UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41755712G>A | CA8564974 | JUP | c.*32C>T (n.*32C>T) c.*14+18C>T (n.*14+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755712G= | CA2260169403 | JUP | c.*32C= (n.*32C=) c.*14+18C= (n.*14+18C=) | |
| 17 | g.41755712G>T | CA2637857926 | JUP | c.*32C>A (n.*32C>A) c.*14+18C>A (n.*14+18C>A) | gnomAD v4 |
| 17 | g.41755713C>A | CA2637857927 | JUP | c.*31G>T (n.*31G>T) c.*14+17G>T (n.*14+17G>T) | gnomAD v4 |
| 17 | g.41755713C>T | CA2637857928 | JUP | c.*31G>A (n.*31G>A) c.*14+17G>A (n.*14+17G>A) | gnomAD v4 |
| 17 | g.41755713_41755714delinsCA | CA2260169404 | JUP | c.*30_*31delinsTG (n.*30_*31delinsTG) c.*14+16_*14+17delinsTG (n.*14+16_*14+17delinsTG) | |
| 17 | g.41755716del | CA626025191 | JUP | c.*30del (n.*30del) c.*14+16del (n.*14+16del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755715A>G | CA2637857930 | JUP | c.*29T>C (n.*29T>C) c.*14+15T>C (n.*14+15T>C) | gnomAD v4 |
| 17 | g.41755716A= | CA2260169405 | JUP | c.*28T= (n.*28T=) c.*14+14T= (n.*14+14T=) | |
| 17 | g.41755716A>G | CA2260169406 | JUP | c.*28T>C (n.*28T>C) c.*14+14T>C (n.*14+14T>C) | dbSNP gnomAD v4 |
| 17 | g.41755718_41755719del | CA2809501017 | JUP | c.*27_*28del (n.*27_*28del) c.*14+13_*14+14del (n.*14+13_*14+14del) | |
| 17 | g.41755717G>T | CA2637857931 | JUP | c.*27C>A (n.*27C>A) c.*14+13C>A (n.*14+13C>A) | gnomAD v4 |
| 17 | g.41755718A= | CA2260169407 | JUP | c.*26T= (n.*26T=) c.*14+12T= (n.*14+12T=) | |
| 17 | g.41755718A>G | CA2637857932 | JUP | c.*26T>C (n.*26T>C) c.*14+12T>C (n.*14+12T>C) | gnomAD v4 |
| 17 | g.41755719G>C | CA2637857936 | JUP | c.*25C>G (n.*25C>G) c.*14+11C>G (n.*14+11C>G) | gnomAD v4 |
| 17 | g.41755719G>T | CA2637857935 | JUP | c.*25C>A (n.*25C>A) c.*14+11C>A (n.*14+11C>A) | gnomAD v4 |
| 17 | g.41755723dup | CA919841954 | JUP | c.*25dup (n.*25dup) c.*14+11dup (n.*14+11dup) | dbSNP |
| 17 | g.41755723del | CA2637857938 | JUP | c.*25del (n.*25del) c.*14+11del (n.*14+11del) | gnomAD v4 |
| 17 | g.41755726_41755736del | CA2637857939 | JUP | c.*14_*24del (n.*14_*24del) c.*14_*14+10del | gnomAD v4 |
| 17 | g.41755721G>A | CA8564975 | JUP | c.*23C>T (n.*23C>T) c.*14+9C>T (n.*14+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755721G= | CA2260169408 | JUP | c.*23C= (n.*23C=) c.*14+9C= (n.*14+9C=) | |
| 17 | g.41755722G>T | CA2637857942 | JUP | c.*22C>A (n.*22C>A) c.*14+8C>A (n.*14+8C>A) | gnomAD v4 |
| 17 | g.41755723G>A | CA2581308403 | JUP | c.*21C>T (n.*21C>T) c.*14+7C>T (n.*14+7C>T) | |
| 17 | g.41755723G>C | CA2581308404 | JUP | c.*21C>G (n.*21C>G) c.*14+7C>G (n.*14+7C>G) | |
| 17 | g.41755723G= | CA2260169409 | JUP | c.*21C= (n.*21C=) c.*14+7C= (n.*14+7C=) | |
| 17 | g.41755723G>T | CA291696 | JUP | c.*21C>A (n.*21C>A) c.*14+7C>A (n.*14+7C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755724C>A | CA2637857946 | JUP | c.*20G>T (n.*20G>T) c.*14+6G>T (n.*14+6G>T) | gnomAD v4 |
| 17 | g.41755724C>G | CA2637857947 | JUP | c.*20G>C (n.*20G>C) c.*14+6G>C (n.*14+6G>C) | gnomAD v4 |
| 17 | g.41755724C>T | CA2576268734 | JUP | c.*20G>A (n.*20G>A) c.*14+6G>A (n.*14+6G>A) | gnomAD v4 |
| 17 | g.41755725C>A | CA2637857950 | JUP | c.*19G>T (n.*19G>T) c.*14+5G>T (n.*14+5G>T) | gnomAD v4 |
| 17 | g.41755725C= | CA2260169410 | JUP | c.*19G= (n.*19G=) c.*14+5G= (n.*14+5G=) | |
| 17 | g.41755725C>G | CA2637857952 | JUP | c.*19G>C (n.*19G>C) c.*14+5G>C (n.*14+5G>C) | gnomAD v4 |
| 17 | g.41755725C>T | CA8564976 | JUP | c.*19G>A (n.*19G>A) c.*14+5G>A (n.*14+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41755726G>A | CA8564978 | JUP | c.*18C>T (n.*18C>T) c.*14+4C>T (n.*14+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755726G>C | CA772059888 | JUP | c.*18C>G (n.*18C>G) c.*14+4C>G (n.*14+4C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755726G= | CA2260169411 | JUP | c.*18C= (n.*18C=) c.*14+4C= (n.*14+4C=) | |
| 17 | g.41755726G>T | CA8564977 | JUP | c.*18C>A (n.*18C>A) c.*14+4C>A (n.*14+4C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755726_41755727del | CA2637857956 | JUP | c.*17_*18del (n.*17_*18del) c.*14+3_*14+4del (n.*14+3_*14+4del) | gnomAD v4 |
| 17 | g.41755727T>C | CA2637857959 | JUP | c.*17A>G (n.*17A>G) c.*14+3A>G (n.*14+3A>G) | gnomAD v4 |
| 17 | g.41755728_41755729insGG | CA2637857960 | JUP | c.*15_*16insCC (n.*15_*16insCC) c.*14+1_*14+2insCC (n.*14+1_*14+2insCC) | gnomAD v4 |
| 17 | g.41755729C>A | CA626025192 | JUP | c.*15G>T (n.*15G>T) c.*14+1G>T (n.*14+1G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755729C= | CA2260169412 | JUP | c.*15G= (n.*15G=) c.*14+1G= (n.*14+1G=) | |
| 17 | g.41755729C>T | CA2637857961 | JUP | c.*15G>A (n.*15G>A) c.*14+1G>A (n.*14+1G>A) | gnomAD v4 |
| 17 | g.41755730T>G | CA16607623 | JUP | c.*14A>C (n.*14A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755730T= | CA2260169413 | JUP | c.*14A= (n.*14A=) | |
| 17 | g.41755731G>A | CA2576268735 | JUP | c.*13C>T (n.*13C>T) | |
| 17 | g.41755731G>C | CA2637857967 | JUP | c.*13C>G (n.*13C>G) | gnomAD v4 |
| 17 | g.41755731G>T | CA2637857968 | JUP | c.*13C>A (n.*13C>A) | gnomAD v4 |
| 17 | g.41755734dup | CA2637857965 | JUP | c.*13dup (n.*13dup) | gnomAD v4 |
| 17 | g.41755734del | CA2637857966 | JUP | c.*13del (n.*13del) | gnomAD v4 |
| 17 | g.41755732G>A | CA8564979 | JUP | c.*12C>T (n.*12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41755732G= | CA2260169414 | JUP | c.*12C= (n.*12C=) | |
| 17 | g.41755733G>A | CA8564980 | JUP | c.*11C>T (n.*11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41755733G= | CA2260169415 | JUP | c.*11C= (n.*11C=) | |
| 17 | g.41755733_41755734insT | CA2637857970 | JUP | c.*10_*11insA (n.*10_*11insA) | gnomAD v4 |
| 17 | g.41755734G>A | CA2637857972 | JUP | c.*10C>T (n.*10C>T) | gnomAD v4 |
| 17 | g.41755734G>T | CA2637857973 | JUP | c.*10C>A (n.*10C>A) | gnomAD v4 |
| 17 | g.41755735_41755738del | CA2637857971 | JUP | c.*7_*10del (n.*7_*10del) | gnomAD v4 |
| 17 | g.41755735C>A | CA626025193 | JUP | c.*9G>T (n.*9G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755735C= | CA2260169416 | JUP | c.*9G= (n.*9G=) | |
| 17 | g.41755735C>T | CA2637857976 | JUP | c.*9G>A (n.*9G>A) | gnomAD v4 |
| 17 | g.41755736C= | CA2260169417 | JUP | c.*8G= (n.*8G=) | |
| 17 | g.41755736C>T | CA626025194 | JUP | c.*8G>A (n.*8G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755736_41755737insG | CA2637857979 | JUP | c.*7_*8insC (n.*7_*8insC) | gnomAD v4 |
| 17 | g.41755737A>T | CA2637857978 | JUP | c.*7T>A (n.*7T>A) | gnomAD v4 |
| 17 | g.41755737_41755738insT | CA2637857980 | JUP | c.*6_*7insA (n.*6_*7insA) | gnomAD v4 |
| 17 | g.41755738G>A | CA626025195 | JUP | c.*6C>T (n.*6C>T) | dbSNP gnomAD v2 |
| 17 | g.41755738G>C | CA983779618 | JUP | c.*6C>G (n.*6C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755738G= | CA2260169418 | JUP | c.*6C= (n.*6C=) | |
| 17 | g.41755738G>T | CA2637857981 | JUP | c.*6C>A (n.*6C>A) | gnomAD v4 |
| 17 | g.41755739G>A | CA2637857982 | JUP | c.*5C>T (n.*5C>T) | gnomAD v4 |
| 17 | g.41755739G>T | CA2637857984 | JUP | c.*5C>A (n.*5C>A) | gnomAD v4 |
| 17 | g.41755740C>A | CA2637857986 | JUP | c.*4G>T (n.*4G>T) | gnomAD v4 |
| 17 | g.41755740C>T | CA2637857987 | JUP | c.*4G>A (n.*4G>A) | gnomAD v4 |
| 17 | g.41755740_41755741insTCA | CA2637857989 | JUP | c.*3_*4insTGA (n.*3_*4insTGA) | gnomAD v4 |
| 17 | g.41755740_41755741insTGGGTGCCGTGGCTCA | CA2637857990 | JUP | c.*3_*4insTGAGCCACGGCACCCA (n.*3_*4insTGAGCCACGGCACCCA) | gnomAD v4 |
| 17 | g.41755741C>A | CA2593969236 | JUP | c.*3G>T (n.*3G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755741C= | CA2260169419 | JUP | c.*3G= (n.*3G=) | |
| 17 | g.41755741C>T | CA291695 | JUP | c.*3G>A (n.*3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755742G>A | CA176373 | JUP | c.*2C>T (n.*2C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755742G= | CA2260169420 | JUP | c.*2C= (n.*2C=) | |
| 17 | g.41755743C>T | CA2637857992 | JUP | c.*1G>A (n.*1G>A) | gnomAD v4 |
| 17 | g.41755744C>A | CA399490179 | JUP | c.2238G>T (p.Ter746Tyr) c.2289G>T (p.Ter763Tyr) | |
| 17 | g.41755744C>G | CA399490177 | JUP | c.2238G>C (p.Ter746Tyr) c.2289G>C (p.Ter763Tyr) | |
| 17 | g.41755744C>T | CA500019484 | JUP | c.2238G>A (p.Ter746=) c.2289G>A (p.Ter763=) | ClinVar |
| 17 | g.41755745T>A | CA399490181 | JUP | c.2237A>T (p.Ter746Leu) c.2288A>T (p.Ter763Leu) | |
| 17 | g.41755745T>C | CA399490183 | JUP | c.2237A>G (p.Ter746Trp) c.2288A>G (p.Ter763Trp) | |
| 17 | g.41755745T>G | CA399490184 | JUP | c.2237A>C (p.Ter746Ser) c.2288A>C (p.Ter763Ser) | |
| 17 | g.41755746A>C | CA399490186 | JUP | c.2236T>G (p.Ter746Glu) c.2287T>G (p.Ter763Glu) | |
| 17 | g.41755746A>G | CA399490187 | JUP | c.2236T>C (p.Ter746Gln) c.2287T>C (p.Ter763Gln) | |
| 17 | g.41755746A>T | CA399490188 | JUP | c.2236T>A (p.Ter746Lys) c.2287T>A (p.Ter763Lys) | COSMIC |
| 17 | g.41755747G>A | CA500019491 | JUP | c.2235C>T (p.Ala745=) c.2286C>T (p.Ala762=) | |
| 17 | g.41755747G>C | CA500019494 | JUP | c.2235C>G (p.Ala745=) c.2286C>G (p.Ala762=) | |
| 17 | g.41755747G>T | CA500019496 | JUP | c.2235C>A (p.Ala745=) c.2286C>A (p.Ala762=) | gnomAD v4 |
| 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=) | |
| 17 | g.41755762T= | CA2260169426 | JUP | c.2220A= (p.Ala740=) c.2271A= (p.Ala757=) | |
| 17 | g.41755763G>A | CA399490252 | JUP | c.2219C>T (p.Ala740Val) c.2270C>T (p.Ala757Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755763G>C | CA399490254 | JUP | c.2219C>G (p.Ala740Gly) c.2270C>G (p.Ala757Gly) | |
| 17 | g.41755763G= | CA2260169427 | JUP | c.2219C= (p.Ala740=) c.2270C= (p.Ala757=) | |
| 17 | g.41755763G>T | CA399490256 | JUP | c.2219C>A (p.Ala740Glu) c.2270C>A (p.Ala757Glu) | |
| 17 | g.41755764C>A | CA399490263 | JUP | c.2218G>T (p.Ala740Ser) c.2269G>T (p.Ala757Ser) | |
| 17 | g.41755764C>G | CA399490259 | JUP | c.2218G>C (p.Ala740Pro) c.2269G>C (p.Ala757Pro) | |
| 17 | g.41755764C>T | CA399490260 | JUP | c.2218G>A (p.Ala740Thr) c.2269G>A (p.Ala757Thr) | gnomAD v4 |
| 17 | g.41755765A>C | CA500019581 | JUP | c.2217T>G (p.Thr739=) c.2268T>G (p.Thr756=) | |
| 17 | g.41755765A>G | CA500019586 | JUP | c.2217T>C (p.Thr739=) c.2268T>C (p.Thr756=) | |
| 17 | g.41755765A>T | CA500019583 | JUP | c.2217T>A (p.Thr739=) c.2268T>A (p.Thr756=) | |
| 17 | g.41755766G>A | CA399490266 | JUP | c.2216C>T (p.Thr739Ile) c.2267C>T (p.Thr756Ile) | |
| 17 | g.41755766G>C | CA399490268 | JUP | c.2216C>G (p.Thr739Ser) c.2267C>G (p.Thr756Ser) | |
| 17 | g.41755766G>T | CA399490274 | JUP | c.2216C>A (p.Thr739Asn) c.2267C>A (p.Thr756Asn) | |
| 17 | g.41755767T>A | CA399490277 | JUP | c.2215A>T (p.Thr739Ser) c.2266A>T (p.Thr756Ser) | |
| 17 | g.41755767T>C | CA8564982 | JUP | c.2215A>G (p.Thr739Ala) c.2266A>G (p.Thr756Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755767T>G | CA399490282 | JUP | c.2215A>C (p.Thr739Pro) c.2266A>C (p.Thr756Pro) | |
| 17 | g.41755767T= | CA2260169428 | JUP | c.2215A= (p.Thr739=) c.2266A= (p.Thr756=) | |
| 17 | g.41755768G>A | CA8564983 | JUP | c.2214C>T (p.Pro738=) c.2265C>T (p.Pro755=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755768G>C | CA500019590 | JUP | c.2214C>G (p.Pro738=) c.2265C>G (p.Pro755=) | |
| 17 | g.41755768G= | CA2260169429 | JUP | c.2214C= (p.Pro738=) c.2265C= (p.Pro755=) | |
| 17 | g.41755768G>T | CA8564984 | JUP | c.2214C>A (p.Pro738=) c.2265C>A (p.Pro755=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755769G>A | CA399490290 | JUP | c.2213C>T (p.Pro738Leu) c.2264C>T (p.Pro755Leu) | |
| 17 | g.41755769G>C | CA399490292 | JUP | c.2213C>G (p.Pro738Arg) c.2264C>G (p.Pro755Arg) | |
| 17 | g.41755769G>T | CA399490294 | JUP | c.2213C>A (p.Pro738His) c.2264C>A (p.Pro755His) | |
| 17 | g.41755770G>A | CA399490298 | JUP | c.2212C>T (p.Pro738Ser) c.2263C>T (p.Pro755Ser) | ClinVar |
| 17 | g.41755770G>C | CA399490299 | JUP | c.2212C>G (p.Pro738Ala) c.2263C>G (p.Pro755Ala) | |
| 17 | g.41755770G>T | CA399490296 | JUP | c.2212C>A (p.Pro738Thr) c.2263C>A (p.Pro755Thr) | |
| 17 | g.41755771G>A | CA500019601 | JUP | c.2211C>T (p.Tyr737=) c.2262C>T (p.Tyr754=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755771G>C | CA399490301 | JUP | c.2211C>G (p.Tyr737Ter) c.2262C>G (p.Tyr754Ter) | |
| 17 | g.41755771G>T | CA399490302 | JUP | c.2211C>A (p.Tyr737Ter) c.2262C>A (p.Tyr754Ter) | gnomAD v4 |
| 17 | g.41755772T>A | CA399490303 | JUP | c.2210A>T (p.Tyr737Phe) c.2261A>T (p.Tyr754Phe) | |
| 17 | g.41755772T>C | CA399490305 | JUP | c.2210A>G (p.Tyr737Cys) c.2261A>G (p.Tyr754Cys) | |
| 17 | g.41755772T>G | CA399490307 | JUP | c.2210A>C (p.Tyr737Ser) c.2261A>C (p.Tyr754Ser) | |
| 17 | g.41755773A>C | CA399490308 | JUP | c.2209T>G (p.Tyr737Asp) c.2260T>G (p.Tyr754Asp) | |
| 17 | g.41755773A>G | CA399490309 | JUP | c.2209T>C (p.Tyr737His) c.2260T>C (p.Tyr754His) | |
| 17 | g.41755773A>T | CA399490310 | JUP | c.2209T>A (p.Tyr737Asn) c.2260T>A (p.Tyr754Asn) | |
| 17 | g.41755774C>A | CA8564986 | JUP | c.2208G>T (p.Pro736=) c.2259G>T (p.Pro753=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41755774C= | CA2260169430 | JUP | c.2208G= (p.Pro736=) c.2259G= (p.Pro753=) | |
| 17 | g.41755774C>G | CA500019619 | JUP | c.2208G>C (p.Pro736=) c.2259G>C (p.Pro753=) | dbSNP |
| 17 | g.41755774C>T | CA8564985 | JUP | c.2208G>A (p.Pro736=) c.2259G>A (p.Pro753=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755775G>A | CA137193 | JUP | c.2207C>T (p.Pro736Leu) c.2258C>T (p.Pro753Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755775G>C | CA399490315 | JUP | c.2207C>G (p.Pro736Arg) c.2258C>G (p.Pro753Arg) | |
| 17 | g.41755775G= | CA2260169431 | JUP | c.2207C= (p.Pro736=) c.2258C= (p.Pro753=) | |
| 17 | g.41755775G>T | CA399490316 | JUP | c.2207C>A (p.Pro736Gln) c.2258C>A (p.Pro753Gln) | |
| 17 | g.41755779del | CA2637857999 | JUP | c.2207del (p.Pro736ArgfsTer28) c.2207del (p.Pro736ArgfsTer?) c.2258del (p.Pro753ArgfsTer?) | gnomAD v4 |
| 17 | g.41755776G>A | CA399490321 | JUP | c.2206C>T (p.Pro736Ser) c.2257C>T (p.Pro753Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755776G>C | CA399490320 | JUP | c.2206C>G (p.Pro736Ala) c.2257C>G (p.Pro753Ala) | |
| 17 | g.41755776G= | CA2260169432 | JUP | c.2206C= (p.Pro736=) c.2257C= (p.Pro753=) | |
| 17 | g.41755776G>T | CA399490319 | JUP | c.2206C>A (p.Pro736Thr) c.2257C>A (p.Pro753Thr) | |
| 17 | g.41755777G>A | CA500019634 | JUP | c.2205C>T (p.Pro735=) c.2256C>T (p.Pro752=) | |
| 17 | g.41755777G>C | CA500019641 | JUP | c.2205C>G (p.Pro735=) c.2256C>G (p.Pro752=) | |
| 17 | g.41755777G>T | CA500019637 | JUP | c.2205C>A (p.Pro735=) c.2256C>A (p.Pro752=) | |
| 17 | g.41755778G>A | CA8564987 | JUP | c.2204C>T (p.Pro735Leu) c.2255C>T (p.Pro752Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41755778G>C | CA399490323 | JUP | c.2204C>G (p.Pro735Arg) c.2255C>G (p.Pro752Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755778G= | CA2260169433 | JUP | c.2204C= (p.Pro735=) c.2255C= (p.Pro752=) | |
| 17 | g.41755778G>T | CA399490324 | JUP | c.2204C>A (p.Pro735His) c.2255C>A (p.Pro752His) | gnomAD v4 |
| 17 | g.41755779G>A | CA399490325 | JUP | c.2203C>T (p.Pro735Ser) c.2254C>T (p.Pro752Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755779G>C | CA399490326 | JUP | c.2203C>G (p.Pro735Ala) c.2254C>G (p.Pro752Ala) | |
| 17 | g.41755779G= | CA2260169434 | JUP | c.2203C= (p.Pro735=) c.2254C= (p.Pro752=) | |
| 17 | g.41755779G>T | CA399490327 | JUP | c.2203C>A (p.Pro735Thr) c.2254C>A (p.Pro752Thr) | |
| 17 | g.41755780C>A | CA399490328 | JUP | c.2202G>T (p.Arg734Ser) c.2253G>T (p.Arg751Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755780C= | CA2260169435 | JUP | c.2202G= (p.Arg734=) c.2253G= (p.Arg751=) | |
| 17 | g.41755780C>G | CA399490329 | JUP | c.2202G>C (p.Arg734Ser) c.2253G>C (p.Arg751Ser) | |
| 17 | g.41755780C>T | CA500019654 | JUP | c.2202G>A (p.Arg734=) c.2253G>A (p.Arg751=) | COSMIC |
| 17 | g.41755781C>A | CA399490330 | JUP | c.2201G>T (p.Arg734Met) c.2252G>T (p.Arg751Met) | |
| 17 | g.41755781C= | CA2260169436 | JUP | c.2201G= (p.Arg734=) c.2252G= (p.Arg751=) | |
| 17 | g.41755781C>G | CA399490331 | JUP | c.2201G>C (p.Arg734Thr) c.2252G>C (p.Arg751Thr) | |
| 17 | g.41755781C>T | CA399490332 | JUP | c.2201G>A (p.Arg734Lys) c.2252G>A (p.Arg751Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755782T>A | CA399490334 | JUP | c.2200A>T (p.Arg734Trp) c.2251A>T (p.Arg751Trp) | |
| 17 | g.41755782T>C | CA399490336 | JUP | c.2200A>G (p.Arg734Gly) c.2251A>G (p.Arg751Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755782T>G | CA500019662 | JUP | c.2200A>C (p.Arg734=) c.2251A>C (p.Arg751=) | |
| 17 | g.41755782T= | CA2260169437 | JUP | c.2200A= (p.Arg734=) c.2251A= (p.Arg751=) | |
| 17 | g.41755783G>A | CA500019665 | JUP | c.2199C>T (p.Leu733=) c.2250C>T (p.Leu750=) | COSMIC |
| 17 | g.41755783G>C | CA500019668 | JUP | c.2199C>G (p.Leu733=) c.2250C>G (p.Leu750=) | |
| 17 | g.41755783G>T | CA500019670 | JUP | c.2199C>A (p.Leu733=) c.2250C>A (p.Leu750=) | |
| 17 | g.41755784A>C | CA399490344 | JUP | c.2198T>G (p.Leu733Arg) c.2249T>G (p.Leu750Arg) | |
| 17 | g.41755784A>G | CA399490342 | JUP | c.2198T>C (p.Leu733Pro) c.2249T>C (p.Leu750Pro) | |
| 17 | g.41755784A>T | CA399490341 | JUP | c.2198T>A (p.Leu733His) c.2249T>A (p.Leu750His) | |
| 17 | g.41755785G>A | CA399490345 | JUP | c.2197C>T (p.Leu733Phe) c.2248C>T (p.Leu750Phe) | ClinVar dbSNP |
| 17 | g.41755785G>C | CA399490348 | JUP | c.2197C>G (p.Leu733Val) c.2248C>G (p.Leu750Val) | |
| 17 | g.41755785G= | CA2260169438 | JUP | c.2197C= (p.Leu733=) c.2248C= (p.Leu750=) | |
| 17 | g.41755785G>T | CA399490346 | JUP | c.2197C>A (p.Leu733Ile) c.2248C>A (p.Leu750Ile) | |
| 17 | g.41755786G>A | CA500019683 | JUP | c.2196C>T (p.Gly732=) c.2247C>T (p.Gly749=) | |
| 17 | g.41755786G>C | CA500019686 | JUP | c.2196C>G (p.Gly732=) c.2247C>G (p.Gly749=) | |
| 17 | g.41755786G>T | CA500019688 | JUP | c.2196C>A (p.Gly732=) c.2247C>A (p.Gly749=) | |
| 17 | g.41755787C>A | CA399490349 | JUP | c.2195G>T (p.Gly732Val) c.2246G>T (p.Gly749Val) | |
| 17 | g.41755787C= | CA2260169439 | JUP | c.2195G= (p.Gly732=) c.2246G= (p.Gly749=) | |
| 17 | g.41755787C>G | CA399490351 | JUP | c.2195G>C (p.Gly732Ala) c.2246G>C (p.Gly749Ala) | dbSNP |
| 17 | g.41755787C>T | CA399490352 | JUP | c.2195G>A (p.Gly732Asp) c.2246G>A (p.Gly749Asp) | |
| 17 | g.41755788C>A | CA399490353 | JUP | c.2194G>T (p.Gly732Cys) c.2245G>T (p.Gly749Cys) | |
| 17 | g.41755788C= | CA2260169440 | JUP | c.2194G= (p.Gly732=) c.2245G= (p.Gly749=) | |
| 17 | g.41755788C>G | CA399490354 | JUP | c.2194G>C (p.Gly732Arg) c.2245G>C (p.Gly749Arg) | |
| 17 | g.41755788C>T | CA8564988 | JUP | c.2194G>A (p.Gly732Ser) c.2245G>A (p.Gly749Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755789G>A | CA8564989 | JUP | c.2193C>T (p.Asp731=) c.2244C>T (p.Asp748=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755789G>C | CA399490355 | JUP | c.2193C>G (p.Asp731Glu) c.2244C>G (p.Asp748Glu) | |
| 17 | g.41755789G= | CA2260169441 | JUP | c.2193C= (p.Asp731=) c.2244C= (p.Asp748=) | |
| 17 | g.41755789G>T | CA399490356 | JUP | c.2193C>A (p.Asp731Glu) c.2244C>A (p.Asp748Glu) | |
| 17 | g.41755790T>A | CA399490357 | JUP | c.2192A>T (p.Asp731Val) c.2243A>T (p.Asp748Val) | |
| 17 | g.41755790T>C | CA399490358 | JUP | c.2192A>G (p.Asp731Gly) c.2243A>G (p.Asp748Gly) | |
| 17 | g.41755790T>G | CA399490359 | JUP | c.2192A>C (p.Asp731Ala) c.2243A>C (p.Asp748Ala) | dbSNP |
| 17 | g.41755790T= | CA2260169442 | JUP | c.2192A= (p.Asp731=) c.2243A= (p.Asp748=) | |
| 17 | g.41755791C>A | CA399490362 | JUP | c.2191G>T (p.Asp731Tyr) c.2242G>T (p.Asp748Tyr) | |
| 17 | g.41755791C= | CA2260169443 | JUP | c.2191G= (p.Asp731=) c.2242G= (p.Asp748=) | |
| 17 | g.41755791C>G | CA399490360 | JUP | c.2191G>C (p.Asp731His) c.2242G>C (p.Asp748His) | |
| 17 | g.41755791C>T | CA8564990 | JUP | c.2191G>A (p.Asp731Asn) c.2242G>A (p.Asp748Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41755792G>A | CA500019714 | JUP | c.2190C>T (p.Ser730=) c.2241C>T (p.Ser747=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755792G>C | CA399490363 | JUP | c.2190C>G (p.Ser730Arg) c.2241C>G (p.Ser747Arg) | |
| 17 | g.41755792G= | CA2260169444 | JUP | c.2190C= (p.Ser730=) c.2241C= (p.Ser747=) | |
| 17 | g.41755792G>T | CA399490364 | JUP | c.2190C>A (p.Ser730Arg) c.2241C>A (p.Ser747Arg) | |
| 17 | g.41755793C>A | CA399490365 | JUP | c.2189G>T (p.Ser730Ile) c.2240G>T (p.Ser747Ile) | |
| 17 | g.41755793C= | CA2260169445 | JUP | c.2189G= (p.Ser730=) c.2240G= (p.Ser747=) | |
| 17 | g.41755793C>G | CA399490366 | JUP | c.2189G>C (p.Ser730Thr) c.2240G>C (p.Ser747Thr) | |
| 17 | g.41755793C>T | CA8564991 | JUP | c.2189G>A (p.Ser730Asn) c.2240G>A (p.Ser747Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755794T>A | CA399490368 | JUP | c.2188A>T (p.Ser730Cys) c.2239A>T (p.Ser747Cys) | |
| 17 | g.41755794T>C | CA290694718 | JUP | c.2188A>G (p.Ser730Gly) c.2239A>G (p.Ser747Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755794T>G | CA399490373 | JUP | c.2188A>C (p.Ser730Arg) c.2239A>C (p.Ser747Arg) | |
| 17 | g.41755794T= | CA2260169446 | JUP | c.2188A= (p.Ser730=) c.2239A= (p.Ser747=) | |
| 17 | g.41755795G>A | CA8564992 | JUP | c.2187C>T (p.Tyr729=) c.2238C>T (p.Tyr746=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755795G>C | CA399490376 | JUP | c.2187C>G (p.Tyr729Ter) c.2238C>G (p.Tyr746Ter) | |
| 17 | g.41755795G= | CA2260169447 | JUP | c.2187C= (p.Tyr729=) c.2238C= (p.Tyr746=) | |
| 17 | g.41755795G>T | CA399490377 | JUP | c.2187C>A (p.Tyr729Ter) c.2238C>A (p.Tyr746Ter) | |
| 17 | g.41755796T>A | CA399490381 | JUP | c.2186A>T (p.Tyr729Phe) c.2237A>T (p.Tyr746Phe) | gnomAD v4 |
| 17 | g.41755796T>C | CA399490380 | JUP | c.2186A>G (p.Tyr729Cys) c.2237A>G (p.Tyr746Cys) | |
| 17 | g.41755796T>G | CA399490379 | JUP | c.2186A>C (p.Tyr729Ser) c.2237A>C (p.Tyr746Ser) | |
| 17 | g.41755797A= | CA2260169448 | JUP | c.2185T= (p.Tyr729=) c.2236T= (p.Tyr746=) | |
| 17 | g.41755797A>C | CA399490382 | JUP | c.2185T>G (p.Tyr729Asp) c.2236T>G (p.Tyr746Asp) | |
| 17 | g.41755797A>G | CA399490383 | JUP | c.2185T>C (p.Tyr729His) c.2236T>C (p.Tyr746His) | dbSNP gnomAD v2 |
| 17 | g.41755797A>T | CA399490384 | JUP | c.2185T>A (p.Tyr729Asn) c.2236T>A (p.Tyr746Asn) | ClinVar dbSNP |
| 17 | g.41755798G>A | CA500019750 | JUP | c.2184C>T (p.Thr728=) c.2235C>T (p.Thr745=) | COSMIC |
| 17 | g.41755798G>C | CA500019753 | JUP | c.2184C>G (p.Thr728=) c.2235C>G (p.Thr745=) | |
| 17 | g.41755798G>T | CA500019755 | JUP | c.2184C>A (p.Thr728=) c.2235C>A (p.Thr745=) | |
| 17 | g.41755799G>A | CA399490385 | JUP | c.2183C>T (p.Thr728Ile) c.2234C>T (p.Thr745Ile) | gnomAD v4 |
| 17 | g.41755799G>C | CA399490386 | JUP | c.2183C>G (p.Thr728Ser) c.2234C>G (p.Thr745Ser) | |
| 17 | g.41755799G>T | CA399490387 | JUP | c.2183C>A (p.Thr728Asn) c.2234C>A (p.Thr745Asn) | |
| 17 | g.41755800T>A | CA399490392 | JUP | c.2182A>T (p.Thr728Ser) c.2233A>T (p.Thr745Ser) | |
| 17 | g.41755800T>C | CA399490389 | JUP | c.2182A>G (p.Thr728Ala) c.2233A>G (p.Thr745Ala) | |
| 17 | g.41755800T>G | CA399490391 | JUP | c.2182A>C (p.Thr728Pro) c.2233A>C (p.Thr745Pro) | |
| 17 | g.41755801G>A | CA500019766 | JUP | c.2181C>T (p.Asp727=) c.2232C>T (p.Asp744=) | |
| 17 | g.41755801G>C | CA399490393 | JUP | c.2181C>G (p.Asp727Glu) c.2232C>G (p.Asp744Glu) | |
| 17 | g.41755801G>T | CA399490395 | JUP | c.2181C>A (p.Asp727Glu) c.2232C>A (p.Asp744Glu) | |
| 17 | g.41755802T>A | CA399490397 | JUP | c.2180A>T (p.Asp727Val) c.2231A>T (p.Asp744Val) | |
| 17 | g.41755802T>C | CA399490399 | JUP | c.2180A>G (p.Asp727Gly) c.2231A>G (p.Asp744Gly) | |
| 17 | g.41755802T>G | CA399490400 | JUP | c.2180A>C (p.Asp727Ala) c.2231A>C (p.Asp744Ala) | |
| 17 | g.41755803C>A | CA399490402 | JUP | c.2179G>T (p.Asp727Tyr) c.2230G>T (p.Asp744Tyr) | |
| 17 | g.41755803C= | CA2260169449 | JUP | c.2179G= (p.Asp727=) c.2230G= (p.Asp744=) | |
| 17 | g.41755803C>G | CA399490404 | JUP | c.2179G>C (p.Asp727His) c.2230G>C (p.Asp744His) | |
| 17 | g.41755803C>T | CA399490403 | JUP | c.2179G>A (p.Asp727Asn) c.2230G>A (p.Asp744Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755804G>A | CA137188 | JUP | c.2178C>T (p.Ile726=) c.2229C>T (p.Ile743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755804G>C | CA399490405 | JUP | c.2178C>G (p.Ile726Met) c.2229C>G (p.Ile743Met) | dbSNP |
| 17 | g.41755804G= | CA2260169450 | JUP | c.2178C= (p.Ile726=) c.2229C= (p.Ile743=) | |
| 17 | g.41755804G>T | CA500019781 | JUP | c.2178C>A (p.Ile726=) c.2229C>A (p.Ile743=) | |
| 17 | g.41755805A>C | CA399490406 | JUP | c.2177T>G (p.Ile726Ser) c.2228T>G (p.Ile743Ser) | |
| 17 | g.41755805A>G | CA399490407 | JUP | c.2177T>C (p.Ile726Thr) c.2228T>C (p.Ile743Thr) | gnomAD v4 |
| 17 | g.41755805A>T | CA399490409 | JUP | c.2177T>A (p.Ile726Asn) c.2228T>A (p.Ile743Asn) | |
| 17 | g.41755806T>A | CA399490411 | JUP | c.2176A>T (p.Ile726Phe) c.2227A>T (p.Ile743Phe) | |
| 17 | g.41755806T>C | CA399490412 | JUP | c.2176A>G (p.Ile726Val) c.2227A>G (p.Ile743Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755806T>G | CA399490414 | JUP | c.2176A>C (p.Ile726Leu) c.2227A>C (p.Ile743Leu) | |
| 17 | g.41755806T= | CA2260169451 | JUP | c.2176A= (p.Ile726=) c.2227A= (p.Ile743=) | |
| 17 | g.41755807G>A | CA500019793 | JUP | c.2175C>T (p.Pro725=) c.2226C>T (p.Pro742=) | |
| 17 | g.41755807G>C | CA500019795 | JUP | c.2175C>G (p.Pro725=) c.2226C>G (p.Pro742=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755807G= | CA2260169452 | JUP | c.2175C= (p.Pro725=) c.2226C= (p.Pro742=) | |
| 17 | g.41755807G>T | CA500019798 | JUP | c.2175C>A (p.Pro725=) c.2226C>A (p.Pro742=) | |
| 17 | g.41755810del | CA500019800 | JUP | c.2175del (p.Ile726SerfsTer?) c.2226del (p.Ile743SerfsTer?) | COSMIC |
| 17 | g.41755808G>A | CA399490416 | JUP | c.2174C>T (p.Pro725Leu) c.2225C>T (p.Pro742Leu) | gnomAD v4 |
| 17 | g.41755808G>C | CA399490418 | JUP | c.2174C>G (p.Pro725Arg) c.2225C>G (p.Pro742Arg) | |
| 17 | g.41755808G>T | CA399490419 | JUP | c.2174C>A (p.Pro725His) c.2225C>A (p.Pro742His) | |
| 17 | g.41755809G>A | CA399490423 | JUP | c.2173C>T (p.Pro725Ser) c.2224C>T (p.Pro742Ser) | gnomAD v4 |
| 17 | g.41755809G>C | CA399490422 | JUP | c.2173C>G (p.Pro725Ala) c.2224C>G (p.Pro742Ala) | |
| 17 | g.41755809G>T | CA399490421 | JUP | c.2173C>A (p.Pro725Thr) c.2224C>A (p.Pro742Thr) | |
| 17 | g.41755809_41755815delinsGGTAGTC | CA2260169453 | JUP | c.2167_2173delinsGACTACC (p.Asp723=) c.2218_2224delinsGACTACC (p.Asp740=) | |
| 17 | g.41755810G>A | CA500019818 | JUP | c.2172C>T (p.Tyr724=) c.2223C>T (p.Tyr741=) | |
| 17 | g.41755810G>C | CA399490424 | JUP | c.2172C>G (p.Tyr724Ter) c.2223C>G (p.Tyr741Ter) | dbSNP |
| 17 | g.41755810G= | CA2260169454 | JUP | c.2172C= (p.Tyr724=) c.2223C= (p.Tyr741=) | |
| 17 | g.41755810G>T | CA399490427 | JUP | c.2172C>A (p.Tyr724Ter) c.2223C>A (p.Tyr741Ter) | |
| 17 | g.41755810_41755815del | CA8564993 | JUP | c.2167_2172del (p.Asp723_Tyr724del) c.2218_2223del (p.Asp740_Tyr741del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755811T>A | CA399490429 | JUP | c.2171A>T (p.Tyr724Phe) c.2222A>T (p.Tyr741Phe) | |
| 17 | g.41755811T>C | CA399490431 | JUP | c.2171A>G (p.Tyr724Cys) c.2222A>G (p.Tyr741Cys) | |
| 17 | g.41755811T>G | CA399490432 | JUP | c.2171A>C (p.Tyr724Ser) c.2222A>C (p.Tyr741Ser) | dbSNP |
| 17 | g.41755811T= | CA2260169455 | JUP | c.2171A= (p.Tyr724=) c.2222A= (p.Tyr741=) | |
| 17 | g.41755811_41755816del | CA399490430 | JUP | c.2166_2171del (p.Asp723_Tyr724del) c.2217_2222del (p.Asp740_Tyr741del) |