Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.42173662_42173693delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC | CA1623929243 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*284_*315delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC (n.*284_*315delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC) c.*547_*578delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC (n.*547_*578delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC) c.49_80delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC (p.Glu17=) c.37_68delinsGAGTGCCACCAGTGGTACAAGAAGTTCATGAC (p.Glu13=) | |
6 | g.42173663_42173693del | CA1623929245 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*285_*315del (n.*285_*315del) c.*548_*578del (n.*548_*578del) c.50_80del (p.Glu17ValfsTer22) c.38_68del (p.Glu13ValfsTer22) | dbSNP gnomAD v4 |
6 | g.42173670_42173672del | CA2770804700 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*292_*294del (n.*292_*294del) c.*555_*557del (n.*555_*557del) c.57_59del (p.His19del) c.45_47del (p.His15del) | |
6 | g.42173671C>A | CA364105315 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*293C>A (n.*293C>A) c.*556C>A (n.*556C>A) c.58C>A (p.Gln20Lys) c.46C>A (p.Gln16Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173671C= | CA1623929253 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*293C= (n.*293C=) c.*556C= (n.*556C=) c.58C= (p.Gln20=) c.46C= (p.Gln16=) | |
6 | g.42173671C>G | CA364105323 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*293C>G (n.*293C>G) c.*556C>G (n.*556C>G) c.58C>G (p.Gln20Glu) c.46C>G (p.Gln16Glu) | |
6 | g.42173671C>T | CA364105318 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*293C>T (n.*293C>T) c.*556C>T (n.*556C>T) c.58C>T (p.Gln20Ter) c.46C>T (p.Gln16Ter) | gnomAD v4 |
6 | g.42173672A>C | CA364105325 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*294A>C (n.*294A>C) c.*557A>C (n.*557A>C) c.59A>C (p.Gln20Pro) c.47A>C (p.Gln16Pro) | |
6 | g.42173672A>G | CA364105327 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*294A>G (n.*294A>G) c.*557A>G (n.*557A>G) c.59A>G (p.Gln20Arg) c.47A>G (p.Gln16Arg) | |
6 | g.42173672A>T | CA364105330 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*294A>T (n.*294A>T) c.*557A>T (n.*557A>T) c.59A>T (p.Gln20Leu) c.47A>T (p.Gln16Leu) | |
6 | g.42173673G>A | CA138134999 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*295G>A (n.*295G>A) c.*558G>A (n.*558G>A) c.60G>A (p.Gln20=) c.48G>A (p.Gln16=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173673G>C | CA364105334 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*295G>C (n.*295G>C) c.*558G>C (n.*558G>C) c.60G>C (p.Gln20His) c.48G>C (p.Gln16His) | |
6 | g.42173673G= | CA1623929255 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*295G= (n.*295G=) c.*558G= (n.*558G=) c.60G= (p.Gln20=) c.48G= (p.Gln16=) | |
6 | g.42173673G>T | CA364105338 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*295G>T (n.*295G>T) c.*558G>T (n.*558G>T) c.60G>T (p.Gln20His) c.48G>T (p.Gln16His) | |
6 | g.42173674T>A | CA364105341 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*296T>A (n.*296T>A) c.*559T>A (n.*559T>A) c.61T>A (p.Trp21Arg) c.49T>A (p.Trp17Arg) | |
6 | g.42173674T>C | CA364105345 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*296T>C (n.*296T>C) c.*559T>C (n.*559T>C) c.61T>C (p.Trp21Arg) c.49T>C (p.Trp17Arg) | |
6 | g.42173674T>G | CA364105349 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*296T>G (n.*296T>G) c.*559T>G (n.*559T>G) c.61T>G (p.Trp21Gly) c.49T>G (p.Trp17Gly) | |
6 | g.42173674_42173675insC | CA2573140838 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*296_*297insC (n.*296_*297insC) c.*559_*560insC (n.*559_*560insC) c.61_62insC (p.Trp21SerfsTer8) c.49_50insC (p.Trp17SerfsTer8) | dbSNP |
6 | g.42173675G>A | CA364105352 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*297G>A (n.*297G>A) c.*560G>A (n.*560G>A) c.62G>A (p.Trp21Ter) c.50G>A (p.Trp17Ter) | gnomAD v4 |
6 | g.42173675G>C | CA364105355 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*297G>C (n.*297G>C) c.*560G>C (n.*560G>C) c.62G>C (p.Trp21Ser) c.50G>C (p.Trp17Ser) | |
6 | g.42173675G>T | CA364105359 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*297G>T (n.*297G>T) c.*560G>T (n.*560G>T) c.62G>T (p.Trp21Leu) c.50G>T (p.Trp17Leu) | |
6 | g.42173676G>A | CA364105373 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*298G>A (n.*298G>A) c.*561G>A (n.*561G>A) c.63G>A (p.Trp21Ter) c.51G>A (p.Trp17Ter) | |
6 | g.42173676G>C | CA364105367 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*298G>C (n.*298G>C) c.*561G>C (n.*561G>C) c.63G>C (p.Trp21Cys) c.51G>C (p.Trp17Cys) | |
6 | g.42173676G>T | CA364105363 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*298G>T (n.*298G>T) c.*561G>T (n.*561G>T) c.63G>T (p.Trp21Cys) c.51G>T (p.Trp17Cys) | |
6 | g.42173677T>A | CA364105376 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*299T>A (n.*299T>A) c.*562T>A (n.*562T>A) c.64T>A (p.Tyr22Asn) c.52T>A (p.Tyr18Asn) | |
6 | g.42173677T>C | CA364105378 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*299T>C (n.*299T>C) c.*562T>C (n.*562T>C) c.64T>C (p.Tyr22His) c.52T>C (p.Tyr18His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.42173677T>G | CA364105381 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*299T>G (n.*299T>G) c.*562T>G (n.*562T>G) c.64T>G (p.Tyr22Asp) c.52T>G (p.Tyr18Asp) | |
6 | g.42173677T= | CA1623929258 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*299T= (n.*299T=) c.*562T= (n.*562T=) c.64T= (p.Tyr22=) c.52T= (p.Tyr18=) | |
6 | g.42173678A>C | CA364105390 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*300A>C (n.*300A>C) c.*563A>C (n.*563A>C) c.65A>C (p.Tyr22Ser) c.53A>C (p.Tyr18Ser) | |
6 | g.42173678A>G | CA364105394 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*300A>G (n.*300A>G) c.*563A>G (n.*563A>G) c.65A>G (p.Tyr22Cys) c.53A>G (p.Tyr18Cys) | |
6 | g.42173678A>T | CA364105397 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*300A>T (n.*300A>T) c.*563A>T (n.*563A>T) c.65A>T (p.Tyr22Phe) c.53A>T (p.Tyr18Phe) | |
6 | g.42173679C>A | CA364105401 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*301C>A (n.*301C>A) c.*564C>A (n.*564C>A) c.66C>A (p.Tyr22Ter) c.54C>A (p.Tyr18Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.42173679C= | CA1623929260 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*301C= (n.*301C=) c.*564C= (n.*564C=) c.66C= (p.Tyr22=) c.54C= (p.Tyr18=) | |
6 | g.42173679C>G | CA364105403 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*301C>G (n.*301C>G) c.*564C>G (n.*564C>G) c.66C>G (p.Tyr22Ter) c.54C>G (p.Tyr18Ter) | |
6 | g.42173679C>T | CA450240507 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*301C>T (n.*301C>T) c.*564C>T (n.*564C>T) c.66C>T (p.Tyr22=) c.54C>T (p.Tyr18=) | gnomAD v4 |
6 | g.42173680A= | CA1623929262 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*302A= (n.*302A=) c.*565A= (n.*565A=) c.67A= (p.Lys23=) c.55A= (p.Lys19=) | |
6 | g.42173680A>C | CA364105412 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*302A>C (n.*302A>C) c.*565A>C (n.*565A>C) c.67A>C (p.Lys23Gln) c.55A>C (p.Lys19Gln) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.42173680A>G | CA364105416 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*302A>G (n.*302A>G) c.*565A>G (n.*565A>G) c.67A>G (p.Lys23Glu) c.55A>G (p.Lys19Glu) | |
6 | g.42173680A>T | CA364105420 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*302A>T (n.*302A>T) c.*565A>T (n.*565A>T) c.67A>T (p.Lys23Ter) c.55A>T (p.Lys19Ter) | |
6 | g.42173681del | CA2578617214 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*303del (n.*303del) c.*566del (n.*566del) c.68del (p.Lys23ArgfsTer4) c.56del (p.Lys19ArgfsTer4) | |
6 | g.42173681A>C | CA364105430 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*303A>C (n.*303A>C) c.*566A>C (n.*566A>C) c.68A>C (p.Lys23Thr) c.56A>C (p.Lys19Thr) | |
6 | g.42173681A>G | CA364105427 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*303A>G (n.*303A>G) c.*566A>G (n.*566A>G) c.68A>G (p.Lys23Arg) c.56A>G (p.Lys19Arg) | |
6 | g.42173681A>T | CA364105424 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*303A>T (n.*303A>T) c.*566A>T (n.*566A>T) c.68A>T (p.Lys23Met) c.56A>T (p.Lys19Met) | |
6 | g.42173682G>A | CA450240508 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*304G>A (n.*304G>A) c.*567G>A (n.*567G>A) c.69G>A (p.Lys23=) c.57G>A (p.Lys19=) | dbSNP |
6 | g.42173682G>C | CA364105433 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*304G>C (n.*304G>C) c.*567G>C (n.*567G>C) c.69G>C (p.Lys23Asn) c.57G>C (p.Lys19Asn) | |
6 | g.42173682G= | CA1623929265 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*304G= (n.*304G=) c.*567G= (n.*567G=) c.69G= (p.Lys23=) c.57G= (p.Lys19=) | |
6 | g.42173682G>T | CA364105434 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*304G>T (n.*304G>T) c.*567G>T (n.*567G>T) c.69G>T (p.Lys23Asn) c.57G>T (p.Lys19Asn) | |
6 | g.42173683A>C | CA364105436 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*305A>C (n.*305A>C) c.*568A>C (n.*568A>C) c.70A>C (p.Lys24Gln) c.58A>C (p.Lys20Gln) | |
6 | g.42173683A>G | CA364105441 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*305A>G (n.*305A>G) c.*568A>G (n.*568A>G) c.70A>G (p.Lys24Glu) c.58A>G (p.Lys20Glu) | |
6 | g.42173683A>T | CA364105453 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*305A>T (n.*305A>T) c.*568A>T (n.*568A>T) c.70A>T (p.Lys24Ter) c.58A>T (p.Lys20Ter) | |
6 | g.42173684A>C | CA364105457 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*306A>C (n.*306A>C) c.*569A>C (n.*569A>C) c.71A>C (p.Lys24Thr) c.59A>C (p.Lys20Thr) | |
6 | g.42173684A>G | CA364105459 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*306A>G (n.*306A>G) c.*569A>G (n.*569A>G) c.71A>G (p.Lys24Arg) c.59A>G (p.Lys20Arg) | |
6 | g.42173684A>T | CA364105462 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*306A>T (n.*306A>T) c.*569A>T (n.*569A>T) c.71A>T (p.Lys24Met) c.59A>T (p.Lys20Met) | |
6 | g.42173685G>A | CA450240512 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*307G>A (n.*307G>A) c.*570G>A (n.*570G>A) c.72G>A (p.Lys24=) c.60G>A (p.Lys20=) | |
6 | g.42173685G>C | CA364105464 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*307G>C (n.*307G>C) c.*570G>C (n.*570G>C) c.72G>C (p.Lys24Asn) c.60G>C (p.Lys20Asn) | |
6 | g.42173685G>T | CA364105467 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*307G>T (n.*307G>T) c.*570G>T (n.*570G>T) c.72G>T (p.Lys24Asn) c.60G>T (p.Lys20Asn) | |
6 | g.42173685_42173688delinsGTTC | CA1623929268 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*307_*310delinsGTTC (n.*307_*310delinsGTTC) c.*570_*573delinsGTTC (n.*570_*573delinsGTTC) c.72_75delinsGTTC (p.Lys24=) c.60_63delinsGTTC (p.Lys20=) | |
6 | g.42173686T>A | CA364105470 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*308T>A (n.*308T>A) c.*571T>A (n.*571T>A) c.73T>A (p.Phe25Ile) c.61T>A (p.Phe21Ile) | |
6 | g.42173686T>C | CA364105472 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*308T>C (n.*308T>C) c.*571T>C (n.*571T>C) c.73T>C (p.Phe25Leu) c.61T>C (p.Phe21Leu) | gnomAD v4 |
6 | g.42173686T>G | CA364105473 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*308T>G (n.*308T>G) c.*571T>G (n.*571T>G) c.73T>G (p.Phe25Val) c.61T>G (p.Phe21Val) | |
6 | g.42173686_42173688del | CA1139659508 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*308_*310del (n.*308_*310del) c.*571_*573del (n.*571_*573del) c.73_75del (p.Phe25del) c.61_63del (p.Phe21del) | ClinVar dbSNP |
6 | g.42173687T>A | CA364105475 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*309T>A (n.*309T>A) c.*572T>A (n.*572T>A) c.74T>A (p.Phe25Tyr) c.62T>A (p.Phe21Tyr) | |
6 | g.42173687T>C | CA364105479 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*309T>C (n.*309T>C) c.*572T>C (n.*572T>C) c.74T>C (p.Phe25Ser) c.62T>C (p.Phe21Ser) | dbSNP gnomAD v4 |
6 | g.42173687T>G | CA364105477 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*309T>G (n.*309T>G) c.*572T>G (n.*572T>G) c.74T>G (p.Phe25Cys) c.62T>G (p.Phe21Cys) | |
6 | g.42173687T= | CA1623929277 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*309T= (n.*309T=) c.*572T= (n.*572T=) c.74T= (p.Phe25=) c.62T= (p.Phe21=) | |
6 | g.42173688C>A | CA364105481 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*310C>A (n.*310C>A) c.*573C>A (n.*573C>A) c.75C>A (p.Phe25Leu) c.63C>A (p.Phe21Leu) | |
6 | g.42173688C>G | CA364105484 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*310C>G (n.*310C>G) c.*573C>G (n.*573C>G) c.75C>G (p.Phe25Leu) c.63C>G (p.Phe21Leu) | |
6 | g.42173688C>T | CA450240516 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*310C>T (n.*310C>T) c.*573C>T (n.*573C>T) c.75C>T (p.Phe25=) c.63C>T (p.Phe21=) | |
6 | g.42173689A= | CA1623929281 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*311A= (n.*311A=) c.*574A= (n.*574A=) c.76A= (p.Met26=) c.64A= (p.Met22=) | |
6 | g.42173689A>C | CA138135003 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*311A>C (n.*311A>C) c.*574A>C (n.*574A>C) c.76A>C (p.Met26Leu) c.64A>C (p.Met22Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.42173689A>G | CA364105492 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*311A>G (n.*311A>G) c.*574A>G (n.*574A>G) c.76A>G (p.Met26Val) c.64A>G (p.Met22Val) | gnomAD v4 |
6 | g.42173689A>T | CA364105494 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*311A>T (n.*311A>T) c.*574A>T (n.*574A>T) c.76A>T (p.Met26Leu) c.64A>T (p.Met22Leu) | |
6 | g.42173690T>A | CA364105496 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*312T>A (n.*312T>A) c.*575T>A (n.*575T>A) c.77T>A (p.Met26Lys) c.65T>A (p.Met22Lys) | gnomAD v4 |
6 | g.42173690T>C | CA364105499 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*312T>C (n.*312T>C) c.*575T>C (n.*575T>C) c.77T>C (p.Met26Thr) c.65T>C (p.Met22Thr) | gnomAD v4 |
6 | g.42173690T>G | CA364105511 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*312T>G (n.*312T>G) c.*575T>G (n.*575T>G) c.77T>G (p.Met26Arg) c.65T>G (p.Met22Arg) | |
6 | g.42173691G>A | CA364105515 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*313G>A (n.*313G>A) c.*576G>A (n.*576G>A) c.78G>A (p.Met26Ile) c.66G>A (p.Met22Ile) | COSMIC |
6 | g.42173691G>C | CA364105518 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*313G>C (n.*313G>C) c.*576G>C (n.*576G>C) c.78G>C (p.Met26Ile) c.66G>C (p.Met22Ile) | |
6 | g.42173691G>T | CA364105522 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*313G>T (n.*313G>T) c.*576G>T (n.*576G>T) c.78G>T (p.Met26Ile) c.66G>T (p.Met22Ile) | |
6 | g.42173692A>C | CA364105529 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*314A>C (n.*314A>C) c.*577A>C (n.*577A>C) c.79A>C (p.Thr27Pro) c.67A>C (p.Thr23Pro) | |
6 | g.42173692A>G | CA364105540 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*314A>G (n.*314A>G) c.*577A>G (n.*577A>G) c.79A>G (p.Thr27Ala) c.67A>G (p.Thr23Ala) | |
6 | g.42173692A>T | CA364105525 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*314A>T (n.*314A>T) c.*577A>T (n.*577A>T) c.79A>T (p.Thr27Ser) c.67A>T (p.Thr23Ser) | |
6 | g.42173693C>A | CA364105545 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*315C>A (n.*315C>A) c.*578C>A (n.*578C>A) c.80C>A (p.Thr27Asn) c.68C>A (p.Thr23Asn) | |
6 | g.42173693C= | CA1623929287 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*315C= (n.*315C=) c.*578C= (n.*578C=) c.80C= (p.Thr27=) c.68C= (p.Thr23=) | |
6 | g.42173693C>G | CA364105542 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*315C>G (n.*315C>G) c.*578C>G (n.*578C>G) c.80C>G (p.Thr27Ser) c.68C>G (p.Thr23Ser) | |
6 | g.42173693C>T | CA3805251 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*315C>T (n.*315C>T) c.*578C>T (n.*578C>T) c.80C>T (p.Thr27Ile) c.68C>T (p.Thr23Ile) | dbSNP ExAC gnomAD v2 COSMIC |
6 | g.42173694T>A | CA450240519 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*316T>A (n.*316T>A) c.*579T>A (n.*579T>A) c.81T>A (p.Thr27=) c.69T>A (p.Thr23=) | |
6 | g.42173694T>C | CA450240520 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*316T>C (n.*316T>C) c.*579T>C (n.*579T>C) c.81T>C (p.Thr27=) c.69T>C (p.Thr23=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.42173694T>G | CA450240521 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*316T>G (n.*316T>G) c.*579T>G (n.*579T>G) c.81T>G (p.Thr27=) c.69T>G (p.Thr23=) | |
6 | g.42173694T= | CA1623929291 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*316T= (n.*316T=) c.*579T= (n.*579T=) c.81T= (p.Thr27=) c.69T= (p.Thr23=) | |
6 | g.42173695G>A | CA3805253 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*317G>A (n.*317G>A) c.*580G>A (n.*580G>A) c.82G>A (p.Glu28Lys) c.70G>A (p.Glu24Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173695G>C | CA364105551 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*317G>C (n.*317G>C) c.*580G>C (n.*580G>C) c.82G>C (p.Glu28Gln) c.70G>C (p.Glu24Gln) | |
6 | g.42173695G= | CA1623929294 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*317G= (n.*317G=) c.*580G= (n.*580G=) c.82G= (p.Glu28=) c.70G= (p.Glu24=) | |
6 | g.42173695G>T | CA3805252 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*317G>T (n.*317G>T) c.*580G>T (n.*580G>T) c.82G>T (p.Glu28Ter) c.70G>T (p.Glu24Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173696A= | CA1623929298 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*318A= (n.*318A=) c.*581A= (n.*581A=) c.83A= (p.Glu28=) c.71A= (p.Glu24=) | |
6 | g.42173696A>C | CA364105555 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*318A>C (n.*318A>C) c.*581A>C (n.*581A>C) c.83A>C (p.Glu28Ala) c.71A>C (p.Glu24Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.42173696A>G | CA3805254 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*318A>G (n.*318A>G) c.*581A>G (n.*581A>G) c.83A>G (p.Glu28Gly) c.71A>G (p.Glu24Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173696A>T | CA364105567 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*318A>T (n.*318A>T) c.*581A>T (n.*581A>T) c.83A>T (p.Glu28Val) c.71A>T (p.Glu24Val) | |
6 | g.42173697G>A | CA450240525 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*319G>A (n.*319G>A) c.*582G>A (n.*582G>A) c.84G>A (p.Glu28=) c.72G>A (p.Glu24=) | gnomAD v4 |
6 | g.42173697G>C | CA364105570 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*319G>C (n.*319G>C) c.*582G>C (n.*582G>C) c.84G>C (p.Glu28Asp) c.72G>C (p.Glu24Asp) | |
6 | g.42173697G>T | CA364105572 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*319G>T (n.*319G>T) c.*582G>T (n.*582G>T) c.84G>T (p.Glu28Asp) c.72G>T (p.Glu24Asp) | |
6 | g.42173698T>A | CA3805256 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*320T>A (n.*320T>A) c.*583T>A (n.*583T>A) c.85T>A (p.Cys29Ser) c.73T>A (p.Cys25Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173698T>C | CA3805255 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*320T>C (n.*320T>C) c.*583T>C (n.*583T>C) c.85T>C (p.Cys29Arg) c.73T>C (p.Cys25Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173698T>G | CA364105579 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*320T>G (n.*320T>G) c.*583T>G (n.*583T>G) c.85T>G (p.Cys29Gly) c.73T>G (p.Cys25Gly) | |
6 | g.42173698T= | CA1623929301 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*320T= (n.*320T=) c.*583T= (n.*583T=) c.85T= (p.Cys29=) c.73T= (p.Cys25=) | |
6 | g.42173699G>A | CA364105585 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*321G>A (n.*321G>A) c.*584G>A (n.*584G>A) c.86G>A (p.Cys29Tyr) c.74G>A (p.Cys25Tyr) | ClinVar dbSNP gnomAD v4 |
6 | g.42173699G>C | CA364105581 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*321G>C (n.*321G>C) c.*584G>C (n.*584G>C) c.86G>C (p.Cys29Ser) c.74G>C (p.Cys25Ser) | |
6 | g.42173699G= | CA1623929306 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*321G= (n.*321G=) c.*584G= (n.*584G=) c.86G= (p.Cys29=) c.74G= (p.Cys25=) | |
6 | g.42173699G>T | CA364105584 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*321G>T (n.*321G>T) c.*584G>T (n.*584G>T) c.86G>T (p.Cys29Phe) c.74G>T (p.Cys25Phe) | |
6 | g.42173700C>A | CA364105586 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*322C>A (n.*322C>A) c.*585C>A (n.*585C>A) c.87C>A (p.Cys29Ter) c.75C>A (p.Cys25Ter) | |
6 | g.42173700C= | CA1623929313 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*322C= (n.*322C=) c.*585C= (n.*585C=) c.87C= (p.Cys29=) c.75C= (p.Cys25=) | |
6 | g.42173700C>G | CA364105587 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*322C>G (n.*322C>G) c.*585C>G (n.*585C>G) c.87C>G (p.Cys29Trp) c.75C>G (p.Cys25Trp) | |
6 | g.42173700C>T | CA3805257 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*322C>T (n.*322C>T) c.*585C>T (n.*585C>T) c.87C>T (p.Cys29=) c.75C>T (p.Cys25=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173703del | CA2580074508 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*325del (n.*325del) c.*588del (n.*588del) c.90del (p.Ser31LeufsTer18) c.78del (p.Ser27LeufsTer18) | ClinVar gnomAD v4 |
6 | g.42173701C>A | CA364105589 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*323C>A (n.*323C>A) c.*586C>A (n.*586C>A) c.88C>A (p.Pro30Thr) c.76C>A (p.Pro26Thr) | |
6 | g.42173701C= | CA1623929317 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*323C= (n.*323C=) c.*586C= (n.*586C=) c.88C= (p.Pro30=) c.76C= (p.Pro26=) | |
6 | g.42173701C>G | CA364105590 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*323C>G (n.*323C>G) c.*586C>G (n.*586C>G) c.88C>G (p.Pro30Ala) c.76C>G (p.Pro26Ala) | |
6 | g.42173701C>T | CA3805258 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*323C>T (n.*323C>T) c.*586C>T (n.*586C>T) c.88C>T (p.Pro30Ser) c.76C>T (p.Pro26Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173702C>A | CA364105596 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*324C>A (n.*324C>A) c.*587C>A (n.*587C>A) c.89C>A (p.Pro30His) c.77C>A (p.Pro26His) | |
6 | g.42173702C>G | CA364105597 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*324C>G (n.*324C>G) c.*587C>G (n.*587C>G) c.89C>G (p.Pro30Arg) c.77C>G (p.Pro26Arg) | |
6 | g.42173702C>T | CA364105600 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*324C>T (n.*324C>T) c.*587C>T (n.*587C>T) c.89C>T (p.Pro30Leu) c.77C>T (p.Pro26Leu) | |
6 | g.42173703C>A | CA450240536 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*325C>A (n.*325C>A) c.*588C>A (n.*588C>A) c.90C>A (p.Pro30=) c.78C>A (p.Pro26=) | |
6 | g.42173703C>G | CA450240537 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*325C>G (n.*325C>G) c.*588C>G (n.*588C>G) c.90C>G (p.Pro30=) c.78C>G (p.Pro26=) | |
6 | g.42173703C>T | CA450240538 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*325C>T (n.*325C>T) c.*588C>T (n.*588C>T) c.90C>T (p.Pro30=) c.78C>T (p.Pro26=) | |
6 | g.42173704T>A | CA364105603 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*326T>A (n.*326T>A) c.*589T>A (n.*589T>A) c.91T>A (p.Ser31Thr) c.79T>A (p.Ser27Thr) | |
6 | g.42173704T>C | CA364105606 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*326T>C (n.*326T>C) c.*589T>C (n.*589T>C) c.91T>C (p.Ser31Pro) c.79T>C (p.Ser27Pro) | |
6 | g.42173704T>G | CA364105608 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*326T>G (n.*326T>G) c.*589T>G (n.*589T>G) c.91T>G (p.Ser31Ala) c.79T>G (p.Ser27Ala) | |
6 | g.42173705C>A | CA364105616 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*327C>A (n.*327C>A) c.*590C>A (n.*590C>A) c.92C>A (p.Ser31Tyr) c.80C>A (p.Ser27Tyr) | |
6 | g.42173705C>G | CA364105614 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*327C>G (n.*327C>G) c.*590C>G (n.*590C>G) c.92C>G (p.Ser31Cys) c.80C>G (p.Ser27Cys) | gnomAD v4 |
6 | g.42173705C>T | CA364105612 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*327C>T (n.*327C>T) c.*590C>T (n.*590C>T) c.92C>T (p.Ser31Phe) c.80C>T (p.Ser27Phe) | |
6 | g.42173705dup | CA2770804701 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*327dup (n.*327dup) c.*590dup (n.*590dup) c.92dup (p.Gly32TrpfsTer7) c.80dup (p.Gly28TrpfsTer7) | |
6 | g.42173706T>A | CA450240540 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*328T>A (n.*328T>A) c.*591T>A (n.*591T>A) c.93T>A (p.Ser31=) c.81T>A (p.Ser27=) | |
6 | g.42173706T>C | CA3805259 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*328T>C (n.*328T>C) c.*591T>C (n.*591T>C) c.93T>C (p.Ser31=) c.81T>C (p.Ser27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173706T>G | CA3805260 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*328T>G (n.*328T>G) c.*591T>G (n.*591T>G) c.93T>G (p.Ser31=) c.81T>G (p.Ser27=) | dbSNP ExAC gnomAD v2 |
6 | g.42173706T= | CA1623929320 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*328T= (n.*328T=) c.*591T= (n.*591T=) c.93T= (p.Ser31=) c.81T= (p.Ser27=) | |
6 | g.42173707G>A | CA138135040 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*329G>A (n.*329G>A) c.*592G>A (n.*592G>A) c.94G>A (p.Gly32Ser) c.82G>A (p.Gly28Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173707G>C | CA364105623 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*329G>C (n.*329G>C) c.*592G>C (n.*592G>C) c.94G>C (p.Gly32Arg) c.82G>C (p.Gly28Arg) | |
6 | g.42173707G= | CA1623929326 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*329G= (n.*329G=) c.*592G= (n.*592G=) c.94G= (p.Gly32=) c.82G= (p.Gly28=) | |
6 | g.42173707G>T | CA364105626 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*329G>T (n.*329G>T) c.*592G>T (n.*592G>T) c.94G>T (p.Gly32Cys) c.82G>T (p.Gly28Cys) | |
6 | g.42173708G>A | CA364105641 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*330G>A (n.*330G>A) c.*593G>A (n.*593G>A) c.95G>A (p.Gly32Asp) c.83G>A (p.Gly28Asp) | |
6 | g.42173708G>C | CA364105633 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*330G>C (n.*330G>C) c.*593G>C (n.*593G>C) c.95G>C (p.Gly32Ala) c.83G>C (p.Gly28Ala) | |
6 | g.42173708G>T | CA364105630 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*330G>T (n.*330G>T) c.*593G>T (n.*593G>T) c.95G>T (p.Gly32Val) c.83G>T (p.Gly28Val) | |
6 | g.42173709C>A | CA450240544 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*331C>A (n.*331C>A) c.*594C>A (n.*594C>A) c.96C>A (p.Gly32=) c.84C>A (p.Gly28=) | |
6 | g.42173709C>G | CA450240545 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*331C>G (n.*331C>G) c.*594C>G (n.*594C>G) c.96C>G (p.Gly32=) c.84C>G (p.Gly28=) | |
6 | g.42173709C>T | CA450240546 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*331C>T (n.*331C>T) c.*594C>T (n.*594C>T) c.96C>T (p.Gly32=) c.84C>T (p.Gly28=) | |
6 | g.42173710C>A | CA364105643 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*332C>A (n.*332C>A) c.*595C>A (n.*595C>A) c.97C>A (p.Gln33Lys) c.85C>A (p.Gln29Lys) | |
6 | g.42173710C>G | CA364105645 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*332C>G (n.*332C>G) c.*595C>G (n.*595C>G) c.97C>G (p.Gln33Glu) c.85C>G (p.Gln29Glu) | |
6 | g.42173710C>T | CA364105647 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*332C>T (n.*332C>T) c.*595C>T (n.*595C>T) c.97C>T (p.Gln33Ter) c.85C>T (p.Gln29Ter) | gnomAD v4 |
6 | g.42173711A>C | CA364105648 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*333A>C (n.*333A>C) c.*596A>C (n.*596A>C) c.98A>C (p.Gln33Pro) c.86A>C (p.Gln29Pro) | |
6 | g.42173711A>G | CA364105649 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*333A>G (n.*333A>G) c.*596A>G (n.*596A>G) c.98A>G (p.Gln33Arg) c.86A>G (p.Gln29Arg) | |
6 | g.42173711A>T | CA364105650 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*333A>T (n.*333A>T) c.*596A>T (n.*596A>T) c.98A>T (p.Gln33Leu) c.86A>T (p.Gln29Leu) | |
6 | g.42173712A= | CA1623929330 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*334A= (n.*334A=) c.*597A= (n.*597A=) c.99A= (p.Gln33=) c.87A= (p.Gln29=) | |
6 | g.42173712A>C | CA364105651 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*334A>C (n.*334A>C) c.*597A>C (n.*597A>C) c.99A>C (p.Gln33His) c.87A>C (p.Gln29His) | gnomAD v4 |
6 | g.42173712A>G | CA3805261 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*334A>G (n.*334A>G) c.*597A>G (n.*597A>G) c.99A>G (p.Gln33=) c.87A>G (p.Gln29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173712A>T | CA364105653 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*334A>T (n.*334A>T) c.*597A>T (n.*597A>T) c.99A>T (p.Gln33His) c.87A>T (p.Gln29His) | |
6 | g.42173712_42173714delinsACT | CA1623929332 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*334_*336delinsACT (n.*334_*336delinsACT) c.*597_*599delinsACT (n.*597_*599delinsACT) c.99_101delinsACT (p.Gln33=) c.87_89delinsACT (p.Gln29=) | |
6 | g.42173713C>A | CA364105657 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*335C>A (n.*335C>A) c.*598C>A (n.*598C>A) c.100C>A (p.Leu34Ile) c.88C>A (p.Leu30Ile) | |
6 | g.42173713C= | CA1623929335 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*335C= (n.*335C=) c.*598C= (n.*598C=) c.100C= (p.Leu34=) c.88C= (p.Leu30=) | |
6 | g.42173713C>G | CA364105659 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*335C>G (n.*335C>G) c.*598C>G (n.*598C>G) c.100C>G (p.Leu34Val) c.88C>G (p.Leu30Val) | |
6 | g.42173713C>T | CA3805262 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*335C>T (n.*335C>T) c.*598C>T (n.*598C>T) c.100C>T (p.Leu34Phe) c.88C>T (p.Leu30Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173714_42173715del | CA567149277 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*336_*337del (n.*336_*337del) c.*599_*600del (n.*599_*600del) c.101_102del (p.Leu34HisfsTer4) c.89_90del (p.Leu30HisfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.42173714T>A | CA364105662 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*336T>A (n.*336T>A) c.*599T>A (n.*599T>A) c.101T>A (p.Leu34His) c.89T>A (p.Leu30His) | |
6 | g.42173714T>C | CA364105665 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*336T>C (n.*336T>C) c.*599T>C (n.*599T>C) c.101T>C (p.Leu34Pro) c.89T>C (p.Leu30Pro) | |
6 | g.42173714T>G | CA364105668 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*336T>G (n.*336T>G) c.*599T>G (n.*599T>G) c.101T>G (p.Leu34Arg) c.89T>G (p.Leu30Arg) | |
6 | g.42173715C>A | CA450240551 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*337C>A (n.*337C>A) c.*600C>A (n.*600C>A) c.102C>A (p.Leu34=) c.90C>A (p.Leu30=) | |
6 | g.42173715C>G | CA450240552 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*337C>G (n.*337C>G) c.*600C>G (n.*600C>G) c.102C>G (p.Leu34=) c.90C>G (p.Leu30=) | |
6 | g.42173715C>T | CA450240553 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*337C>T (n.*337C>T) c.*600C>T (n.*600C>T) c.102C>T (p.Leu34=) c.90C>T (p.Leu30=) | |
6 | g.42173716A>C | CA364105672 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*338A>C (n.*338A>C) c.*601A>C (n.*601A>C) c.103A>C (p.Thr35Pro) c.91A>C (p.Thr31Pro) | gnomAD v4 |
6 | g.42173716A>G | CA364105673 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*338A>G (n.*338A>G) c.*601A>G (n.*601A>G) c.103A>G (p.Thr35Ala) c.91A>G (p.Thr31Ala) | |
6 | g.42173716A>T | CA364105675 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*338A>T (n.*338A>T) c.*601A>T (n.*601A>T) c.103A>T (p.Thr35Ser) c.91A>T (p.Thr31Ser) | |
6 | g.42173717C>A | CA364105678 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*339C>A (n.*339C>A) c.*602C>A (n.*602C>A) c.104C>A (p.Thr35Asn) c.92C>A (p.Thr31Asn) | gnomAD v4 |
6 | g.42173717C>G | CA364105680 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*339C>G (n.*339C>G) c.*602C>G (n.*602C>G) c.104C>G (p.Thr35Ser) c.92C>G (p.Thr31Ser) | |
6 | g.42173717C>T | CA364105681 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*339C>T (n.*339C>T) c.*602C>T (n.*602C>T) c.104C>T (p.Thr35Ile) c.92C>T (p.Thr31Ile) | gnomAD v4 |
6 | g.42173718C>A | CA450240556 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*340C>A (n.*340C>A) c.*603C>A (n.*603C>A) c.105C>A (p.Thr35=) c.93C>A (p.Thr31=) | |
6 | g.42173718C= | CA1623929339 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*340C= (n.*340C=) c.*603C= (n.*603C=) c.105C= (p.Thr35=) c.93C= (p.Thr31=) | |
6 | g.42173718C>G | CA450240558 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*340C>G (n.*340C>G) c.*603C>G (n.*603C>G) c.105C>G (p.Thr35=) c.93C>G (p.Thr31=) | |
6 | g.42173718C>T | CA450240560 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*340C>T (n.*340C>T) c.*603C>T (n.*603C>T) c.105C>T (p.Thr35=) c.93C>T (p.Thr31=) | dbSNP gnomAD v4 |
6 | g.42173719C>A | CA364105685 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*341C>A (n.*341C>A) c.*604C>A (n.*604C>A) c.106C>A (p.Leu36Ile) c.94C>A (p.Leu32Ile) | |
6 | g.42173719C>G | CA364105683 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*341C>G (n.*341C>G) c.*604C>G (n.*604C>G) c.106C>G (p.Leu36Val) c.94C>G (p.Leu32Val) | |
6 | g.42173719C>T | CA364105682 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*341C>T (n.*341C>T) c.*604C>T (n.*604C>T) c.106C>T (p.Leu36Phe) c.94C>T (p.Leu32Phe) | |
6 | g.42173720T>A | CA364105691 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*342T>A (n.*342T>A) c.*605T>A (n.*605T>A) c.107T>A (p.Leu36His) c.95T>A (p.Leu32His) | |
6 | g.42173720T>C | CA364105688 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*342T>C (n.*342T>C) c.*605T>C (n.*605T>C) c.107T>C (p.Leu36Pro) c.95T>C (p.Leu32Pro) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.42173720T>G | CA364105693 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*342T>G (n.*342T>G) c.*605T>G (n.*605T>G) c.107T>G (p.Leu36Arg) c.95T>G (p.Leu32Arg) | |
6 | g.42173720T= | CA1623929342 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*342T= (n.*342T=) c.*605T= (n.*605T=) c.107T= (p.Leu36=) c.95T= (p.Leu32=) | |
6 | g.42173721C>A | CA450240562 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*343C>A (n.*343C>A) c.*606C>A (n.*606C>A) c.108C>A (p.Leu36=) c.96C>A (p.Leu32=) | |
6 | g.42173721C>G | CA450240563 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*343C>G (n.*343C>G) c.*606C>G (n.*606C>G) c.108C>G (p.Leu36=) c.96C>G (p.Leu32=) | |
6 | g.42173721C>T | CA450240564 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*343C>T (n.*343C>T) c.*606C>T (n.*606C>T) c.108C>T (p.Leu36=) c.96C>T (p.Leu32=) | |
6 | g.42173722T>A | CA364105696 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*344T>A (n.*344T>A) c.*607T>A (n.*607T>A) c.109T>A (p.Tyr37Asn) c.97T>A (p.Tyr33Asn) | |
6 | g.42173722T>C | CA364105699 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*344T>C (n.*344T>C) c.*607T>C (n.*607T>C) c.109T>C (p.Tyr37His) c.97T>C (p.Tyr33His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.42173722T>G | CA364105698 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*344T>G (n.*344T>G) c.*607T>G (n.*607T>G) c.109T>G (p.Tyr37Asp) c.97T>G (p.Tyr33Asp) | |
6 | g.42173722T= | CA1623929347 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*344T= (n.*344T=) c.*607T= (n.*607T=) c.109T= (p.Tyr37=) c.97T= (p.Tyr33=) | |
6 | g.42173723A= | CA1623929352 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*345A= (n.*345A=) c.*608A= (n.*608A=) c.110A= (p.Tyr37=) c.98A= (p.Tyr33=) | |
6 | g.42173723A>C | CA364105706 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*345A>C (n.*345A>C) c.*608A>C (n.*608A>C) c.110A>C (p.Tyr37Ser) c.98A>C (p.Tyr33Ser) | |
6 | g.42173723A>G | CA3805263 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*345A>G (n.*345A>G) c.*608A>G (n.*608A>G) c.110A>G (p.Tyr37Cys) c.98A>G (p.Tyr33Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173723A>T | CA3805264 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*345A>T (n.*345A>T) c.*608A>T (n.*608A>T) c.110A>T (p.Tyr37Phe) c.98A>T (p.Tyr33Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173724T>A | CA364105710 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*346T>A (n.*346T>A) c.*609T>A (n.*609T>A) c.111T>A (p.Tyr37Ter) c.99T>A (p.Tyr33Ter) | |
6 | g.42173724T>C | CA450240569 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*346T>C (n.*346T>C) c.*609T>C (n.*609T>C) c.111T>C (p.Tyr37=) c.99T>C (p.Tyr33=) | gnomAD v4 |
6 | g.42173724T>G | CA364105712 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*346T>G (n.*346T>G) c.*609T>G (n.*609T>G) c.111T>G (p.Tyr37Ter) c.99T>G (p.Tyr33Ter) | |
6 | g.42173725G>A | CA364105716 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*347G>A (n.*347G>A) c.*610G>A (n.*610G>A) c.112G>A (p.Glu38Lys) c.100G>A (p.Glu34Lys) | dbSNP |
6 | g.42173725G>C | CA364105720 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*347G>C (n.*347G>C) c.*610G>C (n.*610G>C) c.112G>C (p.Glu38Gln) c.100G>C (p.Glu34Gln) | |
6 | g.42173725G= | CA1623929357 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*347G= (n.*347G=) c.*610G= (n.*610G=) c.112G= (p.Glu38=) c.100G= (p.Glu34=) | |
6 | g.42173725G>T | CA364105719 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*347G>T (n.*347G>T) c.*610G>T (n.*610G>T) c.112G>T (p.Glu38Ter) c.100G>T (p.Glu34Ter) | COSMIC |
6 | g.42173726A>C | CA364105725 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*348A>C (n.*348A>C) c.*611A>C (n.*611A>C) c.113A>C (p.Glu38Ala) c.101A>C (p.Glu34Ala) | |
6 | g.42173726A>G | CA364105727 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*348A>G (n.*348A>G) c.*611A>G (n.*611A>G) c.113A>G (p.Glu38Gly) c.101A>G (p.Glu34Gly) | |
6 | g.42173726A>T | CA364105730 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*348A>T (n.*348A>T) c.*611A>T (n.*611A>T) c.113A>T (p.Glu38Val) c.101A>T (p.Glu34Val) | |
6 | g.42173727G>A | CA450240570 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*349G>A (n.*349G>A) c.*612G>A (n.*612G>A) c.114G>A (p.Glu38=) c.102G>A (p.Glu34=) | dbSNP gnomAD v4 |
6 | g.42173727G>C | CA364105732 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*349G>C (n.*349G>C) c.*612G>C (n.*612G>C) c.114G>C (p.Glu38Asp) c.102G>C (p.Glu34Asp) | |
6 | g.42173727G= | CA1623929361 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*349G= (n.*349G=) c.*612G= (n.*612G=) c.114G= (p.Glu38=) c.102G= (p.Glu34=) | |
6 | g.42173727G>T | CA364105735 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*349G>T (n.*349G>T) c.*612G>T (n.*612G>T) c.114G>T (p.Glu38Asp) c.102G>T (p.Glu34Asp) | |
6 | g.42173728T>A | CA364105739 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*350T>A (n.*350T>A) c.*613T>A (n.*613T>A) c.115T>A (p.Phe39Ile) c.103T>A (p.Phe35Ile) | |
6 | g.42173728T>C | CA364105741 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*350T>C (n.*350T>C) c.*613T>C (n.*613T>C) c.115T>C (p.Phe39Leu) c.103T>C (p.Phe35Leu) | |
6 | g.42173728T>G | CA364105743 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*350T>G (n.*350T>G) c.*613T>G (n.*613T>G) c.115T>G (p.Phe39Val) c.103T>G (p.Phe35Val) | |
6 | g.42173729T>A | CA364105748 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*351T>A (n.*351T>A) c.*614T>A (n.*614T>A) c.116T>A (p.Phe39Tyr) c.104T>A (p.Phe35Tyr) | |
6 | g.42173729T>C | CA364105749 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*351T>C (n.*351T>C) c.*614T>C (n.*614T>C) c.116T>C (p.Phe39Ser) c.104T>C (p.Phe35Ser) | |
6 | g.42173729T>G | CA364105753 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*351T>G (n.*351T>G) c.*614T>G (n.*614T>G) c.116T>G (p.Phe39Cys) c.104T>G (p.Phe35Cys) | |
6 | g.42173730C>A | CA364105759 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*352C>A (n.*352C>A) c.*615C>A (n.*615C>A) c.117C>A (p.Phe39Leu) c.105C>A (p.Phe35Leu) | |
6 | g.42173730C= | CA1623929364 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*352C= (n.*352C=) c.*615C= (n.*615C=) c.117C= (p.Phe39=) c.105C= (p.Phe35=) | |
6 | g.42173730C>G | CA364105757 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*352C>G (n.*352C>G) c.*615C>G (n.*615C>G) c.117C>G (p.Phe39Leu) c.105C>G (p.Phe35Leu) | dbSNP |
6 | g.42173730C>T | CA450240574 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*352C>T (n.*352C>T) c.*615C>T (n.*615C>T) c.117C>T (p.Phe39=) c.105C>T (p.Phe35=) | gnomAD v4 |
6 | g.42173731del | CA2678750615 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*353del (n.*353del) c.*616del (n.*616del) c.118del (p.Arg40AlafsTer9) c.106del (p.Arg36AlafsTer9) | gnomAD v4 |
6 | g.42173731C>A | CA364105761 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*353C>A (n.*353C>A) c.*616C>A (n.*616C>A) c.118C>A (p.Arg40Ser) c.106C>A (p.Arg36Ser) | |
6 | g.42173731C= | CA1623929368 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*353C= (n.*353C=) c.*616C= (n.*616C=) c.118C= (p.Arg40=) c.106C= (p.Arg36=) | |
6 | g.42173731C>G | CA364105762 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*353C>G (n.*353C>G) c.*616C>G (n.*616C>G) c.118C>G (p.Arg40Gly) c.106C>G (p.Arg36Gly) | |
6 | g.42173731C>T | CA3805265 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*353C>T (n.*353C>T) c.*616C>T (n.*616C>T) c.118C>T (p.Arg40Cys) c.106C>T (p.Arg36Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173731_42173743delinsCGCCAGTTCTTCG | CA1623929369 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*353_*365delinsCGCCAGTTCTTCG (n.*353_*365delinsCGCCAGTTCTTCG) c.*616_*628delinsCGCCAGTTCTTCG (n.*616_*628delinsCGCCAGTTCTTCG) c.118_130delinsCGCCAGTTCTTCG (p.Arg40=) c.106_118delinsCGCCAGTTCTTCG (p.Arg36=) | |
6 | g.42173732G>A | CA3805267 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*354G>A (n.*354G>A) c.*617G>A (n.*617G>A) c.119G>A (p.Arg40His) c.107G>A (p.Arg36His) c.-164G>A (n.-164G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173732G>C | CA364105767 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*354G>C (n.*354G>C) c.*617G>C (n.*617G>C) c.119G>C (p.Arg40Pro) c.107G>C (p.Arg36Pro) c.-164G>C (n.-164G>C) | ClinVar gnomAD v4 |
6 | g.42173732G= | CA1623929375 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*354G= (n.*354G=) c.*617G= (n.*617G=) c.119G= (p.Arg40=) c.107G= (p.Arg36=) c.-164G= (n.-164G=) | |
6 | g.42173732G>T | CA3805266 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*354G>T (n.*354G>T) c.*617G>T (n.*617G>T) c.119G>T (p.Arg40Leu) c.107G>T (p.Arg36Leu) c.-164G>T (n.-164G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.42173735_42173746del | CA1623929374 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*357_*368del (n.*357_*368del) c.*620_*631del (n.*620_*631del) c.122_133del (p.Gln41_Gly44del) c.110_121del (p.Gln37_Gly40del) c.-161_-150del (n.-161_-150del) | dbSNP |
6 | g.42173733C>A | CA450240579 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*355C>A (n.*355C>A) c.*618C>A (n.*618C>A) c.120C>A (p.Arg40=) c.108C>A (p.Arg36=) c.-163C>A (n.-163C>A) | |
6 | g.42173733C>G | CA450240580 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*355C>G (n.*355C>G) c.*618C>G (n.*618C>G) c.120C>G (p.Arg40=) c.108C>G (p.Arg36=) c.-163C>G (n.-163C>G) | |
6 | g.42173733C>T | CA450240577 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*355C>T (n.*355C>T) c.*618C>T (n.*618C>T) c.120C>T (p.Arg40=) c.108C>T (p.Arg36=) c.-163C>T (n.-163C>T) | |
6 | g.42173734C>A | CA364105771 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*356C>A (n.*356C>A) c.*619C>A (n.*619C>A) c.121C>A (p.Gln41Lys) c.109C>A (p.Gln37Lys) c.-162C>A (n.-162C>A) | |
6 | g.42173734C= | CA1623929382 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*356C= (n.*356C=) c.*619C= (n.*619C=) c.121C= (p.Gln41=) c.109C= (p.Gln37=) c.-162C= (n.-162C=) | |
6 | g.42173734C>G | CA364105773 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*356C>G (n.*356C>G) c.*619C>G (n.*619C>G) c.121C>G (p.Gln41Glu) c.109C>G (p.Gln37Glu) c.-162C>G (n.-162C>G) | |
6 | g.42173734C>T | CA364105776 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*356C>T (n.*356C>T) c.*619C>T (n.*619C>T) c.121C>T (p.Gln41Ter) c.109C>T (p.Gln37Ter) c.-162C>T (n.-162C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.42173735A>C | CA364105779 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*357A>C (n.*357A>C) c.*620A>C (n.*620A>C) c.122A>C (p.Gln41Pro) c.110A>C (p.Gln37Pro) c.-161A>C (n.-161A>C) | |
6 | g.42173735A>G | CA364105782 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*357A>G (n.*357A>G) c.*620A>G (n.*620A>G) c.122A>G (p.Gln41Arg) c.110A>G (p.Gln37Arg) c.-161A>G (n.-161A>G) | |
6 | g.42173735A>T | CA364105785 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*357A>T (n.*357A>T) c.*620A>T (n.*620A>T) c.122A>T (p.Gln41Leu) c.110A>T (p.Gln37Leu) c.-161A>T (n.-161A>T) | |
6 | g.42173736G>A | CA450240584 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*358G>A (n.*358G>A) c.*621G>A (n.*621G>A) c.123G>A (p.Gln41=) c.111G>A (p.Gln37=) c.-160G>A (n.-160G>A) | |
6 | g.42173736G>C | CA364105787 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*358G>C (n.*358G>C) c.*621G>C (n.*621G>C) c.123G>C (p.Gln41His) c.111G>C (p.Gln37His) c.-160G>C (n.-160G>C) | ClinVar dbSNP |
6 | g.42173736G>T | CA364105789 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*358G>T (n.*358G>T) c.*621G>T (n.*621G>T) c.123G>T (p.Gln41His) c.111G>T (p.Gln37His) c.-160G>T (n.-160G>T) | |
6 | g.42173737T>A | CA3805268 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*359T>A (n.*359T>A) c.*622T>A (n.*622T>A) c.124T>A (p.Phe42Ile) c.112T>A (p.Phe38Ile) c.-159T>A (n.-159T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173737T>C | CA364105794 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*359T>C (n.*359T>C) c.*622T>C (n.*622T>C) c.124T>C (p.Phe42Leu) c.112T>C (p.Phe38Leu) c.-159T>C (n.-159T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173737T>G | CA364105802 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*359T>G (n.*359T>G) c.*622T>G (n.*622T>G) c.124T>G (p.Phe42Val) c.112T>G (p.Phe38Val) c.-159T>G (n.-159T>G) | |
6 | g.42173737T= | CA1623929387 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*359T= (n.*359T=) c.*622T= (n.*622T=) c.124T= (p.Phe42=) c.112T= (p.Phe38=) c.-159T= (n.-159T=) | |
6 | g.42173738T>A | CA3805269 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*360T>A (n.*360T>A) c.*623T>A (n.*623T>A) c.125T>A (p.Phe42Tyr) c.113T>A (p.Phe38Tyr) c.-158T>A (n.-158T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173738T>C | CA364105807 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*360T>C (n.*360T>C) c.*623T>C (n.*623T>C) c.125T>C (p.Phe42Ser) c.113T>C (p.Phe38Ser) c.-158T>C (n.-158T>C) | gnomAD v4 |
6 | g.42173738T>G | CA364105810 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*360T>G (n.*360T>G) c.*623T>G (n.*623T>G) c.125T>G (p.Phe42Cys) c.113T>G (p.Phe38Cys) c.-158T>G (n.-158T>G) | |
6 | g.42173738T= | CA1623929390 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*360T= (n.*360T=) c.*623T= (n.*623T=) c.125T= (p.Phe42=) c.113T= (p.Phe38=) c.-158T= (n.-158T=) | |
6 | g.42173739C>A | CA364105811 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*361C>A (n.*361C>A) c.*624C>A (n.*624C>A) c.126C>A (p.Phe42Leu) c.114C>A (p.Phe38Leu) c.-157C>A (n.-157C>A) | COSMIC |
6 | g.42173739C>G | CA364105814 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*361C>G (n.*361C>G) c.*624C>G (n.*624C>G) c.126C>G (p.Phe42Leu) c.114C>G (p.Phe38Leu) c.-157C>G (n.-157C>G) | |
6 | g.42173739C>T | CA450240587 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*361C>T (n.*361C>T) c.*624C>T (n.*624C>T) c.126C>T (p.Phe42=) c.114C>T (p.Phe38=) c.-157C>T (n.-157C>T) | ClinVar |
6 | g.42173740T>A | CA364105816 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*362T>A (n.*362T>A) c.*625T>A (n.*625T>A) c.127T>A (p.Phe43Ile) c.115T>A (p.Phe39Ile) c.-156T>A (n.-156T>A) | |
6 | g.42173740T>C | CA364105818 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*362T>C (n.*362T>C) c.*625T>C (n.*625T>C) c.127T>C (p.Phe43Leu) c.115T>C (p.Phe39Leu) c.-156T>C (n.-156T>C) | gnomAD v4 |
6 | g.42173740T>G | CA364105819 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*362T>G (n.*362T>G) c.*625T>G (n.*625T>G) c.127T>G (p.Phe43Val) c.115T>G (p.Phe39Val) c.-156T>G (n.-156T>G) | |
6 | g.42173741T>A | CA364105822 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*363T>A (n.*363T>A) c.*626T>A (n.*626T>A) c.128T>A (p.Phe43Tyr) c.116T>A (p.Phe39Tyr) c.-155T>A (n.-155T>A) | |
6 | g.42173741T>C | CA364105821 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*363T>C (n.*363T>C) c.*626T>C (n.*626T>C) c.128T>C (p.Phe43Ser) c.116T>C (p.Phe39Ser) c.-155T>C (n.-155T>C) | |
6 | g.42173741T>G | CA364105820 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*363T>G (n.*363T>G) c.*626T>G (n.*626T>G) c.128T>G (p.Phe43Cys) c.116T>G (p.Phe39Cys) c.-155T>G (n.-155T>G) | |
6 | g.42173742C>A | CA364105824 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*364C>A (n.*364C>A) c.*627C>A (n.*627C>A) c.129C>A (p.Phe43Leu) c.117C>A (p.Phe39Leu) c.-154C>A (n.-154C>A) | |
6 | g.42173742C= | CA1623929393 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*364C= (n.*364C=) c.*627C= (n.*627C=) c.129C= (p.Phe43=) c.117C= (p.Phe39=) c.-154C= (n.-154C=) | |
6 | g.42173742C>G | CA364105826 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*364C>G (n.*364C>G) c.*627C>G (n.*627C>G) c.129C>G (p.Phe43Leu) c.117C>G (p.Phe39Leu) c.-154C>G (n.-154C>G) | |
6 | g.42173742C>T | CA3805270 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*364C>T (n.*364C>T) c.*627C>T (n.*627C>T) c.129C>T (p.Phe43=) c.117C>T (p.Phe39=) c.-154C>T (n.-154C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173743G>A | CA3805271 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*365G>A (n.*365G>A) c.*628G>A (n.*628G>A) c.130G>A (p.Gly44Ser) c.118G>A (p.Gly40Ser) c.-153G>A (n.-153G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173743G>C | CA364105829 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*365G>C (n.*365G>C) c.*628G>C (n.*628G>C) c.130G>C (p.Gly44Arg) c.118G>C (p.Gly40Arg) c.-153G>C (n.-153G>C) | |
6 | g.42173743G= | CA1623929398 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*365G= (n.*365G=) c.*628G= (n.*628G=) c.130G= (p.Gly44=) c.118G= (p.Gly40=) c.-153G= (n.-153G=) | |
6 | g.42173743G>T | CA364105831 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*365G>T (n.*365G>T) c.*628G>T (n.*628G>T) c.130G>T (p.Gly44Cys) c.118G>T (p.Gly40Cys) c.-153G>T (n.-153G>T) | |
6 | g.42173744G>A | CA364105834 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*366G>A (n.*366G>A) c.*629G>A (n.*629G>A) c.131G>A (p.Gly44Asp) c.119G>A (p.Gly40Asp) c.-152G>A (n.-152G>A) | |
6 | g.42173744G>C | CA364105837 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*366G>C (n.*366G>C) c.*629G>C (n.*629G>C) c.131G>C (p.Gly44Ala) c.119G>C (p.Gly40Ala) c.-152G>C (n.-152G>C) | |
6 | g.42173744G>T | CA364105842 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*366G>T (n.*366G>T) c.*629G>T (n.*629G>T) c.131G>T (p.Gly44Val) c.119G>T (p.Gly40Val) c.-152G>T (n.-152G>T) | |
6 | g.42173745C>A | CA450240591 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*367C>A (n.*367C>A) c.*630C>A (n.*630C>A) c.132C>A (p.Gly44=) c.120C>A (p.Gly40=) c.-151C>A (n.-151C>A) | |
6 | g.42173745C>G | CA450240592 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*367C>G (n.*367C>G) c.*630C>G (n.*630C>G) c.132C>G (p.Gly44=) c.120C>G (p.Gly40=) c.-151C>G (n.-151C>G) | gnomAD v4 |
6 | g.42173745C>T | CA450240593 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*367C>T (n.*367C>T) c.*630C>T (n.*630C>T) c.132C>T (p.Gly44=) c.120C>T (p.Gly40=) c.-151C>T (n.-151C>T) | |
6 | g.42173746C>A | CA364105843 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*368C>A (n.*368C>A) c.*631C>A (n.*631C>A) c.133C>A (p.Leu45Ile) c.121C>A (p.Leu41Ile) c.-150C>A (n.-150C>A) | |
6 | g.42173746C= | CA1623929404 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*368C= (n.*368C=) c.*631C= (n.*631C=) c.133C= (p.Leu45=) c.121C= (p.Leu41=) c.-150C= (n.-150C=) | |
6 | g.42173746C>G | CA364105846 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*368C>G (n.*368C>G) c.*631C>G (n.*631C>G) c.133C>G (p.Leu45Val) c.121C>G (p.Leu41Val) c.-150C>G (n.-150C>G) | |
6 | g.42173746C>T | CA364105849 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*368C>T (n.*368C>T) c.*631C>T (n.*631C>T) c.133C>T (p.Leu45Phe) c.121C>T (p.Leu41Phe) c.-150C>T (n.-150C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.42173747T>A | CA364105852 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*369T>A (n.*369T>A) c.*632T>A (n.*632T>A) c.134T>A (p.Leu45His) c.122T>A (p.Leu41His) c.-149T>A (n.-149T>A) | |
6 | g.42173747T>C | CA364105856 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*369T>C (n.*369T>C) c.*632T>C (n.*632T>C) c.134T>C (p.Leu45Pro) c.122T>C (p.Leu41Pro) c.-149T>C (n.-149T>C) | |
6 | g.42173747T>G | CA364105851 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*369T>G (n.*369T>G) c.*632T>G (n.*632T>G) c.134T>G (p.Leu45Arg) c.122T>G (p.Leu41Arg) c.-149T>G (n.-149T>G) | |
6 | g.42173748C>A | CA450240595 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*370C>A (n.*370C>A) c.*633C>A (n.*633C>A) c.135C>A (p.Leu45=) c.123C>A (p.Leu41=) c.-148C>A (n.-148C>A) | |
6 | g.42173748C>G | CA450240596 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*370C>G (n.*370C>G) c.*633C>G (n.*633C>G) c.135C>G (p.Leu45=) c.123C>G (p.Leu41=) c.-148C>G (n.-148C>G) | |
6 | g.42173748C>T | CA450240597 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*370C>T (n.*370C>T) c.*633C>T (n.*633C>T) c.135C>T (p.Leu45=) c.123C>T (p.Leu41=) c.-148C>T (n.-148C>T) | |
6 | g.42173749A>C | CA364105860 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*371A>C (n.*371A>C) c.*634A>C (n.*634A>C) c.136A>C (p.Lys46Gln) c.124A>C (p.Lys42Gln) c.-147A>C (n.-147A>C) | |
6 | g.42173749A>G | CA364105858 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*371A>G (n.*371A>G) c.*634A>G (n.*634A>G) c.136A>G (p.Lys46Glu) c.124A>G (p.Lys42Glu) c.-147A>G (n.-147A>G) | |
6 | g.42173749A>T | CA364105859 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*371A>T (n.*371A>T) c.*634A>T (n.*634A>T) c.136A>T (p.Lys46Ter) c.124A>T (p.Lys42Ter) c.-147A>T (n.-147A>T) | |
6 | g.42173750A>C | CA364105863 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*372A>C (n.*372A>C) c.*635A>C (n.*635A>C) c.137A>C (p.Lys46Thr) c.125A>C (p.Lys42Thr) c.-146A>C (n.-146A>C) | gnomAD v4 |
6 | g.42173750A>G | CA364105865 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*372A>G (n.*372A>G) c.*635A>G (n.*635A>G) c.137A>G (p.Lys46Arg) c.125A>G (p.Lys42Arg) c.-146A>G (n.-146A>G) | gnomAD v4 |
6 | g.42173750A>T | CA364105867 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*372A>T (n.*372A>T) c.*635A>T (n.*635A>T) c.137A>T (p.Lys46Met) c.125A>T (p.Lys42Met) c.-146A>T (n.-146A>T) | |
6 | g.42173751G>A | CA450240602 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*373G>A (n.*373G>A) c.*636G>A (n.*636G>A) c.138G>A (p.Lys46=) c.126G>A (p.Lys42=) c.-145G>A (n.-145G>A) | dbSNP |
6 | g.42173751G>C | CA364105871 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*373G>C (n.*373G>C) c.*636G>C (n.*636G>C) c.138G>C (p.Lys46Asn) c.126G>C (p.Lys42Asn) c.-145G>C (n.-145G>C) | |
6 | g.42173751G>T | CA364105874 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*373G>T (n.*373G>T) c.*636G>T (n.*636G>T) c.138G>T (p.Lys46Asn) c.126G>T (p.Lys42Asn) c.-145G>T (n.-145G>T) | |
6 | g.42173752A>C | CA364105876 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*374A>C (n.*374A>C) c.*637A>C (n.*637A>C) c.139A>C (p.Asn47His) c.127A>C (p.Asn43His) c.-144A>C (n.-144A>C) | |
6 | g.42173752A>G | CA364105879 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*374A>G (n.*374A>G) c.*637A>G (n.*637A>G) c.139A>G (p.Asn47Asp) c.127A>G (p.Asn43Asp) c.-144A>G (n.-144A>G) | |
6 | g.42173752A>T | CA364105881 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*374A>T (n.*374A>T) c.*637A>T (n.*637A>T) c.139A>T (p.Asn47Tyr) c.127A>T (p.Asn43Tyr) c.-144A>T (n.-144A>T) | |
6 | g.42173753A= | CA1623929408 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*375A= (n.*375A=) c.*638A= (n.*638A=) c.140A= (p.Asn47=) c.128A= (p.Asn43=) c.-143A= (n.-143A=) | |
6 | g.42173753A>C | CA364105883 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*375A>C (n.*375A>C) c.*638A>C (n.*638A>C) c.140A>C (p.Asn47Thr) c.128A>C (p.Asn43Thr) c.-143A>C (n.-143A>C) | dbSNP |
6 | g.42173753A>G | CA364105885 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*375A>G (n.*375A>G) c.*638A>G (n.*638A>G) c.140A>G (p.Asn47Ser) c.128A>G (p.Asn43Ser) c.-143A>G (n.-143A>G) | |
6 | g.42173753A>T | CA364105887 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*375A>T (n.*375A>T) c.*638A>T (n.*638A>T) c.140A>T (p.Asn47Ile) c.128A>T (p.Asn43Ile) c.-143A>T (n.-143A>T) | |
6 | g.42173754C>A | CA364105890 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*376C>A (n.*376C>A) c.*639C>A (n.*639C>A) c.141C>A (p.Asn47Lys) c.129C>A (p.Asn43Lys) c.-142C>A (n.-142C>A) | gnomAD v4 |
6 | g.42173754C>G | CA364105891 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*376C>G (n.*376C>G) c.*639C>G (n.*639C>G) c.141C>G (p.Asn47Lys) c.129C>G (p.Asn43Lys) c.-142C>G (n.-142C>G) | |
6 | g.42173754C>T | CA450240606 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*376C>T (n.*376C>T) c.*639C>T (n.*639C>T) c.141C>T (p.Asn47=) c.129C>T (p.Asn43=) c.-142C>T (n.-142C>T) | |
6 | g.42173755C>A | CA364105894 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*377C>A (n.*377C>A) c.*640C>A (n.*640C>A) c.142C>A (p.Leu48Met) c.130C>A (p.Leu44Met) c.-141C>A (n.-141C>A) | dbSNP gnomAD v4 COSMIC |
6 | g.42173755C= | CA1623929413 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*377C= (n.*377C=) c.*640C= (n.*640C=) c.142C= (p.Leu48=) c.130C= (p.Leu44=) c.-141C= (n.-141C=) | |
6 | g.42173755C>G | CA364105897 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*377C>G (n.*377C>G) c.*640C>G (n.*640C>G) c.142C>G (p.Leu48Val) c.130C>G (p.Leu44Val) c.-141C>G (n.-141C>G) | |
6 | g.42173755C>T | CA234102 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*377C>T (n.*377C>T) c.*640C>T (n.*640C>T) c.142C>T (p.Leu48=) c.130C>T (p.Leu44=) c.-141C>T (n.-141C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173756T>A | CA364105900 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*378T>A (n.*378T>A) c.*641T>A (n.*641T>A) c.143T>A (p.Leu48Gln) c.131T>A (p.Leu44Gln) c.-140T>A (n.-140T>A) | |
6 | g.42173756T>C | CA364105902 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*378T>C (n.*378T>C) c.*641T>C (n.*641T>C) c.143T>C (p.Leu48Pro) c.131T>C (p.Leu44Pro) c.-140T>C (n.-140T>C) | COSMIC |
6 | g.42173756T>G | CA364105904 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*378T>G (n.*378T>G) c.*641T>G (n.*641T>G) c.143T>G (p.Leu48Arg) c.131T>G (p.Leu44Arg) c.-140T>G (n.-140T>G) | |
6 | g.42173757G>A | CA450240611 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*379G>A (n.*379G>A) c.*642G>A (n.*642G>A) c.144G>A (p.Leu48=) c.132G>A (p.Leu44=) c.-139G>A (n.-139G>A) | |
6 | g.42173757G>C | CA450240610 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*379G>C (n.*379G>C) c.*642G>C (n.*642G>C) c.144G>C (p.Leu48=) c.132G>C (p.Leu44=) c.-139G>C (n.-139G>C) | gnomAD v4 |
6 | g.42173757G>T | CA450240608 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*379G>T (n.*379G>T) c.*642G>T (n.*642G>T) c.144G>T (p.Leu48=) c.132G>T (p.Leu44=) c.-139G>T (n.-139G>T) | |
6 | g.42173758A= | CA1623929416 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*380A= (n.*380A=) c.*643A= (n.*643A=) c.145A= (p.Ser49=) c.133A= (p.Ser45=) c.-138A= (n.-138A=) | |
6 | g.42173758A>C | CA3805272 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*380A>C (n.*380A>C) c.*643A>C (n.*643A>C) c.145A>C (p.Ser49Arg) c.133A>C (p.Ser45Arg) c.-138A>C (n.-138A>C) | dbSNP ExAC gnomAD v2 |
6 | g.42173758A>G | CA364105908 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*380A>G (n.*380A>G) c.*643A>G (n.*643A>G) c.145A>G (p.Ser49Gly) c.133A>G (p.Ser45Gly) c.-138A>G (n.-138A>G) | |
6 | g.42173758A>T | CA364105911 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*380A>T (n.*380A>T) c.*643A>T (n.*643A>T) c.145A>T (p.Ser49Cys) c.133A>T (p.Ser45Cys) c.-138A>T (n.-138A>T) | |
6 | g.42173759G>A | CA364105913 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*381G>A (n.*381G>A) c.*644G>A (n.*644G>A) c.146G>A (p.Ser49Asn) c.134G>A (p.Ser45Asn) c.-137G>A (n.-137G>A) | |
6 | g.42173759G>C | CA364105915 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*381G>C (n.*381G>C) c.*644G>C (n.*644G>C) c.146G>C (p.Ser49Thr) c.134G>C (p.Ser45Thr) c.-137G>C (n.-137G>C) | |
6 | g.42173759G>T | CA364105918 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*381G>T (n.*381G>T) c.*644G>T (n.*644G>T) c.146G>T (p.Ser49Ile) c.134G>T (p.Ser45Ile) c.-137G>T (n.-137G>T) | |
6 | g.42173760C>A | CA364105923 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*382C>A (n.*382C>A) c.*645C>A (n.*645C>A) c.147C>A (p.Ser49Arg) c.135C>A (p.Ser45Arg) c.-136C>A (n.-136C>A) | gnomAD v4 |
6 | g.42173760C>G | CA364105921 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*382C>G (n.*382C>G) c.*645C>G (n.*645C>G) c.147C>G (p.Ser49Arg) c.135C>G (p.Ser45Arg) c.-136C>G (n.-136C>G) | |
6 | g.42173760C>T | CA450240613 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*382C>T (n.*382C>T) c.*645C>T (n.*645C>T) c.147C>T (p.Ser49=) c.135C>T (p.Ser45=) c.-136C>T (n.-136C>T) | |
6 | g.42173761C>A | CA364105926 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*383C>A (n.*383C>A) c.*646C>A (n.*646C>A) c.148C>A (p.Pro50Thr) c.136C>A (p.Pro46Thr) c.-135C>A (n.-135C>A) | |
6 | g.42173761C= | CA1623929422 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*383C= (n.*383C=) c.*646C= (n.*646C=) c.148C= (p.Pro50=) c.136C= (p.Pro46=) c.-135C= (n.-135C=) | |
6 | g.42173761C>G | CA364105928 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*383C>G (n.*383C>G) c.*646C>G (n.*646C>G) c.148C>G (p.Pro50Ala) c.136C>G (p.Pro46Ala) c.-135C>G (n.-135C>G) | gnomAD v4 |
6 | g.42173761C>T | CA364105929 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*383C>T (n.*383C>T) c.*646C>T (n.*646C>T) c.148C>T (p.Pro50Ser) c.136C>T (p.Pro46Ser) c.-135C>T (n.-135C>T) | dbSNP |
6 | g.42173762C>A | CA364105931 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*384C>A (n.*384C>A) c.*647C>A (n.*647C>A) c.149C>A (p.Pro50Gln) c.137C>A (p.Pro46Gln) c.-134C>A (n.-134C>A) | gnomAD v4 |
6 | g.42173762C= | CA1623929428 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*384C= (n.*384C=) c.*647C= (n.*647C=) c.149C= (p.Pro50=) c.137C= (p.Pro46=) c.-134C= (n.-134C=) | |
6 | g.42173762C>G | CA3805273 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*384C>G (n.*384C>G) c.*647C>G (n.*647C>G) c.149C>G (p.Pro50Arg) c.137C>G (p.Pro46Arg) c.-134C>G (n.-134C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173762C>T | CA120149 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*384C>T (n.*384C>T) c.*647C>T (n.*647C>T) c.149C>T (p.Pro50Leu) c.137C>T (p.Pro46Leu) c.-134C>T (n.-134C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173763G>A | CA3805274 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*385G>A (n.*385G>A) c.*648G>A (n.*648G>A) c.150G>A (p.Pro50=) c.138G>A (p.Pro46=) c.-133G>A (n.-133G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173763G>C | CA450240617 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*385G>C (n.*385G>C) c.*648G>C (n.*648G>C) c.150G>C (p.Pro50=) c.138G>C (p.Pro46=) c.-133G>C (n.-133G>C) | |
6 | g.42173763G= | CA1623929432 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*385G= (n.*385G=) c.*648G= (n.*648G=) c.150G= (p.Pro50=) c.138G= (p.Pro46=) c.-133G= (n.-133G=) | |
6 | g.42173763G>T | CA450240619 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*385G>T (n.*385G>T) c.*648G>T (n.*648G>T) c.150G>T (p.Pro50=) c.138G>T (p.Pro46=) c.-133G>T (n.-133G>T) | |
6 | g.42173764T>A | CA364105940 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*386T>A (n.*386T>A) c.*649T>A (n.*649T>A) c.151T>A (p.Ser51Thr) c.139T>A (p.Ser47Thr) c.-132T>A (n.-132T>A) | |
6 | g.42173764T>C | CA364105944 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*386T>C (n.*386T>C) c.*649T>C (n.*649T>C) c.151T>C (p.Ser51Pro) c.139T>C (p.Ser47Pro) c.-132T>C (n.-132T>C) | |
6 | g.42173764T>G | CA364105942 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*386T>G (n.*386T>G) c.*649T>G (n.*649T>G) c.151T>G (p.Ser51Ala) c.139T>G (p.Ser47Ala) c.-132T>G (n.-132T>G) | |
6 | g.42173765C>A | CA364105948 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*387C>A (n.*387C>A) c.*650C>A (n.*650C>A) c.152C>A (p.Ser51Ter) c.140C>A (p.Ser47Ter) c.-131C>A (n.-131C>A) | |
6 | g.42173765C= | CA1623929438 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*387C= (n.*387C=) c.*650C= (n.*650C=) c.152C= (p.Ser51=) c.140C= (p.Ser47=) c.-131C= (n.-131C=) | |
6 | g.42173765C>G | CA364105950 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*387C>G (n.*387C>G) c.*650C>G (n.*650C>G) c.152C>G (p.Ser51Trp) c.140C>G (p.Ser47Trp) c.-131C>G (n.-131C>G) | |
6 | g.42173765C>T | CA243162 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*387C>T (n.*387C>T) c.*650C>T (n.*650C>T) c.152C>T (p.Ser51Leu) c.140C>T (p.Ser47Leu) c.-131C>T (n.-131C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173766G>A | CA138135100 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*388G>A (n.*388G>A) c.*651G>A (n.*651G>A) c.153G>A (p.Ser51=) c.141G>A (p.Ser47=) c.-130G>A (n.-130G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173766G>C | CA450240623 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*388G>C (n.*388G>C) c.*651G>C (n.*651G>C) c.153G>C (p.Ser51=) c.141G>C (p.Ser47=) c.-130G>C (n.-130G>C) | |
6 | g.42173766G= | CA1623929445 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*388G= (n.*388G=) c.*651G= (n.*651G=) c.153G= (p.Ser51=) c.141G= (p.Ser47=) c.-130G= (n.-130G=) | |
6 | g.42173766G>T | CA450240624 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*388G>T (n.*388G>T) c.*651G>T (n.*651G>T) c.153G>T (p.Ser51=) c.141G>T (p.Ser47=) c.-130G>T (n.-130G>T) | gnomAD v4 |
6 | g.42173767G>A | CA3805275 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*389G>A (n.*389G>A) c.*652G>A (n.*652G>A) c.154G>A (p.Ala52Thr) c.142G>A (p.Ala48Thr) c.-129G>A (n.-129G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.42173767G>C | CA364105956 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*389G>C (n.*389G>C) c.*652G>C (n.*652G>C) c.154G>C (p.Ala52Pro) c.142G>C (p.Ala48Pro) c.-129G>C (n.-129G>C) | |
6 | g.42173767G= | CA1623929448 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*389G= (n.*389G=) c.*652G= (n.*652G=) c.154G= (p.Ala52=) c.142G= (p.Ala48=) c.-129G= (n.-129G=) | |
6 | g.42173767G>T | CA364105955 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*389G>T (n.*389G>T) c.*652G>T (n.*652G>T) c.154G>T (p.Ala52Ser) c.142G>T (p.Ala48Ser) c.-129G>T (n.-129G>T) | |
6 | g.42173768C>A | CA364105964 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*390C>A (n.*390C>A) c.*653C>A (n.*653C>A) c.155C>A (p.Ala52Asp) c.143C>A (p.Ala48Asp) c.-128C>A (n.-128C>A) | |
6 | g.42173768C= | CA1623929452 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*390C= (n.*390C=) c.*653C= (n.*653C=) c.155C= (p.Ala52=) c.143C= (p.Ala48=) c.-128C= (n.-128C=) | |
6 | g.42173768C>G | CA364105966 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*390C>G (n.*390C>G) c.*653C>G (n.*653C>G) c.155C>G (p.Ala52Gly) c.143C>G (p.Ala48Gly) c.-128C>G (n.-128C>G) | ClinVar |
6 | g.42173768C>T | CA3805276 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*390C>T (n.*390C>T) c.*653C>T (n.*653C>T) c.155C>T (p.Ala52Val) c.143C>T (p.Ala48Val) c.-128C>T (n.-128C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.42173768_42173769delinsGT | CA2739273020 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*390_*391delinsGT (n.*390_*391delinsGT) c.*653_*654delinsGT (n.*653_*654delinsGT) c.155_156delinsGT (p.Ala52Gly) c.143_144delinsGT (p.Ala48Gly) c.-128_-127delinsGT (n.-128_-127delinsGT) | ClinVar |
6 | g.42173769C>A | CA450240626 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*391C>A (n.*391C>A) c.*654C>A (n.*654C>A) c.156C>A (p.Ala52=) c.144C>A (p.Ala48=) c.-127C>A (n.-127C>A) | |
6 | g.42173769C>G | CA450240628 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*391C>G (n.*391C>G) c.*654C>G (n.*654C>G) c.156C>G (p.Ala52=) c.144C>G (p.Ala48=) c.-127C>G (n.-127C>G) | |
6 | g.42173769C>T | CA450240629 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*391C>T (n.*391C>T) c.*654C>T (n.*654C>T) c.156C>T (p.Ala52=) c.144C>T (p.Ala48=) c.-127C>T (n.-127C>T) | |
6 | g.42173770A>C | CA364105967 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*392A>C (n.*392A>C) c.*655A>C (n.*655A>C) c.157A>C (p.Ser53Arg) c.145A>C (p.Ser49Arg) c.-126A>C (n.-126A>C) | |
6 | g.42173770A>G | CA364105970 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*392A>G (n.*392A>G) c.*655A>G (n.*655A>G) c.157A>G (p.Ser53Gly) c.145A>G (p.Ser49Gly) c.-126A>G (n.-126A>G) | |
6 | g.42173770A>T | CA364105978 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*392A>T (n.*392A>T) c.*655A>T (n.*655A>T) c.157A>T (p.Ser53Cys) c.145A>T (p.Ser49Cys) c.-126A>T (n.-126A>T) | |
6 | g.42173771G>A | CA364105980 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*393G>A (n.*393G>A) c.*656G>A (n.*656G>A) c.158G>A (p.Ser53Asn) c.146G>A (p.Ser49Asn) c.-125G>A (n.-125G>A) | gnomAD v4 |
6 | g.42173771G>C | CA364105983 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*393G>C (n.*393G>C) c.*656G>C (n.*656G>C) c.158G>C (p.Ser53Thr) c.146G>C (p.Ser49Thr) c.-125G>C (n.-125G>C) | |
6 | g.42173771G= | CA1623929455 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*393G= (n.*393G=) c.*656G= (n.*656G=) c.158G= (p.Ser53=) c.146G= (p.Ser49=) c.-125G= (n.-125G=) | |
6 | g.42173771G>T | CA364105987 | CIMIP3,GUCA1A,GUCA1ANB-GUCA1A | c.*393G>T (n.*393G>T) c.*656G>T (n.*656G>T) c.158G>T (p.Ser53Ile) c.146G>T (p.Ser49Ile) c.-125G>T (n.-125G>T) |