T | CA512870692 | IL17RA | c.991C>T (p.Leu331=) c.1093C>T (p.Leu365=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108313T>A | CA410215953 | IL17RA | c.992T>A (p.Leu331Gln) c.1094T>A (p.Leu365Gln) | |
| 22 | g.17108313T>C | CA410215954 | IL17RA | c.992T>C (p.Leu331Pro) c.1094T>C (p.Leu365Pro) | |
| 22 | g.17108313T>G | CA410215955 | IL17RA | c.992T>G (p.Leu331Arg) c.1094T>G (p.Leu365Arg) | |
| 22 | g.17108314G>A | CA512870693 | IL17RA | c.993G>A (p.Leu331=) c.1095G>A (p.Leu365=) | |
| 22 | g.17108314G>C | CA512870694 | IL17RA | c.993G>C (p.Leu331=) c.1095G>C (p.Leu365=) | gnomAD v4 |
| 22 | g.17108314G>T | CA512870695 | IL17RA | c.993G>T (p.Leu331=) c.1095G>T (p.Leu365=) | |
| 22 | g.17108315C>A | CA410215956 | IL17RA | c.994C>A (p.Pro332Thr) c.1096C>A (p.Pro366Thr) | |
| 22 | g.17108315C= | CA2394928550 | IL17RA | c.994C= (p.Pro332=) c.1096C= (p.Pro366=) | |
| 22 | g.17108315C>G | CA410215957 | IL17RA | c.994C>G (p.Pro332Ala) c.1096C>G (p.Pro366Ala) | |
| 22 | g.17108315C>T | CA410215958 | IL17RA | c.994C>T (p.Pro332Ser) c.1096C>T (p.Pro366Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.17108316C>A | CA410215959 | IL17RA | c.995C>A (p.Pro332His) c.1097C>A (p.Pro366His) | |
| 22 | g.17108316C>G | CA410215960 | IL17RA | c.995C>G (p.Pro332Arg) c.1097C>G (p.Pro366Arg) | gnomAD v4 |
| 22 | g.17108316C>T | CA410215961 | IL17RA | c.995C>T (p.Pro332Leu) c.1097C>T (p.Pro366Leu) | gnomAD v4 |
| 22 | g.17108317T>A | CA512870696 | IL17RA | c.996T>A (p.Pro332=) c.1098T>A (p.Pro366=) | |
| 22 | g.17108317T>C | CA512870697 | IL17RA | c.996T>C (p.Pro332=) c.1098T>C (p.Pro366=) | |
| 22 | g.17108317T>G | CA512870698 | IL17RA | c.996T>G (p.Pro332=) c.1098T>G (p.Pro366=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108317T= | CA2394928551 | IL17RA | c.996T= (p.Pro332=) c.1098T= (p.Pro366=) | |
| 22 | g.17108318G>A | CA410215962 | IL17RA | c.997G>A (p.Ala333Thr) c.1099G>A (p.Ala367Thr) | |
| 22 | g.17108318G>C | CA410215964 | IL17RA | c.997G>C (p.Ala333Pro) c.1099G>C (p.Ala367Pro) | |
| 22 | g.17108318G>T | CA410215963 | IL17RA | c.997G>T (p.Ala333Ser) c.1099G>T (p.Ala367Ser) | |
| 22 | g.17108319C>A | CA321152277 | IL17RA | c.998C>A (p.Ala333Glu) c.1100C>A (p.Ala367Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.17108319C= | CA2394928552 | IL17RA | c.998C= (p.Ala333=) c.1100C= (p.Ala367=) | |
| 22 | g.17108319C>G | CA410215965 | IL17RA | c.998C>G (p.Ala333Gly) c.1100C>G (p.Ala367Gly) | |
| 22 | g.17108319C>T | CA10086673 | IL17RA | c.998C>T (p.Ala333Val) c.1100C>T (p.Ala367Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108320G>A | CA512870700 | IL17RA | c.999G>A (p.Ala333=) c.1101G>A (p.Ala367=) | dbSNP gnomAD v4 |
| 22 | g.17108320G>C | CA512870701 | IL17RA | c.999G>C (p.Ala333=) c.1101G>C (p.Ala367=) | |
| 22 | g.17108320G= | CA2394928553 | IL17RA | c.999G= (p.Ala333=) c.1101G= (p.Ala367=) | |
| 22 | g.17108320G>T | CA512870699 | IL17RA | c.999G>T (p.Ala333=) c.1101G>T (p.Ala367=) | |
| 22 | g.17108321G>A | CA410215966 | IL17RA | c.1000G>A (p.Ala334Thr) c.1102G>A (p.Ala368Thr) | ClinVar dbSNP |
| 22 | g.17108321G>C | CA410215967 | IL17RA | c.1000G>C (p.Ala334Pro) c.1102G>C (p.Ala368Pro) | |
| 22 | g.17108321G= | CA2394928554 | IL17RA | c.1000G= (p.Ala334=) c.1102G= (p.Ala368=) | |
| 22 | g.17108321G>T | CA410215968 | IL17RA | c.1000G>T (p.Ala334Ser) c.1102G>T (p.Ala368Ser) | |
| 22 | g.17108322C>A | CA410215969 | IL17RA | c.1001C>A (p.Ala334Asp) c.1103C>A (p.Ala368Asp) | |
| 22 | g.17108322C>G | CA410215970 | IL17RA | c.1001C>G (p.Ala334Gly) c.1103C>G (p.Ala368Gly) | |
| 22 | g.17108322C>T | CA410215971 | IL17RA | c.1001C>T (p.Ala334Val) c.1103C>T (p.Ala368Val) | gnomAD v4 |
| 22 | g.17108323T>A | CA512870703 | IL17RA | c.1002T>A (p.Ala334=) c.1104T>A (p.Ala368=) | |
| 22 | g.17108323T>C | CA321152278 | IL17RA | c.1002T>C (p.Ala334=) c.1104T>C (p.Ala368=) | dbSNP |
| 22 | g.17108323T>G | CA512870702 | IL17RA | c.1002T>G (p.Ala334=) c.1104T>G (p.Ala368=) | |
| 22 | g.17108323T= | CA2394928555 | IL17RA | c.1002T= (p.Ala334=) c.1104T= (p.Ala368=) | |
| 22 | g.17108324G>A | CA410215973 | IL17RA | c.1003G>A (p.Asp335Asn) c.1105G>A (p.Asp369Asn) | COSMIC |
| 22 | g.17108324G>C | CA410215974 | IL17RA | c.1003G>C (p.Asp335His) c.1105G>C (p.Asp369His) | ClinVar |
| 22 | g.17108324G>T | CA410215972 | IL17RA | c.1003G>T (p.Asp335Tyr) c.1105G>T (p.Asp369Tyr) | |
| 22 | g.17108325A>C | CA410215975 | IL17RA | c.1004A>C (p.Asp335Ala) c.1106A>C (p.Asp369Ala) | |
| 22 | g.17108325A>G | CA410215976 | IL17RA | c.1004A>G (p.Asp335Gly) c.1106A>G (p.Asp369Gly) | |
| 22 | g.17108325A>T | CA410215977 | IL17RA | c.1004A>T (p.Asp335Val) c.1106A>T (p.Asp369Val) | |
| 22 | g.17108326C>A | CA410215978 | IL17RA | c.1005C>A (p.Asp335Glu) c.1107C>A (p.Asp369Glu) | |
| 22 | g.17108326C>G | CA410215979 | IL17RA | c.1005C>G (p.Asp335Glu) c.1107C>G (p.Asp369Glu) | |
| 22 | g.17108326C>T | CA512870705 | IL17RA | c.1005C>T (p.Asp335=) c.1107C>T (p.Asp369=) | gnomAD v4 |
| 22 | g.17108327C>A | CA410215981 | IL17RA | c.1006C>A (p.Leu336Met) c.1108C>A (p.Leu370Met) | |
| 22 | g.17108327C>G | CA410215980 | IL17RA | c.1006C>G (p.Leu336Val) c.1108C>G (p.Leu370Val) | |
| 22 | g.17108327C>T | CA512870706 | IL17RA | c.1006C>T (p.Leu336=) c.1108C>T (p.Leu370=) | |
| 22 | g.17108328T>A | CA410215982 | IL17RA | c.1007T>A (p.Leu336Gln) c.1109T>A (p.Leu370Gln) | |
| 22 | g.17108328T>C | CA410215983 | IL17RA | c.1007T>C (p.Leu336Pro) c.1109T>C (p.Leu370Pro) | |
| 22 | g.17108328T>G | CA410215984 | IL17RA | c.1007T>G (p.Leu336Arg) c.1109T>G (p.Leu370Arg) | |
| 22 | g.17108329G>A | CA512870707 | IL17RA | c.1008G>A (p.Leu336=) c.1110G>A (p.Leu370=) | |
| 22 | g.17108329G>C | CA512870709 | IL17RA | c.1008G>C (p.Leu336=) c.1110G>C (p.Leu370=) | |
| 22 | g.17108329G>T | CA512870708 | IL17RA | c.1008G>T (p.Leu336=) c.1110G>T (p.Leu370=) | |
| 22 | g.17108330A>C | CA410215985 | IL17RA | c.1009A>C (p.Ile337Leu) c.1111A>C (p.Ile371Leu) | |
| 22 | g.17108330A>G | CA410215986 | IL17RA | c.1009A>G (p.Ile337Val) c.1111A>G (p.Ile371Val) | |
| 22 | g.17108330A>T | CA410215987 | IL17RA | c.1009A>T (p.Ile337Phe) c.1111A>T (p.Ile371Phe) | |
| 22 | g.17108331T>A | CA10086674 | IL17RA | c.1010T>A (p.Ile337Asn) c.1112T>A (p.Ile371Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.17108331T>C | CA410215989 | IL17RA | c.1010T>C (p.Ile337Thr) c.1112T>C (p.Ile371Thr) | dbSNP |
| 22 | g.17108331T>G | CA410215988 | IL17RA | c.1010T>G (p.Ile337Ser) c.1112T>G (p.Ile371Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.17108331T= | CA2394928556 | IL17RA | c.1010T= (p.Ile337=) c.1112T= (p.Ile371=) | |
| 22 | g.17108332C>A | CA512870710 | IL17RA | c.1011C>A (p.Ile337=) c.1113C>A (p.Ile371=) | gnomAD v4 |
| 22 | g.17108332C= | CA2394928557 | IL17RA | c.1011C= (p.Ile337=) c.1113C= (p.Ile371=) | |
| 22 | g.17108332C>G | CA410215990 | IL17RA | c.1011C>G (p.Ile337Met) c.1113C>G (p.Ile371Met) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.17108332C>T | CA321152283 | IL17RA | c.1011C>T (p.Ile337=) c.1113C>T (p.Ile371=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.17108337dup | CA751269822 | IL17RA | c.1016dup (p.Pro340ThrfsTer?) c.1118dup (p.Pro374ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.17108336_17108337dup | CA2655111377 | IL17RA | c.1015_1016dup (p.Pro340HisfsTer3) c.1117_1118dup (p.Pro374HisfsTer3) | gnomAD v4 |
| 22 | g.17108337del | CA2655111376 | IL17RA | c.1016del (p.Pro339HisfsTer3) c.1118del (p.Pro373HisfsTer3) | gnomAD v4 |
| 22 | g.17108333C>A | CA410215991 | IL17RA | c.1012C>A (p.Pro338Thr) c.1114C>A (p.Pro372Thr) | gnomAD v4 |
| 22 | g.17108333C= | CA2394928558 | IL17RA | c.1012C= (p.Pro338=) c.1114C= (p.Pro372=) | |
| 22 | g.17108333C>G | CA10086675 | IL17RA | c.1012C>G (p.Pro338Ala) c.1114C>G (p.Pro372Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.17108333C>T | CA410215992 | IL17RA | c.1012C>T (p.Pro338Ser) c.1114C>T (p.Pro372Ser) | |
| 22 | g.17108334C>A | CA410215993 | IL17RA | c.1013C>A (p.Pro338His) c.1115C>A (p.Pro372His) | |
| 22 | g.17108334C= | CA2394928559 | IL17RA | c.1013C= (p.Pro338=) c.1115C= (p.Pro372=) | |
| 22 | g.17108334C>G | CA410215994 | IL17RA | c.1013C>G (p.Pro338Arg) c.1115C>G (p.Pro372Arg) | gnomAD v4 |
| 22 | g.17108334C>T | CA410215995 | IL17RA | c.1013C>T (p.Pro338Leu) c.1115C>T (p.Pro372Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108335C>A | CA512870711 | IL17RA | c.1014C>A (p.Pro338=) c.1116C>A (p.Pro372=) | |
| 22 | g.17108335C= | CA2394928560 | IL17RA | c.1014C= (p.Pro338=) c.1116C= (p.Pro372=) | |
| 22 | g.17108335C>G | CA512870712 | IL17RA | c.1014C>G (p.Pro338=) c.1116C>G (p.Pro372=) | |
| 22 | g.17108335C>T | CA10086676 | IL17RA | c.1014C>T (p.Pro338=) c.1116C>T (p.Pro372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108336C>A | CA410215996 | IL17RA | c.1015C>A (p.Pro339Thr) c.1117C>A (p.Pro373Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.17108336C= | CA2394928561 | IL17RA | c.1015C= (p.Pro339=) c.1117C= (p.Pro373=) | |
| 22 | g.17108336C>G | CA10086677 | IL17RA | c.1015C>G (p.Pro339Ala) c.1117C>G (p.Pro373Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.17108336C>T | CA410215997 | IL17RA | c.1015C>T (p.Pro339Ser) c.1117C>T (p.Pro373Ser) | ClinVar dbSNP gnomAD v4 |
| 22 | g.17108337C>A | CA410215998 | IL17RA | c.1016C>A (p.Pro339Gln) c.1118C>A (p.Pro373Gln) | |
| 22 | g.17108337C= | CA2394928562 | IL17RA | c.1016C= (p.Pro339=) c.1118C= (p.Pro373=) | |
| 22 | g.17108337C>G | CA10086679 | IL17RA | c.1016C>G (p.Pro339Arg) c.1118C>G (p.Pro373Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108337C>T | CA10086678 | IL17RA | c.1016C>T (p.Pro339Leu) c.1118C>T (p.Pro373Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108338A>C | CA512870713 | IL17RA | c.1017A>C (p.Pro339=) c.1119A>C (p.Pro373=) | |
| 22 | g.17108338A>G | CA512870714 | IL17RA | c.1017A>G (p.Pro339=) c.1119A>G (p.Pro373=) | |
| 22 | g.17108338A>T | CA512870715 | IL17RA | c.1017A>T (p.Pro339=) c.1119A>T (p.Pro373=) | |
| 22 | g.17108339C>A | CA410216001 | IL17RA | c.1018C>A (p.Pro340Thr) c.1120C>A (p.Pro374Thr) | gnomAD v4 |
| 22 | g.17108339C= | CA2394928563 | IL17RA | c.1018C= (p.Pro340=) c.1120C= (p.Pro374=) | |
| 22 | g.17108339C>G | CA410215999 | IL17RA | c.1018C>G (p.Pro340Ala) c.1120C>G (p.Pro374Ala) | |
| 22 | g.17108339C>T | CA410216000 | IL17RA | c.1018C>T (p.Pro340Ser) c.1120C>T (p.Pro374Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 22 | g.17108340C>A | CA410216002 | IL17RA | c.1019C>A (p.Pro340Gln) c.1121C>A (p.Pro374Gln) | |
| 22 | g.17108340C= | CA2394928564 | IL17RA | c.1019C= (p.Pro340=) c.1121C= (p.Pro374=) | |
| 22 | g.17108340C>G | CA410216003 | IL17RA | c.1019C>G (p.Pro340Arg) c.1121C>G (p.Pro374Arg) | gnomAD v4 |
| 22 | g.17108340C>T | CA410216004 | IL17RA | c.1019C>T (p.Pro340Leu) c.1121C>T (p.Pro374Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.17108341G>A | CA10086680 | IL17RA | c.1020G>A (p.Pro340=) c.1122G>A (p.Pro374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108341G>C | CA512870716 | IL17RA | c.1020G>C (p.Pro340=) c.1122G>C (p.Pro374=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108341G= | CA2394928565 | IL17RA | c.1020G= (p.Pro340=) c.1122G= (p.Pro374=) | |
| 22 | g.17108341G>T | CA512870717 | IL17RA | c.1020G>T (p.Pro340=) c.1122G>T (p.Pro374=) | |
| 22 | g.17108342C>A | CA410216005 | IL17RA | c.1021C>A (p.Leu341Met) c.1123C>A (p.Leu375Met) | |
| 22 | g.17108342C>G | CA410216006 | IL17RA | c.1021C>G (p.Leu341Val) c.1123C>G (p.Leu375Val) | |
| 22 | g.17108342C>T | CA512870718 | IL17RA | c.1021C>T (p.Leu341=) c.1123C>T (p.Leu375=) | |
| 22 | g.17108343T>A | CA410216007 | IL17RA | c.1022T>A (p.Leu341Gln) c.1124T>A (p.Leu375Gln) | |
| 22 | g.17108343T>C | CA410216008 | IL17RA | c.1022T>C (p.Leu341Pro) c.1124T>C (p.Leu375Pro) | COSMIC |
| 22 | g.17108343T>G | CA410216009 | IL17RA | c.1022T>G (p.Leu341Arg) c.1124T>G (p.Leu375Arg) | |
| 22 | g.17108344G>A | CA512870721 | IL17RA | c.1023G>A (p.Leu341=) c.1125G>A (p.Leu375=) | |
| 22 | g.17108344G>C | CA512870719 | IL17RA | c.1023G>C (p.Leu341=) c.1125G>C (p.Leu375=) | |
| 22 | g.17108344G>T | CA512870720 | IL17RA | c.1023G>T (p.Leu341=) c.1125G>T (p.Leu375=) | |
| 22 | g.17108345A>C | CA410216012 | IL17RA | c.1024A>C (p.Lys342Gln) c.1126A>C (p.Lys376Gln) | |
| 22 | g.17108345A>G | CA410216011 | IL17RA | c.1024A>G (p.Lys342Glu) c.1126A>G (p.Lys376Glu) | |
| 22 | g.17108345A>T | CA410216010 | IL17RA | c.1024A>T (p.Lys342Ter) c.1126A>T (p.Lys376Ter) | |
| 22 | g.17108346A>C | CA410216013 | IL17RA | c.1025A>C (p.Lys342Thr) c.1127A>C (p.Lys376Thr) | gnomAD v4 |
| 22 | g.17108346A>G | CA410216014 | IL17RA | c.1025A>G (p.Lys342Arg) c.1127A>G (p.Lys376Arg) | |
| 22 | g.17108346A>T | CA410216015 | IL17RA | c.1025A>T (p.Lys342Met) c.1127A>T (p.Lys376Met) | |
| 22 | g.17108347G>A | CA512870722 | IL17RA | c.1026G>A (p.Lys342=) c.1128G>A (p.Lys376=) | ClinVar dbSNP |
| 22 | g.17108347G>C | CA410216016 | IL17RA | c.1026G>C (p.Lys342Asn) c.1128G>C (p.Lys376Asn) | |
| 22 | g.17108347G>T | CA410216017 | IL17RA | c.1026G>T (p.Lys342Asn) c.1128G>T (p.Lys376Asn) | |
| 22 | g.17108348C>A | CA410216018 | IL17RA | c.1027C>A (p.Pro343Thr) c.1129C>A (p.Pro377Thr) | |
| 22 | g.17108348C>G | CA410216019 | IL17RA | c.1027C>G (p.Pro343Ala) c.1129C>G (p.Pro377Ala) | |
| 22 | g.17108348C>T | CA410216020 | IL17RA | c.1027C>T (p.Pro343Ser) c.1129C>T (p.Pro377Ser) | |
| 22 | g.17108350del | CA2655111378 | IL17RA | c.1029del (p.Arg344GlyfsTer19) c.1131del (p.Arg378GlyfsTer19) | gnomAD v4 |
| 22 | g.17108349C>A | CA410216021 | IL17RA | c.1028C>A (p.Pro343His) c.1130C>A (p.Pro377His) | |
| 22 | g.17108349C>G | CA410216022 | IL17RA | c.1028C>G (p.Pro343Arg) c.1130C>G (p.Pro377Arg) | |
| 22 | g.17108349C>T | CA410216023 | IL17RA | c.1028C>T (p.Pro343Leu) c.1130C>T (p.Pro377Leu) | gnomAD v4 |
| 22 | g.17108350C>A | CA512870725 | IL17RA | c.1029C>A (p.Pro343=) c.1131C>A (p.Pro377=) | |
| 22 | g.17108350C= | CA2394928566 | IL17RA | c.1029C= (p.Pro343=) c.1131C= (p.Pro377=) | |
| 22 | g.17108350C>G | CA512870723 | IL17RA | c.1029C>G (p.Pro343=) c.1131C>G (p.Pro377=) | |
| 22 | g.17108350C>T | CA512870724 | IL17RA | c.1029C>T (p.Pro343=) c.1131C>T (p.Pro377=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.17108351A= | CA2394928567 | IL17RA | c.1030A= (p.Arg344=) c.1132A= (p.Arg378=) | |
| 22 | g.17108351A>C | CA512870726 | IL17RA | c.1030A>C (p.Arg344=) c.1132A>C (p.Arg378=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.17108351A>G | CA410216024 | IL17RA | c.1030A>G (p.Arg344Gly) c.1132A>G (p.Arg378Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.17108351A>T | CA410216025 | IL17RA | c.1030A>T (p.Arg344Trp) c.1132A>T (p.Arg378Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108352G>A | CA410216027 | IL17RA | c.1031G>A (p.Arg344Lys) c.1133G>A (p.Arg378Lys) | |
| 22 | g.17108352G>C | CA410216028 | IL17RA | c.1031G>C (p.Arg344Thr) c.1133G>C (p.Arg378Thr) | |
| 22 | g.17108352G>T | CA410216026 | IL17RA | c.1031G>T (p.Arg344Met) c.1133G>T (p.Arg378Met) | |
| 22 | g.17108353G>A | CA10086681 | IL17RA | c.1032G>A (p.Arg344=) c.1134G>A (p.Arg378=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108353G>C | CA410216029 | IL17RA | c.1032G>C (p.Arg344Ser) c.1134G>C (p.Arg378Ser) | |
| 22 | g.17108353G= | CA2394928568 | IL17RA | c.1032G= (p.Arg344=) c.1134G= (p.Arg378=) | |
| 22 | g.17108353G>T | CA410216030 | IL17RA | c.1032G>T (p.Arg344Ser) c.1134G>T (p.Arg378Ser) | |
| 22 | g.17108354A>C | CA410216031 | IL17RA | c.1033A>C (p.Lys345Gln) c.1135A>C (p.Lys379Gln) | |
| 22 | g.17108354A>G | CA410216032 | IL17RA | c.1033A>G (p.Lys345Glu) c.1135A>G (p.Lys379Glu) | gnomAD v4 |
| 22 | g.17108354A>T | CA410216033 | IL17RA | c.1033A>T (p.Lys345Ter) c.1135A>T (p.Lys379Ter) | |
| 22 | g.17108355A>C | CA410216036 | IL17RA | c.1034A>C (p.Lys345Thr) c.1136A>C (p.Lys379Thr) | |
| 22 | g.17108355A>G | CA410216034 | IL17RA | c.1034A>G (p.Lys345Arg) c.1136A>G (p.Lys379Arg) | |
| 22 | g.17108355A>T | CA410216035 | IL17RA | c.1034A>T (p.Lys345Met) c.1136A>T (p.Lys379Met) | |
| 22 | g.17108356G>A | CA10086682 | IL17RA | c.1035G>A (p.Lys345=) c.1137G>A (p.Lys379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108356G>C | CA410216037 | IL17RA | c.1035G>C (p.Lys345Asn) c.1137G>C (p.Lys379Asn) | dbSNP gnomAD v4 |
| 22 | g.17108356G= | CA2394928569 | IL17RA | c.1035G= (p.Lys345=) c.1137G= (p.Lys379=) | |
| 22 | g.17108356G>T | CA410216038 | IL17RA | c.1035G>T (p.Lys345Asn) c.1137G>T (p.Lys379Asn) | |
| 22 | g.17108357G>A | CA410216039 | IL17RA | c.1036G>A (p.Val346Ile) c.1138G>A (p.Val380Ile) | |
| 22 | g.17108357G>C | CA410216040 | IL17RA | c.1036G>C (p.Val346Leu) c.1138G>C (p.Val380Leu) | |
| 22 | g.17108357G>T | CA410216041 | IL17RA | c.1036G>T (p.Val346Phe) c.1138G>T (p.Val380Phe) | gnomAD v4 |
| 22 | g.17108358T>A | CA410216042 | IL17RA | c.1037T>A (p.Val346Asp) c.1139T>A (p.Val380Asp) | |
| 22 | g.17108358T>C | CA410216044 | IL17RA | c.1037T>C (p.Val346Ala) c.1139T>C (p.Val380Ala) | |
| 22 | g.17108358T>G | CA410216043 | IL17RA | c.1037T>G (p.Val346Gly) c.1139T>G (p.Val380Gly) | |
| 22 | g.17108359C>A | CA512870727 | IL17RA | c.1038C>A (p.Val346=) c.1140C>A (p.Val380=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108359C= | CA2394928570 | IL17RA | c.1038C= (p.Val346=) c.1140C= (p.Val380=) | |
| 22 | g.17108359C>G | CA512870728 | IL17RA | c.1038C>G (p.Val346=) c.1140C>G (p.Val380=) | |
| 22 | g.17108359C>T | CA512870729 | IL17RA | c.1038C>T (p.Val346=) c.1140C>T (p.Val380=) | |
| 22 | g.17108360T>A | CA410216045 | IL17RA | c.1039T>A (p.Trp347Arg) c.1141T>A (p.Trp381Arg) | gnomAD v4 |
| 22 | g.17108360T>C | CA410216046 | IL17RA | c.1039T>C (p.Trp347Arg) c.1141T>C (p.Trp381Arg) | |
| 22 | g.17108360T>G | CA410216047 | IL17RA | c.1039T>G (p.Trp347Gly) c.1141T>G (p.Trp381Gly) | |
| 22 | g.17108361G>A | CA410216048 | IL17RA | c.1040G>A (p.Trp347Ter) c.1142G>A (p.Trp381Ter) | |
| 22 | g.17108361G>C | CA410216049 | IL17RA | c.1040G>C (p.Trp347Ser) c.1142G>C (p.Trp381Ser) | |
| 22 | g.17108361G>T | CA410216050 | IL17RA | c.1040G>T (p.Trp347Leu) c.1142G>T (p.Trp381Leu) | |
| 22 | g.17108362G>A | CA410216051 | IL17RA | c.1041G>A (p.Trp347Ter) c.1143G>A (p.Trp381Ter) | |
| 22 | g.17108362G>C | CA410216052 | IL17RA | c.1041G>C (p.Trp347Cys) c.1143G>C (p.Trp381Cys) | gnomAD v4 COSMIC |
| 22 | g.17108362G>T | CA410216053 | IL17RA | c.1041G>T (p.Trp347Cys) c.1143G>T (p.Trp381Cys) | |
| 22 | g.17108363A>C | CA410216054 | IL17RA | c.1042A>C (p.Ile348Leu) c.1144A>C (p.Ile382Leu) | |
| 22 | g.17108363A>G | CA410216055 | IL17RA | c.1042A>G (p.Ile348Val) c.1144A>G (p.Ile382Val) | |
| 22 | g.17108363A>T | CA410216056 | IL17RA | c.1042A>T (p.Ile348Phe) c.1144A>T (p.Ile382Phe) | |
| 22 | g.17108364T>A | CA410216059 | IL17RA | c.1043T>A (p.Ile348Asn) c.1145T>A (p.Ile382Asn) | |
| 22 | g.17108364T>C | CA410216058 | IL17RA | c.1043T>C (p.Ile348Thr) c.1145T>C (p.Ile382Thr) | |
| 22 | g.17108364T>G | CA410216057 | IL17RA | c.1043T>G (p.Ile348Ser) c.1145T>G (p.Ile382Ser) | |
| 22 | g.17108365C>A | CA512870731 | IL17RA | c.1044C>A (p.Ile348=) c.1146C>A (p.Ile382=) | |
| 22 | g.17108365C= | CA2394928571 | IL17RA | c.1044C= (p.Ile348=) c.1146C= (p.Ile382=) | |
| 22 | g.17108365C>G | CA410216060 | IL17RA | c.1044C>G (p.Ile348Met) c.1146C>G (p.Ile382Met) | |
| 22 | g.17108365C>T | CA512870730 | IL17RA | c.1044C>T (p.Ile348=) c.1146C>T (p.Ile382=) | dbSNP gnomAD v2 |
| 22 | g.17108366A= | CA2394928573 | IL17RA | c.1045A= (p.Ile349=) c.1147A= (p.Ile383=) | |
| 22 | g.17108366A>C | CA410216062 | IL17RA | c.1045A>C (p.Ile349Leu) c.1147A>C (p.Ile383Leu) | |
| 22 | g.17108366A>G | CA410216061 | IL17RA | c.1045A>G (p.Ile349Val) c.1147A>G (p.Ile383Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.17108366A>T | CA410216063 | IL17RA | c.1045A>T (p.Ile349Phe) c.1147A>T (p.Ile383Phe) | |
| 22 | g.17108366dup | CA2394928572 | IL17RA | c.1045dup (p.Ile349AsnfsTer?) c.1147dup (p.Ile383AsnfsTer?) | dbSNP |
| 22 | g.17108367T>A | CA410216064 | IL17RA | c.1046T>A (p.Ile349Asn) c.1148T>A (p.Ile383Asn) | |
| 22 | g.17108367T>C | CA410216066 | IL17RA | c.1046T>C (p.Ile349Thr) c.1148T>C (p.Ile383Thr) | gnomAD v4 |
| 22 | g.17108367T>G | CA410216065 | IL17RA | c.1046T>G (p.Ile349Ser) c.1148T>G (p.Ile383Ser) | |
| 22 | g.17108368C>A | CA512870732 | IL17RA | c.1047C>A (p.Ile349=) c.1149C>A (p.Ile383=) | gnomAD v4 |
| 22 | g.17108368C= | CA2394928574 | IL17RA | c.1047C= (p.Ile349=) c.1149C= (p.Ile383=) | |
| 22 | g.17108368C>G | CA410216067 | IL17RA | c.1047C>G (p.Ile349Met) c.1149C>G (p.Ile383Met) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.17108368C>T | CA512870733 | IL17RA | c.1047C>T (p.Ile349=) c.1149C>T (p.Ile383=) | |
| 22 | g.17108369T>A | CA410216068 | IL17RA | c.1048T>A (p.Tyr350Asn) c.1150T>A (p.Tyr384Asn) | |
| 22 | g.17108369T>C | CA410216069 | IL17RA | c.1048T>C (p.Tyr350His) c.1150T>C (p.Tyr384His) | |
| 22 | g.17108369T>G | CA410216070 | IL17RA | c.1048T>G (p.Tyr350Asp) c.1150T>G (p.Tyr384Asp) | |
| 22 | g.17108370A>C | CA410216071 | IL17RA | c.1049A>C (p.Tyr350Ser) c.1151A>C (p.Tyr384Ser) | |
| 22 | g.17108370A>G | CA410216072 | IL17RA | c.1049A>G (p.Tyr350Cys) c.1151A>G (p.Tyr384Cys) | |
| 22 | g.17108370A>T | CA410216073 | IL17RA | c.1049A>T (p.Tyr350Phe) c.1151A>T (p.Tyr384Phe) | dbSNP |
| 22 | g.17108371C>A | CA410216074 | IL17RA | c.1050C>A (p.Tyr350Ter) c.1152C>A (p.Tyr384Ter) | |
| 22 | g.17108371C>G | CA410216075 | IL17RA | c.1050C>G (p.Tyr350Ter) c.1152C>G (p.Tyr384Ter) | |
| 22 | g.17108371C>T | CA512870734 | IL17RA | c.1050C>T (p.Tyr350=) c.1152C>T (p.Tyr384=) | |
| 22 | g.17108372T>A | CA410216076 | IL17RA | c.1051T>A (p.Ser351Thr) c.1153T>A (p.Ser385Thr) | |
| 22 | g.17108372T>C | CA410216077 | IL17RA | c.1051T>C (p.Ser351Pro) c.1153T>C (p.Ser385Pro) | |
| 22 | g.17108372T>G | CA410216078 | IL17RA | c.1051T>G (p.Ser351Ala) c.1153T>G (p.Ser385Ala) | |
| 22 | g.17108373C>A | CA410216081 | IL17RA | c.1052C>A (p.Ser351Ter) c.1154C>A (p.Ser385Ter) | |
| 22 | g.17108373C= | CA2394928575 | IL17RA | c.1052C= (p.Ser351=) c.1154C= (p.Ser385=) | |
| 22 | g.17108373C>G | CA410216079 | IL17RA | c.1052C>G (p.Ser351Ter) c.1154C>G (p.Ser385Ter) | |
| 22 | g.17108373C>T | CA410216080 | IL17RA | c.1052C>T (p.Ser351Leu) c.1154C>T (p.Ser385Leu) | dbSNP gnomAD v4 |
| 22 | g.17108374A>C | CA512870735 | IL17RA | c.1053A>C (p.Ser351=) c.1155A>C (p.Ser385=) | |
| 22 | g.17108374A>G | CA512870736 | IL17RA | c.1053A>G (p.Ser351=) c.1155A>G (p.Ser385=) | |
| 22 | g.17108374A>T | CA512870737 | IL17RA | c.1053A>T (p.Ser351=) c.1155A>T (p.Ser385=) | |
| 22 | g.17108375G>A | CA410216082 | IL17RA | c.1054G>A (p.Ala352Thr) c.1156G>A (p.Ala386Thr) | |
| 22 | g.17108375G>C | CA410216083 | IL17RA | c.1054G>C (p.Ala352Pro) c.1156G>C (p.Ala386Pro) | |
| 22 | g.17108375G>T | CA410216084 | IL17RA | c.1054G>T (p.Ala352Ser) c.1156G>T (p.Ala386Ser) | |
| 22 | g.17108376C>A | CA410216085 | IL17RA | c.1055C>A (p.Ala352Asp) c.1157C>A (p.Ala386Asp) | |
| 22 | g.17108376C= | CA2394928576 | IL17RA | c.1055C= (p.Ala352=) c.1157C= (p.Ala386=) | |
| 22 | g.17108376C>G | CA410216086 | IL17RA | c.1055C>G (p.Ala352Gly) c.1157C>G (p.Ala386Gly) | dbSNP gnomAD v4 |
| 22 | g.17108376C>T | CA410216087 | IL17RA | c.1055C>T (p.Ala352Val) c.1157C>T (p.Ala386Val) | gnomAD v4 |
| 22 | g.17108377C>A | CA512870738 | IL17RA | c.1056C>A (p.Ala352=) c.1158C>A (p.Ala386=) | |
| 22 | g.17108377C= | CA2394928577 | IL17RA | c.1056C= (p.Ala352=) c.1158C= (p.Ala386=) | |
| 22 | g.17108377C>G | CA321152326 | IL17RA | c.1056C>G (p.Ala352=) c.1158C>G (p.Ala386=) | dbSNP gnomAD v4 |
| 22 | g.17108377C>T | CA10086683 | IL17RA | c.1056C>T (p.Ala352=) c.1158C>T (p.Ala386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.17108378G>A | CA16042239 | IL17RA | c.1057G>A (p.Asp353Asn) c.1159G>A (p.Asp387Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
| 22 | g.17108378G>C | CA410216088 | IL17RA | c.1057G>C (p.Asp353His) c.1159G>C (p.Asp387His) | |
| 22 | g.17108378G= | CA2394928578 | IL17RA | c.1057G= (p.Asp353=) c.1159G= (p.Asp387=) | |
| 22 | g.17108378G>T | CA410216089 | IL17RA | c.1057G>T (p.Asp353Tyr) c.1159G>T (p.Asp387Tyr) | gnomAD v4 |