Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122284630_122285173delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAACA1397872785CASRc.2445_2988delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser815=)
c.2706_3249delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser902=)
c.2676_3219delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser892=)
c.2193_2736delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser731=)
c.2088_2631delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser696=)
3g.122284636_122285178delCA281596CASRc.2451_2993del (p.Ser818_Val998del)
c.2712_3254del (p.Ser905_Val1085del)
c.2682_3224del (p.Ser895_Val1075del)
c.2199_2741del (p.Ser734_Val914del)
c.2094_2636del (p.Ser699_Val879del)
 ClinVar dbSNP
3g.122284842_122285665delCA2740094578CASRc.2657_*474del (n.[c.2657_*474del;Lys886ThrfsTer5])
c.2918_*474del (n.[c.2918_*474del;Lys973ThrfsTer5])
c.2888_*474del (n.[c.2888_*474del;Lys963ThrfsTer5])
c.2405_*474del (n.[c.2405_*474del;Lys802ThrfsTer5])
c.2300_*474del (n.[c.2300_*474del;Lys767ThrfsTer5])
 ClinVar
3g.122284977C>ACA354161284CASRc.2792C>A (p.Thr931Asn)
c.3053C>A (p.Thr1018Asn)
c.3023C>A (p.Thr1008Asn)
c.2540C>A (p.Thr847Asn)
c.2435C>A (p.Thr812Asn)
3g.122284977C>GCA354161285CASRc.2792C>G (p.Thr931Ser)
c.3053C>G (p.Thr1018Ser)
c.3023C>G (p.Thr1008Ser)
c.2540C>G (p.Thr847Ser)
c.2435C>G (p.Thr812Ser)
 dbSNP
3g.122284977C>TCA354161286CASRc.2792C>T (p.Thr931Ile)
c.3053C>T (p.Thr1018Ile)
c.3023C>T (p.Thr1008Ile)
c.2540C>T (p.Thr847Ile)
c.2435C>T (p.Thr812Ile)
3g.122284978C>ACA435425549CASRc.2793C>A (p.Thr931=)
c.3054C>A (p.Thr1018=)
c.3024C>A (p.Thr1008=)
c.2541C>A (p.Thr847=)
c.2436C>A (p.Thr812=)
3g.122284978C=CA1397873146CASRc.2793C= (p.Thr931=)
c.3054C= (p.Thr1018=)
c.3024C= (p.Thr1008=)
c.2541C= (p.Thr847=)
c.2436C= (p.Thr812=)
3g.122284978C>GCA435425548CASRc.2793C>G (p.Thr931=)
c.3054C>G (p.Thr1018=)
c.3024C>G (p.Thr1008=)
c.2541C>G (p.Thr847=)
c.2436C>G (p.Thr812=)
3g.122284978C>TCA2569911CASRc.2793C>T (p.Thr931=)
c.3054C>T (p.Thr1018=)
c.3024C>T (p.Thr1008=)
c.2541C>T (p.Thr847=)
c.2436C>T (p.Thr812=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284979C>ACA435425550CASRc.2794C>A (p.Arg932=)
c.3055C>A (p.Arg1019=)
c.3025C>A (p.Arg1009=)
c.2542C>A (p.Arg848=)
c.2437C>A (p.Arg813=)
3g.122284979C=CA1397873149CASRc.2794C= (p.Arg932=)
c.3055C= (p.Arg1019=)
c.3025C= (p.Arg1009=)
c.2542C= (p.Arg848=)
c.2437C= (p.Arg813=)
3g.122284979C>GCA354161288CASRc.2794C>G (p.Arg932Gly)
c.3055C>G (p.Arg1019Gly)
c.3025C>G (p.Arg1009Gly)
c.2542C>G (p.Arg848Gly)
c.2437C>G (p.Arg813Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284979C>TCA354161287CASRc.2794C>T (p.Arg932Ter)
c.3055C>T (p.Arg1019Ter)
c.3025C>T (p.Arg1009Ter)
c.2542C>T (p.Arg848Ter)
c.2437C>T (p.Arg813Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284979_122284985delinsCGACACGCA1397873148CASRc.2794_2800delinsCGACACG (p.Arg932=)
c.3055_3061delinsCGACACG (p.Arg1019=)
c.3025_3031delinsCGACACG (p.Arg1009=)
c.2542_2548delinsCGACACG (p.Arg848=)
c.2437_2443delinsCGACACG (p.Arg813=)
3g.122284980G>ACA2569912CASRc.2795G>A (p.Arg932Gln)
c.3056G>A (p.Arg1019Gln)
c.3026G>A (p.Arg1009Gln)
c.2543G>A (p.Arg848Gln)
c.2438G>A (p.Arg813Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284980G>CCA354161289CASRc.2795G>C (p.Arg932Pro)
c.3056G>C (p.Arg1019Pro)
c.3026G>C (p.Arg1009Pro)
c.2543G>C (p.Arg848Pro)
c.2438G>C (p.Arg813Pro)
 dbSNP gnomAD v3 gnomAD v4
3g.122284980G=CA1397873151CASRc.2795G= (p.Arg932=)
c.3056G= (p.Arg1019=)
c.3026G= (p.Arg1009=)
c.2543G= (p.Arg848=)
c.2438G= (p.Arg813=)
3g.122284980G>TCA2569913CASRc.2795G>T (p.Arg932Leu)
c.3056G>T (p.Arg1019Leu)
c.3026G>T (p.Arg1009Leu)
c.2543G>T (p.Arg848Leu)
c.2438G>T (p.Arg813Leu)
 dbSNP ExAC gnomAD v4
3g.122284980_122284985delCA82749451CASRc.2795_2800del (p.Arg932_Glu934delinsGln)
c.3056_3061del (p.Arg1019_Glu1021delinsGln)
c.3026_3031del (p.Arg1009_Glu1011delinsGln)
c.2543_2548del (p.Arg848_Glu850delinsGln)
c.2438_2443del (p.Arg813_Glu815delinsGln)
 dbSNP
3g.122284981A=CA1397873153CASRc.2796A= (p.Arg932=)
c.3057A= (p.Arg1019=)
c.3027A= (p.Arg1009=)
c.2544A= (p.Arg848=)
c.2439A= (p.Arg813=)
3g.122284981A>CCA82749458CASRc.2796A>C (p.Arg932=)
c.3057A>C (p.Arg1019=)
c.3027A>C (p.Arg1009=)
c.2544A>C (p.Arg848=)
c.2439A>C (p.Arg813=)
 dbSNP
3g.122284981A>GCA435425551CASRc.2796A>G (p.Arg932=)
c.3057A>G (p.Arg1019=)
c.3027A>G (p.Arg1009=)
c.2544A>G (p.Arg848=)
c.2439A>G (p.Arg813=)
3g.122284981A>TCA435425552CASRc.2796A>T (p.Arg932=)
c.3057A>T (p.Arg1019=)
c.3027A>T (p.Arg1009=)
c.2544A>T (p.Arg848=)
c.2439A>T (p.Arg813=)
3g.122284981_122284986delCA354161290CASRc.2796_2801del (p.His933_Glu934del)
c.3057_3062del (p.His1020_Glu1021del)
c.3027_3032del (p.His1010_Glu1011del)
c.2544_2549del (p.His849_Glu850del)
c.2439_2444del (p.His814_Glu815del)
3g.122284982C>ACA354161291CASRc.2797C>A (p.His933Asn)
c.3058C>A (p.His1020Asn)
c.3028C>A (p.His1010Asn)
c.2545C>A (p.His849Asn)
c.2440C>A (p.His814Asn)
3g.122284982C=CA1397873155CASRc.2797C= (p.His933=)
c.3058C= (p.His1020=)
c.3028C= (p.His1010=)
c.2545C= (p.His849=)
c.2440C= (p.His814=)
3g.122284982C>GCA354161292CASRc.2797C>G (p.His933Asp)
c.3058C>G (p.His1020Asp)
c.3028C>G (p.His1010Asp)
c.2545C>G (p.His849Asp)
c.2440C>G (p.His814Asp)
3g.122284982C>TCA2569914CASRc.2797C>T (p.His933Tyr)
c.3058C>T (p.His1020Tyr)
c.3028C>T (p.His1010Tyr)
c.2545C>T (p.His849Tyr)
c.2440C>T (p.His814Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284983A=CA1397873156CASRc.2798A= (p.His933=)
c.3059A= (p.His1020=)
c.3029A= (p.His1010=)
c.2546A= (p.His849=)
c.2441A= (p.His814=)
3g.122284983A>CCA2569915CASRc.2798A>C (p.His933Pro)
c.3059A>C (p.His1020Pro)
c.3029A>C (p.His1010Pro)
c.2546A>C (p.His849Pro)
c.2441A>C (p.His814Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284983A>GCA354161293CASRc.2798A>G (p.His933Arg)
c.3059A>G (p.His1020Arg)
c.3029A>G (p.His1010Arg)
c.2546A>G (p.His849Arg)
c.2441A>G (p.His814Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284983A>TCA354161294CASRc.2798A>T (p.His933Leu)
c.3059A>T (p.His1020Leu)
c.3029A>T (p.His1010Leu)
c.2546A>T (p.His849Leu)
c.2441A>T (p.His814Leu)
3g.122284983dupCA2667224936CASRc.2798dup (p.His933GlnfsTer?)
c.3059dup (p.His1020GlnfsTer?)
c.3029dup (p.His1010GlnfsTer?)
c.2546dup (p.His849GlnfsTer?)
c.2441dup (p.His814GlnfsTer?)
 gnomAD v4
3g.122284984C>ACA354161295CASRc.2799C>A (p.His933Gln)
c.3060C>A (p.His1020Gln)
c.3030C>A (p.His1010Gln)
c.2547C>A (p.His849Gln)
c.2442C>A (p.His814Gln)
3g.122284984C=CA1397873160CASRc.2799C= (p.His933=)
c.3060C= (p.His1020=)
c.3030C= (p.His1010=)
c.2547C= (p.His849=)
c.2442C= (p.His814=)
3g.122284984C>GCA2569916CASRc.2799C>G (p.His933Gln)
c.3060C>G (p.His1020Gln)
c.3030C>G (p.His1010Gln)
c.2547C>G (p.His849Gln)
c.2442C>G (p.His814Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284984C>TCA2569917CASRc.2799C>T (p.His933=)
c.3060C>T (p.His1020=)
c.3030C>T (p.His1010=)
c.2547C>T (p.His849=)
c.2442C>T (p.His814=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284984_122284985delinsACCA2573136468CASRc.2799_2800delinsAC (p.His933_Glu934delinsGlnGln)
c.3060_3061delinsAC (p.His1020_Glu1021delinsGlnGln)
c.3030_3031delinsAC (p.His1010_Glu1011delinsGlnGln)
c.2547_2548delinsAC (p.His849_Glu850delinsGlnGln)
c.2442_2443delinsAC (p.His814_Glu815delinsGlnGln)
 ClinVar dbSNP
3g.122284984_122284985delinsCGCA1397873159CASRc.2799_2800delinsCG (p.His933=)
c.3060_3061delinsCG (p.His1020=)
c.3030_3031delinsCG (p.His1010=)
c.2547_2548delinsCG (p.His849=)
c.2442_2443delinsCG (p.His814=)
3g.122284984_122284985delinsGCCA82749469CASRc.2799_2800delinsGC (p.His933_Glu934delinsGlnGln)
c.3060_3061delinsGC (p.His1020_Glu1021delinsGlnGln)
c.3030_3031delinsGC (p.His1010_Glu1011delinsGlnGln)
c.2547_2548delinsGC (p.His849_Glu850delinsGlnGln)
c.2442_2443delinsGC (p.His814_Glu815delinsGlnGln)
 dbSNP
3g.122284985G>ACA354161296CASRc.2800G>A (p.Glu934Lys)
c.3061G>A (p.Glu1021Lys)
c.3031G>A (p.Glu1011Lys)
c.2548G>A (p.Glu850Lys)
c.2443G>A (p.Glu815Lys)
 dbSNP
3g.122284985G>CCA179846CASRc.2800G>C (p.Glu934Gln)
c.3061G>C (p.Glu1021Gln)
c.3031G>C (p.Glu1011Gln)
c.2548G>C (p.Glu850Gln)
c.2443G>C (p.Glu815Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284985G=CA10582124CASRc.2800G= (p.Glu934=)
c.3061G= (p.Glu1021=)
c.3031G= (p.Glu1011=)
c.2548G= (p.Glu850=)
c.2443G= (p.Glu815=)
3g.122284985G>TCA354161297CASRc.2800G>T (p.Glu934Ter)
c.3061G>T (p.Glu1021Ter)
c.3031G>T (p.Glu1011Ter)
c.2548G>T (p.Glu850Ter)
c.2443G>T (p.Glu815Ter)
3g.122284985_122284986insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACCCA1052945246CASRc.2800_2801insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu934AlafsTer14)
c.3061_3062insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu1021AlafsTer14)
c.3031_3032insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu1011AlafsTer14)
c.3031_3032insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Gln1011ProfsTer14)
c.3061_3062insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Gln1021ProfsTer14)
c.2548_2549insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu850AlafsTer14)
c.2443_2444insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu815AlafsTer14)
 gnomAD v3 gnomAD v4
3g.122284986A>CCA354161298CASRc.2801A>C (p.Glu934Ala)
c.3062A>C (p.Glu1021Ala)
c.3032A>C (p.Glu1011Ala)
c.3032A>C (p.Gln1011Pro)
c.3062A>C (p.Gln1021Pro)
c.2549A>C (p.Glu850Ala)
c.2444A>C (p.Glu815Ala)
3g.122284986A>GCA354161299CASRc.2801A>G (p.Glu934Gly)
c.3062A>G (p.Glu1021Gly)
c.3032A>G (p.Glu1011Gly)
c.3032A>G (p.Gln1011Arg)
c.3062A>G (p.Gln1021Arg)
c.2549A>G (p.Glu850Gly)
c.2444A>G (p.Glu815Gly)
3g.122284986A>TCA354161300CASRc.2801A>T (p.Glu934Val)
c.3062A>T (p.Glu1021Val)
c.3032A>T (p.Glu1011Val)
c.3032A>T (p.Gln1011Leu)
c.3062A>T (p.Gln1021Leu)
c.2549A>T (p.Glu850Val)
c.2444A>T (p.Glu815Val)
3g.122284987G>ACA435425553CASRc.2802G>A (p.Glu934=)
c.3063G>A (p.Glu1021=)
c.3033G>A (p.Glu1011=)
c.3033G>A (p.Gln1011=)
c.3063G>A (p.Gln1021=)
c.2550G>A (p.Glu850=)
c.2445G>A (p.Glu815=)
 ClinVar
3g.122284987G>CCA354161301CASRc.2802G>C (p.Glu934Asp)
c.3063G>C (p.Glu1021Asp)
c.3033G>C (p.Glu1011Asp)
c.3033G>C (p.Gln1011His)
c.3063G>C (p.Gln1021His)
c.2550G>C (p.Glu850Asp)
c.2445G>C (p.Glu815Asp)
3g.122284987G>TCA354161302CASRc.2802G>T (p.Glu934Asp)
c.3063G>T (p.Glu1021Asp)
c.3033G>T (p.Glu1011Asp)
c.3033G>T (p.Gln1011His)
c.3063G>T (p.Gln1021His)
c.2550G>T (p.Glu850Asp)
c.2445G>T (p.Glu815Asp)
3g.122284988C>ACA2569918CASRc.2803C>A (p.Pro935Thr)
c.3064C>A (p.Pro1022Thr)
c.3034C>A (p.Pro1012Thr)
c.2551C>A (p.Pro851Thr)
c.2446C>A (p.Pro816Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284988C=CA1397873163CASRc.2803C= (p.Pro935=)
c.3064C= (p.Pro1022=)
c.3034C= (p.Pro1012=)
c.2551C= (p.Pro851=)
c.2446C= (p.Pro816=)
3g.122284988C>GCA354161303CASRc.2803C>G (p.Pro935Ala)
c.3064C>G (p.Pro1022Ala)
c.3034C>G (p.Pro1012Ala)
c.2551C>G (p.Pro851Ala)
c.2446C>G (p.Pro816Ala)
 ClinVar
3g.122284988C>TCA354161304CASRc.2803C>T (p.Pro935Ser)
c.3064C>T (p.Pro1022Ser)
c.3034C>T (p.Pro1012Ser)
c.2551C>T (p.Pro851Ser)
c.2446C>T (p.Pro816Ser)
3g.122284989C>ACA354161306CASRc.2804C>A (p.Pro935Gln)
c.3065C>A (p.Pro1022Gln)
c.3035C>A (p.Pro1012Gln)
c.2552C>A (p.Pro851Gln)
c.2447C>A (p.Pro816Gln)
 ClinVar dbSNP
3g.122284989C=CA1397873165CASRc.2804C= (p.Pro935=)
c.3065C= (p.Pro1022=)
c.3035C= (p.Pro1012=)
c.2552C= (p.Pro851=)
c.2447C= (p.Pro816=)
3g.122284989C>GCA354161307CASRc.2804C>G (p.Pro935Arg)
c.3065C>G (p.Pro1022Arg)
c.3035C>G (p.Pro1012Arg)
c.2552C>G (p.Pro851Arg)
c.2447C>G (p.Pro816Arg)
3g.122284989C>TCA354161305CASRc.2804C>T (p.Pro935Leu)
c.3065C>T (p.Pro1022Leu)
c.3035C>T (p.Pro1012Leu)
c.2552C>T (p.Pro851Leu)
c.2447C>T (p.Pro816Leu)
3g.122284990A=CA1397873167CASRc.2805A= (p.Pro935=)
c.3066A= (p.Pro1022=)
c.3036A= (p.Pro1012=)
c.2553A= (p.Pro851=)
c.2448A= (p.Pro816=)
3g.122284990A>CCA435425554CASRc.2805A>C (p.Pro935=)
c.3066A>C (p.Pro1022=)
c.3036A>C (p.Pro1012=)
c.2553A>C (p.Pro851=)
c.2448A>C (p.Pro816=)
3g.122284990A>GCA435425555CASRc.2805A>G (p.Pro935=)
c.3066A>G (p.Pro1022=)
c.3036A>G (p.Pro1012=)
c.2553A>G (p.Pro851=)
c.2448A>G (p.Pro816=)
 ClinVar dbSNP gnomAD v2
3g.122284990A>TCA435425556CASRc.2805A>T (p.Pro935=)
c.3066A>T (p.Pro1022=)
c.3036A>T (p.Pro1012=)
c.2553A>T (p.Pro851=)
c.2448A>T (p.Pro816=)
3g.122284991T>ACA354161308CASRc.2806T>A (p.Leu936Ile)
c.3067T>A (p.Leu1023Ile)
c.3037T>A (p.Leu1013Ile)
c.2554T>A (p.Leu852Ile)
c.2449T>A (p.Leu817Ile)
3g.122284991T>CCA435425557CASRc.2806T>C (p.Leu936=)
c.3067T>C (p.Leu1023=)
c.3037T>C (p.Leu1013=)
c.2554T>C (p.Leu852=)
c.2449T>C (p.Leu817=)
3g.122284991T>GCA354161309CASRc.2806T>G (p.Leu936Val)
c.3067T>G (p.Leu1023Val)
c.3037T>G (p.Leu1013Val)
c.2554T>G (p.Leu852Val)
c.2449T>G (p.Leu817Val)
3g.122284992T>ACA354161310CASRc.2807T>A (p.Leu936Ter)
c.3068T>A (p.Leu1023Ter)
c.3038T>A (p.Leu1013Ter)
c.2555T>A (p.Leu852Ter)
c.2450T>A (p.Leu817Ter)
3g.122284992T>CCA2569919CASRc.2807T>C (p.Leu936Ser)
c.3068T>C (p.Leu1023Ser)
c.3038T>C (p.Leu1013Ser)
c.2555T>C (p.Leu852Ser)
c.2450T>C (p.Leu817Ser)
 dbSNP ExAC gnomAD v2
3g.122284992T>GCA354161311CASRc.2807T>G (p.Leu936Ter)
c.3068T>G (p.Leu1023Ter)
c.3038T>G (p.Leu1013Ter)
c.2555T>G (p.Leu852Ter)
c.2450T>G (p.Leu817Ter)
3g.122284992T=CA1397873168CASRc.2807T= (p.Leu936=)
c.3068T= (p.Leu1023=)
c.3038T= (p.Leu1013=)
c.2555T= (p.Leu852=)
c.2450T= (p.Leu817=)
3g.122284993A>CCA354161312CASRc.2808A>C (p.Leu936Phe)
c.3069A>C (p.Leu1023Phe)
c.3039A>C (p.Leu1013Phe)
c.2556A>C (p.Leu852Phe)
c.2451A>C (p.Leu817Phe)
3g.122284993A>GCA435425558CASRc.2808A>G (p.Leu936=)
c.3069A>G (p.Leu1023=)
c.3039A>G (p.Leu1013=)
c.2556A>G (p.Leu852=)
c.2451A>G (p.Leu817=)
3g.122284993A>TCA354161313CASRc.2808A>T (p.Leu936Phe)
c.3069A>T (p.Leu1023Phe)
c.3039A>T (p.Leu1013Phe)
c.2556A>T (p.Leu852Phe)
c.2451A>T (p.Leu817Phe)
3g.122284994C>ACA2569920CASRc.2809C>A (p.Leu937Ile)
c.3070C>A (p.Leu1024Ile)
c.3040C>A (p.Leu1014Ile)
c.2557C>A (p.Leu853Ile)
c.2452C>A (p.Leu818Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284994C=CA1397873170CASRc.2809C= (p.Leu937=)
c.3070C= (p.Leu1024=)
c.3040C= (p.Leu1014=)
c.2557C= (p.Leu853=)
c.2452C= (p.Leu818=)
3g.122284994C>GCA354161314CASRc.2809C>G (p.Leu937Val)
c.3070C>G (p.Leu1024Val)
c.3040C>G (p.Leu1014Val)
c.2557C>G (p.Leu853Val)
c.2452C>G (p.Leu818Val)
3g.122284994C>TCA82749487CASRc.2809C>T (p.Leu937Phe)
c.3070C>T (p.Leu1024Phe)
c.3040C>T (p.Leu1014Phe)
c.2557C>T (p.Leu853Phe)
c.2452C>T (p.Leu818Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122284995T>ACA354161315CASRc.2810T>A (p.Leu937His)
c.3071T>A (p.Leu1024His)
c.3041T>A (p.Leu1014His)
c.2558T>A (p.Leu853His)
c.2453T>A (p.Leu818His)
3g.122284995T>CCA354161316CASRc.2810T>C (p.Leu937Pro)
c.3071T>C (p.Leu1024Pro)
c.3041T>C (p.Leu1014Pro)
c.2558T>C (p.Leu853Pro)
c.2453T>C (p.Leu818Pro)
 ClinVar
3g.122284995T>GCA354161317CASRc.2810T>G (p.Leu937Arg)
c.3071T>G (p.Leu1024Arg)
c.3041T>G (p.Leu1014Arg)
c.2558T>G (p.Leu853Arg)
c.2453T>G (p.Leu818Arg)
3g.122284995_122284996delinsTCCA1397873171CASRc.2810_2811delinsTC (p.Leu937=)
c.3071_3072delinsTC (p.Leu1024=)
c.3041_3042delinsTC (p.Leu1014=)
c.2558_2559delinsTC (p.Leu853=)
c.2453_2454delinsTC (p.Leu818=)
3g.122284996C>ACA435425559CASRc.2811C>A (p.Leu937=)
c.3072C>A (p.Leu1024=)
c.3042C>A (p.Leu1014=)
c.2559C>A (p.Leu853=)
c.2454C>A (p.Leu818=)
 ClinVar dbSNP
3g.122284996C=CA1397873176CASRc.2811C= (p.Leu937=)
c.3072C= (p.Leu1024=)
c.3042C= (p.Leu1014=)
c.2559C= (p.Leu853=)
c.2454C= (p.Leu818=)
3g.122284996C>GCA435425560CASRc.2811C>G (p.Leu937=)
c.3072C>G (p.Leu1024=)
c.3042C>G (p.Leu1014=)
c.2559C>G (p.Leu853=)
c.2454C>G (p.Leu818=)
 ClinVar dbSNP
3g.122284996C>TCA435425561CASRc.2811C>T (p.Leu937=)
c.3072C>T (p.Leu1024=)
c.3042C>T (p.Leu1014=)
c.2559C>T (p.Leu853=)
c.2454C>T (p.Leu818=)
 ClinVar dbSNP gnomAD v4
3g.122284998delCA916082597CASRc.2813del (p.Pro938ArgfsTer9)
c.3074del (p.Pro1025ArgfsTer9)
c.3044del (p.Pro1015ArgfsTer9)
c.2561del (p.Pro854ArgfsTer9)
c.2456del (p.Pro819ArgfsTer9)
 ClinVar dbSNP gnomAD v4
3g.122284997C>ACA354161320CASRc.2812C>A (p.Pro938Thr)
c.3073C>A (p.Pro1025Thr)
c.3043C>A (p.Pro1015Thr)
c.2560C>A (p.Pro854Thr)
c.2455C>A (p.Pro819Thr)
3g.122284997C>GCA354161319CASRc.2812C>G (p.Pro938Ala)
c.3073C>G (p.Pro1025Ala)
c.3043C>G (p.Pro1015Ala)
c.2560C>G (p.Pro854Ala)
c.2455C>G (p.Pro819Ala)
3g.122284997C>TCA354161318CASRc.2812C>T (p.Pro938Ser)
c.3073C>T (p.Pro1025Ser)
c.3043C>T (p.Pro1015Ser)
c.2560C>T (p.Pro854Ser)
c.2455C>T (p.Pro819Ser)
3g.122284998C>ACA354161321CASRc.2813C>A (p.Pro938Gln)
c.3074C>A (p.Pro1025Gln)
c.3044C>A (p.Pro1015Gln)
c.2561C>A (p.Pro854Gln)
c.2456C>A (p.Pro819Gln)
3g.122284998C=CA1397873177CASRc.2813C= (p.Pro938=)
c.3074C= (p.Pro1025=)
c.3044C= (p.Pro1015=)
c.2561C= (p.Pro854=)
c.2456C= (p.Pro819=)
3g.122284998C>GCA354161322CASRc.2813C>G (p.Pro938Arg)
c.3074C>G (p.Pro1025Arg)
c.3044C>G (p.Pro1015Arg)
c.2561C>G (p.Pro854Arg)
c.2456C>G (p.Pro819Arg)
3g.122284998C>TCA2569921CASRc.2813C>T (p.Pro938Leu)
c.3074C>T (p.Pro1025Leu)
c.3044C>T (p.Pro1015Leu)
c.2561C>T (p.Pro854Leu)
c.2456C>T (p.Pro819Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122284999G>ACA2569922CASRc.2814G>A (p.Pro938=)
c.3075G>A (p.Pro1025=)
c.3045G>A (p.Pro1015=)
c.2562G>A (p.Pro854=)
c.2457G>A (p.Pro819=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284999G>CCA435425563CASRc.2814G>C (p.Pro938=)
c.3075G>C (p.Pro1025=)
c.3045G>C (p.Pro1015=)
c.2562G>C (p.Pro854=)
c.2457G>C (p.Pro819=)
3g.122284999G=CA1397873179CASRc.2814G= (p.Pro938=)
c.3075G= (p.Pro1025=)
c.3045G= (p.Pro1015=)
c.2562G= (p.Pro854=)
c.2457G= (p.Pro819=)
3g.122284999G>TCA435425562CASRc.2814G>T (p.Pro938=)
c.3075G>T (p.Pro1025=)
c.3045G>T (p.Pro1015=)
c.2562G>T (p.Pro854=)
c.2457G>T (p.Pro819=)
 ClinVar
3g.122285000C>ACA354161323CASRc.2815C>A (p.Leu939Met)
c.3076C>A (p.Leu1026Met)
c.3046C>A (p.Leu1016Met)
c.2563C>A (p.Leu855Met)
c.2458C>A (p.Leu820Met)
3g.122285000C>GCA354161324CASRc.2815C>G (p.Leu939Val)
c.3076C>G (p.Leu1026Val)
c.3046C>G (p.Leu1016Val)
c.2563C>G (p.Leu855Val)
c.2458C>G (p.Leu820Val)
3g.122285000C>TCA435425564CASRc.2815C>T (p.Leu939=)
c.3076C>T (p.Leu1026=)
c.3046C>T (p.Leu1016=)
c.2563C>T (p.Leu855=)
c.2458C>T (p.Leu820=)
3g.122285001T>ACA354161325CASRc.2816T>A (p.Leu939Gln)
c.3077T>A (p.Leu1026Gln)
c.3047T>A (p.Leu1016Gln)
c.2564T>A (p.Leu855Gln)
c.2459T>A (p.Leu820Gln)
 gnomAD v4
3g.122285001T>CCA2569923CASRc.2816T>C (p.Leu939Pro)
c.3077T>C (p.Leu1026Pro)
c.3047T>C (p.Leu1016Pro)
c.2564T>C (p.Leu855Pro)
c.2459T>C (p.Leu820Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285001T>GCA354161326CASRc.2816T>G (p.Leu939Arg)
c.3077T>G (p.Leu1026Arg)
c.3047T>G (p.Leu1016Arg)
c.2564T>G (p.Leu855Arg)
c.2459T>G (p.Leu820Arg)
3g.122285001T=CA1397873180CASRc.2816T= (p.Leu939=)
c.3077T= (p.Leu1026=)
c.3047T= (p.Leu1016=)
c.2564T= (p.Leu855=)
c.2459T= (p.Leu820=)
3g.122285002G>ACA435425565CASRc.2817G>A (p.Leu939=)
c.3078G>A (p.Leu1026=)
c.3048G>A (p.Leu1016=)
c.2565G>A (p.Leu855=)
c.2460G>A (p.Leu820=)
 ClinVar dbSNP
3g.122285002G>CCA435425566CASRc.2817G>C (p.Leu939=)
c.3078G>C (p.Leu1026=)
c.3048G>C (p.Leu1016=)
c.2565G>C (p.Leu855=)
c.2460G>C (p.Leu820=)
3g.122285002G=CA1397873182CASRc.2817G= (p.Leu939=)
c.3078G= (p.Leu1026=)
c.3048G= (p.Leu1016=)
c.2565G= (p.Leu855=)
c.2460G= (p.Leu820=)
3g.122285002G>TCA435425567CASRc.2817G>T (p.Leu939=)
c.3078G>T (p.Leu1026=)
c.3048G>T (p.Leu1016=)
c.2565G>T (p.Leu855=)
c.2460G>T (p.Leu820=)
 ClinVar
3g.122285003C>ACA354161327CASRc.2818C>A (p.Gln940Lys)
c.3079C>A (p.Gln1027Lys)
c.3049C>A (p.Gln1017Lys)
c.2566C>A (p.Gln856Lys)
c.2461C>A (p.Gln821Lys)
3g.122285003C>GCA354161328CASRc.2818C>G (p.Gln940Glu)
c.3079C>G (p.Gln1027Glu)
c.3049C>G (p.Gln1017Glu)
c.2566C>G (p.Gln856Glu)
c.2461C>G (p.Gln821Glu)
3g.122285003C>TCA354161329CASRc.2818C>T (p.Gln940Ter)
c.3079C>T (p.Gln1027Ter)
c.3049C>T (p.Gln1017Ter)
c.2566C>T (p.Gln856Ter)
c.2461C>T (p.Gln821Ter)
3g.122285004A=CA1397873184CASRc.2819A= (p.Gln940=)
c.3080A= (p.Gln1027=)
c.3050A= (p.Gln1017=)
c.2567A= (p.Gln856=)
c.2462A= (p.Gln821=)
3g.122285004A>CCA354161331CASRc.2819A>C (p.Gln940Pro)
c.3080A>C (p.Gln1027Pro)
c.3050A>C (p.Gln1017Pro)
c.2567A>C (p.Gln856Pro)
c.2462A>C (p.Gln821Pro)
 ClinVar dbSNP gnomAD v4
3g.122285004A>GCA2569924CASRc.2819A>G (p.Gln940Arg)
c.3080A>G (p.Gln1027Arg)
c.3050A>G (p.Gln1017Arg)
c.2567A>G (p.Gln856Arg)
c.2462A>G (p.Gln821Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285004A>TCA354161330CASRc.2819A>T (p.Gln940Leu)
c.3080A>T (p.Gln1027Leu)
c.3050A>T (p.Gln1017Leu)
c.2567A>T (p.Gln856Leu)
c.2462A>T (p.Gln821Leu)
 COSMIC
3g.122285005G>ACA435425568CASRc.2820G>A (p.Gln940=)
c.3081G>A (p.Gln1027=)
c.3051G>A (p.Gln1017=)
c.2568G>A (p.Gln856=)
c.2463G>A (p.Gln821=)
3g.122285005G>CCA354161332CASRc.2820G>C (p.Gln940His)
c.3081G>C (p.Gln1027His)
c.3051G>C (p.Gln1017His)
c.2568G>C (p.Gln856His)
c.2463G>C (p.Gln821His)
3g.122285005G>TCA354161333CASRc.2820G>T (p.Gln940His)
c.3081G>T (p.Gln1027His)
c.3051G>T (p.Gln1017His)
c.2568G>T (p.Gln856His)
c.2463G>T (p.Gln821His)
3g.122285006T>ACA354161334CASRc.2821T>A (p.Cys941Ser)
c.3082T>A (p.Cys1028Ser)
c.3052T>A (p.Cys1018Ser)
c.2569T>A (p.Cys857Ser)
c.2464T>A (p.Cys822Ser)
3g.122285006T>CCA354161336CASRc.2821T>C (p.Cys941Arg)
c.3082T>C (p.Cys1028Arg)
c.3052T>C (p.Cys1018Arg)
c.2569T>C (p.Cys857Arg)
c.2464T>C (p.Cys822Arg)
 ClinVar gnomAD v4
3g.122285006T>GCA354161335CASRc.2821T>G (p.Cys941Gly)
c.3082T>G (p.Cys1028Gly)
c.3052T>G (p.Cys1018Gly)
c.2569T>G (p.Cys857Gly)
c.2464T>G (p.Cys822Gly)
 ClinVar
3g.122285007G>ACA354161337CASRc.2822G>A (p.Cys941Tyr)
c.3083G>A (p.Cys1028Tyr)
c.3053G>A (p.Cys1018Tyr)
c.2570G>A (p.Cys857Tyr)
c.2465G>A (p.Cys822Tyr)
3g.122285007G>CCA354161339CASRc.2822G>C (p.Cys941Ser)
c.3083G>C (p.Cys1028Ser)
c.3053G>C (p.Cys1018Ser)
c.2570G>C (p.Cys857Ser)
c.2465G>C (p.Cys822Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.122285007G=CA1397873185CASRc.2822G= (p.Cys941=)
c.3083G= (p.Cys1028=)
c.3053G= (p.Cys1018=)
c.2570G= (p.Cys857=)
c.2465G= (p.Cys822=)
3g.122285007G>TCA354161338CASRc.2822G>T (p.Cys941Phe)
c.3083G>T (p.Cys1028Phe)
c.3053G>T (p.Cys1018Phe)
c.2570G>T (p.Cys857Phe)
c.2465G>T (p.Cys822Phe)
3g.122285008C>ACA354161340CASRc.2823C>A (p.Cys941Ter)
c.3084C>A (p.Cys1028Ter)
c.3054C>A (p.Cys1018Ter)
c.2571C>A (p.Cys857Ter)
c.2466C>A (p.Cys822Ter)
3g.122285008C=CA1397873187CASRc.2823C= (p.Cys941=)
c.3084C= (p.Cys1028=)
c.3054C= (p.Cys1018=)
c.2571C= (p.Cys857=)
c.2466C= (p.Cys822=)
3g.122285008C>GCA354161341CASRc.2823C>G (p.Cys941Trp)
c.3084C>G (p.Cys1028Trp)
c.3054C>G (p.Cys1018Trp)
c.2571C>G (p.Cys857Trp)
c.2466C>G (p.Cys822Trp)
3g.122285008C>TCA2569925CASRc.2823C>T (p.Cys941=)
c.3084C>T (p.Cys1028=)
c.3054C>T (p.Cys1018=)
c.2571C>T (p.Cys857=)
c.2466C>T (p.Cys822=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122285009G>ACA16611138CASRc.2824G>A (p.Gly942Arg)
c.3085G>A (p.Gly1029Arg)
c.3055G>A (p.Gly1019Arg)
c.2572G>A (p.Gly858Arg)
c.2467G>A (p.Gly823Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122285009G>CCA354161342CASRc.2824G>C (p.Gly942Arg)
c.3085G>C (p.Gly1029Arg)
c.3055G>C (p.Gly1019Arg)
c.2572G>C (p.Gly858Arg)
c.2467G>C (p.Gly823Arg)
3g.122285009G=CA1397873189CASRc.2824G= (p.Gly942=)
c.3085G= (p.Gly1029=)
c.3055G= (p.Gly1019=)
c.2572G= (p.Gly858=)
c.2467G= (p.Gly823=)
3g.122285009G>TCA354161343CASRc.2824G>T (p.Gly942Trp)
c.3085G>T (p.Gly1029Trp)
c.3055G>T (p.Gly1019Trp)
c.2572G>T (p.Gly858Trp)
c.2467G>T (p.Gly823Trp)
3g.122285012delCA2580068670CASRc.2827del (p.Glu943LysfsTer4)
c.3088del (p.Glu1030LysfsTer4)
c.3058del (p.Glu1020LysfsTer4)
c.2575del (p.Glu859LysfsTer4)
c.2470del (p.Glu824LysfsTer4)
 ClinVar
3g.122285010G>ACA354161344CASRc.2825G>A (p.Gly942Glu)
c.3086G>A (p.Gly1029Glu)
c.3056G>A (p.Gly1019Glu)
c.2573G>A (p.Gly858Glu)
c.2468G>A (p.Gly823Glu)
 ClinVar
3g.122285010G>CCA354161345CASRc.2825G>C (p.Gly942Ala)
c.3086G>C (p.Gly1029Ala)
c.3056G>C (p.Gly1019Ala)
c.2573G>C (p.Gly858Ala)
c.2468G>C (p.Gly823Ala)
3g.122285010G>TCA354161346CASRc.2825G>T (p.Gly942Val)
c.3086G>T (p.Gly1029Val)
c.3056G>T (p.Gly1019Val)
c.2573G>T (p.Gly858Val)
c.2468G>T (p.Gly823Val)
3g.122285011G>ACA435425569CASRc.2826G>A (p.Gly942=)
c.3087G>A (p.Gly1029=)
c.3057G>A (p.Gly1019=)
c.2574G>A (p.Gly858=)
c.2469G>A (p.Gly823=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122285011G>CCA435425570CASRc.2826G>C (p.Gly942=)
c.3087G>C (p.Gly1029=)
c.3057G>C (p.Gly1019=)
c.2574G>C (p.Gly858=)
c.2469G>C (p.Gly823=)
 ClinVar
3g.122285011G=CA1397873191CASRc.2826G= (p.Gly942=)
c.3087G= (p.Gly1029=)
c.3057G= (p.Gly1019=)
c.2574G= (p.Gly858=)
c.2469G= (p.Gly823=)
3g.122285011G>TCA435425571CASRc.2826G>T (p.Gly942=)
c.3087G>T (p.Gly1029=)
c.3057G>T (p.Gly1019=)
c.2574G>T (p.Gly858=)
c.2469G>T (p.Gly823=)
3g.122285012G>ACA354161347CASRc.2827G>A (p.Glu943Lys)
c.3088G>A (p.Glu1030Lys)
c.3058G>A (p.Glu1020Lys)
c.2575G>A (p.Glu859Lys)
c.2470G>A (p.Glu824Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122285012G>CCA16611098CASRc.2827G>C (p.Glu943Gln)
c.3088G>C (p.Glu1030Gln)
c.3058G>C (p.Glu1020Gln)
c.2575G>C (p.Glu859Gln)
c.2470G>C (p.Glu824Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122285012G=CA1397873195CASRc.2827G= (p.Glu943=)
c.3088G= (p.Glu1030=)
c.3058G= (p.Glu1020=)
c.2575G= (p.Glu859=)
c.2470G= (p.Glu824=)
3g.122285012G>TCA354161348CASRc.2827G>T (p.Glu943Ter)
c.3088G>T (p.Glu1030Ter)
c.3058G>T (p.Glu1020Ter)
c.2575G>T (p.Glu859Ter)
c.2470G>T (p.Glu824Ter)
 dbSNP
3g.122285013A>CCA354161349CASRc.2828A>C (p.Glu943Ala)
c.3089A>C (p.Glu1030Ala)
c.3059A>C (p.Glu1020Ala)
c.2576A>C (p.Glu859Ala)
c.2471A>C (p.Glu824Ala)
3g.122285013A>GCA354161351CASRc.2828A>G (p.Glu943Gly)
c.3089A>G (p.Glu1030Gly)
c.3059A>G (p.Glu1020Gly)
c.2576A>G (p.Glu859Gly)
c.2471A>G (p.Glu824Gly)
3g.122285013A>TCA354161350CASRc.2828A>T (p.Glu943Val)
c.3089A>T (p.Glu1030Val)
c.3059A>T (p.Glu1020Val)
c.2576A>T (p.Glu859Val)
c.2471A>T (p.Glu824Val)
3g.122285014A>CCA354161352CASRc.2829A>C (p.Glu943Asp)
c.3090A>C (p.Glu1030Asp)
c.3060A>C (p.Glu1020Asp)
c.2577A>C (p.Glu859Asp)
c.2472A>C (p.Glu824Asp)
3g.122285014A>GCA435425572CASRc.2829A>G (p.Glu943=)
c.3090A>G (p.Glu1030=)
c.3060A>G (p.Glu1020=)
c.2577A>G (p.Glu859=)
c.2472A>G (p.Glu824=)
3g.122285014A>TCA354161353CASRc.2829A>T (p.Glu943Asp)
c.3090A>T (p.Glu1030Asp)
c.3060A>T (p.Glu1020Asp)
c.2577A>T (p.Glu859Asp)
c.2472A>T (p.Glu824Asp)
3g.122285015A>CCA354161354CASRc.2830A>C (p.Thr944Pro)
c.3091A>C (p.Thr1031Pro)
c.3061A>C (p.Thr1021Pro)
c.2578A>C (p.Thr860Pro)
c.2473A>C (p.Thr825Pro)
3g.122285015A>GCA354161355CASRc.2830A>G (p.Thr944Ala)
c.3091A>G (p.Thr1031Ala)
c.3061A>G (p.Thr1021Ala)
c.2578A>G (p.Thr860Ala)
c.2473A>G (p.Thr825Ala)
 gnomAD v4
3g.122285015A>TCA354161356CASRc.2830A>T (p.Thr944Ser)
c.3091A>T (p.Thr1031Ser)
c.3061A>T (p.Thr1021Ser)
c.2578A>T (p.Thr860Ser)
c.2473A>T (p.Thr825Ser)
3g.122285016C>ACA2569926CASRc.2831C>A (p.Thr944Lys)
c.3092C>A (p.Thr1031Lys)
c.3062C>A (p.Thr1021Lys)
c.2579C>A (p.Thr860Lys)
c.2474C>A (p.Thr825Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122285016C=CA1397873198CASRc.2831C= (p.Thr944=)
c.3092C= (p.Thr1031=)
c.3062C= (p.Thr1021=)
c.2579C= (p.Thr860=)
c.2474C= (p.Thr825=)
3g.122285016C>GCA82749519CASRc.2831C>G (p.Thr944Arg)
c.3092C>G (p.Thr1031Arg)
c.3062C>G (p.Thr1021Arg)
c.2579C>G (p.Thr860Arg)
c.2474C>G (p.Thr825Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122285016C>TCA354161357CASRc.2831C>T (p.Thr944Met)
c.3092C>T (p.Thr1031Met)
c.3062C>T (p.Thr1021Met)
c.2579C>T (p.Thr860Met)
c.2474C>T (p.Thr825Met)
 ClinVar dbSNP gnomAD v4
3g.122285017G>ACA213595CASRc.2832G>A (p.Thr944=)
c.3093G>A (p.Thr1031=)
c.3063G>A (p.Thr1021=)
c.2580G>A (p.Thr860=)
c.2475G>A (p.Thr825=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285017G>CCA82749525CASRc.2832G>C (p.Thr944=)
c.3093G>C (p.Thr1031=)
c.3063G>C (p.Thr1021=)
c.2580G>C (p.Thr860=)
c.2475G>C (p.Thr825=)
 ClinVar dbSNP gnomAD v4
3g.122285017G=CA1397873201CASRc.2832G= (p.Thr944=)
c.3093G= (p.Thr1031=)
c.3063G= (p.Thr1021=)
c.2580G= (p.Thr860=)
c.2475G= (p.Thr825=)
3g.122285017G>TCA435425573CASRc.2832G>T (p.Thr944=)
c.3093G>T (p.Thr1031=)
c.3063G>T (p.Thr1021=)
c.2580G>T (p.Thr860=)
c.2475G>T (p.Thr825=)
3g.122285018G>ACA354161360CASRc.2833G>A (p.Asp945Asn)
c.3094G>A (p.Asp1032Asn)
c.3064G>A (p.Asp1022Asn)
c.2581G>A (p.Asp861Asn)
c.2476G>A (p.Asp826Asn)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122285018G>CCA354161359CASRc.2833G>C (p.Asp945His)
c.3094G>C (p.Asp1032His)
c.3064G>C (p.Asp1022His)
c.2581G>C (p.Asp861His)
c.2476G>C (p.Asp826His)
3g.122285018G>TCA354161358CASRc.2833G>T (p.Asp945Tyr)
c.3094G>T (p.Asp1032Tyr)
c.3064G>T (p.Asp1022Tyr)
c.2581G>T (p.Asp861Tyr)
c.2476G>T (p.Asp826Tyr)
3g.122285019A=CA1397873203CASRc.2834A= (p.Asp945=)
c.3095A= (p.Asp1032=)
c.3065A= (p.Asp1022=)
c.2582A= (p.Asp861=)
c.2477A= (p.Asp826=)
3g.122285019A>CCA354161361CASRc.2834A>C (p.Asp945Ala)
c.3095A>C (p.Asp1032Ala)
c.3065A>C (p.Asp1022Ala)
c.2582A>C (p.Asp861Ala)
c.2477A>C (p.Asp826Ala)
3g.122285019A>GCA354161362CASRc.2834A>G (p.Asp945Gly)
c.3095A>G (p.Asp1032Gly)
c.3065A>G (p.Asp1022Gly)
c.2582A>G (p.Asp861Gly)
c.2477A>G (p.Asp826Gly)
 dbSNP
3g.122285019A>TCA354161363CASRc.2834A>T (p.Asp945Val)
c.3095A>T (p.Asp1032Val)
c.3065A>T (p.Asp1022Val)
c.2582A>T (p.Asp861Val)
c.2477A>T (p.Asp826Val)
3g.122285020C>ACA354161364CASRc.2835C>A (p.Asp945Glu)
c.3096C>A (p.Asp1032Glu)
c.3066C>A (p.Asp1022Glu)
c.2583C>A (p.Asp861Glu)
c.2478C>A (p.Asp826Glu)
3g.122285020C>GCA354161365CASRc.2835C>G (p.Asp945Glu)
c.3096C>G (p.Asp1032Glu)
c.3066C>G (p.Asp1022Glu)
c.2583C>G (p.Asp861Glu)
c.2478C>G (p.Asp826Glu)
3g.122285020C>TCA435425574CASRc.2835C>T (p.Asp945=)
c.3096C>T (p.Asp1032=)
c.3066C>T (p.Asp1022=)
c.2583C>T (p.Asp861=)
c.2478C>T (p.Asp826=)
3g.122285021T>ACA354161366CASRc.2836T>A (p.Leu946Ile)
c.3097T>A (p.Leu1033Ile)
c.3067T>A (p.Leu1023Ile)
c.2584T>A (p.Leu862Ile)
c.2479T>A (p.Leu827Ile)
3g.122285021T>CCA435425575CASRc.2836T>C (p.Leu946=)
c.3097T>C (p.Leu1033=)
c.3067T>C (p.Leu1023=)
c.2584T>C (p.Leu862=)
c.2479T>C (p.Leu827=)
3g.122285021T>GCA354161367CASRc.2836T>G (p.Leu946Val)
c.3097T>G (p.Leu1033Val)
c.3067T>G (p.Leu1023Val)
c.2584T>G (p.Leu862Val)
c.2479T>G (p.Leu827Val)
3g.122285022T>ACA354161368CASRc.2837T>A (p.Leu946Ter)
c.3098T>A (p.Leu1033Ter)
c.3068T>A (p.Leu1023Ter)
c.2585T>A (p.Leu862Ter)
c.2480T>A (p.Leu827Ter)
3g.122285022T>CCA354161369CASRc.2837T>C (p.Leu946Ser)
c.3098T>C (p.Leu1033Ser)
c.3068T>C (p.Leu1023Ser)
c.2585T>C (p.Leu862Ser)
c.2480T>C (p.Leu827Ser)
3g.122285022T>GCA354161370CASRc.2837T>G (p.Leu946Ter)
c.3098T>G (p.Leu1033Ter)
c.3068T>G (p.Leu1023Ter)
c.2585T>G (p.Leu862Ter)
c.2480T>G (p.Leu827Ter)
3g.122285023A=CA1397873205CASRc.2838A= (p.Leu946=)
c.3099A= (p.Leu1033=)
c.3069A= (p.Leu1023=)
c.2586A= (p.Leu862=)
c.2481A= (p.Leu827=)
3g.122285023A>CCA354161371CASRc.2838A>C (p.Leu946Phe)
c.3099A>C (p.Leu1033Phe)
c.3069A>C (p.Leu1023Phe)
c.2586A>C (p.Leu862Phe)
c.2481A>C (p.Leu827Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122285023A>GCA435425576CASRc.2838A>G (p.Leu946=)
c.3099A>G (p.Leu1033=)
c.3069A>G (p.Leu1023=)
c.2586A>G (p.Leu862=)
c.2481A>G (p.Leu827=)
 ClinVar dbSNP
3g.122285023A>TCA354161372CASRc.2838A>T (p.Leu946Phe)
c.3099A>T (p.Leu1033Phe)
c.3069A>T (p.Leu1023Phe)
c.2586A>T (p.Leu862Phe)
c.2481A>T (p.Leu827Phe)
3g.122285024G>ACA354161375CASRc.2839G>A (p.Asp947Asn)
c.3100G>A (p.Asp1034Asn)
c.3070G>A (p.Asp1024Asn)
c.2587G>A (p.Asp863Asn)
c.2482G>A (p.Asp828Asn)
3g.122285024G>CCA354161373CASRc.2839G>C (p.Asp947His)
c.3100G>C (p.Asp1034His)
c.3070G>C (p.Asp1024His)
c.2587G>C (p.Asp863His)
c.2482G>C (p.Asp828His)
3g.122285024G>TCA354161374CASRc.2839G>T (p.Asp947Tyr)
c.3100G>T (p.Asp1034Tyr)
c.3070G>T (p.Asp1024Tyr)
c.2587G>T (p.Asp863Tyr)
c.2482G>T (p.Asp828Tyr)
 ClinVar dbSNP
3g.122285025A>CCA354161376CASRc.2840A>C (p.Asp947Ala)
c.3101A>C (p.Asp1034Ala)
c.3071A>C (p.Asp1024Ala)
c.2588A>C (p.Asp863Ala)
c.2483A>C (p.Asp828Ala)
3g.122285025A>GCA354161377CASRc.2840A>G (p.Asp947Gly)
c.3101A>G (p.Asp1034Gly)
c.3071A>G (p.Asp1024Gly)
c.2588A>G (p.Asp863Gly)
c.2483A>G (p.Asp828Gly)
3g.122285025A>TCA354161378CASRc.2840A>T (p.Asp947Val)
c.3101A>T (p.Asp1034Val)
c.3071A>T (p.Asp1024Val)
c.2588A>T (p.Asp863Val)
c.2483A>T (p.Asp828Val)
3g.122285026T>ACA354161379CASRc.2841T>A (p.Asp947Glu)
c.3102T>A (p.Asp1034Glu)
c.3072T>A (p.Asp1024Glu)
c.2589T>A (p.Asp863Glu)
c.2484T>A (p.Asp828Glu)
3g.122285026T>CCA435425577CASRc.2841T>C (p.Asp947=)
c.3102T>C (p.Asp1034=)
c.3072T>C (p.Asp1024=)
c.2589T>C (p.Asp863=)
c.2484T>C (p.Asp828=)
 ClinVar gnomAD v4
3g.122285026T>GCA354161380CASRc.2841T>G (p.Asp947Glu)
c.3102T>G (p.Asp1034Glu)
c.3072T>G (p.Asp1024Glu)
c.2589T>G (p.Asp863Glu)
c.2484T>G (p.Asp828Glu)
3g.122285027C>ACA354161381CASRc.2842C>A (p.Leu948Met)
c.3103C>A (p.Leu1035Met)
c.3073C>A (p.Leu1025Met)
c.2590C>A (p.Leu864Met)
c.2485C>A (p.Leu829Met)
 COSMIC
3g.122285027C=CA1397873209CASRc.2842C= (p.Leu948=)
c.3103C= (p.Leu1035=)
c.3073C= (p.Leu1025=)
c.2590C= (p.Leu864=)
c.2485C= (p.Leu829=)
3g.122285027C>GCA354161382CASRc.2842C>G (p.Leu948Val)
c.3103C>G (p.Leu1035Val)
c.3073C>G (p.Leu1025Val)
c.2590C>G (p.Leu864Val)
c.2485C>G (p.Leu829Val)
 ClinVar
3g.122285027C>TCA2569927CASRc.2842C>T (p.Leu948=)
c.3103C>T (p.Leu1035=)
c.3073C>T (p.Leu1025=)
c.2590C>T (p.Leu864=)
c.2485C>T (p.Leu829=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122285028T>ACA354161383CASRc.2843T>A (p.Leu948Gln)
c.3104T>A (p.Leu1035Gln)
c.3074T>A (p.Leu1025Gln)
c.2591T>A (p.Leu864Gln)
c.2486T>A (p.Leu829Gln)
3g.122285028T>CCA354161384CASRc.2843T>C (p.Leu948Pro)
c.3104T>C (p.Leu1035Pro)
c.3074T>C (p.Leu1025Pro)
c.2591T>C (p.Leu864Pro)
c.2486T>C (p.Leu829Pro)
3g.122285028T>GCA354161385CASRc.2843T>G (p.Leu948Arg)
c.3104T>G (p.Leu1035Arg)
c.3074T>G (p.Leu1025Arg)
c.2591T>G (p.Leu864Arg)
c.2486T>G (p.Leu829Arg)
3g.122285029G>ACA435425578CASRc.2844G>A (p.Leu948=)
c.3105G>A (p.Leu1035=)
c.3075G>A (p.Leu1025=)
c.2592G>A (p.Leu864=)
c.2487G>A (p.Leu829=)
3g.122285029G>CCA435425579CASRc.2844G>C (p.Leu948=)
c.3105G>C (p.Leu1035=)
c.3075G>C (p.Leu1025=)
c.2592G>C (p.Leu864=)
c.2487G>C (p.Leu829=)
3g.122285029G>TCA435425580CASRc.2844G>T (p.Leu948=)
c.3105G>T (p.Leu1035=)
c.3075G>T (p.Leu1025=)
c.2592G>T (p.Leu864=)
c.2487G>T (p.Leu829=)
3g.122285030A>CCA354161387CASRc.2845A>C (p.Thr949Pro)
c.3106A>C (p.Thr1036Pro)
c.3076A>C (p.Thr1026Pro)
c.2593A>C (p.Thr865Pro)
c.2488A>C (p.Thr830Pro)
3g.122285030A>GCA354161388CASRc.2845A>G (p.Thr949Ala)
c.3106A>G (p.Thr1036Ala)
c.3076A>G (p.Thr1026Ala)
c.2593A>G (p.Thr865Ala)
c.2488A>G (p.Thr830Ala)
3g.122285030A>TCA354161386CASRc.2845A>T (p.Thr949Ser)
c.3106A>T (p.Thr1036Ser)
c.3076A>T (p.Thr1026Ser)
c.2593A>T (p.Thr865Ser)
c.2488A>T (p.Thr830Ser)
3g.122285031C>ACA354161391CASRc.2846C>A (p.Thr949Asn)
c.3107C>A (p.Thr1036Asn)
c.3077C>A (p.Thr1026Asn)
c.2594C>A (p.Thr865Asn)
c.2489C>A (p.Thr830Asn)
3g.122285031C>GCA354161389CASRc.2846C>G (p.Thr949Ser)
c.3107C>G (p.Thr1036Ser)
c.3077C>G (p.Thr1026Ser)
c.2594C>G (p.Thr865Ser)
c.2489C>G (p.Thr830Ser)
3g.122285031C>TCA354161390CASRc.2846C>T (p.Thr949Ile)
c.3107C>T (p.Thr1036Ile)
c.3077C>T (p.Thr1026Ile)
c.2594C>T (p.Thr865Ile)
c.2489C>T (p.Thr830Ile)
3g.122285032C>ACA2569928CASRc.2847C>A (p.Thr949=)
c.3108C>A (p.Thr1036=)
c.3078C>A (p.Thr1026=)
c.2595C>A (p.Thr865=)
c.2490C>A (p.Thr830=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285032C=CA1397873212CASRc.2847C= (p.Thr949=)
c.3108C= (p.Thr1036=)
c.3078C= (p.Thr1026=)
c.2595C= (p.Thr865=)
c.2490C= (p.Thr830=)
3g.122285032C>GCA435425581CASRc.2847C>G (p.Thr949=)
c.3108C>G (p.Thr1036=)
c.3078C>G (p.Thr1026=)
c.2595C>G (p.Thr865=)
c.2490C>G (p.Thr830=)
 gnomAD v2 gnomAD v3 gnomAD v4
3g.122285032C>TCA435425582CASRc.2847C>T (p.Thr949=)
c.3108C>T (p.Thr1036=)
c.3078C>T (p.Thr1026=)
c.2595C>T (p.Thr865=)
c.2490C>T (p.Thr830=)
 gnomAD v4 COSMIC
3g.122285033G>ACA2569929CASRc.2848G>A (p.Val950Ile)
c.3109G>A (p.Val1037Ile)
c.3079G>A (p.Val1027Ile)
c.2596G>A (p.Val866Ile)
c.2491G>A (p.Val831Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122285033G>CCA354161392CASRc.2848G>C (p.Val950Leu)
c.3109G>C (p.Val1037Leu)
c.3079G>C (p.Val1027Leu)
c.2596G>C (p.Val866Leu)
c.2491G>C (p.Val831Leu)
3g.122285033G=CA1397873214CASRc.2848G= (p.Val950=)
c.3109G= (p.Val1037=)
c.3079G= (p.Val1027=)
c.2596G= (p.Val866=)
c.2491G= (p.Val831=)
3g.122285033G>TCA354161393CASRc.2848G>T (p.Val950Phe)
c.3109G>T (p.Val1037Phe)
c.3079G>T (p.Val1027Phe)
c.2596G>T (p.Val866Phe)
c.2491G>T (p.Val831Phe)
3g.122285034T>ACA354161394CASRc.2849T>A (p.Val950Asp)
c.3110T>A (p.Val1037Asp)
c.3080T>A (p.Val1027Asp)
c.2597T>A (p.Val866Asp)
c.2492T>A (p.Val831Asp)
3g.122285034T>CCA2569930CASRc.2849T>C (p.Val950Ala)
c.3110T>C (p.Val1037Ala)
c.3080T>C (p.Val1027Ala)
c.2597T>C (p.Val866Ala)
c.2492T>C (p.Val831Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285034T>GCA354161395CASRc.2849T>G (p.Val950Gly)
c.3110T>G (p.Val1037Gly)
c.3080T>G (p.Val1027Gly)
c.2597T>G (p.Val866Gly)
c.2492T>G (p.Val831Gly)
3g.122285034T=CA1397873216CASRc.2849T= (p.Val950=)
c.3110T= (p.Val1037=)
c.3080T= (p.Val1027=)
c.2597T= (p.Val866=)
c.2492T= (p.Val831=)
3g.122285035C>ACA435425583CASRc.2850C>A (p.Val950=)
c.3111C>A (p.Val1037=)
c.3081C>A (p.Val1027=)
c.2598C>A (p.Val866=)
c.2493C>A (p.Val831=)
3g.122285035C>GCA435425584CASRc.2850C>G (p.Val950=)
c.3111C>G (p.Val1037=)
c.3081C>G (p.Val1027=)
c.2598C>G (p.Val866=)
c.2493C>G (p.Val831=)
3g.122285035C>TCA435425585CASRc.2850C>T (p.Val950=)
c.3111C>T (p.Val1037=)
c.3081C>T (p.Val1027=)
c.2598C>T (p.Val866=)
c.2493C>T (p.Val831=)
3g.122285036delCA2499216417CASRc.2851del (p.Gln951ArgfsTer28)
c.3112del (p.Gln1038ArgfsTer28)
c.3082del (p.Gln1028ArgfsTer28)
c.2599del (p.Gln867ArgfsTer28)
c.2494del (p.Gln832ArgfsTer28)
 ClinVar dbSNP
3g.122285036C>ACA354161396CASRc.2851C>A (p.Gln951Lys)
c.3112C>A (p.Gln1038Lys)
c.3082C>A (p.Gln1028Lys)
c.2599C>A (p.Gln867Lys)
c.2494C>A (p.Gln832Lys)
3g.122285036C=CA1397873218CASRc.2851C= (p.Gln951=)
c.3112C= (p.Gln1038=)
c.3082C= (p.Gln1028=)
c.2599C= (p.Gln867=)
c.2494C= (p.Gln832=)
3g.122285036C>GCA354161397CASRc.2851C>G (p.Gln951Glu)
c.3112C>G (p.Gln1038Glu)
c.3082C>G (p.Gln1028Glu)
c.2599C>G (p.Gln867Glu)
c.2494C>G (p.Gln832Glu)
3g.122285036C>TCA354161398CASRc.2851C>T (p.Gln951Ter)
c.3112C>T (p.Gln1038Ter)
c.3082C>T (p.Gln1028Ter)
c.2599C>T (p.Gln867Ter)
c.2494C>T (p.Gln832Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122285037A=CA1397873220CASRc.2852A= (p.Gln951=)
c.3113A= (p.Gln1038=)
c.3083A= (p.Gln1028=)
c.2600A= (p.Gln867=)
c.2495A= (p.Gln832=)
3g.122285037A>CCA354161400CASRc.2852A>C (p.Gln951Pro)
c.3113A>C (p.Gln1038Pro)
c.3083A>C (p.Gln1028Pro)
c.2600A>C (p.Gln867Pro)
c.2495A>C (p.Gln832Pro)
3g.122285037A>GCA354161401CASRc.2852A>G (p.Gln951Arg)
c.3113A>G (p.Gln1038Arg)
c.3083A>G (p.Gln1028Arg)
c.2600A>G (p.Gln867Arg)
c.2495A>G (p.Gln832Arg)
 ClinVar dbSNP gnomAD v4
3g.122285037A>TCA354161399CASRc.2852A>T (p.Gln951Leu)
c.3113A>T (p.Gln1038Leu)
c.3083A>T (p.Gln1028Leu)
c.2600A>T (p.Gln867Leu)
c.2495A>T (p.Gln832Leu)
3g.122285038G>ACA435425586CASRc.2853G>A (p.Gln951=)
c.3114G>A (p.Gln1038=)
c.3084G>A (p.Gln1028=)
c.2601G>A (p.Gln867=)
c.2496G>A (p.Gln832=)
 gnomAD v4
3g.122285038G>CCA354161402CASRc.2853G>C (p.Gln951His)
c.3114G>C (p.Gln1038His)
c.3084G>C (p.Gln1028His)
c.2601G>C (p.Gln867His)
c.2496G>C (p.Gln832His)
3g.122285038G>TCA354161403CASRc.2853G>T (p.Gln951His)
c.3114G>T (p.Gln1038His)
c.3084G>T (p.Gln1028His)
c.2601G>T (p.Gln867His)
c.2496G>T (p.Gln832His)
3g.122285039G>ACA354161404CASRc.2854G>A (p.Glu952Lys)
c.3115G>A (p.Glu1039Lys)
c.3085G>A (p.Glu1029Lys)
c.2602G>A (p.Glu868Lys)
c.2497G>A (p.Glu833Lys)
 ClinVar dbSNP COSMIC
3g.122285039G>CCA354161405CASRc.2854G>C (p.Glu952Gln)
c.3115G>C (p.Glu1039Gln)
c.3085G>C (p.Glu1029Gln)
c.2602G>C (p.Glu868Gln)
c.2497G>C (p.Glu833Gln)
3g.122285039G>TCA354161406CASRc.2854G>T (p.Glu952Ter)
c.3115G>T (p.Glu1039Ter)
c.3085G>T (p.Glu1029Ter)
c.2602G>T (p.Glu868Ter)
c.2497G>T (p.Glu833Ter)
3g.122285040A>CCA354161409CASRc.2855A>C (p.Glu952Ala)
c.3116A>C (p.Glu1039Ala)
c.3086A>C (p.Glu1029Ala)
c.2603A>C (p.Glu868Ala)
c.2498A>C (p.Glu833Ala)
 ClinVar dbSNP
3g.122285040A>GCA354161407CASRc.2855A>G (p.Glu952Gly)
c.3116A>G (p.Glu1039Gly)
c.3086A>G (p.Glu1029Gly)
c.2603A>G (p.Glu868Gly)
c.2498A>G (p.Glu833Gly)
 ClinVar gnomAD v4
3g.122285040A>TCA354161408CASRc.2855A>T (p.Glu952Val)
c.3116A>T (p.Glu1039Val)
c.3086A>T (p.Glu1029Val)
c.2603A>T (p.Glu868Val)
c.2498A>T (p.Glu833Val)
3g.122285042dupCA2573136469CASRc.2857dup (p.Thr953AsnfsTer19)
c.3118dup (p.Thr1040AsnfsTer19)
c.3088dup (p.Thr1030AsnfsTer19)
c.2605dup (p.Thr869AsnfsTer19)
c.2500dup (p.Thr834AsnfsTer19)
 ClinVar dbSNP
3g.122285041A=CA1397873222CASRc.2856A= (p.Glu952=)
c.3117A= (p.Glu1039=)
c.3087A= (p.Glu1029=)
c.2604A= (p.Glu868=)
c.2499A= (p.Glu833=)
3g.122285041A>CCA354161410CASRc.2856A>C (p.Glu952Asp)
c.3117A>C (p.Glu1039Asp)
c.3087A>C (p.Glu1029Asp)
c.2604A>C (p.Glu868Asp)
c.2499A>C (p.Glu833Asp)
3g.122285041A>GCA435425587CASRc.2856A>G (p.Glu952=)
c.3117A>G (p.Glu1039=)
c.3087A>G (p.Glu1029=)
c.2604A>G (p.Glu868=)
c.2499A>G (p.Glu833=)
 gnomAD v3 gnomAD v4
3g.122285041A>TCA2569931CASRc.2856A>T (p.Glu952Asp)
c.3117A>T (p.Glu1039Asp)
c.3087A>T (p.Glu1029Asp)
c.2604A>T (p.Glu868Asp)
c.2499A>T (p.Glu833Asp)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
3g.122285042A=CA1397873223CASRc.2857A= (p.Thr953=)
c.3118A= (p.Thr1040=)
c.3088A= (p.Thr1030=)
c.2605A= (p.Thr869=)
c.2500A= (p.Thr834=)
3g.122285042A>CCA354161411CASRc.2857A>C (p.Thr953Pro)
c.3118A>C (p.Thr1040Pro)
c.3088A>C (p.Thr1030Pro)
c.2605A>C (p.Thr869Pro)
c.2500A>C (p.Thr834Pro)
3g.122285042A>GCA354161412CASRc.2857A>G (p.Thr953Ala)
c.3118A>G (p.Thr1040Ala)
c.3088A>G (p.Thr1030Ala)
c.2605A>G (p.Thr869Ala)
c.2500A>G (p.Thr834Ala)
 ClinVar dbSNP gnomAD v4
3g.122285042A>TCA354161413CASRc.2857A>T (p.Thr953Ser)
c.3118A>T (p.Thr1040Ser)
c.3088A>T (p.Thr1030Ser)
c.2605A>T (p.Thr869Ser)
c.2500A>T (p.Thr834Ser)
3g.122285043C>ACA354161416CASRc.2858C>A (p.Thr953Lys)
c.3119C>A (p.Thr1040Lys)
c.3089C>A (p.Thr1030Lys)
c.2606C>A (p.Thr869Lys)
c.2501C>A (p.Thr834Lys)
3g.122285043C>GCA354161415CASRc.2858C>G (p.Thr953Arg)
c.3119C>G (p.Thr1040Arg)
c.3089C>G (p.Thr1030Arg)
c.2606C>G (p.Thr869Arg)
c.2501C>G (p.Thr834Arg)
 ClinVar dbSNP gnomAD v4
3g.122285043C>TCA354161414CASRc.2858C>T (p.Thr953Ile)
c.3119C>T (p.Thr1040Ile)
c.3089C>T (p.Thr1030Ile)
c.2606C>T (p.Thr869Ile)
c.2501C>T (p.Thr834Ile)
 ClinVar
3g.122285044A>CCA435425588CASRc.2859A>C (p.Thr953=)
c.3120A>C (p.Thr1040=)
c.3090A>C (p.Thr1030=)
c.2607A>C (p.Thr869=)
c.2502A>C (p.Thr834=)
3g.122285044A>GCA435425589CASRc.2859A>G (p.Thr953=)
c.3120A>G (p.Thr1040=)
c.3090A>G (p.Thr1030=)
c.2607A>G (p.Thr869=)
c.2502A>G (p.Thr834=)
 ClinVar
3g.122285044A>TCA435425590CASRc.2859A>T (p.Thr953=)
c.3120A>T (p.Thr1040=)
c.3090A>T (p.Thr1030=)
c.2607A>T (p.Thr869=)
c.2502A>T (p.Thr834=)
3g.122285045G>ACA213597CASRc.2860G>A (p.Gly954Ser)
c.3121G>A (p.Gly1041Ser)
c.3091G>A (p.Gly1031Ser)
c.2608G>A (p.Gly870Ser)
c.2503G>A (p.Gly835Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122285045G>CCA354161417CASRc.2860G>C (p.Gly954Arg)
c.3121G>C (p.Gly1041Arg)
c.3091G>C (p.Gly1031Arg)
c.2608G>C (p.Gly870Arg)
c.2503G>C (p.Gly835Arg)
 dbSNP
3g.122285045G=CA1397873224CASRc.2860G= (p.Gly954=)
c.3121G= (p.Gly1041=)
c.3091G= (p.Gly1031=)
c.2608G= (p.Gly870=)
c.2503G= (p.Gly835=)
3g.122285045G>TCA354161418CASRc.2860G>T (p.Gly954Cys)
c.3121G>T (p.Gly1041Cys)
c.3091G>T (p.Gly1031Cys)
c.2608G>T (p.Gly870Cys)
c.2503G>T (p.Gly835Cys)
3g.122285046G>ACA82749549CASRc.2861G>A (p.Gly954Asp)
c.3122G>A (p.Gly1041Asp)
c.3092G>A (p.Gly1031Asp)
c.2609G>A (p.Gly870Asp)
c.2504G>A (p.Gly835Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122285046G>CCA354161419CASRc.2861G>C (p.Gly954Ala)
c.3122G>C (p.Gly1041Ala)
c.3092G>C (p.Gly1031Ala)
c.2609G>C (p.Gly870Ala)
c.2504G>C (p.Gly835Ala)
3g.122285046G=CA1397873226CASRc.2861G= (p.Gly954=)
c.3122G= (p.Gly1041=)
c.3092G= (p.Gly1031=)
c.2609G= (p.Gly870=)
c.2504G= (p.Gly835=)
3g.122285046G>TCA354161420CASRc.2861G>T (p.Gly954Val)
c.3122G>T (p.Gly1041Val)
c.3092G>T (p.Gly1031Val)
c.2609G>T (p.Gly870Val)
c.2504G>T (p.Gly835Val)
3g.122285047T>ACA435425591CASRc.2862T>A (p.Gly954=)
c.3123T>A (p.Gly1041=)
c.3093T>A (p.Gly1031=)
c.2610T>A (p.Gly870=)
c.2505T>A (p.Gly835=)
 ClinVar
3g.122285047T>CCA435425592CASRc.2862T>C (p.Gly954=)
c.3123T>C (p.Gly1041=)
c.3093T>C (p.Gly1031=)
c.2610T>C (p.Gly870=)
c.2505T>C (p.Gly835=)
 ClinVar dbSNP
3g.122285047T>GCA435425593CASRc.2862T>G (p.Gly954=)
c.3123T>G (p.Gly1041=)
c.3093T>G (p.Gly1031=)
c.2610T>G (p.Gly870=)
c.2505T>G (p.Gly835=)
3g.122285047T=CA1397873228CASRc.2862T= (p.Gly954=)
c.3123T= (p.Gly1041=)
c.3093T= (p.Gly1031=)
c.2610T= (p.Gly870=)
c.2505T= (p.Gly835=)
3g.122285048C>ACA354161422CASRc.2863C>A (p.Leu955Met)
c.3124C>A (p.Leu1042Met)
c.3094C>A (p.Leu1032Met)
c.2611C>A (p.Leu871Met)
c.2506C>A (p.Leu836Met)
3g.122285048C>GCA354161421CASRc.2863C>G (p.Leu955Val)
c.3124C>G (p.Leu1042Val)
c.3094C>G (p.Leu1032Val)
c.2611C>G (p.Leu871Val)
c.2506C>G (p.Leu836Val)
3g.122285048C>TCA435425594CASRc.2863C>T (p.Leu955=)
c.3124C>T (p.Leu1042=)
c.3094C>T (p.Leu1032=)
c.2611C>T (p.Leu871=)
c.2506C>T (p.Leu836=)
3g.122285049T>ACA354161423CASRc.2864T>A (p.Leu955Gln)
c.3125T>A (p.Leu1042Gln)
c.3095T>A (p.Leu1032Gln)
c.2612T>A (p.Leu871Gln)
c.2507T>A (p.Leu836Gln)
3g.122285049T>CCA354161424CASRc.2864T>C (p.Leu955Pro)
c.3125T>C (p.Leu1042Pro)
c.3095T>C (p.Leu1032Pro)
c.2612T>C (p.Leu871Pro)
c.2507T>C (p.Leu836Pro)
3g.122285049T>GCA354161425CASRc.2864T>G (p.Leu955Arg)
c.3125T>G (p.Leu1042Arg)
c.3095T>G (p.Leu1032Arg)
c.2612T>G (p.Leu871Arg)
c.2507T>G (p.Leu836Arg)
 gnomAD v4 COSMIC
3g.122285050G>ACA435425595CASRc.2865G>A (p.Leu955=)
c.3126G>A (p.Leu1042=)
c.3096G>A (p.Leu1032=)
c.2613G>A (p.Leu871=)
c.2508G>A (p.Leu836=)
 ClinVar
3g.122285050G>CCA435425596CASRc.2865G>C (p.Leu955=)
c.3126G>C (p.Leu1042=)
c.3096G>C (p.Leu1032=)
c.2613G>C (p.Leu871=)
c.2508G>C (p.Leu836=)
3g.122285050G>TCA435425597CASRc.2865G>T (p.Leu955=)
c.3126G>T (p.Leu1042=)
c.3096G>T (p.Leu1032=)
c.2613G>T (p.Leu871=)
c.2508G>T (p.Leu836=)
 ClinVar dbSNP
3g.122285051C>ACA354161426CASRc.2866C>A (p.Gln956Lys)
c.3127C>A (p.Gln1043Lys)
c.3097C>A (p.Gln1033Lys)
c.2614C>A (p.Gln872Lys)
c.2509C>A (p.Gln837Lys)
3g.122285051C>GCA354161427CASRc.2866C>G (p.Gln956Glu)
c.3127C>G (p.Gln1043Glu)
c.3097C>G (p.Gln1033Glu)
c.2614C>G (p.Gln872Glu)
c.2509C>G (p.Gln837Glu)
3g.122285051C>TCA354161428CASRc.2866C>T (p.Gln956Ter)
c.3127C>T (p.Gln1043Ter)
c.3097C>T (p.Gln1033Ter)
c.2614C>T (p.Gln872Ter)
c.2509C>T (p.Gln837Ter)
3g.122285052A>CCA354161429CASRc.2867A>C (p.Gln956Pro)
c.3128A>C (p.Gln1043Pro)
c.3098A>C (p.Gln1033Pro)
c.2615A>C (p.Gln872Pro)
c.2510A>C (p.Gln837Pro)
3g.122285052A>GCA354161431CASRc.2867A>G (p.Gln956Arg)
c.3128A>G (p.Gln1043Arg)
c.3098A>G (p.Gln1033Arg)
c.2615A>G (p.Gln872Arg)
c.2510A>G (p.Gln837Arg)
3g.122285052A>TCA354161430CASRc.2867A>T (p.Gln956Leu)
c.3128A>T (p.Gln1043Leu)
c.3098A>T (p.Gln1033Leu)
c.2615A>T (p.Gln872Leu)
c.2510A>T (p.Gln837Leu)
3g.122285053A>CCA354161432CASRc.2868A>C (p.Gln956His)
c.3129A>C (p.Gln1043His)
c.3099A>C (p.Gln1033His)
c.2616A>C (p.Gln872His)
c.2511A>C (p.Gln837His)
3g.122285053A>GCA435425598CASRc.2868A>G (p.Gln956=)
c.3129A>G (p.Gln1043=)
c.3099A>G (p.Gln1033=)
c.2616A>G (p.Gln872=)
c.2511A>G (p.Gln837=)
3g.122285053A>TCA354161433CASRc.2868A>T (p.Gln956His)
c.3129A>T (p.Gln1043His)
c.3099A>T (p.Gln1033His)
c.2616A>T (p.Gln872His)
c.2511A>T (p.Gln837His)
3g.122285054G>ACA354161434CASRc.2869G>A (p.Gly957Arg)
c.3130G>A (p.Gly1044Arg)
c.3100G>A (p.Gly1034Arg)
c.2617G>A (p.Gly873Arg)
c.2512G>A (p.Gly838Arg)
 ClinVar
3g.122285054G>CCA354161435CASRc.2869G>C (p.Gly957Arg)
c.3130G>C (p.Gly1044Arg)
c.3100G>C (p.Gly1034Arg)
c.2617G>C (p.Gly873Arg)
c.2512G>C (p.Gly838Arg)
3g.122285054G>TCA354161436CASRc.2869G>T (p.Gly957Ter)
c.3130G>T (p.Gly1044Ter)
c.3100G>T (p.Gly1034Ter)
c.2617G>T (p.Gly873Ter)
c.2512G>T (p.Gly838Ter)
3g.122285055G>ACA354161437CASRc.2870G>A (p.Gly957Glu)
c.3131G>A (p.Gly1044Glu)
c.3101G>A (p.Gly1034Glu)
c.2618G>A (p.Gly873Glu)
c.2513G>A (p.Gly838Glu)
 COSMIC
3g.122285055G>CCA354161438CASRc.2870G>C (p.Gly957Ala)
c.3131G>C (p.Gly1044Ala)
c.3101G>C (p.Gly1034Ala)
c.2618G>C (p.Gly873Ala)
c.2513G>C (p.Gly838Ala)
3g.122285055G>TCA354161439CASRc.2870G>T (p.Gly957Val)
c.3131G>T (p.Gly1044Val)
c.3101G>T (p.Gly1034Val)
c.2618G>T (p.Gly873Val)
c.2513G>T (p.Gly838Val)
 ClinVar
3g.122285056A>CCA435425599CASRc.2871A>C (p.Gly957=)
c.3132A>C (p.Gly1044=)
c.3102A>C (p.Gly1034=)
c.2619A>C (p.Gly873=)
c.2514A>C (p.Gly838=)
3g.122285056A>GCA435425600CASRc.2871A>G (p.Gly957=)
c.3132A>G (p.Gly1044=)
c.3102A>G (p.Gly1034=)
c.2619A>G (p.Gly873=)
c.2514A>G (p.Gly838=)
3g.122285056A>TCA435425601CASRc.2871A>T (p.Gly957=)
c.3132A>T (p.Gly1044=)
c.3102A>T (p.Gly1034=)
c.2619A>T (p.Gly873=)
c.2514A>T (p.Gly838=)
3g.122285057C>ACA354161440CASRc.2872C>A (p.Pro958Thr)
c.3133C>A (p.Pro1045Thr)
c.3103C>A (p.Pro1035Thr)
c.2620C>A (p.Pro874Thr)
c.2515C>A (p.Pro839Thr)
3g.122285057C=CA1397873230CASRc.2872C= (p.Pro958=)
c.3133C= (p.Pro1045=)
c.3103C= (p.Pro1035=)
c.2620C= (p.Pro874=)
c.2515C= (p.Pro839=)
3g.122285057C>GCA354161441CASRc.2872C>G (p.Pro958Ala)
c.3133C>G (p.Pro1045Ala)
c.3103C>G (p.Pro1035Ala)
c.2620C>G (p.Pro874Ala)
c.2515C>G (p.Pro839Ala)
3g.122285057C>TCA2569932CASRc.2872C>T (p.Pro958Ser)
c.3133C>T (p.Pro1045Ser)
c.3103C>T (p.Pro1035Ser)
c.2620C>T (p.Pro874Ser)
c.2515C>T (p.Pro839Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285058delCA2586972878CASRc.2873del (p.Pro958LeufsTer21)
c.3134del (p.Pro1045LeufsTer21)
c.3104del (p.Pro1035LeufsTer21)
c.2621del (p.Pro874LeufsTer21)
c.2516del (p.Pro839LeufsTer21)
3g.122285058C>ACA354161444CASRc.2873C>A (p.Pro958His)
c.3134C>A (p.Pro1045His)
c.3104C>A (p.Pro1035His)
c.2621C>A (p.Pro874His)
c.2516C>A (p.Pro839His)
 ClinVar gnomAD v4
3g.122285058C=CA1397873232CASRc.2873C= (p.Pro958=)
c.3134C= (p.Pro1045=)
c.3104C= (p.Pro1035=)
c.2621C= (p.Pro874=)
c.2516C= (p.Pro839=)
3g.122285058C>GCA354161443CASRc.2873C>G (p.Pro958Arg)
c.3134C>G (p.Pro1045Arg)
c.3104C>G (p.Pro1035Arg)
c.2621C>G (p.Pro874Arg)
c.2516C>G (p.Pro839Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.122285058C>TCA354161442CASRc.2873C>T (p.Pro958Leu)
c.3134C>T (p.Pro1045Leu)
c.3104C>T (p.Pro1035Leu)
c.2621C>T (p.Pro874Leu)
c.2516C>T (p.Pro839Leu)
 gnomAD v4
3g.122285059T>ACA435425602CASRc.2874T>A (p.Pro958=)
c.3135T>A (p.Pro1045=)
c.3105T>A (p.Pro1035=)
c.2622T>A (p.Pro874=)
c.2517T>A (p.Pro839=)
3g.122285059T>CCA435425603CASRc.2874T>C (p.Pro958=)
c.3135T>C (p.Pro1045=)
c.3105T>C (p.Pro1035=)
c.2622T>C (p.Pro874=)
c.2517T>C (p.Pro839=)
3g.122285059T>GCA435425604CASRc.2874T>G (p.Pro958=)
c.3135T>G (p.Pro1045=)
c.3105T>G (p.Pro1035=)
c.2622T>G (p.Pro874=)
c.2517T>G (p.Pro839=)
3g.122285060G>ACA354161445CASRc.2875G>A (p.Val959Met)
c.3136G>A (p.Val1046Met)
c.3106G>A (p.Val1036Met)
c.2623G>A (p.Val875Met)
c.2518G>A (p.Val840Met)
 ClinVar
3g.122285060G>CCA354161447CASRc.2875G>C (p.Val959Leu)
c.3136G>C (p.Val1046Leu)
c.3106G>C (p.Val1036Leu)
c.2623G>C (p.Val875Leu)
c.2518G>C (p.Val840Leu)
3g.122285060G>TCA354161446CASRc.2875G>T (p.Val959Leu)
c.3136G>T (p.Val1046Leu)
c.3106G>T (p.Val1036Leu)
c.2623G>T (p.Val875Leu)
c.2518G>T (p.Val840Leu)
3g.122285061T>ACA354161448CASRc.2876T>A (p.Val959Glu)
c.3137T>A (p.Val1046Glu)
c.3107T>A (p.Val1036Glu)
c.2624T>A (p.Val875Glu)
c.2519T>A (p.Val840Glu)
3g.122285061T>CCA216136CASRc.2876T>C (p.Val959Ala)
c.3137T>C (p.Val1046Ala)
c.3107T>C (p.Val1036Ala)
c.2624T>C (p.Val875Ala)
c.2519T>C (p.Val840Ala)
 ClinVar dbSNP gnomAD v4
3g.122285061T>GCA354161449CASRc.2876T>G (p.Val959Gly)
c.3137T>G (p.Val1046Gly)
c.3107T>G (p.Val1036Gly)
c.2624T>G (p.Val875Gly)
c.2519T>G (p.Val840Gly)
3g.122285061T=CA1397873234CASRc.2876T= (p.Val959=)
c.3137T= (p.Val1046=)
c.3107T= (p.Val1036=)
c.2624T= (p.Val875=)
c.2519T= (p.Val840=)
3g.122285062G>ACA435425605CASRc.2877G>A (p.Val959=)
c.3138G>A (p.Val1046=)
c.3108G>A (p.Val1036=)
c.2625G>A (p.Val875=)
c.2520G>A (p.Val840=)
 ClinVar gnomAD v4
3g.122285062G>CCA435425606CASRc.2877G>C (p.Val959=)
c.3138G>C (p.Val1046=)
c.3108G>C (p.Val1036=)
c.2625G>C (p.Val875=)
c.2520G>C (p.Val840=)
3g.122285062G>TCA435425607CASRc.2877G>T (p.Val959=)
c.3138G>T (p.Val1046=)
c.3108G>T (p.Val1036=)
c.2625G>T (p.Val875=)
c.2520G>T (p.Val840=)
3g.122285063G>ACA354161450CASRc.2878G>A (p.Gly960Ser)
c.3139G>A (p.Gly1047Ser)
c.3109G>A (p.Gly1037Ser)
c.2626G>A (p.Gly876Ser)
c.2521G>A (p.Gly841Ser)
3g.122285063G>CCA354161451CASRc.2878G>C (p.Gly960Arg)
c.3139G>C (p.Gly1047Arg)
c.3109G>C (p.Gly1037Arg)
c.2626G>C (p.Gly876Arg)
c.2521G>C (p.Gly841Arg)
3g.122285063G>TCA354161452CASRc.2878G>T (p.Gly960Cys)
c.3139G>T (p.Gly1047Cys)
c.3109G>T (p.Gly1037Cys)
c.2626G>T (p.Gly876Cys)
c.2521G>T (p.Gly841Cys)
 gnomAD v4
3g.122285064G>ACA354161453CASRc.2879G>A (p.Gly960Asp)
c.3140G>A (p.Gly1047Asp)
c.3110G>A (p.Gly1037Asp)
c.2627G>A (p.Gly876Asp)
c.2522G>A (p.Gly841Asp)
3g.122285064G>CCA354161454CASRc.2879G>C (p.Gly960Ala)
c.3140G>C (p.Gly1047Ala)
c.3110G>C (p.Gly1037Ala)
c.2627G>C (p.Gly876Ala)
c.2522G>C (p.Gly841Ala)
3g.122285064G=CA1397873237CASRc.2879G= (p.Gly960=)
c.3140G= (p.Gly1047=)
c.3110G= (p.Gly1037=)
c.2627G= (p.Gly876=)
c.2522G= (p.Gly841=)
3g.122285064G>TCA354161455CASRc.2879G>T (p.Gly960Val)
c.3140G>T (p.Gly1047Val)
c.3110G>T (p.Gly1037Val)
c.2627G>T (p.Gly876Val)
c.2522G>T (p.Gly841Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122285065T>ACA435425608CASRc.2880T>A (p.Gly960=)
c.3141T>A (p.Gly1047=)
c.3111T>A (p.Gly1037=)
c.2628T>A (p.Gly876=)
c.2523T>A (p.Gly841=)
3g.122285065T>CCA435425609CASRc.2880T>C (p.Gly960=)
c.3141T>C (p.Gly1047=)
c.3111T>C (p.Gly1037=)
c.2628T>C (p.Gly876=)
c.2523T>C (p.Gly841=)
3g.122285065T>GCA435425610CASRc.2880T>G (p.Gly960=)
c.3141T>G (p.Gly1047=)
c.3111T>G (p.Gly1037=)
c.2628T>G (p.Gly876=)
c.2523T>G (p.Gly841=)
3g.122285066G>ACA2569933CASRc.2881G>A (p.Gly961Arg)
c.3142G>A (p.Gly1048Arg)
c.3112G>A (p.Gly1038Arg)
c.2629G>A (p.Gly877Arg)
c.2524G>A (p.Gly842Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122285066G>CCA354161456CASRc.2881G>C (p.Gly961Arg)
c.3142G>C (p.Gly1048Arg)
c.3112G>C (p.Gly1038Arg)
c.2629G>C (p.Gly877Arg)
c.2524G>C (p.Gly842Arg)
3g.122285066G=CA1397873239CASRc.2881G= (p.Gly961=)
c.3142G= (p.Gly1048=)
c.3112G= (p.Gly1038=)
c.2629G= (p.Gly877=)
c.2524G= (p.Gly842=)
3g.122285066G>TCA354161457CASRc.2881G>T (p.Gly961Ter)
c.3142G>T (p.Gly1048Ter)
c.3112G>T (p.Gly1038Ter)
c.2629G>T (p.Gly877Ter)
c.2524G>T (p.Gly842Ter)
 ClinVar dbSNP gnomAD v4
3g.122285067G>ACA354161458CASRc.2882G>A (p.Gly961Glu)
c.3143G>A (p.Gly1048Glu)
c.3113G>A (p.Gly1038Glu)
c.2630G>A (p.Gly877Glu)
c.2525G>A (p.Gly842Glu)
3g.122285067G>CCA354161459CASRc.2882G>C (p.Gly961Ala)
c.3143G>C (p.Gly1048Ala)
c.3113G>C (p.Gly1038Ala)
c.2630G>C (p.Gly877Ala)
c.2525G>C (p.Gly842Ala)
3g.122285067G>TCA354161460CASRc.2882G>T (p.Gly961Val)
c.3143G>T (p.Gly1048Val)
c.3113G>T (p.Gly1038Val)
c.2630G>T (p.Gly877Val)
c.2525G>T (p.Gly842Val)
3g.122285068A>CCA435425611CASRc.2883A>C (p.Gly961=)
c.3144A>C (p.Gly1048=)
c.3114A>C (p.Gly1038=)
c.2631A>C (p.Gly877=)
c.2526A>C (p.Gly842=)
3g.122285068A>GCA435425612CASRc.2883A>G (p.Gly961=)
c.3144A>G (p.Gly1048=)
c.3114A>G (p.Gly1038=)
c.2631A>G (p.Gly877=)
c.2526A>G (p.Gly842=)
 ClinVar dbSNP
3g.122285068A>TCA435425613CASRc.2883A>T (p.Gly961=)
c.3144A>T (p.Gly1048=)
c.3114A>T (p.Gly1038=)
c.2631A>T (p.Gly877=)
c.2526A>T (p.Gly842=)
3g.122285069G>ACA354161463CASRc.2884G>A (p.Asp962Asn)
c.3145G>A (p.Asp1049Asn)
c.3115G>A (p.Asp1039Asn)
c.2632G>A (p.Asp878Asn)
c.2527G>A (p.Asp843Asn)
3g.122285069G>CCA354161461CASRc.2884G>C (p.Asp962His)
c.3145G>C (p.Asp1049His)
c.3115G>C (p.Asp1039His)
c.2632G>C (p.Asp878His)
c.2527G>C (p.Asp843His)
 dbSNP gnomAD v2
3g.122285069G=CA1397873241CASRc.2884G= (p.Asp962=)
c.3145G= (p.Asp1049=)
c.3115G= (p.Asp1039=)
c.2632G= (p.Asp878=)
c.2527G= (p.Asp843=)
3g.122285069G>TCA354161462CASRc.2884G>T (p.Asp962Tyr)
c.3145G>T (p.Asp1049Tyr)
c.3115G>T (p.Asp1039Tyr)
c.2632G>T (p.Asp878Tyr)
c.2527G>T (p.Asp843Tyr)
3g.122285070A>CCA354161464CASRc.2885A>C (p.Asp962Ala)
c.3146A>C (p.Asp1049Ala)
c.3116A>C (p.Asp1039Ala)
c.2633A>C (p.Asp878Ala)
c.2528A>C (p.Asp843Ala)
3g.122285070A>GCA354161465CASRc.2885A>G (p.Asp962Gly)
c.3146A>G (p.Asp1049Gly)
c.3116A>G (p.Asp1039Gly)
c.2633A>G (p.Asp878Gly)
c.2528A>G (p.Asp843Gly)
3g.122285070A>TCA354161466CASRc.2885A>T (p.Asp962Val)
c.3146A>T (p.Asp1049Val)
c.3116A>T (p.Asp1039Val)
c.2633A>T (p.Asp878Val)
c.2528A>T (p.Asp843Val)
3g.122285071C>ACA354161467CASRc.2886C>A (p.Asp962Glu)
c.3147C>A (p.Asp1049Glu)
c.3117C>A (p.Asp1039Glu)
c.2634C>A (p.Asp878Glu)
c.2529C>A (p.Asp843Glu)
 gnomAD v4
3g.122285071C>GCA354161468CASRc.2886C>G (p.Asp962Glu)
c.3147C>G (p.Asp1049Glu)
c.3117C>G (p.Asp1039Glu)
c.2634C>G (p.Asp878Glu)
c.2529C>G (p.Asp843Glu)
 ClinVar
3g.122285071C>TCA435425614CASRc.2886C>T (p.Asp962=)
c.3147C>T (p.Asp1049=)
c.3117C>T (p.Asp1039=)
c.2634C>T (p.Asp878=)
c.2529C>T (p.Asp843=)
 ClinVar
3g.122285072C>ACA354161469CASRc.2887C>A (p.Gln963Lys)
c.3148C>A (p.Gln1050Lys)
c.3118C>A (p.Gln1040Lys)
c.2635C>A (p.Gln879Lys)
c.2530C>A (p.Gln844Lys)
 ClinVar
3g.122285072C=CA1397873243CASRc.2887C= (p.Gln963=)
c.3148C= (p.Gln1050=)
c.3118C= (p.Gln1040=)
c.2635C= (p.Gln879=)
c.2530C= (p.Gln844=)
3g.122285072C>GCA82749561CASRc.2887C>G (p.Gln963Glu)
c.3148C>G (p.Gln1050Glu)
c.3118C>G (p.Gln1040Glu)
c.2635C>G (p.Gln879Glu)
c.2530C>G (p.Gln844Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122285072C>TCA354161470CASRc.2887C>T (p.Gln963Ter)
c.3148C>T (p.Gln1050Ter)
c.3118C>T (p.Gln1040Ter)
c.2635C>T (p.Gln879Ter)
c.2530C>T (p.Gln844Ter)
 ClinVar dbSNP gnomAD v4
3g.122285073A>CCA354161472CASRc.2888A>C (p.Gln963Pro)
c.3149A>C (p.Gln1050Pro)
c.3119A>C (p.Gln1040Pro)
c.2636A>C (p.Gln879Pro)
c.2531A>C (p.Gln844Pro)
3g.122285073A>GCA354161474CASRc.2888A>G (p.Gln963Arg)
c.3149A>G (p.Gln1050Arg)
c.3119A>G (p.Gln1040Arg)
c.2636A>G (p.Gln879Arg)
c.2531A>G (p.Gln844Arg)
3g.122285073A>TCA354161475CASRc.2888A>T (p.Gln963Leu)
c.3149A>T (p.Gln1050Leu)
c.3119A>T (p.Gln1040Leu)
c.2636A>T (p.Gln879Leu)
c.2531A>T (p.Gln844Leu)
3g.122285074G>ACA435425615CASRc.2889G>A (p.Gln963=)
c.3150G>A (p.Gln1050=)
c.3120G>A (p.Gln1040=)
c.2637G>A (p.Gln879=)
c.2532G>A (p.Gln844=)
 ClinVar
3g.122285074G>CCA354161477CASRc.2889G>C (p.Gln963His)
c.3150G>C (p.Gln1050His)
c.3120G>C (p.Gln1040His)
c.2637G>C (p.Gln879His)
c.2532G>C (p.Gln844His)
3g.122285074G>TCA354161478CASRc.2889G>T (p.Gln963His)
c.3150G>T (p.Gln1050His)
c.3120G>T (p.Gln1040His)
c.2637G>T (p.Gln879His)
c.2532G>T (p.Gln844His)
 ClinVar dbSNP
3g.122285075C>ACA435425616CASRc.2890C>A (p.Arg964=)
c.3151C>A (p.Arg1051=)
c.3121C>A (p.Arg1041=)
c.2638C>A (p.Arg880=)
c.2533C>A (p.Arg845=)
 ClinVar dbSNP
3g.122285075C=CA1397873245CASRc.2890C= (p.Arg964=)
c.3151C= (p.Arg1051=)
c.3121C= (p.Arg1041=)
c.2638C= (p.Arg880=)
c.2533C= (p.Arg845=)
3g.122285075C>GCA354161480CASRc.2890C>G (p.Arg964Gly)
c.3151C>G (p.Arg1051Gly)
c.3121C>G (p.Arg1041Gly)
c.2638C>G (p.Arg880Gly)
c.2533C>G (p.Arg845Gly)
3g.122285075C>TCA174089CASRc.2890C>T (p.Arg964Trp)
c.3151C>T (p.Arg1051Trp)
c.3121C>T (p.Arg1041Trp)
c.2638C>T (p.Arg880Trp)
c.2533C>T (p.Arg845Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122285076G>ACA2569934CASRc.2891G>A (p.Arg964Gln)
c.3152G>A (p.Arg1051Gln)
c.3122G>A (p.Arg1041Gln)
c.2639G>A (p.Arg880Gln)
c.2534G>A (p.Arg845Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122285076G>CCA354161484CASRc.2891G>C (p.Arg964Pro)
c.3152G>C (p.Arg1051Pro)
c.3122G>C (p.Arg1041Pro)
c.2639G>C (p.Arg880Pro)
c.2534G>C (p.Arg845Pro)
3g.122285076G=CA1397873247CASRc.2891G= (p.Arg964=)
c.3152G= (p.Arg1051=)
c.3122G= (p.Arg1041=)
c.2639G= (p.Arg880=)
c.2534G= (p.Arg845=)
3g.122285076G>TCA354161486CASRc.2891G>T (p.Arg964Leu)
c.3152G>T (p.Arg1051Leu)
c.3122G>T (p.Arg1041Leu)
c.2639G>T (p.Arg880Leu)
c.2534G>T (p.Arg845Leu)
3g.122285077G>ACA435425619CASRc.2892G>A (p.Arg964=)
c.3153G>A (p.Arg1051=)
c.3123G>A (p.Arg1041=)
c.2640G>A (p.Arg880=)
c.2535G>A (p.Arg845=)
 dbSNP gnomAD v4
3g.122285077G>CCA435425618CASRc.2892G>C (p.Arg964=)
c.3153G>C (p.Arg1051=)
c.3123G>C (p.Arg1041=)
c.2640G>C (p.Arg880=)
c.2535G>C (p.Arg845=)
3g.122285077G=CA1397873249CASRc.2892G= (p.Arg964=)
c.3153G= (p.Arg1051=)
c.3123G= (p.Arg1041=)
c.2640G= (p.Arg880=)
c.2535G= (p.Arg845=)
3g.122285077G>TCA435425617CASRc.2892G>T (p.Arg964=)
c.3153G>T (p.Arg1051=)
c.3123G>T (p.Arg1041=)
c.2640G>T (p.Arg880=)
c.2535G>T (p.Arg845=)

Number of alleles fetched