Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127823973_127830053del | CA1139661202 | ENG | c.-327-226_588+331del c.220-226_1134+331del | ClinVar |
9 | g.127823973_127830815del | CA1139661203 | ENG | c.-327-988_588+331del c.220-988_1134+331del | ClinVar |
9 | g.127824679_127826283del | CA1139661205 | ENG | c.-24+229_445+123del c.523+229_991+123del | ClinVar |
9 | g.127824681_127830056del | CA1139661206 | ENG | c.-327-225_445+123del c.220-225_991+123del | ClinVar |
9 | g.127825247_127825252del | CA915947174 | ENG | c.253_258del (p.His85_Asn86del) c.799_804del (p.His267_Asn268del) | ClinVar dbSNP |
9 | g.127825250_127825258del | CA2573143975 | ENG | c.244_252del (p.Asp82_Asn84del) c.790_798del (p.Asp264_Asn266del) | ClinVar dbSNP |
9 | g.127825251T>A | CA374983119 | ENG | c.250A>T (p.Asn84Tyr) c.796A>T (p.Asn266Tyr) | |
9 | g.127825251T>C | CA374983121 | ENG | c.250A>G (p.Asn84Asp) c.796A>G (p.Asn266Asp) | |
9 | g.127825251T>G | CA374983123 | ENG | c.250A>C (p.Asn84His) c.796A>C (p.Asn266His) | |
9 | g.127825252G>A | CA467475086 | ENG | c.249C>T (p.Ala83=) c.795C>T (p.Ala265=) | |
9 | g.127825252G>C | CA467475087 | ENG | c.249C>G (p.Ala83=) c.795C>G (p.Ala265=) | |
9 | g.127825252G>T | CA467475088 | ENG | c.249C>A (p.Ala83=) c.795C>A (p.Ala265=) | |
9 | g.127825253G>A | CA374983130 | ENG | c.248C>T (p.Ala83Val) c.794C>T (p.Ala265Val) | gnomAD v4 |
9 | g.127825253G>C | CA374983127 | ENG | c.248C>G (p.Ala83Gly) c.794C>G (p.Ala265Gly) | |
9 | g.127825253G>T | CA374983126 | ENG | c.248C>A (p.Ala83Asp) c.794C>A (p.Ala265Asp) | ClinVar dbSNP |
9 | g.127825254C>A | CA374983134 | ENG | c.247G>T (p.Ala83Ser) c.793G>T (p.Ala265Ser) | |
9 | g.127825254C= | CA1879974317 | ENG | c.247G= (p.Ala83=) c.793G= (p.Ala265=) | |
9 | g.127825254C>G | CA374983135 | ENG | c.247G>C (p.Ala83Pro) c.793G>C (p.Ala265Pro) | |
9 | g.127825254C>T | CA5252981 | ENG | c.247G>A (p.Ala83Thr) c.793G>A (p.Ala265Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825255G>A | CA5252982 | ENG | c.246C>T (p.Asp82=) c.792C>T (p.Asp264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825255G>C | CA374983139 | ENG | c.246C>G (p.Asp82Glu) c.792C>G (p.Asp264Glu) | |
9 | g.127825255G= | CA1879974322 | ENG | c.246C= (p.Asp82=) c.792C= (p.Asp264=) | |
9 | g.127825255G>T | CA374983141 | ENG | c.246C>A (p.Asp82Glu) c.792C>A (p.Asp264Glu) | COSMIC COSMIC |
9 | g.127825256T>A | CA374983143 | ENG | c.245A>T (p.Asp82Val) c.791A>T (p.Asp264Val) | |
9 | g.127825256T>C | CA374983145 | ENG | c.245A>G (p.Asp82Gly) c.791A>G (p.Asp264Gly) | |
9 | g.127825256T>G | CA374983147 | ENG | c.245A>C (p.Asp82Ala) c.791A>C (p.Asp264Ala) | |
9 | g.127825257C>A | CA374983151 | ENG | c.244G>T (p.Asp82Tyr) c.790G>T (p.Asp264Tyr) | |
9 | g.127825257C= | CA1879974325 | ENG | c.244G= (p.Asp82=) c.790G= (p.Asp264=) | |
9 | g.127825257C>G | CA374983152 | ENG | c.244G>C (p.Asp82His) c.790G>C (p.Asp264His) | |
9 | g.127825257C>T | CA374983156 | ENG | c.244G>A (p.Asp82Asn) c.790G>A (p.Asp264Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.127825257_127825260delinsCGAT | CA1879974329 | ENG | c.241_244delinsATCG (p.Ile81=) c.787_790delinsATCG (p.Ile263=) | |
9 | g.127825258G>A | CA467475089 | ENG | c.243C>T (p.Ile81=) c.789C>T (p.Ile263=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825258G>C | CA374983158 | ENG | c.243C>G (p.Ile81Met) c.789C>G (p.Ile263Met) | |
9 | g.127825258G= | CA1879974340 | ENG | c.243C= (p.Ile81=) c.789C= (p.Ile263=) | |
9 | g.127825258G>T | CA467475090 | ENG | c.243C>A (p.Ile81=) c.789C>A (p.Ile263=) | |
9 | g.127825260_127825262del | CA916081555 | ENG | c.241_243del (p.Ile81del) c.787_789del (p.Ile263del) | ClinVar dbSNP gnomAD v4 |
9 | g.127825259_127825263del | CA2695211289 | ENG | c.239_243del (p.Leu80ArgfsTer?) c.785_789del (p.Leu262ArgfsTer?) | |
9 | g.127825260_127825269dup | CA915947175 | ENG | c.234_243dup (p.Asp82LeufsTer?) c.780_789dup (p.Asp264LeufsTer?) | ClinVar dbSNP |
9 | g.127825259A= | CA1879974347 | ENG | c.242T= (p.Ile81=) c.788T= (p.Ile263=) | |
9 | g.127825259A>C | CA374983166 | ENG | c.242T>G (p.Ile81Ser) c.788T>G (p.Ile263Ser) | ClinVar dbSNP |
9 | g.127825259A>G | CA374983162 | ENG | c.242T>C (p.Ile81Thr) c.788T>C (p.Ile263Thr) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825259A>T | CA374983163 | ENG | c.242T>A (p.Ile81Asn) c.788T>A (p.Ile263Asn) | ClinVar dbSNP |
9 | g.127825260T>A | CA374983168 | ENG | c.241A>T (p.Ile81Phe) c.787A>T (p.Ile263Phe) | |
9 | g.127825260T>C | CA374983171 | ENG | c.241A>G (p.Ile81Val) c.787A>G (p.Ile263Val) | |
9 | g.127825260T>G | CA374983173 | ENG | c.241A>C (p.Ile81Leu) c.787A>C (p.Ile263Leu) | |
9 | g.127825261G>A | CA5252983 | ENG | c.240C>T (p.Leu80=) c.786C>T (p.Leu262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825261G>C | CA467475091 | ENG | c.240C>G (p.Leu80=) c.786C>G (p.Leu262=) | |
9 | g.127825261G= | CA1879974357 | ENG | c.240C= (p.Leu80=) c.786C= (p.Leu262=) | |
9 | g.127825261G>T | CA467475092 | ENG | c.240C>A (p.Leu80=) c.786C>A (p.Leu262=) | |
9 | g.127825263_127825282del | CA2499219641 | ENG | c.221_240del (p.Pro74HisfsTer?) c.767_786del (p.Pro256HisfsTer?) | ClinVar dbSNP |
9 | g.127825262A>C | CA374983179 | ENG | c.239T>G (p.Leu80Arg) c.785T>G (p.Leu262Arg) | |
9 | g.127825262A>G | CA374983181 | ENG | c.239T>C (p.Leu80Pro) c.785T>C (p.Leu262Pro) | |
9 | g.127825262A>T | CA374983184 | ENG | c.239T>A (p.Leu80His) c.785T>A (p.Leu262His) | |
9 | g.127825263G>A | CA374983189 | ENG | c.238C>T (p.Leu80Phe) c.784C>T (p.Leu262Phe) | |
9 | g.127825263G>C | CA374983190 | ENG | c.238C>G (p.Leu80Val) c.784C>G (p.Leu262Val) | dbSNP gnomAD v4 |
9 | g.127825263G= | CA1879974366 | ENG | c.238C= (p.Leu80=) c.784C= (p.Leu262=) | |
9 | g.127825263G>T | CA374983191 | ENG | c.238C>A (p.Leu80Ile) c.784C>A (p.Leu262Ile) | |
9 | g.127825264C>A | CA374983193 | ENG | c.237G>T (p.Trp79Cys) c.783G>T (p.Trp261Cys) | |
9 | g.127825264C>G | CA374983195 | ENG | c.237G>C (p.Trp79Cys) c.783G>C (p.Trp261Cys) | |
9 | g.127825264C>T | CA374983197 | ENG | c.237G>A (p.Trp79Ter) c.783G>A (p.Trp261Ter) | |
9 | g.127825265C>A | CA16612706 | ENG | c.236G>T (p.Trp79Leu) c.782G>T (p.Trp261Leu) | ClinVar dbSNP |
9 | g.127825265C= | CA1879974377 | ENG | c.236G= (p.Trp79=) c.782G= (p.Trp261=) | |
9 | g.127825265C>G | CA374983203 | ENG | c.236G>C (p.Trp79Ser) c.782G>C (p.Trp261Ser) | |
9 | g.127825265C>T | CA374983201 | ENG | c.236G>A (p.Trp79Ter) c.782G>A (p.Trp261Ter) | ClinVar dbSNP |
9 | g.127825265_127825266dup | CA2573053102 | ENG | c.235_236dup (p.Trp79CysfsTer?) c.781_782dup (p.Trp261CysfsTer?) | ClinVar dbSNP |
9 | g.127825265_127825294delinsCAGGACACGTAGGGGGGACCCTGCAGGATG | CA1879974372 | ENG | c.207_236delinsCATCCTGCAGGGTCCCCCCTACGTGTCCTG (p.Leu69=) c.753_782delinsCATCCTGCAGGGTCCCCCCTACGTGTCCTG (p.Leu251=) | |
9 | g.127825266A= | CA1879974393 | ENG | c.235T= (p.Trp79=) c.781T= (p.Trp261=) | |
9 | g.127825266A>C | CA374983206 | ENG | c.235T>G (p.Trp79Gly) c.781T>G (p.Trp261Gly) | ClinVar dbSNP |
9 | g.127825266A>G | CA374983210 | ENG | c.235T>C (p.Trp79Arg) c.781T>C (p.Trp261Arg) | |
9 | g.127825266A>T | CA374983208 | ENG | c.235T>A (p.Trp79Arg) c.781T>A (p.Trp261Arg) | |
9 | g.127825271_127825299del | CA915947176 | ENG | c.207_235del (p.Ile70AlafsTer?) c.753_781del (p.Ile252AlafsTer?) | ClinVar dbSNP |
9 | g.127825266_127825267insCGTAGGGG | CA2695211290 | ENG | c.234_235insCCCCTACG (p.Trp79ProfsTer?) c.780_781insCCCCTACG (p.Trp261ProfsTer?) | |
9 | g.127825267G>A | CA467475093 | ENG | c.234C>T (p.Ser78=) c.780C>T (p.Ser260=) | dbSNP gnomAD v4 |
9 | g.127825267G>C | CA467475094 | ENG | c.234C>G (p.Ser78=) c.780C>G (p.Ser260=) | |
9 | g.127825267G= | CA1879974401 | ENG | c.234C= (p.Ser78=) c.780C= (p.Ser260=) | |
9 | g.127825267G>T | CA467475095 | ENG | c.234C>A (p.Ser78=) c.780C>A (p.Ser260=) | |
9 | g.127825268G>A | CA374983212 | ENG | c.233C>T (p.Ser78Phe) c.779C>T (p.Ser260Phe) | gnomAD v4 |
9 | g.127825268G>C | CA374983215 | ENG | c.233C>G (p.Ser78Cys) c.779C>G (p.Ser260Cys) | |
9 | g.127825268G= | CA1879974405 | ENG | c.233C= (p.Ser78=) c.779C= (p.Ser260=) | |
9 | g.127825268G>T | CA374983213 | ENG | c.233C>A (p.Ser78Tyr) c.779C>A (p.Ser260Tyr) | |
9 | g.127825269A>C | CA374983218 | ENG | c.232T>G (p.Ser78Ala) c.778T>G (p.Ser260Ala) | |
9 | g.127825269A>G | CA374983220 | ENG | c.232T>C (p.Ser78Pro) c.778T>C (p.Ser260Pro) | |
9 | g.127825269A>T | CA374983223 | ENG | c.232T>A (p.Ser78Thr) c.778T>A (p.Ser260Thr) | gnomAD v4 |
9 | g.127825269dup | CA2573143976 | ENG | c.232dup (p.Ser78PhefsTer?) c.778dup (p.Ser260PhefsTer?) | ClinVar dbSNP |
9 | g.127825269_127825271delinsGACACGTAGGGG | CA2695211291 | ENG | c.230_232delinsCCCCTACGTGTC (p.Val77_Ser78delinsAlaProThrCysPro) c.776_778delinsCCCCTACGTGTC (p.Val259_Ser260delinsAlaProThrCysPro) | |
9 | g.127825271_127825272dup | CA1879974407 | ENG | c.231_232dup (p.Ser78CysfsTer?) c.777_778dup (p.Ser260CysfsTer?) | ClinVar dbSNP |
9 | g.127825270C>A | CA467475096 | ENG | c.231G>T (p.Val77=) c.777G>T (p.Val259=) | ClinVar dbSNP |
9 | g.127825270C>G | CA467475098 | ENG | c.231G>C (p.Val77=) c.777G>C (p.Val259=) | |
9 | g.127825270C>T | CA467475097 | ENG | c.231G>A (p.Val77=) c.777G>A (p.Val259=) | |
9 | g.127825270_127825271delinsCA | CA1879974410 | ENG | c.230_231delinsTG (p.Val77=) c.776_777delinsTG (p.Val259=) | |
9 | g.127825270_127825281delinsCACGTAGGGGGG | CA1879974411 | ENG | c.220_231delinsCCCCCCTACGTG (p.Pro74=) c.766_777delinsCCCCCCTACGTG (p.Pro256=) | |
9 | g.127825271del | CA915947177 | ENG | c.230del (p.Val77GlyfsTer?) c.776del (p.Val259GlyfsTer?) | ClinVar dbSNP |
9 | g.127825271A= | CA1879974431 | ENG | c.230T= (p.Val77=) c.776T= (p.Val259=) | |
9 | g.127825271A>C | CA374983226 | ENG | c.230T>G (p.Val77Gly) c.776T>G (p.Val259Gly) | ClinVar dbSNP |
9 | g.127825271A>G | CA200313424 | ENG | c.230T>C (p.Val77Ala) c.776T>C (p.Val259Ala) | dbSNP |
9 | g.127825271A>T | CA374983229 | ENG | c.230T>A (p.Val77Glu) c.776T>A (p.Val259Glu) | |
9 | g.127825271_127825274delinsGACCCTGC | CA2695211292 | ENG | c.227_230delinsGCAGGGTC (p.Tyr76CysfsTer?) c.773_776delinsGCAGGGTC (p.Tyr258CysfsTer?) | ClinVar |
9 | g.127825273_127825283del | CA1139661209 | ENG | c.220_230del (p.Pro74ValfsTer?) c.766_776del (p.Pro256ValfsTer?) | ClinVar dbSNP |
9 | g.127825272del | CA2695211293 | ENG | c.229del (p.Val77CysfsTer?) c.775del (p.Val259CysfsTer?) | |
9 | g.127825272C>A | CA374983236 | ENG | c.229G>T (p.Val77Leu) c.775G>T (p.Val259Leu) | |
9 | g.127825272C= | CA1879974442 | ENG | c.229G= (p.Val77=) c.775G= (p.Val259=) | |
9 | g.127825272C>G | CA374983238 | ENG | c.229G>C (p.Val77Leu) c.775G>C (p.Val259Leu) | |
9 | g.127825272C>T | CA5252984 | ENG | c.229G>A (p.Val77Met) c.775G>A (p.Val259Met) | ClinVar dbSNP ExAC gnomAD v2 |
9 | g.127825273del | CA2573334441 | ENG | c.228del (p.Tyr76Ter) c.774del (p.Tyr258Ter) | ClinVar |
9 | g.127825273G>A | CA5252985 | ENG | c.228C>T (p.Tyr76=) c.774C>T (p.Tyr258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825273G>C | CA374983244 | ENG | c.228C>G (p.Tyr76Ter) c.774C>G (p.Tyr258Ter) | ClinVar dbSNP |
9 | g.127825273G= | CA1879974455 | ENG | c.228C= (p.Tyr76=) c.774C= (p.Tyr258=) | |
9 | g.127825273G>T | CA374983246 | ENG | c.228C>A (p.Tyr76Ter) c.774C>A (p.Tyr258Ter) | ClinVar dbSNP |
9 | g.127825273_127825275delinsT | CA2695211294 | ENG | c.226_228delinsA (p.Tyr76SerfsTer?) c.772_774delinsA (p.Tyr258SerfsTer?) | |
9 | g.127825274T>A | CA374983255 | ENG | c.227A>T (p.Tyr76Phe) c.773A>T (p.Tyr258Phe) | |
9 | g.127825274T>C | CA374983250 | ENG | c.227A>G (p.Tyr76Cys) c.773A>G (p.Tyr258Cys) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825274T>G | CA374983253 | ENG | c.227A>C (p.Tyr76Ser) c.773A>C (p.Tyr258Ser) | |
9 | g.127825274T= | CA1879974468 | ENG | c.227A= (p.Tyr76=) c.773A= (p.Tyr258=) | |
9 | g.127825274_127825275delinsTA | CA1879974470 | ENG | c.226_227delinsTA (p.Tyr76=) c.772_773delinsTA (p.Tyr258=) | |
9 | g.127825275del | CA1139661210 | ENG | c.226del (p.Tyr76ThrfsTer?) c.772del (p.Tyr258ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
9 | g.127825275A= | CA1879974485 | ENG | c.226T= (p.Tyr76=) c.772T= (p.Tyr258=) | |
9 | g.127825275A>C | CA5252986 | ENG | c.226T>G (p.Tyr76Asp) c.772T>G (p.Tyr258Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825275A>G | CA374983259 | ENG | c.226T>C (p.Tyr76His) c.772T>C (p.Tyr258His) | |
9 | g.127825275A>T | CA374983261 | ENG | c.226T>A (p.Tyr76Asn) c.772T>A (p.Tyr258Asn) | |
9 | g.127825275_127825276delinsAG | CA1879974512 | ENG | c.225_226delinsCT (p.Pro75=) c.771_772delinsCT (p.Pro257=) | |
9 | g.127825276G>A | CA467475099 | ENG | c.225C>T (p.Pro75=) c.771C>T (p.Pro257=) | dbSNP gnomAD v4 |
9 | g.127825276G>C | CA467475100 | ENG | c.225C>G (p.Pro75=) c.771C>G (p.Pro257=) | |
9 | g.127825276G= | CA1879974523 | ENG | c.225C= (p.Pro75=) c.771C= (p.Pro257=) | |
9 | g.127825276G>T | CA467475101 | ENG | c.225C>A (p.Pro75=) c.771C>A (p.Pro257=) | |
9 | g.127825281dup | CA915947179 | ENG | c.225dup (p.Tyr76LeufsTer?) c.771dup (p.Tyr258LeufsTer?) | ClinVar dbSNP gnomAD v4 |
9 | g.127825281del | CA915947178 | ENG | c.225del (p.Tyr76ThrfsTer?) c.771del (p.Tyr258ThrfsTer?) | ClinVar dbSNP |
9 | g.127825280_127825281del | CA2573143977 | ENG | c.224_225del (p.Pro75LeufsTer?) c.770_771del (p.Pro257LeufsTer?) | ClinVar dbSNP |
9 | g.127825276_127825285del | CA2691809073 | ENG | c.216_225del (p.Gln72HisfsTer?) c.762_771del (p.Gln254HisfsTer?) | gnomAD v4 |
9 | g.127825277G>A | CA5252987 | ENG | c.224C>T (p.Pro75Leu) c.770C>T (p.Pro257Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825277G>C | CA200313445 | ENG | c.224C>G (p.Pro75Arg) c.770C>G (p.Pro257Arg) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825277G= | CA1879974532 | ENG | c.224C= (p.Pro75=) c.770C= (p.Pro257=) | |
9 | g.127825277G>T | CA374983268 | ENG | c.224C>A (p.Pro75His) c.770C>A (p.Pro257His) | dbSNP gnomAD v4 COSMIC COSMIC |
9 | g.127825278G>A | CA374983271 | ENG | c.223C>T (p.Pro75Ser) c.769C>T (p.Pro257Ser) | |
9 | g.127825278G>C | CA374983275 | ENG | c.223C>G (p.Pro75Ala) c.769C>G (p.Pro257Ala) | ClinVar dbSNP |
9 | g.127825278G= | CA1879974539 | ENG | c.223C= (p.Pro75=) c.769C= (p.Pro257=) | |
9 | g.127825278G>T | CA374983277 | ENG | c.223C>A (p.Pro75Thr) c.769C>A (p.Pro257Thr) | |
9 | g.127825278_127825295delinsGGGGACCCTGCAGGATGA | CA1879974543 | ENG | c.206_223delinsTCATCCTGCAGGGTCCCC (p.Leu69=) c.752_769delinsTCATCCTGCAGGGTCCCC (p.Leu251=) | |
9 | g.127825279G>A | CA5252988 | ENG | c.222C>T (p.Pro74=) c.768C>T (p.Pro256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.127825279G>C | CA467475102 | ENG | c.222C>G (p.Pro74=) c.768C>G (p.Pro256=) | |
9 | g.127825279G= | CA1879974550 | ENG | c.222C= (p.Pro74=) c.768C= (p.Pro256=) | |
9 | g.127825279G>T | CA467475103 | ENG | c.222C>A (p.Pro74=) c.768C>A (p.Pro256=) | |
9 | g.127825281_127825297del | CA1139661211 | ENG | c.206_222del (p.Leu69ProfsTer?) c.752_768del (p.Leu251ProfsTer?) | ClinVar dbSNP |
9 | g.127825280G>A | CA374983286 | ENG | c.221C>T (p.Pro74Leu) c.767C>T (p.Pro256Leu) | gnomAD v4 |
9 | g.127825280G>C | CA374983284 | ENG | c.221C>G (p.Pro74Arg) c.767C>G (p.Pro256Arg) | gnomAD v4 |
9 | g.127825280G>T | CA374983280 | ENG | c.221C>A (p.Pro74His) c.767C>A (p.Pro256His) | gnomAD v4 |
9 | g.127825280_127825281delinsT | CA2580079662 | ENG | c.220_221delinsA (p.Pro74ThrfsTer?) c.766_767delinsA (p.Pro256ThrfsTer?) | ClinVar |
9 | g.127825280_127825285delinsGGACCC | CA1879974555 | ENG | c.216_221delinsGGGTCC (p.Gln72=) c.762_767delinsGGGTCC (p.Gln254=) | |
9 | g.127825281_127825287dup | CA1139661212 | ENG | c.215_221dup (p.Pro75GlyfsTer?) c.761_767dup (p.Pro257GlyfsTer?) | ClinVar dbSNP |
9 | g.127825281G>A | CA5252990 | ENG | c.220C>T (p.Pro74Ser) c.766C>T (p.Pro256Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825281G>C | CA374983287 | ENG | c.220C>G (p.Pro74Ala) c.766C>G (p.Pro256Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825281G= | CA1879974566 | ENG | c.220C= (p.Pro74=) c.766C= (p.Pro256=) | |
9 | g.127825281G>T | CA5252989 | ENG | c.220C>A (p.Pro74Thr) c.766C>A (p.Pro256Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825281_127825282delinsGA | CA1879974573 | ENG | c.219_220delinsTC (p.Gly73=) c.765_766delinsTC (p.Gly255=) | |
9 | g.127825281_127825285del | CA1129279787 | ENG | c.216_220del (p.Gln72HisfsTer?) c.762_766del (p.Gln254HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825282del | CA645509432 | ENG | c.219del (p.Tyr76ThrfsTer?) c.765del (p.Tyr258ThrfsTer?) | ClinVar dbSNP |
9 | g.127825282A= | CA1879974582 | ENG | c.219T= (p.Gly73=) c.765T= (p.Gly255=) | |
9 | g.127825282A>C | CA467475104 | ENG | c.219T>G (p.Gly73=) c.765T>G (p.Gly255=) | |
9 | g.127825282A>G | CA5252991 | ENG | c.219T>C (p.Gly73=) c.765T>C (p.Gly255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825282A>T | CA467475105 | ENG | c.219T>A (p.Gly73=) c.765T>A (p.Gly255=) | |
9 | g.127825283C>A | CA374983293 | ENG | c.218G>T (p.Gly73Val) c.764G>T (p.Gly255Val) | ClinVar dbSNP |
9 | g.127825283C>G | CA374983296 | ENG | c.218G>C (p.Gly73Ala) c.764G>C (p.Gly255Ala) | |
9 | g.127825283C>T | CA374983298 | ENG | c.218G>A (p.Gly73Asp) c.764G>A (p.Gly255Asp) | COSMIC COSMIC |
9 | g.127825284C>A | CA374983301 | ENG | c.217G>T (p.Gly73Cys) c.763G>T (p.Gly255Cys) | ClinVar dbSNP |
9 | g.127825284C= | CA1879974586 | ENG | c.217G= (p.Gly73=) c.763G= (p.Gly255=) | |
9 | g.127825284C>G | CA374983303 | ENG | c.217G>C (p.Gly73Arg) c.763G>C (p.Gly255Arg) | |
9 | g.127825284C>T | CA374983305 | ENG | c.217G>A (p.Gly73Ser) c.763G>A (p.Gly255Ser) | |
9 | g.127825285C>A | CA374983308 | ENG | c.216G>T (p.Gln72His) c.762G>T (p.Gln254His) | |
9 | g.127825285C>G | CA374983310 | ENG | c.216G>C (p.Gln72His) c.762G>C (p.Gln254His) | |
9 | g.127825285C>T | CA467475106 | ENG | c.216G>A (p.Gln72=) c.762G>A (p.Gln254=) | |
9 | g.127825286del | CA2579986000 | ENG | c.215del (p.Gln72ArgfsTer?) c.761del (p.Gln254ArgfsTer?) | |
9 | g.127825286T>A | CA374983318 | ENG | c.215A>T (p.Gln72Leu) c.761A>T (p.Gln254Leu) | |
9 | g.127825286T>C | CA374983316 | ENG | c.215A>G (p.Gln72Arg) c.761A>G (p.Gln254Arg) | dbSNP gnomAD v4 |
9 | g.127825286T>G | CA374983313 | ENG | c.215A>C (p.Gln72Pro) c.761A>C (p.Gln254Pro) | |
9 | g.127825286T= | CA1879974592 | ENG | c.215A= (p.Gln72=) c.761A= (p.Gln254=) | |
9 | g.127825286_127825287insTTTTTCAA | CA1129279796 | ENG | c.214_215insTTGAAAAA (p.Gln72LeufsTer?) c.760_761insTTGAAAAA (p.Gln254LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825286_127825287insTTTTTTTTTCAA | CA2691809074 | ENG | c.214_215insTTGAAAAAAAAA (p.Gln72delinsLeuGluLysLysLys) c.760_761insTTGAAAAAAAAA (p.Gln254delinsLeuGluLysLysLys) | gnomAD v4 |
9 | g.127825286_127825287insTTTTTTTTTTCAA | CA2691809075 | ENG | c.214_215insTTGAAAAAAAAAA (p.Gln72LeufsTer?) c.760_761insTTGAAAAAAAAAA (p.Gln254LeufsTer?) | gnomAD v4 |
9 | g.127825287G>A | CA374983319 | ENG | c.214C>T (p.Gln72Ter) c.760C>T (p.Gln254Ter) | ClinVar dbSNP |
9 | g.127825287G>C | CA374983321 | ENG | c.214C>G (p.Gln72Glu) c.760C>G (p.Gln254Glu) | |
9 | g.127825287G= | CA1879974602 | ENG | c.214C= (p.Gln72=) c.760C= (p.Gln254=) | |
9 | g.127825287G>T | CA374983323 | ENG | c.214C>A (p.Gln72Lys) c.760C>A (p.Gln254Lys) | gnomAD v4 |
9 | g.127825288C>A | CA467475107 | ENG | c.213G>T (p.Leu71=) c.759G>T (p.Leu253=) | |
9 | g.127825288C>G | CA467475108 | ENG | c.213G>C (p.Leu71=) c.759G>C (p.Leu253=) | |
9 | g.127825288C>T | CA467475109 | ENG | c.213G>A (p.Leu71=) c.759G>A (p.Leu253=) | |
9 | g.127825289A>C | CA374983324 | ENG | c.212T>G (p.Leu71Arg) c.758T>G (p.Leu253Arg) | |
9 | g.127825289A>G | CA374983325 | ENG | c.212T>C (p.Leu71Pro) c.758T>C (p.Leu253Pro) | ClinVar dbSNP |
9 | g.127825289A>T | CA374983326 | ENG | c.212T>A (p.Leu71Gln) c.758T>A (p.Leu253Gln) | |
9 | g.127825289_127825293delinsAGGAT | CA1879974608 | ENG | c.208_212delinsATCCT (p.Ile70=) c.754_758delinsATCCT (p.Ile252=) | |
9 | g.127825290G>A | CA467475110 | ENG | c.211C>T (p.Leu71=) c.757C>T (p.Leu253=) | |
9 | g.127825290G>C | CA5252992 | ENG | c.211C>G (p.Leu71Val) c.757C>G (p.Leu253Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825290G= | CA1879974610 | ENG | c.211C= (p.Leu71=) c.757C= (p.Leu253=) | |
9 | g.127825290G>T | CA374983328 | ENG | c.211C>A (p.Leu71Met) c.757C>A (p.Leu253Met) | |
9 | g.127825291_127825294del | CA1129279798 | ENG | c.208_211del (p.Ile70CysfsTer?) c.754_757del (p.Ile252CysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825291G>A | CA467475112 | ENG | c.210C>T (p.Ile70=) c.756C>T (p.Ile252=) | |
9 | g.127825291G>C | CA374983330 | ENG | c.210C>G (p.Ile70Met) c.756C>G (p.Ile252Met) | |
9 | g.127825291G>T | CA467475111 | ENG | c.210C>A (p.Ile70=) c.756C>A (p.Ile252=) | |
9 | g.127825293_127825295del | CA2739265071 | ENG | c.208_210del (p.Ile70del) c.754_756del (p.Ile252del) | ClinVar |
9 | g.127825292A>C | CA374983333 | ENG | c.209T>G (p.Ile70Ser) c.755T>G (p.Ile252Ser) | |
9 | g.127825292A>G | CA374983335 | ENG | c.209T>C (p.Ile70Thr) c.755T>C (p.Ile252Thr) | ClinVar dbSNP |
9 | g.127825292A>T | CA374983337 | ENG | c.209T>A (p.Ile70Asn) c.755T>A (p.Ile252Asn) | |
9 | g.127825293T>A | CA5252993 | ENG | c.208A>T (p.Ile70Phe) c.754A>T (p.Ile252Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825293T>C | CA374983342 | ENG | c.208A>G (p.Ile70Val) c.754A>G (p.Ile252Val) | dbSNP gnomAD v4 |
9 | g.127825293T>G | CA374983340 | ENG | c.208A>C (p.Ile70Leu) c.754A>C (p.Ile252Leu) | |
9 | g.127825293T= | CA1879974620 | ENG | c.208A= (p.Ile70=) c.754A= (p.Ile252=) | |
9 | g.127825293_127825296del | CA2538918841 | ENG | c.205_208del (p.Leu69SerfsTer?) c.751_754del (p.Leu251SerfsTer?) | |
9 | g.127825294G>A | CA467475115 | ENG | c.207C>T (p.Leu69=) c.753C>T (p.Leu251=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825294G>C | CA467475114 | ENG | c.207C>G (p.Leu69=) c.753C>G (p.Leu251=) | |
9 | g.127825294G= | CA1879974626 | ENG | c.207C= (p.Leu69=) c.753C= (p.Leu251=) | |
9 | g.127825294G>T | CA467475113 | ENG | c.207C>A (p.Leu69=) c.753C>A (p.Leu251=) | |
9 | g.127825296_127825298del | CA2695211295 | ENG | c.205_207del (p.Leu69del) c.751_753del (p.Leu251del) | |
9 | g.127825295A= | CA1879974634 | ENG | c.206T= (p.Leu69=) c.752T= (p.Leu251=) | |
9 | g.127825295A>C | CA374983346 | ENG | c.206T>G (p.Leu69Arg) c.752T>G (p.Leu251Arg) | |
9 | g.127825295A>G | CA374983350 | ENG | c.206T>C (p.Leu69Pro) c.752T>C (p.Leu251Pro) | ClinVar dbSNP COSMIC |
9 | g.127825295A>T | CA374983348 | ENG | c.206T>A (p.Leu69His) c.752T>A (p.Leu251His) | ClinVar |
9 | g.127825296G>A | CA5252994 | ENG | c.205C>T (p.Leu69Phe) c.751C>T (p.Leu251Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825296G>C | CA374983353 | ENG | c.205C>G (p.Leu69Val) c.751C>G (p.Leu251Val) | |
9 | g.127825296G= | CA1879974641 | ENG | c.205C= (p.Leu69=) c.751C= (p.Leu251=) | |
9 | g.127825296G>T | CA374983354 | ENG | c.205C>A (p.Leu69Ile) c.751C>A (p.Leu251Ile) | |
9 | g.127825297G>A | CA467475116 | ENG | c.204C>T (p.Val68=) c.750C>T (p.Val250=) | |
9 | g.127825297G>C | CA467475118 | ENG | c.204C>G (p.Val68=) c.750C>G (p.Val250=) | |
9 | g.127825297G>T | CA467475117 | ENG | c.204C>A (p.Val68=) c.750C>A (p.Val250=) | |
9 | g.127825298A>C | CA374983355 | ENG | c.203T>G (p.Val68Gly) c.749T>G (p.Val250Gly) | |
9 | g.127825298A>G | CA374983356 | ENG | c.203T>C (p.Val68Ala) c.749T>C (p.Val250Ala) | |
9 | g.127825298A>T | CA374983357 | ENG | c.203T>A (p.Val68Asp) c.749T>A (p.Val250Asp) | |
9 | g.127825298_127825299delinsGG | CA2580612132 | ENG | c.202_203delinsCC (p.Val68Pro) c.748_749delinsCC (p.Val250Pro) | |
9 | g.127825299C>A | CA374983358 | ENG | c.202G>T (p.Val68Phe) c.748G>T (p.Val250Phe) | gnomAD v4 |
9 | g.127825299C= | CA1879974649 | ENG | c.202G= (p.Val68=) c.748G= (p.Val250=) | |
9 | g.127825299C>G | CA374983359 | ENG | c.202G>C (p.Val68Leu) c.748G>C (p.Val250Leu) | |
9 | g.127825299C>T | CA5252995 | ENG | c.202G>A (p.Val68Ile) c.748G>A (p.Val250Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825300G>A | CA5252996 | ENG | c.201C>T (p.Ala67=) c.747C>T (p.Ala249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825300G>C | CA467475119 | ENG | c.201C>G (p.Ala67=) c.747C>G (p.Ala249=) | ClinVar gnomAD v4 COSMIC COSMIC |
9 | g.127825300G= | CA1879974655 | ENG | c.201C= (p.Ala67=) c.747C= (p.Ala249=) | |
9 | g.127825300G>T | CA467475120 | ENG | c.201C>A (p.Ala67=) c.747C>A (p.Ala249=) | |
9 | g.127825301G>A | CA374983362 | ENG | c.200C>T (p.Ala67Val) c.746C>T (p.Ala249Val) | |
9 | g.127825301G>C | CA374983361 | ENG | c.200C>G (p.Ala67Gly) c.746C>G (p.Ala249Gly) | |
9 | g.127825301G>T | CA374983360 | ENG | c.200C>A (p.Ala67Asp) c.746C>A (p.Ala249Asp) | |
9 | g.127825302C>A | CA374983363 | ENG | c.199G>T (p.Ala67Ser) c.745G>T (p.Ala249Ser) | gnomAD v4 |
9 | g.127825302C>G | CA374983364 | ENG | c.199G>C (p.Ala67Pro) c.745G>C (p.Ala249Pro) | |
9 | g.127825302C>T | CA374983365 | ENG | c.199G>A (p.Ala67Thr) c.745G>A (p.Ala249Thr) | |
9 | g.127825303A>C | CA374983366 | ENG | c.198T>G (p.Asp66Glu) c.744T>G (p.Asp248Glu) | |
9 | g.127825303A>G | CA467475121 | ENG | c.198T>C (p.Asp66=) c.744T>C (p.Asp248=) | |
9 | g.127825303A>T | CA374983367 | ENG | c.198T>A (p.Asp66Glu) c.744T>A (p.Asp248Glu) | |
9 | g.127825303dup | CA2691809076 | ENG | c.198dup (p.Ala67CysfsTer?) c.744dup (p.Ala249CysfsTer?) | gnomAD v4 |
9 | g.127825303_127825304delinsAT | CA1879974665 | ENG | c.197_198delinsAT (p.Asp66=) c.743_744delinsAT (p.Asp248=) | |
9 | g.127825304del | CA915947180 | ENG | c.197del (p.Asp66ValfsTer?) c.743del (p.Asp248ValfsTer?) | ClinVar dbSNP |
9 | g.127825304T>A | CA374983368 | ENG | c.197A>T (p.Asp66Val) c.743A>T (p.Asp248Val) | gnomAD v4 |
9 | g.127825304T>C | CA374983369 | ENG | c.197A>G (p.Asp66Gly) c.743A>G (p.Asp248Gly) | |
9 | g.127825304T>G | CA374983370 | ENG | c.197A>C (p.Asp66Ala) c.743A>C (p.Asp248Ala) | |
9 | g.127825304T= | CA1879974677 | ENG | c.197A= (p.Asp66=) c.743A= (p.Asp248=) | |
9 | g.127825304_127825305insA | CA645549770 | ENG | c.196_197insT (p.Asp66ValfsTer?) c.742_743insT (p.Asp248ValfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.127825305C>A | CA374983371 | ENG | c.196G>T (p.Asp66Tyr) c.742G>T (p.Asp248Tyr) | |
9 | g.127825305C= | CA1879974690 | ENG | c.196G= (p.Asp66=) c.742G= (p.Asp248=) | |
9 | g.127825305C>G | CA374983372 | ENG | c.196G>C (p.Asp66His) c.742G>C (p.Asp248His) | ClinVar |
9 | g.127825305C>T | CA5252997 | ENG | c.196G>A (p.Asp66Asn) c.742G>A (p.Asp248Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825306G>A | CA200313483 | ENG | c.195C>T (p.Leu65=) c.741C>T (p.Leu247=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825306G>C | CA467475122 | ENG | c.195C>G (p.Leu65=) c.741C>G (p.Leu247=) | |
9 | g.127825306G= | CA1879974700 | ENG | c.195C= (p.Leu65=) c.741C= (p.Leu247=) | |
9 | g.127825306G>T | CA467475123 | ENG | c.195C>A (p.Leu65=) c.741C>A (p.Leu247=) | gnomAD v4 |
9 | g.127825307del | CA2580079669 | ENG | c.194del (p.Leu65ProfsTer?) c.740del (p.Leu247ProfsTer?) | ClinVar |
9 | g.127825307A>C | CA374983374 | ENG | c.194T>G (p.Leu65Arg) c.740T>G (p.Leu247Arg) | |
9 | g.127825307A>G | CA374983375 | ENG | c.194T>C (p.Leu65Pro) c.740T>C (p.Leu247Pro) | |
9 | g.127825307A>T | CA374983373 | ENG | c.194T>A (p.Leu65His) c.740T>A (p.Leu247His) | |
9 | g.127825308G>A | CA374983376 | ENG | c.193C>T (p.Leu65Phe) c.739C>T (p.Leu247Phe) | |
9 | g.127825308G>C | CA374983377 | ENG | c.193C>G (p.Leu65Val) c.739C>G (p.Leu247Val) | |
9 | g.127825308G>T | CA374983378 | ENG | c.193C>A (p.Leu65Ile) c.739C>A (p.Leu247Ile) | |
9 | g.127825309A= | CA1879974704 | ENG | c.192T= (p.Asp64=) c.738T= (p.Asp246=) | |
9 | g.127825309A>C | CA374983379 | ENG | c.192T>G (p.Asp64Glu) c.738T>G (p.Asp246Glu) | |
9 | g.127825309A>G | CA467475124 | ENG | c.192T>C (p.Asp64=) c.738T>C (p.Asp246=) | |
9 | g.127825309A>T | CA374983380 | ENG | c.192T>A (p.Asp64Glu) c.738T>A (p.Asp246Glu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825310T>A | CA374983383 | ENG | c.191A>T (p.Asp64Val) c.737A>T (p.Asp246Val) | dbSNP |
9 | g.127825310T>C | CA374983382 | ENG | c.191A>G (p.Asp64Gly) c.737A>G (p.Asp246Gly) | |
9 | g.127825310T>G | CA374983381 | ENG | c.191A>C (p.Asp64Ala) c.737A>C (p.Asp246Ala) | gnomAD v3 gnomAD v4 |
9 | g.127825310T= | CA1879974708 | ENG | c.191A= (p.Asp64=) c.737A= (p.Asp246=) | |
9 | g.127825310_127825311delinsTC | CA1879974707 | ENG | c.190_191delinsGA (p.Asp64=) c.736_737delinsGA (p.Asp246=) | |
9 | g.127825311C>A | CA374983384 | ENG | c.190G>T (p.Asp64Tyr) c.736G>T (p.Asp246Tyr) | gnomAD v4 |
9 | g.127825311C= | CA1879974722 | ENG | c.190G= (p.Asp64=) c.736G= (p.Asp246=) | |
9 | g.127825311C>G | CA374983385 | ENG | c.190G>C (p.Asp64His) c.736G>C (p.Asp246His) | |
9 | g.127825311C>T | CA200313484 | ENG | c.190G>A (p.Asp64Asn) c.736G>A (p.Asp246Asn) | dbSNP |
9 | g.127825314del | CA658656035 | ENG | c.190del (p.Asp64IlefsTer?) c.736del (p.Asp246IlefsTer?) | ClinVar dbSNP |
9 | g.127825312C>A | CA467475125 | ENG | c.189G>T (p.Gly63=) c.735G>T (p.Gly245=) | |
9 | g.127825312C= | CA1879974728 | ENG | c.189G= (p.Gly63=) c.735G= (p.Gly245=) | |
9 | g.127825312C>G | CA467475126 | ENG | c.189G>C (p.Gly63=) c.735G>C (p.Gly245=) | |
9 | g.127825312C>T | CA200313487 | ENG | c.189G>A (p.Gly63=) c.735G>A (p.Gly245=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825313C>A | CA374983386 | ENG | c.188G>T (p.Gly63Val) c.734G>T (p.Gly245Val) | |
9 | g.127825313C>G | CA374983387 | ENG | c.188G>C (p.Gly63Ala) c.734G>C (p.Gly245Ala) | |
9 | g.127825313C>T | CA374983388 | ENG | c.188G>A (p.Gly63Glu) c.734G>A (p.Gly245Glu) | gnomAD v4 |
9 | g.127825314C>A | CA374983389 | ENG | c.187G>T (p.Gly63Trp) c.733G>T (p.Gly245Trp) | |
9 | g.127825314C= | CA1879974737 | ENG | c.187G= (p.Gly63=) c.733G= (p.Gly245=) | |
9 | g.127825314C>G | CA374983390 | ENG | c.187G>C (p.Gly63Arg) c.733G>C (p.Gly245Arg) | |
9 | g.127825314C>T | CA5252998 | ENG | c.187G>A (p.Gly63Arg) c.733G>A (p.Gly245Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.127825314_127825317del | CA2568443199 | ENG | c.184_187del (p.Pro62GlyfsTer?) c.730_733del (p.Pro244GlyfsTer?) | |
9 | g.127825315G>A | CA5252999 | ENG | c.186C>T (p.Pro62=) c.732C>T (p.Pro244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825315G>C | CA5253000 | ENG | c.186C>G (p.Pro62=) c.732C>G (p.Pro244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825315G= | CA1879974748 | ENG | c.186C= (p.Pro62=) c.732C= (p.Pro244=) | |
9 | g.127825315G>T | CA467475127 | ENG | c.186C>A (p.Pro62=) c.732C>A (p.Pro244=) | |
9 | g.127825317dup | CA658656036 | ENG | c.186dup (p.Gly63ArgfsTer?) c.732dup (p.Gly245ArgfsTer?) | ClinVar dbSNP |
9 | g.127825317del | CA2839319613 | ENG | c.186del (p.Asp64IlefsTer?) c.732del (p.Asp246IlefsTer?) | |
9 | g.127825316G>A | CA374983391 | ENG | c.185C>T (p.Pro62Leu) c.731C>T (p.Pro244Leu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825316G>C | CA374983392 | ENG | c.185C>G (p.Pro62Arg) c.731C>G (p.Pro244Arg) | |
9 | g.127825316G= | CA1879974755 | ENG | c.185C= (p.Pro62=) c.731C= (p.Pro244=) | |
9 | g.127825316G>T | CA374983393 | ENG | c.185C>A (p.Pro62His) c.731C>A (p.Pro244His) | |
9 | g.127825317G>A | CA374983394 | ENG | c.184C>T (p.Pro62Ser) c.730C>T (p.Pro244Ser) | dbSNP |
9 | g.127825317G>C | CA374983395 | ENG | c.184C>G (p.Pro62Ala) c.730C>G (p.Pro244Ala) | gnomAD v4 |
9 | g.127825317G= | CA1879974756 | ENG | c.184C= (p.Pro62=) c.730C= (p.Pro244=) | |
9 | g.127825317G>T | CA374983396 | ENG | c.184C>A (p.Pro62Thr) c.730C>A (p.Pro244Thr) | gnomAD v4 |
9 | g.127825318T>A | CA467475130 | ENG | c.183A>T (p.Ala61=) c.729A>T (p.Ala243=) | |
9 | g.127825318T>C | CA467475129 | ENG | c.183A>G (p.Ala61=) c.729A>G (p.Ala243=) | |
9 | g.127825318T>G | CA467475128 | ENG | c.183A>C (p.Ala61=) c.729A>C (p.Ala243=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825318T= | CA1879974759 | ENG | c.183A= (p.Ala61=) c.729A= (p.Ala243=) | |
9 | g.127825318_127825319insCG | CA2739291266 | ENG | c.182_183insCG (p.Pro62AspfsTer?) c.728_729insCG (p.Pro244AspfsTer?) | |
9 | g.127825318_127825319insCAAA | CA2509547280 | ENG | c.182_183insTTTG (p.Pro62LeufsTer?) c.728_729insTTTG (p.Pro244LeufsTer?) | |
9 | g.127825319G>A | CA200313501 | ENG | c.182C>T (p.Ala61Val) c.728C>T (p.Ala243Val) | ClinVar dbSNP gnomAD v4 |
9 | g.127825319G>C | CA374983397 | ENG | c.182C>G (p.Ala61Gly) c.728C>G (p.Ala243Gly) | |
9 | g.127825319G= | CA1879974765 | ENG | c.182C= (p.Ala61=) c.728C= (p.Ala243=) | |
9 | g.127825319G>T | CA374983398 | ENG | c.182C>A (p.Ala61Glu) c.728C>A (p.Ala243Glu) | |
9 | g.127825320C>A | CA374983399 | ENG | c.181G>T (p.Ala61Ser) c.727G>T (p.Ala243Ser) | |
9 | g.127825320C= | CA1879974770 | ENG | c.181G= (p.Ala61=) c.727G= (p.Ala243=) | |
9 | g.127825320C>G | CA5253002 | ENG | c.181G>C (p.Ala61Pro) c.727G>C (p.Ala243Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825320C>T | CA5253001 | ENG | c.181G>A (p.Ala61Thr) c.727G>A (p.Ala243Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825321G>A | CA5253003 | ENG | c.180C>T (p.Cys60=) c.726C>T (p.Cys242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825321G>C | CA374983401 | ENG | c.180C>G (p.Cys60Trp) c.726C>G (p.Cys242Trp) | |
9 | g.127825321G= | CA1879974779 | ENG | c.180C= (p.Cys60=) c.726C= (p.Cys242=) | |
9 | g.127825321G>T | CA374983400 | ENG | c.180C>A (p.Cys60Ter) c.726C>A (p.Cys242Ter) | ClinVar dbSNP |
9 | g.127825321_127825326delinsGCAGCT | CA1879974778 | ENG | c.175_180delinsAGCTGC (p.Ser59=) c.721_726delinsAGCTGC (p.Ser241=) | |
9 | g.127825322C>A | CA374983402 | ENG | c.179G>T (p.Cys60Phe) c.725G>T (p.Cys242Phe) | gnomAD v4 |
9 | g.127825322C>G | CA374983404 | ENG | c.179G>C (p.Cys60Ser) c.725G>C (p.Cys242Ser) | |
9 | g.127825322C>T | CA374983403 | ENG | c.179G>A (p.Cys60Tyr) c.725G>A (p.Cys242Tyr) | |
9 | g.127825325_127825329del | CA16618749 | ENG | c.175_179del (p.Ser59ArgfsTer?) c.721_725del (p.Ser241ArgfsTer?) | ClinVar dbSNP |
9 | g.127825323A>C | CA374983405 | ENG | c.178T>G (p.Cys60Gly) c.724T>G (p.Cys242Gly) | |
9 | g.127825323A>G | CA374983406 | ENG | c.178T>C (p.Cys60Arg) c.724T>C (p.Cys242Arg) | |
9 | g.127825323A>T | CA374983407 | ENG | c.178T>A (p.Cys60Ser) c.724T>A (p.Cys242Ser) | |
9 | g.127825324G>A | CA467475131 | ENG | c.177C>T (p.Ser59=) c.723C>T (p.Ser241=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825324G>C | CA374983408 | ENG | c.177C>G (p.Ser59Arg) c.723C>G (p.Ser241Arg) | |
9 | g.127825324G= | CA1879974790 | ENG | c.177C= (p.Ser59=) c.723C= (p.Ser241=) | |
9 | g.127825324G>T | CA374983409 | ENG | c.177C>A (p.Ser59Arg) c.723C>A (p.Ser241Arg) | |
9 | g.127825325C>A | CA374983410 | ENG | c.176G>T (p.Ser59Ile) c.722G>T (p.Ser241Ile) | |
9 | g.127825325C= | CA1879974792 | ENG | c.176G= (p.Ser59=) c.722G= (p.Ser241=) | |
9 | g.127825325C>G | CA374983411 | ENG | c.176G>C (p.Ser59Thr) c.722G>C (p.Ser241Thr) | |
9 | g.127825325C>T | CA16612707 | ENG | c.176G>A (p.Ser59Asn) c.722G>A (p.Ser241Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825326T>A | CA374983412 | ENG | c.175A>T (p.Ser59Cys) c.721A>T (p.Ser241Cys) | |
9 | g.127825326T>C | CA374983413 | ENG | c.175A>G (p.Ser59Gly) c.721A>G (p.Ser241Gly) | |
9 | g.127825326T>G | CA374983414 | ENG | c.175A>C (p.Ser59Arg) c.721A>C (p.Ser241Arg) | |
9 | g.127825327C>A | CA467475132 | ENG | c.174G>T (p.Leu58=) c.720G>T (p.Leu240=) | |
9 | g.127825327C= | CA1879974805 | ENG | c.174G= (p.Leu58=) c.720G= (p.Leu240=) | |
9 | g.127825327C>G | CA467475133 | ENG | c.174G>C (p.Leu58=) c.720G>C (p.Leu240=) | ClinVar dbSNP gnomAD v4 |
9 | g.127825327C>T | CA467475134 | ENG | c.174G>A (p.Leu58=) c.720G>A (p.Leu240=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825328A>C | CA374983415 | ENG | c.173T>G (p.Leu58Arg) c.719T>G (p.Leu240Arg) | |
9 | g.127825328A>G | CA374983416 | ENG | c.173T>C (p.Leu58Pro) c.719T>C (p.Leu240Pro) | |
9 | g.127825328A>T | CA374983417 | ENG | c.173T>A (p.Leu58Gln) c.719T>A (p.Leu240Gln) | |
9 | g.127825329G>A | CA467475135 | ENG | c.172C>T (p.Leu58=) c.718C>T (p.Leu240=) | ClinVar |
9 | g.127825329G>C | CA5253004 | ENG | c.172C>G (p.Leu58Val) c.718C>G (p.Leu240Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825329G= | CA1879974810 | ENG | c.172C= (p.Leu58=) c.718C= (p.Leu240=) | |
9 | g.127825329G>T | CA374983418 | ENG | c.172C>A (p.Leu58Met) c.718C>A (p.Leu240Met) | gnomAD v3 gnomAD v4 |
9 | g.127825330T>A | CA374983419 | ENG | c.171A>T (p.Glu57Asp) c.717A>T (p.Glu239Asp) | |
9 | g.127825330T>C | CA467475136 | ENG | c.171A>G (p.Glu57=) c.717A>G (p.Glu239=) | |
9 | g.127825330T>G | CA374983420 | ENG | c.171A>C (p.Glu57Asp) c.717A>C (p.Glu239Asp) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825330T= | CA1879974814 | ENG | c.171A= (p.Glu57=) c.717A= (p.Glu239=) | |
9 | g.127825331T>A | CA374983421 | ENG | c.170A>T (p.Glu57Val) c.716A>T (p.Glu239Val) | ClinVar |
9 | g.127825331T>C | CA374983422 | ENG | c.170A>G (p.Glu57Gly) c.716A>G (p.Glu239Gly) | ClinVar |
9 | g.127825331T>G | CA374983423 | ENG | c.170A>C (p.Glu57Ala) c.716A>C (p.Glu239Ala) | |
9 | g.127825331T= | CA1879974817 | ENG | c.170A= (p.Glu57=) c.716A= (p.Glu239=) | |
9 | g.127825332C>A | CA16618750 | ENG | c.169G>T (p.Glu57Ter) c.715G>T (p.Glu239Ter) | ClinVar dbSNP |
9 | g.127825332C= | CA1879974828 | ENG | c.169G= (p.Glu57=) c.715G= (p.Glu239=) | |
9 | g.127825332C>G | CA374983424 | ENG | c.169G>C (p.Glu57Gln) c.715G>C (p.Glu239Gln) | |
9 | g.127825332C>T | CA374983425 | ENG | c.169G>A (p.Glu57Lys) c.715G>A (p.Glu239Lys) | |
9 | g.127825333dup | CA16612595 | ENG | c.169dup (p.Glu57GlyfsTer?) c.715dup (p.Glu239GlyfsTer?) | ClinVar dbSNP |
9 | g.127825333C>A | CA467475137 | ENG | c.168G>T (p.Val56=) c.714G>T (p.Val238=) | |
9 | g.127825333C>G | CA467475138 | ENG | c.168G>C (p.Val56=) c.714G>C (p.Val238=) | |
9 | g.127825333C>T | CA467475139 | ENG | c.168G>A (p.Val56=) c.714G>A (p.Val238=) | gnomAD v4 |
9 | g.127825337_127825342dup | CA5253005 | ENG | c.163_168dup (p.Val56_Glu57insLysVal) c.709_714dup (p.Val238_Glu239insLysVal) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825334A= | CA1879974840 | ENG | c.167T= (p.Val56=) c.713T= (p.Val238=) | |
9 | g.127825334A>C | CA374983426 | ENG | c.167T>G (p.Val56Gly) c.713T>G (p.Val238Gly) | |
9 | g.127825334A>G | CA374983427 | ENG | c.167T>C (p.Val56Ala) c.713T>C (p.Val238Ala) | |
9 | g.127825334A>T | CA16612408 | ENG | c.167T>A (p.Val56Glu) c.713T>A (p.Val238Glu) | ClinVar dbSNP |
9 | g.127825334_127825335delinsAC | CA1879974837 | ENG | c.166_167delinsGT (p.Val56=) c.712_713delinsGT (p.Val238=) | |
9 | g.127825335C>A | CA374983430 | ENG | c.166G>T (p.Val56Leu) c.712G>T (p.Val238Leu) | ClinVar |
9 | g.127825335C>G | CA374983429 | ENG | c.166G>C (p.Val56Leu) c.712G>C (p.Val238Leu) | |
9 | g.127825335C>T | CA374983428 | ENG | c.166G>A (p.Val56Met) c.712G>A (p.Val238Met) | gnomAD v4 |
9 | g.127825336del | CA10603150 | ENG | c.166del (p.Val56TrpfsTer3) c.712del (p.Val238TrpfsTer3) | ClinVar dbSNP |
9 | g.127825336C>A | CA374983432 | ENG | c.165G>T (p.Lys55Asn) c.711G>T (p.Lys237Asn) | |
9 | g.127825336C>G | CA374983431 | ENG | c.165G>C (p.Lys55Asn) c.711G>C (p.Lys237Asn) | |
9 | g.127825336C>T | CA467475140 | ENG | c.165G>A (p.Lys55=) c.711G>A (p.Lys237=) | |
9 | g.127825337T>A | CA374983433 | ENG | c.164A>T (p.Lys55Met) c.710A>T (p.Lys237Met) | |
9 | g.127825337T>C | CA374983434 | ENG | c.164A>G (p.Lys55Arg) c.710A>G (p.Lys237Arg) | gnomAD v4 |
9 | g.127825337T>G | CA374983435 | ENG | c.164A>C (p.Lys55Thr) c.710A>C (p.Lys237Thr) | |
9 | g.127825337_127825343delinsTTCACCG | CA1879974849 | ENG | c.158_164delinsCGGTGAA (p.Thr53=) c.704_710delinsCGGTGAA (p.Thr235=) | |
9 | g.127825338T>A | CA374983436 | ENG | c.163A>T (p.Lys55Ter) c.709A>T (p.Lys237Ter) | |
9 | g.127825338T>C | CA374983437 | ENG | c.163A>G (p.Lys55Glu) c.709A>G (p.Lys237Glu) | |
9 | g.127825338T>G | CA374983438 | ENG | c.163A>C (p.Lys55Gln) c.709A>C (p.Lys237Gln) | |
9 | g.127825338_127825341delinsTCAC | CA1879974857 | ENG | c.160_163delinsGTGA (p.Val54=) c.706_709delinsGTGA (p.Val236=) | |
9 | g.127825346_127825351dup | CA2691809077 | ENG | c.158_163dup (p.Val54_Lys55insThrVal) c.704_709dup (p.Val236_Lys237insThrVal) | gnomAD v4 |
9 | g.127825346_127825351del | CA915947181 | ENG | c.158_163del (p.Thr53_Val54del) c.704_709del (p.Thr235_Val236del) | ClinVar dbSNP |
9 | g.127825339C>A | CA467475142 | ENG | c.162G>T (p.Val54=) c.708G>T (p.Val236=) | |
9 | g.127825339C= | CA1879974868 | ENG | c.162G= (p.Val54=) c.708G= (p.Val236=) | |
9 | g.127825339C>G | CA467475141 | ENG | c.162G>C (p.Val54=) c.708G>C (p.Val236=) | |
9 | g.127825339C>T | CA5253006 | ENG | c.162G>A (p.Val54=) c.708G>A (p.Val236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825340_127825342del | CA16618751 | ENG | c.160_162del (p.Val54del) c.706_708del (p.Val236del) | ClinVar dbSNP |
9 | g.127825340A= | CA1879974879 | ENG | c.161T= (p.Val54=) c.707T= (p.Val236=) | |
9 | g.127825340A>C | CA374983439 | ENG | c.161T>G (p.Val54Gly) c.707T>G (p.Val236Gly) | dbSNP |
9 | g.127825340A>G | CA374983440 | ENG | c.161T>C (p.Val54Ala) c.707T>C (p.Val236Ala) | ClinVar |
9 | g.127825340A>T | CA374983441 | ENG | c.161T>A (p.Val54Glu) c.707T>A (p.Val236Glu) | ClinVar dbSNP |
9 | g.127825341C>A | CA374983442 | ENG | c.160G>T (p.Val54Leu) c.706G>T (p.Val236Leu) | gnomAD v4 |
9 | g.127825341C= | CA1879974884 | ENG | c.160G= (p.Val54=) c.706G= (p.Val236=) | |
9 | g.127825341C>G | CA374983443 | ENG | c.160G>C (p.Val54Leu) c.706G>C (p.Val236Leu) | |
9 | g.127825341C>T | CA5253007 | ENG | c.160G>A (p.Val54Met) c.706G>A (p.Val236Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825341_127825353dup | CA2695211296 | ENG | c.148_160dup (p.Val54AlafsTer?) c.694_706dup (p.Val236AlafsTer?) | |
9 | g.127825342C>A | CA467475143 | ENG | c.159G>T (p.Thr53=) c.705G>T (p.Thr235=) | gnomAD v4 |
9 | g.127825342C= | CA1879974886 | ENG | c.159G= (p.Thr53=) c.705G= (p.Thr235=) | |
9 | g.127825342C>G | CA467475144 | ENG | c.159G>C (p.Thr53=) c.705G>C (p.Thr235=) | ClinVar dbSNP |
9 | g.127825342C>T | CA5253008 | ENG | c.159G>A (p.Thr53=) c.705G>A (p.Thr235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825343_127825347dup | CA2580079672 | ENG | c.155_159dup (p.Val54Ter) c.701_705dup (p.Val236Ter) | ClinVar |
9 | g.127825343del | CA2695211297 | ENG | c.158del (p.Thr53ArgfsTer2) c.704del (p.Thr235ArgfsTer2) | |
9 | g.127825343G>A | CA374983444 | ENG | c.158C>T (p.Thr53Met) c.704C>T (p.Thr235Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825343G>C | CA374983445 | ENG | c.158C>G (p.Thr53Arg) c.704C>G (p.Thr235Arg) | |
9 | g.127825343G= | CA1879974890 | ENG | c.158C= (p.Thr53=) c.704C= (p.Thr235=) | |
9 | g.127825343G>T | CA374983446 | ENG | c.158C>A (p.Thr53Lys) c.704C>A (p.Thr235Lys) | ClinVar dbSNP |
9 | g.127825343dup | CA2695211298 | ENG | c.158dup (p.Val54GlyfsTer?) c.704dup (p.Val236GlyfsTer?) | |
9 | g.127825344T>A | CA374983447 | ENG | c.157A>T (p.Thr53Ser) c.703A>T (p.Thr235Ser) | |
9 | g.127825344T>C | CA374983448 | ENG | c.157A>G (p.Thr53Ala) c.703A>G (p.Thr235Ala) | gnomAD v4 |
9 | g.127825344T>G | CA374983449 | ENG | c.157A>C (p.Thr53Pro) c.703A>C (p.Thr235Pro) | |
9 | g.127825345C>A | CA467475145 | ENG | c.156G>T (p.Val52=) c.702G>T (p.Val234=) | |
9 | g.127825345C>G | CA467475147 | ENG | c.156G>C (p.Val52=) c.702G>C (p.Val234=) | |
9 | g.127825345C>T | CA467475146 | ENG | c.156G>A (p.Val52=) c.702G>A (p.Val234=) | |
9 | g.127825346A= | CA1879974896 | ENG | c.155T= (p.Val52=) c.701T= (p.Val234=) | |
9 | g.127825346A>C | CA374983450 | ENG | c.155T>G (p.Val52Gly) c.701T>G (p.Val234Gly) | dbSNP |
9 | g.127825346A>G | CA374983451 | ENG | c.155T>C (p.Val52Ala) c.701T>C (p.Val234Ala) | |
9 | g.127825346A>T | CA374983452 | ENG | c.155T>A (p.Val52Glu) c.701T>A (p.Val234Glu) | |
9 | g.127825347C>A | CA374983453 | ENG | c.154G>T (p.Val52Leu) c.700G>T (p.Val234Leu) | gnomAD v4 |
9 | g.127825347C>G | CA374983454 | ENG | c.154G>C (p.Val52Leu) c.700G>C (p.Val234Leu) | |
9 | g.127825347C>T | CA374983455 | ENG | c.154G>A (p.Val52Met) c.700G>A (p.Val234Met) | |
9 | g.127825348dup | CA2580079673 | ENG | c.154dup (p.Val52GlyfsTer?) c.700dup (p.Val234GlyfsTer?) | ClinVar |
9 | g.127825347_127825352dup | CA2691809078 | ENG | c.149_154dup (p.Thr51_Val52insGlyThr) c.695_700dup (p.Thr233_Val234insGlyThr) | gnomAD v4 |
9 | g.127825350_127825353dup | CA2695211299 | ENG | c.151_154dup (p.Val52AspfsTer?) c.697_700dup (p.Val234AspfsTer?) | |
9 | g.127825348C>A | CA467475148 | ENG | c.153G>T (p.Thr51=) c.699G>T (p.Thr233=) | |
9 | g.127825348C= | CA1879974903 | ENG | c.153G= (p.Thr51=) c.699G= (p.Thr233=) | |
9 | g.127825348C>G | CA467475149 | ENG | c.153G>C (p.Thr51=) c.699G>C (p.Thr233=) | |
9 | g.127825348C>T | CA5253009 | ENG | c.153G>A (p.Thr51=) c.699G>A (p.Thr233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825349_127825351del | CA2580079674 | ENG | c.151_153del (p.Thr51del) c.697_699del (p.Thr233del) | ClinVar |
9 | g.127825348_127825353del | CA2499219642 | ENG | c.148_153del (p.Arg50_Thr51del) c.694_699del (p.Arg232_Thr233del) | ClinVar dbSNP |
9 | g.127825349G>A | CA5253010 | ENG | c.152C>T (p.Thr51Met) c.698C>T (p.Thr233Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825349G>C | CA374983456 | ENG | c.152C>G (p.Thr51Arg) c.698C>G (p.Thr233Arg) | |
9 | g.127825349G= | CA1879974911 | ENG | c.152C= (p.Thr51=) c.698C= (p.Thr233=) | |
9 | g.127825349G>T | CA200313548 | ENG | c.152C>A (p.Thr51Lys) c.698C>A (p.Thr233Lys) | dbSNP gnomAD v4 |
9 | g.127825350T>A | CA374983457 | ENG | c.151A>T (p.Thr51Ser) c.697A>T (p.Thr233Ser) | |
9 | g.127825350T>C | CA374983459 | ENG | c.151A>G (p.Thr51Ala) c.697A>G (p.Thr233Ala) | gnomAD v4 |
9 | g.127825350T>G | CA374983458 | ENG | c.151A>C (p.Thr51Pro) c.697A>C (p.Thr233Pro) | |
9 | g.127825351C>A | CA467475150 | ENG | c.150G>T (p.Arg50=) c.696G>T (p.Arg232=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825351C= | CA1879974916 | ENG | c.150G= (p.Arg50=) c.696G= (p.Arg232=) | |
9 | g.127825351C>G | CA467475151 | ENG | c.150G>C (p.Arg50=) c.696G>C (p.Arg232=) | |
9 | g.127825351C>T | CA467475152 | ENG | c.150G>A (p.Arg50=) c.696G>A (p.Arg232=) |