UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169541690_169541705delinsCTTGAATGGGGAATGT | CA1206132350 | F5 | c.3385_3400delinsACATTCCCCATTCAAG (p.Thr1129=) c.3400_3415delinsACATTCCCCATTCAAG (p.Thr1134=) c.2974_2989delinsACATTCCCCATTCAAG (p.Thr992=) | |
| 1 | g.169541695_169541709del | CA1206132352 | F5 | c.3385_3399del (p.Thr1129_Gln1133del) c.3400_3414del (p.Thr1134_Gln1138del) c.2974_2988del (p.Thr992_Gln996del) | dbSNP |
| 1 | g.169541705T>A | CA343118183 | F5 | c.3385A>T (p.Thr1129Ser) c.3400A>T (p.Thr1134Ser) c.2974A>T (p.Thr992Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541705T>C | CA343118185 | F5 | c.3385A>G (p.Thr1129Ala) c.3400A>G (p.Thr1134Ala) c.2974A>G (p.Thr992Ala) | dbSNP |
| 1 | g.169541705T>G | CA343118186 | F5 | c.3385A>C (p.Thr1129Pro) c.3400A>C (p.Thr1134Pro) c.2974A>C (p.Thr992Pro) | |
| 1 | g.169541705T= | CA1206132371 | F5 | c.3385A= (p.Thr1129=) c.3400A= (p.Thr1134=) c.2974A= (p.Thr992=) | |
| 1 | g.169541706T>A | CA343118191 | F5 | c.3384A>T (p.Gln1128His) c.3399A>T (p.Gln1133His) c.2973A>T (p.Gln991His) | |
| 1 | g.169541706T>C | CA1233922 | F5 | c.3384A>G (p.Gln1128=) c.3399A>G (p.Gln1133=) c.2973A>G (p.Gln991=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541706T>G | CA343118194 | F5 | c.3384A>C (p.Gln1128His) c.3399A>C (p.Gln1133His) c.2973A>C (p.Gln991His) | |
| 1 | g.169541706T= | CA1206132374 | F5 | c.3384A= (p.Gln1128=) c.3399A= (p.Gln1133=) c.2973A= (p.Gln991=) | |
| 1 | g.169541707T>A | CA343118200 | F5 | c.3383A>T (p.Gln1128Leu) c.3398A>T (p.Gln1133Leu) c.2972A>T (p.Gln991Leu) | |
| 1 | g.169541707T>C | CA343118202 | F5 | c.3383A>G (p.Gln1128Arg) c.3398A>G (p.Gln1133Arg) c.2972A>G (p.Gln991Arg) | |
| 1 | g.169541707T>G | CA343118197 | F5 | c.3383A>C (p.Gln1128Pro) c.3398A>C (p.Gln1133Pro) c.2972A>C (p.Gln991Pro) | |
| 1 | g.169541708G>A | CA343118204 | F5 | c.3382C>T (p.Gln1128Ter) c.3397C>T (p.Gln1133Ter) c.2971C>T (p.Gln991Ter) | gnomAD v4 COSMIC |
| 1 | g.169541708G>C | CA343118203 | F5 | c.3382C>G (p.Gln1128Glu) c.3397C>G (p.Gln1133Glu) c.2971C>G (p.Gln991Glu) | |
| 1 | g.169541708G>T | CA343118205 | F5 | c.3382C>A (p.Gln1128Lys) c.3397C>A (p.Gln1133Lys) c.2971C>A (p.Gln991Lys) | COSMIC |
| 1 | g.169541709A>C | CA343118207 | F5 | c.3381T>G (p.Tyr1127Ter) c.3396T>G (p.Tyr1132Ter) c.2970T>G (p.Tyr990Ter) | |
| 1 | g.169541709A>G | CA421930500 | F5 | c.3381T>C (p.Tyr1127=) c.3396T>C (p.Tyr1132=) c.2970T>C (p.Tyr990=) | gnomAD v4 |
| 1 | g.169541709A>T | CA343118208 | F5 | c.3381T>A (p.Tyr1127Ter) c.3396T>A (p.Tyr1132Ter) c.2970T>A (p.Tyr990Ter) | |
| 1 | g.169541710T>A | CA343118210 | F5 | c.3380A>T (p.Tyr1127Phe) c.3395A>T (p.Tyr1132Phe) c.2969A>T (p.Tyr990Phe) | |
| 1 | g.169541710T>C | CA343118216 | F5 | c.3380A>G (p.Tyr1127Cys) c.3395A>G (p.Tyr1132Cys) c.2969A>G (p.Tyr990Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541710T>G | CA343118213 | F5 | c.3380A>C (p.Tyr1127Ser) c.3395A>C (p.Tyr1132Ser) c.2969A>C (p.Tyr990Ser) | |
| 1 | g.169541710T= | CA1206132378 | F5 | c.3380A= (p.Tyr1127=) c.3395A= (p.Tyr1132=) c.2969A= (p.Tyr990=) | |
| 1 | g.169541711A>C | CA343118217 | F5 | c.3379T>G (p.Tyr1127Asp) c.3394T>G (p.Tyr1132Asp) c.2968T>G (p.Tyr990Asp) | |
| 1 | g.169541711A>G | CA343118221 | F5 | c.3379T>C (p.Tyr1127His) c.3394T>C (p.Tyr1132His) c.2968T>C (p.Tyr990His) | gnomAD v4 |
| 1 | g.169541711A>T | CA343118218 | F5 | c.3379T>A (p.Tyr1127Asn) c.3394T>A (p.Tyr1132Asn) c.2968T>A (p.Tyr990Asn) | |
| 1 | g.169541712G>A | CA421930504 | F5 | c.3378C>T (p.His1126=) c.3393C>T (p.His1131=) c.2967C>T (p.His989=) | |
| 1 | g.169541712G>C | CA343118224 | F5 | c.3378C>G (p.His1126Gln) c.3393C>G (p.His1131Gln) c.2967C>G (p.His989Gln) | |
| 1 | g.169541712G>T | CA343118227 | F5 | c.3378C>A (p.His1126Gln) c.3393C>A (p.His1131Gln) c.2967C>A (p.His989Gln) | |
| 1 | g.169541713T>A | CA343118229 | F5 | c.3377A>T (p.His1126Leu) c.3392A>T (p.His1131Leu) c.2966A>T (p.His989Leu) | |
| 1 | g.169541713T>C | CA343118231 | F5 | c.3377A>G (p.His1126Arg) c.3392A>G (p.His1131Arg) c.2966A>G (p.His989Arg) | |
| 1 | g.169541713T>G | CA343118234 | F5 | c.3377A>C (p.His1126Pro) c.3392A>C (p.His1131Pro) c.2966A>C (p.His989Pro) | |
| 1 | g.169541714G>A | CA343118237 | F5 | c.3376C>T (p.His1126Tyr) c.3391C>T (p.His1131Tyr) c.2965C>T (p.His989Tyr) | |
| 1 | g.169541714G>C | CA343118240 | F5 | c.3376C>G (p.His1126Asp) c.3391C>G (p.His1131Asp) c.2965C>G (p.His989Asp) | |
| 1 | g.169541714G>T | CA343118242 | F5 | c.3376C>A (p.His1126Asn) c.3391C>A (p.His1131Asn) c.2965C>A (p.His989Asn) | |
| 1 | g.169541715T>A | CA343118246 | F5 | c.3375A>T (p.Glu1125Asp) c.3390A>T (p.Glu1130Asp) c.2964A>T (p.Glu988Asp) | |
| 1 | g.169541715T>C | CA421930511 | F5 | c.3375A>G (p.Glu1125=) c.3390A>G (p.Glu1130=) c.2964A>G (p.Glu988=) | COSMIC |
| 1 | g.169541715T>G | CA343118249 | F5 | c.3375A>C (p.Glu1125Asp) c.3390A>C (p.Glu1130Asp) c.2964A>C (p.Glu988Asp) | |
| 1 | g.169541716T>A | CA343118257 | F5 | c.3374A>T (p.Glu1125Val) c.3389A>T (p.Glu1130Val) c.2963A>T (p.Glu988Val) | |
| 1 | g.169541716T>C | CA343118255 | F5 | c.3374A>G (p.Glu1125Gly) c.3389A>G (p.Glu1130Gly) c.2963A>G (p.Glu988Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541716T>G | CA343118252 | F5 | c.3374A>C (p.Glu1125Ala) c.3389A>C (p.Glu1130Ala) c.2963A>C (p.Glu988Ala) | |
| 1 | g.169541716T= | CA1206132380 | F5 | c.3374A= (p.Glu1125=) c.3389A= (p.Glu1130=) c.2963A= (p.Glu988=) | |
| 1 | g.169541717C>A | CA343118259 | F5 | c.3373G>T (p.Glu1125Ter) c.3388G>T (p.Glu1130Ter) c.2962G>T (p.Glu988Ter) | |
| 1 | g.169541717C>G | CA343118262 | F5 | c.3373G>C (p.Glu1125Gln) c.3388G>C (p.Glu1130Gln) c.2962G>C (p.Glu988Gln) | |
| 1 | g.169541717C>T | CA343118265 | F5 | c.3373G>A (p.Glu1125Lys) c.3388G>A (p.Glu1130Lys) c.2962G>A (p.Glu988Lys) | |
| 1 | g.169541718C>A | CA343118267 | F5 | c.3372G>T (p.Glu1124Asp) c.3387G>T (p.Glu1129Asp) c.2961G>T (p.Glu987Asp) | |
| 1 | g.169541718C>G | CA343118269 | F5 | c.3372G>C (p.Glu1124Asp) c.3387G>C (p.Glu1129Asp) c.2961G>C (p.Glu987Asp) | |
| 1 | g.169541718C>T | CA421930514 | F5 | c.3372G>A (p.Glu1124=) c.3387G>A (p.Glu1129=) c.2961G>A (p.Glu987=) | |
| 1 | g.169541719T>A | CA343118271 | F5 | c.3371A>T (p.Glu1124Val) c.3386A>T (p.Glu1129Val) c.2960A>T (p.Glu987Val) | |
| 1 | g.169541719T>C | CA343118273 | F5 | c.3371A>G (p.Glu1124Gly) c.3386A>G (p.Glu1129Gly) c.2960A>G (p.Glu987Gly) | |
| 1 | g.169541719T>G | CA343118276 | F5 | c.3371A>C (p.Glu1124Ala) c.3386A>C (p.Glu1129Ala) c.2960A>C (p.Glu987Ala) | |
| 1 | g.169541720C>A | CA343118279 | F5 | c.3370G>T (p.Glu1124Ter) c.3385G>T (p.Glu1129Ter) c.2959G>T (p.Glu987Ter) | |
| 1 | g.169541720C>G | CA343118281 | F5 | c.3370G>C (p.Glu1124Gln) c.3385G>C (p.Glu1129Gln) c.2959G>C (p.Glu987Gln) | dbSNP |
| 1 | g.169541720C>T | CA343118285 | F5 | c.3370G>A (p.Glu1124Lys) c.3385G>A (p.Glu1129Lys) c.2959G>A (p.Glu987Lys) | |
| 1 | g.169541721T>A | CA421930519 | F5 | c.3369A>T (p.Pro1123=) c.3384A>T (p.Pro1128=) c.2958A>T (p.Pro986=) | |
| 1 | g.169541721T>C | CA421930521 | F5 | c.3369A>G (p.Pro1123=) c.3384A>G (p.Pro1128=) c.2958A>G (p.Pro986=) | gnomAD v4 |
| 1 | g.169541721T>G | CA421930522 | F5 | c.3369A>C (p.Pro1123=) c.3384A>C (p.Pro1128=) c.2958A>C (p.Pro986=) | gnomAD v4 |
| 1 | g.169541722G>A | CA1233924 | F5 | c.3368C>T (p.Pro1123Leu) c.3383C>T (p.Pro1128Leu) c.2957C>T (p.Pro986Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541722G>C | CA1233923 | F5 | c.3368C>G (p.Pro1123Arg) c.3383C>G (p.Pro1128Arg) c.2957C>G (p.Pro986Arg) | dbSNP ExAC gnomAD v2 |
| 1 | g.169541722G= | CA1206132383 | F5 | c.3368C= (p.Pro1123=) c.3383C= (p.Pro1128=) c.2957C= (p.Pro986=) | |
| 1 | g.169541722G>T | CA343118288 | F5 | c.3368C>A (p.Pro1123Gln) c.3383C>A (p.Pro1128Gln) c.2957C>A (p.Pro986Gln) | |
| 1 | g.169541723G>A | CA343118294 | F5 | c.3367C>T (p.Pro1123Ser) c.3382C>T (p.Pro1128Ser) c.2956C>T (p.Pro986Ser) | dbSNP |
| 1 | g.169541723G>C | CA343118297 | F5 | c.3367C>G (p.Pro1123Ala) c.3382C>G (p.Pro1128Ala) c.2956C>G (p.Pro986Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541723G= | CA1206132386 | F5 | c.3367C= (p.Pro1123=) c.3382C= (p.Pro1128=) c.2956C= (p.Pro986=) | |
| 1 | g.169541723G>T | CA343118301 | F5 | c.3367C>A (p.Pro1123Thr) c.3382C>A (p.Pro1128Thr) c.2956C>A (p.Pro986Thr) | |
| 1 | g.169541724G>A | CA421930525 | F5 | c.3366C>T (p.Pro1122=) c.3381C>T (p.Pro1127=) c.2955C>T (p.Pro985=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541724G>C | CA421930526 | F5 | c.3366C>G (p.Pro1122=) c.3381C>G (p.Pro1127=) c.2955C>G (p.Pro985=) | |
| 1 | g.169541724G= | CA1206132388 | F5 | c.3366C= (p.Pro1122=) c.3381C= (p.Pro1127=) c.2955C= (p.Pro985=) | |
| 1 | g.169541724G>T | CA1233925 | F5 | c.3366C>A (p.Pro1122=) c.3381C>A (p.Pro1127=) c.2955C>A (p.Pro985=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541725G>A | CA1233926 | F5 | c.3365C>T (p.Pro1122Leu) c.3380C>T (p.Pro1127Leu) c.2954C>T (p.Pro985Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541725G>C | CA343118307 | F5 | c.3365C>G (p.Pro1122Arg) c.3380C>G (p.Pro1127Arg) c.2954C>G (p.Pro985Arg) | gnomAD v4 |
| 1 | g.169541725G= | CA1206132390 | F5 | c.3365C= (p.Pro1122=) c.3380C= (p.Pro1127=) c.2954C= (p.Pro985=) | |
| 1 | g.169541725G>T | CA343118305 | F5 | c.3365C>A (p.Pro1122His) c.3380C>A (p.Pro1127His) c.2954C>A (p.Pro985His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541726G>A | CA1233927 | F5 | c.3364C>T (p.Pro1122Ser) c.3379C>T (p.Pro1127Ser) c.2953C>T (p.Pro985Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541726G>C | CA343118313 | F5 | c.3364C>G (p.Pro1122Ala) c.3379C>G (p.Pro1127Ala) c.2953C>G (p.Pro985Ala) | |
| 1 | g.169541726G= | CA1142762155 | F5 | c.3364C= (p.Pro1122=) c.3379C= (p.Pro1127=) c.2953C= (p.Pro985=) | |
| 1 | g.169541726G>T | CA343118315 | F5 | c.3364C>A (p.Pro1122Thr) c.3379C>A (p.Pro1127Thr) c.2953C>A (p.Pro985Thr) | |
| 1 | g.169541727C>A | CA32385330 | F5 | c.3363G>T (p.Val1121=) c.3378G>T (p.Val1126=) c.2952G>T (p.Val984=) | dbSNP gnomAD v4 |
| 1 | g.169541727C= | CA1206132396 | F5 | c.3363G= (p.Val1121=) c.3378G= (p.Val1126=) c.2952G= (p.Val984=) | |
| 1 | g.169541727C>G | CA421930531 | F5 | c.3363G>C (p.Val1121=) c.3378G>C (p.Val1126=) c.2952G>C (p.Val984=) | |
| 1 | g.169541727C>T | CA421930530 | F5 | c.3363G>A (p.Val1121=) c.3378G>A (p.Val1126=) c.2952G>A (p.Val984=) | |
| 1 | g.169541728A>C | CA343118319 | F5 | c.3362T>G (p.Val1121Gly) c.3377T>G (p.Val1126Gly) c.2951T>G (p.Val984Gly) | gnomAD v4 |
| 1 | g.169541728A>G | CA343118320 | F5 | c.3362T>C (p.Val1121Ala) c.3377T>C (p.Val1126Ala) c.2951T>C (p.Val984Ala) | |
| 1 | g.169541728A>T | CA343118324 | F5 | c.3362T>A (p.Val1121Glu) c.3377T>A (p.Val1126Glu) c.2951T>A (p.Val984Glu) | |
| 1 | g.169541729C>A | CA343118325 | F5 | c.3361G>T (p.Val1121Leu) c.3376G>T (p.Val1126Leu) c.2950G>T (p.Val984Leu) | |
| 1 | g.169541729C= | CA1206132400 | F5 | c.3361G= (p.Val1121=) c.3376G= (p.Val1126=) c.2950G= (p.Val984=) | |
| 1 | g.169541729C>G | CA343118331 | F5 | c.3361G>C (p.Val1121Leu) c.3376G>C (p.Val1126Leu) c.2950G>C (p.Val984Leu) | ClinVar gnomAD v4 |
| 1 | g.169541729C>T | CA343118327 | F5 | c.3361G>A (p.Val1121Met) c.3376G>A (p.Val1126Met) c.2950G>A (p.Val984Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541730T>A | CA421930538 | F5 | c.3360A>T (p.Thr1120=) c.3375A>T (p.Thr1125=) c.2949A>T (p.Thr983=) | |
| 1 | g.169541730T>C | CA421930539 | F5 | c.3360A>G (p.Thr1120=) c.3375A>G (p.Thr1125=) c.2949A>G (p.Thr983=) | dbSNP gnomAD v2 |
| 1 | g.169541730T>G | CA421930540 | F5 | c.3360A>C (p.Thr1120=) c.3375A>C (p.Thr1125=) c.2949A>C (p.Thr983=) | |
| 1 | g.169541730T= | CA1206132402 | F5 | c.3360A= (p.Thr1120=) c.3375A= (p.Thr1125=) c.2949A= (p.Thr983=) | |
| 1 | g.169541731G>A | CA1233928 | F5 | c.3359C>T (p.Thr1120Ile) c.3374C>T (p.Thr1125Ile) c.2948C>T (p.Thr983Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541731G>C | CA343118334 | F5 | c.3359C>G (p.Thr1120Arg) c.3374C>G (p.Thr1125Arg) c.2948C>G (p.Thr983Arg) | gnomAD v4 |
| 1 | g.169541731G= | CA1206132405 | F5 | c.3359C= (p.Thr1120=) c.3374C= (p.Thr1125=) c.2948C= (p.Thr983=) | |
| 1 | g.169541731G>T | CA343118336 | F5 | c.3359C>A (p.Thr1120Lys) c.3374C>A (p.Thr1125Lys) c.2948C>A (p.Thr983Lys) | |
| 1 | g.169541732T>A | CA343118338 | F5 | c.3358A>T (p.Thr1120Ser) c.3373A>T (p.Thr1125Ser) c.2947A>T (p.Thr983Ser) | |
| 1 | g.169541732T>C | CA343118341 | F5 | c.3358A>G (p.Thr1120Ala) c.3373A>G (p.Thr1125Ala) c.2947A>G (p.Thr983Ala) | gnomAD v4 |
| 1 | g.169541732T>G | CA343118343 | F5 | c.3358A>C (p.Thr1120Pro) c.3373A>C (p.Thr1125Pro) c.2947A>C (p.Thr983Pro) | |
| 1 | g.169541733C>A | CA343118346 | F5 | c.3357G>T (p.Gln1119His) c.3372G>T (p.Gln1124His) c.2946G>T (p.Gln982His) | |
| 1 | g.169541733C>G | CA343118348 | F5 | c.3357G>C (p.Gln1119His) c.3372G>C (p.Gln1124His) c.2946G>C (p.Gln982His) | gnomAD v4 |
| 1 | g.169541733C>T | CA421930543 | F5 | c.3357G>A (p.Gln1119=) c.3372G>A (p.Gln1124=) c.2946G>A (p.Gln982=) | |
| 1 | g.169541734T>A | CA343118351 | F5 | c.3356A>T (p.Gln1119Leu) c.3371A>T (p.Gln1124Leu) c.2945A>T (p.Gln982Leu) | |
| 1 | g.169541734T>C | CA343118354 | F5 | c.3356A>G (p.Gln1119Arg) c.3371A>G (p.Gln1124Arg) c.2945A>G (p.Gln982Arg) | |
| 1 | g.169541734T>G | CA343118356 | F5 | c.3356A>C (p.Gln1119Pro) c.3371A>C (p.Gln1124Pro) c.2945A>C (p.Gln982Pro) | dbSNP |
| 1 | g.169541734T= | CA1206132407 | F5 | c.3356A= (p.Gln1119=) c.3371A= (p.Gln1124=) c.2945A= (p.Gln982=) | |
| 1 | g.169541735G>A | CA343118366 | F5 | c.3355C>T (p.Gln1119Ter) c.3370C>T (p.Gln1124Ter) c.2944C>T (p.Gln982Ter) | COSMIC |
| 1 | g.169541735G>C | CA343118361 | F5 | c.3355C>G (p.Gln1119Glu) c.3370C>G (p.Gln1124Glu) c.2944C>G (p.Gln982Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541735G= | CA1206132409 | F5 | c.3355C= (p.Gln1119=) c.3370C= (p.Gln1124=) c.2944C= (p.Gln982=) | |
| 1 | g.169541735G>T | CA343118358 | F5 | c.3355C>A (p.Gln1119Lys) c.3370C>A (p.Gln1124Lys) c.2944C>A (p.Gln982Lys) | |
| 1 | g.169541736A>C | CA343118369 | F5 | c.3354T>G (p.Tyr1118Ter) c.3369T>G (p.Tyr1123Ter) c.2943T>G (p.Tyr981Ter) | |
| 1 | g.169541736A>G | CA421930545 | F5 | c.3354T>C (p.Tyr1118=) c.3369T>C (p.Tyr1123=) c.2943T>C (p.Tyr981=) | |
| 1 | g.169541736A>T | CA343118371 | F5 | c.3354T>A (p.Tyr1118Ter) c.3369T>A (p.Tyr1123Ter) c.2943T>A (p.Tyr981Ter) | |
| 1 | g.169541737T>A | CA343118374 | F5 | c.3353A>T (p.Tyr1118Phe) c.3368A>T (p.Tyr1123Phe) c.2942A>T (p.Tyr981Phe) | |
| 1 | g.169541737T>C | CA343118375 | F5 | c.3353A>G (p.Tyr1118Cys) c.3368A>G (p.Tyr1123Cys) c.2942A>G (p.Tyr981Cys) | |
| 1 | g.169541737T>G | CA343118376 | F5 | c.3353A>C (p.Tyr1118Ser) c.3368A>C (p.Tyr1123Ser) c.2942A>C (p.Tyr981Ser) | |
| 1 | g.169541738A>C | CA343118377 | F5 | c.3352T>G (p.Tyr1118Asp) c.3367T>G (p.Tyr1123Asp) c.2941T>G (p.Tyr981Asp) | |
| 1 | g.169541738A>G | CA343118378 | F5 | c.3352T>C (p.Tyr1118His) c.3367T>C (p.Tyr1123His) c.2941T>C (p.Tyr981His) | |
| 1 | g.169541738A>T | CA343118379 | F5 | c.3352T>A (p.Tyr1118Asn) c.3367T>A (p.Tyr1123Asn) c.2941T>A (p.Tyr981Asn) | |
| 1 | g.169541740dup | CA2649035352 | F5 | c.3352dup (p.Tyr1118LeufsTer19) c.3367dup (p.Tyr1123LeufsTer19) c.2941dup (p.Tyr981LeufsTer19) | gnomAD v4 |
| 1 | g.169541739A>C | CA421930550 | F5 | c.3351T>G (p.Leu1117=) c.3366T>G (p.Leu1122=) c.2940T>G (p.Leu980=) | |
| 1 | g.169541739A>G | CA421930552 | F5 | c.3351T>C (p.Leu1117=) c.3366T>C (p.Leu1122=) c.2940T>C (p.Leu980=) | |
| 1 | g.169541739A>T | CA421930551 | F5 | c.3351T>A (p.Leu1117=) c.3366T>A (p.Leu1122=) c.2940T>A (p.Leu980=) | |
| 1 | g.169541740A>C | CA343118381 | F5 | c.3350T>G (p.Leu1117Arg) c.3365T>G (p.Leu1122Arg) c.2939T>G (p.Leu980Arg) | |
| 1 | g.169541740A>G | CA343118382 | F5 | c.3350T>C (p.Leu1117Pro) c.3365T>C (p.Leu1122Pro) c.2939T>C (p.Leu980Pro) | |
| 1 | g.169541740A>T | CA343118384 | F5 | c.3350T>A (p.Leu1117His) c.3365T>A (p.Leu1122His) c.2939T>A (p.Leu980His) | |
| 1 | g.169541741G>A | CA343118386 | F5 | c.3349C>T (p.Leu1117Phe) c.3364C>T (p.Leu1122Phe) c.2938C>T (p.Leu980Phe) | COSMIC |
| 1 | g.169541741G>C | CA343118392 | F5 | c.3349C>G (p.Leu1117Val) c.3364C>G (p.Leu1122Val) c.2938C>G (p.Leu980Val) | |
| 1 | g.169541741G>T | CA343118395 | F5 | c.3349C>A (p.Leu1117Ile) c.3364C>A (p.Leu1122Ile) c.2938C>A (p.Leu980Ile) | dbSNP |
| 1 | g.169541742A= | CA1206132412 | F5 | c.3348T= (p.Gly1116=) c.3363T= (p.Gly1121=) c.2937T= (p.Gly979=) | |
| 1 | g.169541742A>C | CA421930557 | F5 | c.3348T>G (p.Gly1116=) c.3363T>G (p.Gly1121=) c.2937T>G (p.Gly979=) | |
| 1 | g.169541742A>G | CA421930559 | F5 | c.3348T>C (p.Gly1116=) c.3363T>C (p.Gly1121=) c.2937T>C (p.Gly979=) | |
| 1 | g.169541742A>T | CA421930560 | F5 | c.3348T>A (p.Gly1116=) c.3363T>A (p.Gly1121=) c.2937T>A (p.Gly979=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541743C>A | CA343118402 | F5 | c.3347G>T (p.Gly1116Val) c.3362G>T (p.Gly1121Val) c.2936G>T (p.Gly979Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541743C= | CA1206132415 | F5 | c.3347G= (p.Gly1116=) c.3362G= (p.Gly1121=) c.2936G= (p.Gly979=) | |
| 1 | g.169541743C>G | CA343118401 | F5 | c.3347G>C (p.Gly1116Ala) c.3362G>C (p.Gly1121Ala) c.2936G>C (p.Gly979Ala) | |
| 1 | g.169541743C>T | CA343118398 | F5 | c.3347G>A (p.Gly1116Asp) c.3362G>A (p.Gly1121Asp) c.2936G>A (p.Gly979Asp) | |
| 1 | g.169541744C>A | CA343118405 | F5 | c.3346G>T (p.Gly1116Cys) c.3361G>T (p.Gly1121Cys) c.2935G>T (p.Gly979Cys) | |
| 1 | g.169541744C>G | CA343118410 | F5 | c.3346G>C (p.Gly1116Arg) c.3361G>C (p.Gly1121Arg) c.2935G>C (p.Gly979Arg) | gnomAD v4 |
| 1 | g.169541744C>T | CA343118412 | F5 | c.3346G>A (p.Gly1116Ser) c.3361G>A (p.Gly1121Ser) c.2935G>A (p.Gly979Ser) | |
| 1 | g.169541745T>A | CA421930563 | F5 | c.3345A>T (p.Pro1115=) c.3360A>T (p.Pro1120=) c.2934A>T (p.Pro978=) | |
| 1 | g.169541745T>C | CA32385333 | F5 | c.3345A>G (p.Pro1115=) c.3360A>G (p.Pro1120=) c.2934A>G (p.Pro978=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541745T>G | CA421930564 | F5 | c.3345A>C (p.Pro1115=) c.3360A>C (p.Pro1120=) c.2934A>C (p.Pro978=) | |
| 1 | g.169541745T= | CA1206132416 | F5 | c.3345A= (p.Pro1115=) c.3360A= (p.Pro1120=) c.2934A= (p.Pro978=) | |
| 1 | g.169541746G>A | CA1233929 | F5 | c.3344C>T (p.Pro1115Leu) c.3359C>T (p.Pro1120Leu) c.2933C>T (p.Pro978Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541746G>C | CA343118416 | F5 | c.3344C>G (p.Pro1115Arg) c.3359C>G (p.Pro1120Arg) c.2933C>G (p.Pro978Arg) | |
| 1 | g.169541746G= | CA1206132418 | F5 | c.3344C= (p.Pro1115=) c.3359C= (p.Pro1120=) c.2933C= (p.Pro978=) | |
| 1 | g.169541746G>T | CA343118419 | F5 | c.3344C>A (p.Pro1115Gln) c.3359C>A (p.Pro1120Gln) c.2933C>A (p.Pro978Gln) | |
| 1 | g.169541747G>A | CA343118422 | F5 | c.3343C>T (p.Pro1115Ser) c.3358C>T (p.Pro1120Ser) c.2932C>T (p.Pro978Ser) | gnomAD v4 |
| 1 | g.169541747G>C | CA343118425 | F5 | c.3343C>G (p.Pro1115Ala) c.3358C>G (p.Pro1120Ala) c.2932C>G (p.Pro978Ala) | |
| 1 | g.169541747G>T | CA343118427 | F5 | c.3343C>A (p.Pro1115Thr) c.3358C>A (p.Pro1120Thr) c.2932C>A (p.Pro978Thr) | |
| 1 | g.169541748A>C | CA421930571 | F5 | c.3342T>G (p.Pro1114=) c.3357T>G (p.Pro1119=) c.2931T>G (p.Pro977=) | |
| 1 | g.169541748A>G | CA421930568 | F5 | c.3342T>C (p.Pro1114=) c.3357T>C (p.Pro1119=) c.2931T>C (p.Pro977=) | |
| 1 | g.169541748A>T | CA421930570 | F5 | c.3342T>A (p.Pro1114=) c.3357T>A (p.Pro1119=) c.2931T>A (p.Pro977=) | |
| 1 | g.169541749G>A | CA343118429 | F5 | c.3341C>T (p.Pro1114Leu) c.3356C>T (p.Pro1119Leu) c.2930C>T (p.Pro977Leu) | |
| 1 | g.169541749G>C | CA343118431 | F5 | c.3341C>G (p.Pro1114Arg) c.3356C>G (p.Pro1119Arg) c.2930C>G (p.Pro977Arg) | |
| 1 | g.169541749G>T | CA343118433 | F5 | c.3341C>A (p.Pro1114His) c.3356C>A (p.Pro1119His) c.2930C>A (p.Pro977His) | |
| 1 | g.169541750G>A | CA343118440 | F5 | c.3340C>T (p.Pro1114Ser) c.3355C>T (p.Pro1119Ser) c.2929C>T (p.Pro977Ser) | |
| 1 | g.169541750G>C | CA343118438 | F5 | c.3340C>G (p.Pro1114Ala) c.3355C>G (p.Pro1119Ala) c.2929C>G (p.Pro977Ala) | |
| 1 | g.169541750G>T | CA343118435 | F5 | c.3340C>A (p.Pro1114Thr) c.3355C>A (p.Pro1119Thr) c.2929C>A (p.Pro977Thr) | |
| 1 | g.169541751A= | CA1206132419 | F5 | c.3339T= (p.Cys1113=) c.3354T= (p.Cys1118=) c.2928T= (p.Cys976=) | |
| 1 | g.169541751A>C | CA343118443 | F5 | c.3339T>G (p.Cys1113Trp) c.3354T>G (p.Cys1118Trp) c.2928T>G (p.Cys976Trp) | |
| 1 | g.169541751A>G | CA421930574 | F5 | c.3339T>C (p.Cys1113=) c.3354T>C (p.Cys1118=) c.2928T>C (p.Cys976=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541751A>T | CA343118448 | F5 | c.3339T>A (p.Cys1113Ter) c.3354T>A (p.Cys1118Ter) c.2928T>A (p.Cys976Ter) | |
| 1 | g.169541752C>A | CA343118449 | F5 | c.3338G>T (p.Cys1113Phe) c.3353G>T (p.Cys1118Phe) c.2927G>T (p.Cys976Phe) | |
| 1 | g.169541752C>G | CA343118450 | F5 | c.3338G>C (p.Cys1113Ser) c.3353G>C (p.Cys1118Ser) c.2927G>C (p.Cys976Ser) | |
| 1 | g.169541752C>T | CA343118451 | F5 | c.3338G>A (p.Cys1113Tyr) c.3353G>A (p.Cys1118Tyr) c.2927G>A (p.Cys976Tyr) | |
| 1 | g.169541753A>C | CA343118452 | F5 | c.3337T>G (p.Cys1113Gly) c.3352T>G (p.Cys1118Gly) c.2926T>G (p.Cys976Gly) | |
| 1 | g.169541753A>G | CA343118454 | F5 | c.3337T>C (p.Cys1113Arg) c.3352T>C (p.Cys1118Arg) c.2926T>C (p.Cys976Arg) | |
| 1 | g.169541753A>T | CA343118456 | F5 | c.3337T>A (p.Cys1113Ser) c.3352T>A (p.Cys1118Ser) c.2926T>A (p.Cys976Ser) | |
| 1 | g.169541754G>A | CA421930578 | F5 | c.3336C>T (p.Ser1112=) c.3351C>T (p.Ser1117=) c.2925C>T (p.Ser975=) | gnomAD v4 |
| 1 | g.169541754G>C | CA343118458 | F5 | c.3336C>G (p.Ser1112Arg) c.3351C>G (p.Ser1117Arg) c.2925C>G (p.Ser975Arg) | |
| 1 | g.169541754G>T | CA343118465 | F5 | c.3336C>A (p.Ser1112Arg) c.3351C>A (p.Ser1117Arg) c.2925C>A (p.Ser975Arg) | |
| 1 | g.169541755C>A | CA343118467 | F5 | c.3335G>T (p.Ser1112Ile) c.3350G>T (p.Ser1117Ile) c.2924G>T (p.Ser975Ile) | |
| 1 | g.169541755C>G | CA343118470 | F5 | c.3335G>C (p.Ser1112Thr) c.3350G>C (p.Ser1117Thr) c.2924G>C (p.Ser975Thr) | ClinVar |
| 1 | g.169541755C>T | CA343118473 | F5 | c.3335G>A (p.Ser1112Asn) c.3350G>A (p.Ser1117Asn) c.2924G>A (p.Ser975Asn) | dbSNP gnomAD v4 |
| 1 | g.169541756T>A | CA343118480 | F5 | c.3334A>T (p.Ser1112Cys) c.3349A>T (p.Ser1117Cys) c.2923A>T (p.Ser975Cys) | |
| 1 | g.169541756T>C | CA343118476 | F5 | c.3334A>G (p.Ser1112Gly) c.3349A>G (p.Ser1117Gly) c.2923A>G (p.Ser975Gly) | gnomAD v4 |
| 1 | g.169541756T>G | CA343118478 | F5 | c.3334A>C (p.Ser1112Arg) c.3349A>C (p.Ser1117Arg) c.2923A>C (p.Ser975Arg) | |
| 1 | g.169541757T>A | CA421930584 | F5 | c.3333A>T (p.Ala1111=) c.3348A>T (p.Ala1116=) c.2922A>T (p.Ala974=) | |
| 1 | g.169541757T>C | CA421930586 | F5 | c.3333A>G (p.Ala1111=) c.3348A>G (p.Ala1116=) c.2922A>G (p.Ala974=) | |
| 1 | g.169541757T>G | CA421930588 | F5 | c.3333A>C (p.Ala1111=) c.3348A>C (p.Ala1116=) c.2922A>C (p.Ala974=) | |
| 1 | g.169541758G>A | CA343118483 | F5 | c.3332C>T (p.Ala1111Val) c.3347C>T (p.Ala1116Val) c.2921C>T (p.Ala974Val) | |
| 1 | g.169541758G>C | CA343118485 | F5 | c.3332C>G (p.Ala1111Gly) c.3347C>G (p.Ala1116Gly) c.2921C>G (p.Ala974Gly) | |
| 1 | g.169541758G>T | CA343118487 | F5 | c.3332C>A (p.Ala1111Glu) c.3347C>A (p.Ala1116Glu) c.2921C>A (p.Ala974Glu) | |
| 1 | g.169541759C>A | CA343118490 | F5 | c.3331G>T (p.Ala1111Ser) c.3346G>T (p.Ala1116Ser) c.2920G>T (p.Ala974Ser) | |
| 1 | g.169541759C= | CA1206132420 | F5 | c.3331G= (p.Ala1111=) c.3346G= (p.Ala1116=) c.2920G= (p.Ala974=) | |
| 1 | g.169541759C>G | CA343118492 | F5 | c.3331G>C (p.Ala1111Pro) c.3346G>C (p.Ala1116Pro) c.2920G>C (p.Ala974Pro) | |
| 1 | g.169541759C>T | CA343118493 | F5 | c.3331G>A (p.Ala1111Thr) c.3346G>A (p.Ala1116Thr) c.2920G>A (p.Ala974Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541760C>A | CA343118496 | F5 | c.3330G>T (p.Gln1110His) c.3345G>T (p.Gln1115His) c.2919G>T (p.Gln973His) | |
| 1 | g.169541760C>G | CA343118499 | F5 | c.3330G>C (p.Gln1110His) c.3345G>C (p.Gln1115His) c.2919G>C (p.Gln973His) | |
| 1 | g.169541760C>T | CA421930594 | F5 | c.3330G>A (p.Gln1110=) c.3345G>A (p.Gln1115=) c.2919G>A (p.Gln973=) | |
| 1 | g.169541761T>A | CA343118501 | F5 | c.3329A>T (p.Gln1110Leu) c.3344A>T (p.Gln1115Leu) c.2918A>T (p.Gln973Leu) | |
| 1 | g.169541761T>C | CA343118502 | F5 | c.3329A>G (p.Gln1110Arg) c.3344A>G (p.Gln1115Arg) c.2918A>G (p.Gln973Arg) | dbSNP |
| 1 | g.169541761T>G | CA343118506 | F5 | c.3329A>C (p.Gln1110Pro) c.3344A>C (p.Gln1115Pro) c.2918A>C (p.Gln973Pro) | |
| 1 | g.169541761T= | CA1206132423 | F5 | c.3329A= (p.Gln1110=) c.3344A= (p.Gln1115=) c.2918A= (p.Gln973=) | |
| 1 | g.169541762G>A | CA343118512 | F5 | c.3328C>T (p.Gln1110Ter) c.3343C>T (p.Gln1115Ter) c.2917C>T (p.Gln973Ter) | |
| 1 | g.169541762G>C | CA32385336 | F5 | c.3328C>G (p.Gln1110Glu) c.3343C>G (p.Gln1115Glu) c.2917C>G (p.Gln973Glu) | dbSNP gnomAD v4 |
| 1 | g.169541762G= | CA1143972055 | F5 | c.3328C= (p.Gln1110=) c.3343C= (p.Gln1115=) c.2917C= (p.Gln973=) | |
| 1 | g.169541762G>T | CA343118509 | F5 | c.3328C>A (p.Gln1110Lys) c.3343C>A (p.Gln1115Lys) c.2917C>A (p.Gln973Lys) | gnomAD v4 |
| 1 | g.169541763A= | CA1206132430 | F5 | c.3327T= (p.Gly1109=) c.3342T= (p.Gly1114=) c.2916T= (p.Gly972=) | |
| 1 | g.169541763A>C | CA421930598 | F5 | c.3327T>G (p.Gly1109=) c.3342T>G (p.Gly1114=) c.2916T>G (p.Gly972=) | |
| 1 | g.169541763A>G | CA32385338 | F5 | c.3327T>C (p.Gly1109=) c.3342T>C (p.Gly1114=) c.2916T>C (p.Gly972=) | dbSNP gnomAD v4 |
| 1 | g.169541763A>T | CA421930602 | F5 | c.3327T>A (p.Gly1109=) c.3342T>A (p.Gly1114=) c.2916T>A (p.Gly972=) | |
| 1 | g.169541764C>A | CA1233930 | F5 | c.3326G>T (p.Gly1109Val) c.3341G>T (p.Gly1114Val) c.2915G>T (p.Gly972Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541764C= | CA1206132433 | F5 | c.3326G= (p.Gly1109=) c.3341G= (p.Gly1114=) c.2915G= (p.Gly972=) | |
| 1 | g.169541764C>G | CA343118516 | F5 | c.3326G>C (p.Gly1109Ala) c.3341G>C (p.Gly1114Ala) c.2915G>C (p.Gly972Ala) | COSMIC |
| 1 | g.169541764C>T | CA343118514 | F5 | c.3326G>A (p.Gly1109Asp) c.3341G>A (p.Gly1114Asp) c.2915G>A (p.Gly972Asp) | |
| 1 | g.169541765C>A | CA343118517 | F5 | c.3325G>T (p.Gly1109Cys) c.3340G>T (p.Gly1114Cys) c.2914G>T (p.Gly972Cys) | |
| 1 | g.169541765C= | CA1142250363 | F5 | c.3325G= (p.Gly1109=) c.3340G= (p.Gly1114=) c.2914G= (p.Gly972=) | |
| 1 | g.169541765C>G | CA343118519 | F5 | c.3325G>C (p.Gly1109Arg) c.3340G>C (p.Gly1114Arg) c.2914G>C (p.Gly972Arg) | |
| 1 | g.169541765C>T | CA1233931 | F5 | c.3325G>A (p.Gly1109Ser) c.3340G>A (p.Gly1114Ser) c.2914G>A (p.Gly972Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541766A>C | CA421930604 | F5 | c.3324T>G (p.Thr1108=) c.3339T>G (p.Thr1113=) c.2913T>G (p.Thr971=) | |
| 1 | g.169541766A>G | CA421930605 | F5 | c.3324T>C (p.Thr1108=) c.3339T>C (p.Thr1113=) c.2913T>C (p.Thr971=) | |
| 1 | g.169541766A>T | CA421930606 | F5 | c.3324T>A (p.Thr1108=) c.3339T>A (p.Thr1113=) c.2913T>A (p.Thr971=) | |
| 1 | g.169541767G>A | CA343118521 | F5 | c.3323C>T (p.Thr1108Ile) c.3338C>T (p.Thr1113Ile) c.2912C>T (p.Thr971Ile) | gnomAD v4 |
| 1 | g.169541767G>C | CA343118522 | F5 | c.3323C>G (p.Thr1108Ser) c.3338C>G (p.Thr1113Ser) c.2912C>G (p.Thr971Ser) | |
| 1 | g.169541767G= | CA1206132436 | F5 | c.3323C= (p.Thr1108=) c.3338C= (p.Thr1113=) c.2912C= (p.Thr971=) | |
| 1 | g.169541767G>T | CA343118523 | F5 | c.3323C>A (p.Thr1108Asn) c.3338C>A (p.Thr1113Asn) c.2912C>A (p.Thr971Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541768del | CA2697554642 | F5 | c.3322del (p.Thr1108LeufsTer?) c.3337del (p.Thr1113LeufsTer?) c.2911del (p.Thr971LeufsTer?) | ClinVar |
| 1 | g.169541768T>A | CA343118524 | F5 | c.3322A>T (p.Thr1108Ser) c.3337A>T (p.Thr1113Ser) c.2911A>T (p.Thr971Ser) | |
| 1 | g.169541768T>C | CA343118525 | F5 | c.3322A>G (p.Thr1108Ala) c.3337A>G (p.Thr1113Ala) c.2911A>G (p.Thr971Ala) | |
| 1 | g.169541768T>G | CA343118527 | F5 | c.3322A>C (p.Thr1108Pro) c.3337A>C (p.Thr1113Pro) c.2911A>C (p.Thr971Pro) | |
| 1 | g.169541769G>A | CA421930610 | F5 | c.3321C>T (p.Asp1107=) c.3336C>T (p.Asp1112=) c.2910C>T (p.Asp970=) | |
| 1 | g.169541769G>C | CA343118529 | F5 | c.3321C>G (p.Asp1107Glu) c.3336C>G (p.Asp1112Glu) c.2910C>G (p.Asp970Glu) | gnomAD v4 |
| 1 | g.169541769G>T | CA343118533 | F5 | c.3321C>A (p.Asp1107Glu) c.3336C>A (p.Asp1112Glu) c.2910C>A (p.Asp970Glu) | |
| 1 | g.169541770T>A | CA343118535 | F5 | c.3320A>T (p.Asp1107Val) c.3335A>T (p.Asp1112Val) c.2909A>T (p.Asp970Val) | |
| 1 | g.169541770T>C | CA343118537 | F5 | c.3320A>G (p.Asp1107Gly) c.3335A>G (p.Asp1112Gly) c.2909A>G (p.Asp970Gly) | |
| 1 | g.169541770T>G | CA343118538 | F5 | c.3320A>C (p.Asp1107Ala) c.3335A>C (p.Asp1112Ala) c.2909A>C (p.Asp970Ala) | |
| 1 | g.169541771C>A | CA343118548 | F5 | c.3319G>T (p.Asp1107Tyr) c.3334G>T (p.Asp1112Tyr) c.2908G>T (p.Asp970Tyr) | |
| 1 | g.169541771C= | CA1206132438 | F5 | c.3319G= (p.Asp1107=) c.3334G= (p.Asp1112=) c.2908G= (p.Asp970=) | |
| 1 | g.169541771C>G | CA1233932 | F5 | c.3319G>C (p.Asp1107His) c.3334G>C (p.Asp1112His) c.2908G>C (p.Asp970His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541771C>T | CA343118540 | F5 | c.3319G>A (p.Asp1107Asn) c.3334G>A (p.Asp1112Asn) c.2908G>A (p.Asp970Asn) | |
| 1 | g.169541772A>C | CA343118550 | F5 | c.3318T>G (p.Asn1106Lys) c.3333T>G (p.Asn1111Lys) c.2907T>G (p.Asn969Lys) | |
| 1 | g.169541772A>G | CA421930614 | F5 | c.3318T>C (p.Asn1106=) c.3333T>C (p.Asn1111=) c.2907T>C (p.Asn969=) | gnomAD v4 |
| 1 | g.169541772A>T | CA343118552 | F5 | c.3318T>A (p.Asn1106Lys) c.3333T>A (p.Asn1111Lys) c.2907T>A (p.Asn969Lys) | |
| 1 | g.169541773T>A | CA343118554 | F5 | c.3317A>T (p.Asn1106Ile) c.3332A>T (p.Asn1111Ile) c.2906A>T (p.Asn969Ile) | |
| 1 | g.169541773T>C | CA343118555 | F5 | c.3317A>G (p.Asn1106Ser) c.3332A>G (p.Asn1111Ser) c.2906A>G (p.Asn969Ser) | gnomAD v4 |
| 1 | g.169541773T>G | CA343118557 | F5 | c.3317A>C (p.Asn1106Thr) c.3332A>C (p.Asn1111Thr) c.2906A>C (p.Asn969Thr) | |
| 1 | g.169541774T>A | CA343118558 | F5 | c.3316A>T (p.Asn1106Tyr) c.3331A>T (p.Asn1111Tyr) c.2905A>T (p.Asn969Tyr) | |
| 1 | g.169541774T>C | CA343118560 | F5 | c.3316A>G (p.Asn1106Asp) c.3331A>G (p.Asn1111Asp) c.2905A>G (p.Asn969Asp) | gnomAD v4 |
| 1 | g.169541774T>G | CA343118561 | F5 | c.3316A>C (p.Asn1106His) c.3331A>C (p.Asn1111His) c.2905A>C (p.Asn969His) | |
| 1 | g.169541775T>A | CA421930616 | F5 | c.3315A>T (p.Ser1105=) c.3330A>T (p.Ser1110=) c.2904A>T (p.Ser968=) | |
| 1 | g.169541775T>C | CA421930618 | F5 | c.3315A>G (p.Ser1105=) c.3330A>G (p.Ser1110=) c.2904A>G (p.Ser968=) | |
| 1 | g.169541775T>G | CA421930617 | F5 | c.3315A>C (p.Ser1105=) c.3330A>C (p.Ser1110=) c.2904A>C (p.Ser968=) | |
| 1 | g.169541776G>A | CA343118563 | F5 | c.3314C>T (p.Ser1105Leu) c.3329C>T (p.Ser1110Leu) c.2903C>T (p.Ser968Leu) | |
| 1 | g.169541776G>C | CA343118564 | F5 | c.3314C>G (p.Ser1105Ter) c.3329C>G (p.Ser1110Ter) c.2903C>G (p.Ser968Ter) | |
| 1 | g.169541776G>T | CA343118566 | F5 | c.3314C>A (p.Ser1105Ter) c.3329C>A (p.Ser1110Ter) c.2903C>A (p.Ser968Ter) | |
| 1 | g.169541777A>C | CA343118572 | F5 | c.3313T>G (p.Ser1105Ala) c.3328T>G (p.Ser1110Ala) c.2902T>G (p.Ser968Ala) | |
| 1 | g.169541777A>G | CA343118570 | F5 | c.3313T>C (p.Ser1105Pro) c.3328T>C (p.Ser1110Pro) c.2902T>C (p.Ser968Pro) | |
| 1 | g.169541777A>T | CA343118568 | F5 | c.3313T>A (p.Ser1105Thr) c.3328T>A (p.Ser1110Thr) c.2902T>A (p.Ser968Thr) | |
| 1 | g.169541778G>A | CA421930624 | F5 | c.3312C>T (p.Ser1104=) c.3327C>T (p.Ser1109=) c.2901C>T (p.Ser967=) | ClinVar |
| 1 | g.169541778G>C | CA421930623 | F5 | c.3312C>G (p.Ser1104=) c.3327C>G (p.Ser1109=) c.2901C>G (p.Ser967=) | |
| 1 | g.169541778G>T | CA421930621 | F5 | c.3312C>A (p.Ser1104=) c.3327C>A (p.Ser1109=) c.2901C>A (p.Ser967=) | |
| 1 | g.169541779G>A | CA343118573 | F5 | c.3311C>T (p.Ser1104Phe) c.3326C>T (p.Ser1109Phe) c.2900C>T (p.Ser967Phe) | |
| 1 | g.169541779G>C | CA343118578 | F5 | c.3311C>G (p.Ser1104Cys) c.3326C>G (p.Ser1109Cys) c.2900C>G (p.Ser967Cys) | |
| 1 | g.169541779G= | CA1143028787 | F5 | c.3311C= (p.Ser1104=) c.3326C= (p.Ser1109=) c.2900C= (p.Ser967=) | |
| 1 | g.169541779G>T | CA1233933 | F5 | c.3311C>A (p.Ser1104Tyr) c.3326C>A (p.Ser1109Tyr) c.2900C>A (p.Ser967Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541780A>C | CA343118580 | F5 | c.3310T>G (p.Ser1104Ala) c.3325T>G (p.Ser1109Ala) c.2899T>G (p.Ser967Ala) | |
| 1 | g.169541780A>G | CA343118582 | F5 | c.3310T>C (p.Ser1104Pro) c.3325T>C (p.Ser1109Pro) c.2899T>C (p.Ser967Pro) | |
| 1 | g.169541780A>T | CA343118583 | F5 | c.3310T>A (p.Ser1104Thr) c.3325T>A (p.Ser1109Thr) c.2899T>A (p.Ser967Thr) | |
| 1 | g.169541781A>C | CA343118586 | F5 | c.3309T>G (p.Asn1103Lys) c.3324T>G (p.Asn1108Lys) c.2898T>G (p.Asn966Lys) | |
| 1 | g.169541781A>G | CA421930627 | F5 | c.3309T>C (p.Asn1103=) c.3324T>C (p.Asn1108=) c.2898T>C (p.Asn966=) | |
| 1 | g.169541781A>T | CA343118588 | F5 | c.3309T>A (p.Asn1103Lys) c.3324T>A (p.Asn1108Lys) c.2898T>A (p.Asn966Lys) | |
| 1 | g.169541782T>A | CA343118589 | F5 | c.3308A>T (p.Asn1103Ile) c.3323A>T (p.Asn1108Ile) c.2897A>T (p.Asn966Ile) | |
| 1 | g.169541782T>C | CA343118590 | F5 | c.3308A>G (p.Asn1103Ser) c.3323A>G (p.Asn1108Ser) c.2897A>G (p.Asn966Ser) | COSMIC |
| 1 | g.169541782T>G | CA343118592 | F5 | c.3308A>C (p.Asn1103Thr) c.3323A>C (p.Asn1108Thr) c.2897A>C (p.Asn966Thr) | |
| 1 | g.169541783T>A | CA10608312 | F5 | c.3307A>T (p.Asn1103Tyr) c.3322A>T (p.Asn1108Tyr) c.2896A>T (p.Asn966Tyr) | ClinVar dbSNP |
| 1 | g.169541783T>C | CA343118594 | F5 | c.3307A>G (p.Asn1103Asp) c.3322A>G (p.Asn1108Asp) c.2896A>G (p.Asn966Asp) | gnomAD v4 |
| 1 | g.169541783T>G | CA343118602 | F5 | c.3307A>C (p.Asn1103His) c.3322A>C (p.Asn1108His) c.2896A>C (p.Asn966His) | |
| 1 | g.169541783T= | CA1206132444 | F5 | c.3307A= (p.Asn1103=) c.3322A= (p.Asn1108=) c.2896A= (p.Asn966=) | |
| 1 | g.169541784C>A | CA343118605 | F5 | c.3306G>T (p.Gln1102His) c.3321G>T (p.Gln1107His) c.2895G>T (p.Gln965His) | gnomAD v4 |
| 1 | g.169541784C>G | CA343118606 | F5 | c.3306G>C (p.Gln1102His) c.3321G>C (p.Gln1107His) c.2895G>C (p.Gln965His) | |
| 1 | g.169541784C>T | CA421930632 | F5 | c.3306G>A (p.Gln1102=) c.3321G>A (p.Gln1107=) c.2895G>A (p.Gln965=) | |
| 1 | g.169541785T>A | CA343118609 | F5 | c.3305A>T (p.Gln1102Leu) c.3320A>T (p.Gln1107Leu) c.2894A>T (p.Gln965Leu) | |
| 1 | g.169541785T>C | CA343118610 | F5 | c.3305A>G (p.Gln1102Arg) c.3320A>G (p.Gln1107Arg) c.2894A>G (p.Gln965Arg) | |
| 1 | g.169541785T>G | CA343118612 | F5 | c.3305A>C (p.Gln1102Pro) c.3320A>C (p.Gln1107Pro) c.2894A>C (p.Gln965Pro) | |
| 1 | g.169541786G>A | CA343118614 | F5 | c.3304C>T (p.Gln1102Ter) c.3319C>T (p.Gln1107Ter) c.2893C>T (p.Gln965Ter) | |
| 1 | g.169541786G>C | CA343118616 | F5 | c.3304C>G (p.Gln1102Glu) c.3319C>G (p.Gln1107Glu) c.2893C>G (p.Gln965Glu) | |
| 1 | g.169541786G>T | CA343118618 | F5 | c.3304C>A (p.Gln1102Lys) c.3319C>A (p.Gln1107Lys) c.2893C>A (p.Gln965Lys) | |
| 1 | g.169541787A>C | CA343118620 | F5 | c.3303T>G (p.Asn1101Lys) c.3318T>G (p.Asn1106Lys) c.2892T>G (p.Asn964Lys) | |
| 1 | g.169541787A>G | CA421930637 | F5 | c.3303T>C (p.Asn1101=) c.3318T>C (p.Asn1106=) c.2892T>C (p.Asn964=) | |
| 1 | g.169541787A>T | CA343118622 | F5 | c.3303T>A (p.Asn1101Lys) c.3318T>A (p.Asn1106Lys) c.2892T>A (p.Asn964Lys) | gnomAD v4 |
| 1 | g.169541788T>A | CA343118624 | F5 | c.3302A>T (p.Asn1101Ile) c.3317A>T (p.Asn1106Ile) c.2891A>T (p.Asn964Ile) | |
| 1 | g.169541788T>C | CA343118626 | F5 | c.3302A>G (p.Asn1101Ser) c.3317A>G (p.Asn1106Ser) c.2891A>G (p.Asn964Ser) | |
| 1 | g.169541788T>G | CA343118628 | F5 | c.3302A>C (p.Asn1101Thr) c.3317A>C (p.Asn1106Thr) c.2891A>C (p.Asn964Thr) | |
| 1 | g.169541789T>A | CA343118634 | F5 | c.3301A>T (p.Asn1101Tyr) c.3316A>T (p.Asn1106Tyr) c.2890A>T (p.Asn964Tyr) | gnomAD v4 |
| 1 | g.169541789T>C | CA343118632 | F5 | c.3301A>G (p.Asn1101Asp) c.3316A>G (p.Asn1106Asp) c.2890A>G (p.Asn964Asp) | |
| 1 | g.169541789T>G | CA343118630 | F5 | c.3301A>C (p.Asn1101His) c.3316A>C (p.Asn1106His) c.2890A>C (p.Asn964His) | |
| 1 | g.169541790A>C | CA343118635 | F5 | c.3300T>G (p.His1100Gln) c.3315T>G (p.His1105Gln) c.2889T>G (p.His963Gln) | |
| 1 | g.169541790A>G | CA421930640 | F5 | c.3300T>C (p.His1100=) c.3315T>C (p.His1105=) c.2889T>C (p.His963=) | |
| 1 | g.169541790A>T | CA343118636 | F5 | c.3300T>A (p.His1100Gln) c.3315T>A (p.His1105Gln) c.2889T>A (p.His963Gln) | |
| 1 | g.169541791T>A | CA343118639 | F5 | c.3299A>T (p.His1100Leu) c.3314A>T (p.His1105Leu) c.2888A>T (p.His963Leu) | |
| 1 | g.169541791T>C | CA1233934 | F5 | c.3299A>G (p.His1100Arg) c.3314A>G (p.His1105Arg) c.2888A>G (p.His963Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541791T>G | CA343118641 | F5 | c.3299A>C (p.His1100Pro) c.3314A>C (p.His1105Pro) c.2888A>C (p.His963Pro) | |
| 1 | g.169541791T= | CA1206132450 | F5 | c.3299A= (p.His1100=) c.3314A= (p.His1105=) c.2888A= (p.His963=) | |
| 1 | g.169541792G>A | CA343118643 | F5 | c.3298C>T (p.His1100Tyr) c.3313C>T (p.His1105Tyr) c.2887C>T (p.His963Tyr) | |
| 1 | g.169541792G>C | CA343118645 | F5 | c.3298C>G (p.His1100Asp) c.3313C>G (p.His1105Asp) c.2887C>G (p.His963Asp) | |
| 1 | g.169541792G>T | CA343118646 | F5 | c.3298C>A (p.His1100Asn) c.3313C>A (p.His1105Asn) c.2887C>A (p.His963Asn) | gnomAD v4 |
| 1 | g.169541793G>A | CA421930643 | F5 | c.3297C>T (p.Asp1099=) c.3312C>T (p.Asp1104=) c.2886C>T (p.Asp962=) | |
| 1 | g.169541793G>C | CA343118648 | F5 | c.3297C>G (p.Asp1099Glu) c.3312C>G (p.Asp1104Glu) c.2886C>G (p.Asp962Glu) | |
| 1 | g.169541793G>T | CA343118650 | F5 | c.3297C>A (p.Asp1099Glu) c.3312C>A (p.Asp1104Glu) c.2886C>A (p.Asp962Glu) | |
| 1 | g.169541794del | CA2586964380 | F5 | c.3296del (p.Asp1099AlafsTer?) c.3311del (p.Asp1104AlafsTer?) c.2885del (p.Asp962AlafsTer?) | |
| 1 | g.169541794T>A | CA343118652 | F5 | c.3296A>T (p.Asp1099Val) c.3311A>T (p.Asp1104Val) c.2885A>T (p.Asp962Val) | |
| 1 | g.169541794T>C | CA343118654 | F5 | c.3296A>G (p.Asp1099Gly) c.3311A>G (p.Asp1104Gly) c.2885A>G (p.Asp962Gly) | |
| 1 | g.169541794T>G | CA343118655 | F5 | c.3296A>C (p.Asp1099Ala) c.3311A>C (p.Asp1104Ala) c.2885A>C (p.Asp962Ala) | |
| 1 | g.169541795C>A | CA343118661 | F5 | c.3295G>T (p.Asp1099Tyr) c.3310G>T (p.Asp1104Tyr) c.2884G>T (p.Asp962Tyr) | |
| 1 | g.169541795C>G | CA343118659 | F5 | c.3295G>C (p.Asp1099His) c.3310G>C (p.Asp1104His) c.2884G>C (p.Asp962His) | |
| 1 | g.169541795C>T | CA343118658 | F5 | c.3295G>A (p.Asp1099Asn) c.3310G>A (p.Asp1104Asn) c.2884G>A (p.Asp962Asn) | |
| 1 | g.169541796A>C | CA421930645 | F5 | c.3294T>G (p.Pro1098=) c.3309T>G (p.Pro1103=) c.2883T>G (p.Pro961=) | |
| 1 | g.169541796A>G | CA421930647 | F5 | c.3294T>C (p.Pro1098=) c.3309T>C (p.Pro1103=) c.2883T>C (p.Pro961=) | |
| 1 | g.169541796A>T | CA421930646 | F5 | c.3294T>A (p.Pro1098=) c.3309T>A (p.Pro1103=) c.2883T>A (p.Pro961=) | |
| 1 | g.169541797G>A | CA343118663 | F5 | c.3293C>T (p.Pro1098Leu) c.3308C>T (p.Pro1103Leu) c.2882C>T (p.Pro961Leu) | |
| 1 | g.169541797G>C | CA343118665 | F5 | c.3293C>G (p.Pro1098Arg) c.3308C>G (p.Pro1103Arg) c.2882C>G (p.Pro961Arg) | |
| 1 | g.169541797G>T | CA343118666 | F5 | c.3293C>A (p.Pro1098His) c.3308C>A (p.Pro1103His) c.2882C>A (p.Pro961His) | gnomAD v4 |
| 1 | g.169541798G>A | CA343118668 | F5 | c.3292C>T (p.Pro1098Ser) c.3307C>T (p.Pro1103Ser) c.2881C>T (p.Pro961Ser) | COSMIC |
| 1 | g.169541798G>C | CA343118670 | F5 | c.3292C>G (p.Pro1098Ala) c.3307C>G (p.Pro1103Ala) c.2881C>G (p.Pro961Ala) | |
| 1 | g.169541798G= | CA1206132452 | F5 | c.3292C= (p.Pro1098=) c.3307C= (p.Pro1103=) c.2881C= (p.Pro961=) | |
| 1 | g.169541798G>T | CA343118672 | F5 | c.3292C>A (p.Pro1098Thr) c.3307C>A (p.Pro1103Thr) c.2881C>A (p.Pro961Thr) | dbSNP gnomAD v2 |
| 1 | g.169541799A>C | CA421930651 | F5 | c.3291T>G (p.Leu1097=) c.3306T>G (p.Leu1102=) c.2880T>G (p.Leu960=) | |
| 1 | g.169541799A>G | CA421930652 | F5 | c.3291T>C (p.Leu1097=) c.3306T>C (p.Leu1102=) c.2880T>C (p.Leu960=) | |
| 1 | g.169541799A>T | CA421930653 | F5 | c.3291T>A (p.Leu1097=) c.3306T>A (p.Leu1102=) c.2880T>A (p.Leu960=) | |
| 1 | g.169541800A>C | CA343118674 | F5 | c.3290T>G (p.Leu1097Arg) c.3305T>G (p.Leu1102Arg) c.2879T>G (p.Leu960Arg) | |
| 1 | g.169541800A>G | CA343118676 | F5 | c.3290T>C (p.Leu1097Pro) c.3305T>C (p.Leu1102Pro) c.2879T>C (p.Leu960Pro) | |
| 1 | g.169541800A>T | CA343118678 | F5 | c.3290T>A (p.Leu1097His) c.3305T>A (p.Leu1102His) c.2879T>A (p.Leu960His) | |
| 1 | g.169541801G>A | CA343118680 | F5 | c.3289C>T (p.Leu1097Phe) c.3304C>T (p.Leu1102Phe) c.2878C>T (p.Leu960Phe) | |
| 1 | g.169541801G>C | CA343118682 | F5 | c.3289C>G (p.Leu1097Val) c.3304C>G (p.Leu1102Val) c.2878C>G (p.Leu960Val) | |
| 1 | g.169541801G>T | CA343118684 | F5 | c.3289C>A (p.Leu1097Ile) c.3304C>A (p.Leu1102Ile) c.2878C>A (p.Leu960Ile) | |
| 1 | g.169541802T>A | CA421930658 | F5 | c.3288A>T (p.Ser1096=) c.3303A>T (p.Ser1101=) c.2877A>T (p.Ser959=) | |
| 1 | g.169541802T>C | CA421930660 | F5 | c.3288A>G (p.Ser1096=) c.3303A>G (p.Ser1101=) c.2877A>G (p.Ser959=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.169541802T>G | CA421930659 | F5 | c.3288A>C (p.Ser1096=) c.3303A>C (p.Ser1101=) c.2877A>C (p.Ser959=) | |
| 1 | g.169541802T= | CA1206132454 | F5 | c.3288A= (p.Ser1096=) c.3303A= (p.Ser1101=) c.2877A= (p.Ser959=) | |
| 1 | g.169541803G>A | CA343118688 | F5 | c.3287C>T (p.Ser1096Leu) c.3302C>T (p.Ser1101Leu) c.2876C>T (p.Ser959Leu) | gnomAD v4 |
| 1 | g.169541803G>C | CA343118690 | F5 | c.3287C>G (p.Ser1096Ter) c.3302C>G (p.Ser1101Ter) c.2876C>G (p.Ser959Ter) | |
| 1 | g.169541803G>T | CA343118686 | F5 | c.3287C>A (p.Ser1096Ter) c.3302C>A (p.Ser1101Ter) c.2876C>A (p.Ser959Ter) | |
| 1 | g.169541804A>C | CA343118691 | F5 | c.3286T>G (p.Ser1096Ala) c.3301T>G (p.Ser1101Ala) c.2875T>G (p.Ser959Ala) | |
| 1 | g.169541804A>G | CA343118693 | F5 | c.3286T>C (p.Ser1096Pro) c.3301T>C (p.Ser1101Pro) c.2875T>C (p.Ser959Pro) | |
| 1 | g.169541804A>T | CA343118695 | F5 | c.3286T>A (p.Ser1096Thr) c.3301T>A (p.Ser1101Thr) c.2875T>A (p.Ser959Thr) | |
| 1 | g.169541805G>A | CA421930662 | F5 | c.3285C>T (p.Ala1095=) c.3300C>T (p.Ala1100=) c.2874C>T (p.Ala958=) | |
| 1 | g.169541805G>C | CA421930663 | F5 | c.3285C>G (p.Ala1095=) c.3300C>G (p.Ala1100=) c.2874C>G (p.Ala958=) | |
| 1 | g.169541805G>T | CA421930664 | F5 | c.3285C>A (p.Ala1095=) c.3300C>A (p.Ala1100=) c.2874C>A (p.Ala958=) |