Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41755748G>A | CA399490189 | JUP | c.2234C>T (p.Ala745Val) c.2285C>T (p.Ala762Val) | |
17 | g.41755748G>C | CA399490190 | JUP | c.2234C>G (p.Ala745Gly) c.2285C>G (p.Ala762Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41755748G= | CA2260169421 | JUP | c.2234C= (p.Ala745=) c.2285C= (p.Ala762=) | |
17 | g.41755748G>T | CA399490191 | JUP | c.2234C>A (p.Ala745Asp) c.2285C>A (p.Ala762Asp) | |
17 | g.41755749C>A | CA399490192 | JUP | c.2233G>T (p.Ala745Ser) c.2284G>T (p.Ala762Ser) | gnomAD v4 |
17 | g.41755749C>G | CA399490193 | JUP | c.2233G>C (p.Ala745Pro) c.2284G>C (p.Ala762Pro) | |
17 | g.41755749C>T | CA399490194 | JUP | c.2233G>A (p.Ala745Thr) c.2284G>A (p.Ala762Thr) | |
17 | g.41755750C>A | CA500019506 | JUP | c.2232G>T (p.Leu744=) c.2283G>T (p.Leu761=) | |
17 | g.41755750C= | CA2260169422 | JUP | c.2232G= (p.Leu744=) c.2283G= (p.Leu761=) | |
17 | g.41755750C>G | CA500019508 | JUP | c.2232G>C (p.Leu744=) c.2283G>C (p.Leu761=) | gnomAD v4 |
17 | g.41755750C>T | CA500019511 | JUP | c.2232G>A (p.Leu744=) c.2283G>A (p.Leu761=) | ClinVar dbSNP |
17 | g.41755751A>C | CA399490198 | JUP | c.2231T>G (p.Leu744Arg) c.2282T>G (p.Leu761Arg) | |
17 | g.41755751A>G | CA399490200 | JUP | c.2231T>C (p.Leu744Pro) c.2282T>C (p.Leu761Pro) | |
17 | g.41755751A>T | CA399490196 | JUP | c.2231T>A (p.Leu744Gln) c.2282T>A (p.Leu761Gln) | |
17 | g.41755752G>A | CA8564981 | JUP | c.2230C>T (p.Leu744=) c.2281C>T (p.Leu761=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41755752G>C | CA399490202 | JUP | c.2230C>G (p.Leu744Val) c.2281C>G (p.Leu761Val) | |
17 | g.41755752G= | CA2260169423 | JUP | c.2230C= (p.Leu744=) c.2281C= (p.Leu761=) | |
17 | g.41755752G>T | CA399490204 | JUP | c.2230C>A (p.Leu744Met) c.2281C>A (p.Leu761Met) | gnomAD v4 |
17 | g.41755753C>A | CA399490205 | JUP | c.2229G>T (p.Met743Ile) c.2280G>T (p.Met760Ile) | gnomAD v4 |
17 | g.41755753C>G | CA399490207 | JUP | c.2229G>C (p.Met743Ile) c.2280G>C (p.Met760Ile) | |
17 | g.41755753C>T | CA399490209 | JUP | c.2229G>A (p.Met743Ile) c.2280G>A (p.Met760Ile) | gnomAD v4 |
17 | g.41755754A>C | CA399490211 | JUP | c.2228T>G (p.Met743Arg) c.2279T>G (p.Met760Arg) | |
17 | g.41755754A>G | CA399490214 | JUP | c.2228T>C (p.Met743Thr) c.2279T>C (p.Met760Thr) | |
17 | g.41755754A>T | CA399490213 | JUP | c.2228T>A (p.Met743Lys) c.2279T>A (p.Met760Lys) | |
17 | g.41755755T>A | CA399490216 | JUP | c.2227A>T (p.Met743Leu) c.2278A>T (p.Met760Leu) | |
17 | g.41755755T>C | CA399490218 | JUP | c.2227A>G (p.Met743Val) c.2278A>G (p.Met760Val) | ClinVar dbSNP gnomAD v4 |
17 | g.41755755T>G | CA399490220 | JUP | c.2227A>C (p.Met743Leu) c.2278A>C (p.Met760Leu) | |
17 | g.41755755T= | CA2260169424 | JUP | c.2227A= (p.Met743=) c.2278A= (p.Met760=) | |
17 | g.41755756G>A | CA500019535 | JUP | c.2226C>T (p.His742=) c.2277C>T (p.His759=) | |
17 | g.41755756G>C | CA399490222 | JUP | c.2226C>G (p.His742Gln) c.2277C>G (p.His759Gln) | |
17 | g.41755756G>T | CA399490223 | JUP | c.2226C>A (p.His742Gln) c.2277C>A (p.His759Gln) | |
17 | g.41755757T>A | CA399490227 | JUP | c.2225A>T (p.His742Leu) c.2276A>T (p.His759Leu) | |
17 | g.41755757T>C | CA399490228 | JUP | c.2225A>G (p.His742Arg) c.2276A>G (p.His759Arg) | gnomAD v4 COSMIC |
17 | g.41755757T>G | CA399490225 | JUP | c.2225A>C (p.His742Pro) c.2276A>C (p.His759Pro) | |
17 | g.41755758G>A | CA399490232 | JUP | c.2224C>T (p.His742Tyr) c.2275C>T (p.His759Tyr) | |
17 | g.41755758G>C | CA399490230 | JUP | c.2224C>G (p.His742Asp) c.2275C>G (p.His759Asp) | |
17 | g.41755758G>T | CA399490233 | JUP | c.2224C>A (p.His742Asn) c.2275C>A (p.His759Asn) | |
17 | g.41755759G>A | CA500019557 | JUP | c.2223C>T (p.Asp741=) c.2274C>T (p.Asp758=) | |
17 | g.41755759G>C | CA399490235 | JUP | c.2223C>G (p.Asp741Glu) c.2274C>G (p.Asp758Glu) | |
17 | g.41755759G>T | CA399490236 | JUP | c.2223C>A (p.Asp741Glu) c.2274C>A (p.Asp758Glu) | |
17 | g.41755760T>A | CA399490238 | JUP | c.2222A>T (p.Asp741Val) c.2273A>T (p.Asp758Val) | |
17 | g.41755760T>C | CA399490240 | JUP | c.2222A>G (p.Asp741Gly) c.2273A>G (p.Asp758Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.41755760T>G | CA399490242 | JUP | c.2222A>C (p.Asp741Ala) c.2273A>C (p.Asp758Ala) | |
17 | g.41755760T= | CA2260169425 | JUP | c.2222A= (p.Asp741=) c.2273A= (p.Asp758=) | |
17 | g.41755761C>A | CA399490243 | JUP | c.2221G>T (p.Asp741Tyr) c.2272G>T (p.Asp758Tyr) | |
17 | g.41755761C>G | CA399490245 | JUP | c.2221G>C (p.Asp741His) c.2272G>C (p.Asp758His) | |
17 | g.41755761C>T | CA399490246 | JUP | c.2221G>A (p.Asp741Asn) c.2272G>A (p.Asp758Asn) | gnomAD v4 |
17 | g.41755762T>A | CA500019567 | JUP | c.2220A>T (p.Ala740=) c.2271A>T (p.Ala757=) | |
17 | g.41755762T>C | CA290694697 | JUP | c.2220A>G (p.Ala740=) c.2271A>G (p.Ala757=) | ClinVar dbSNP gnomAD v4 |
17 | g.41755762T>G | CA500019570 | JUP | c.2220A>C (p.Ala740=) c.2271A>C (p.Ala757=) |