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 |
|---|---|---|---|---|---|
| 4 | g.71783967_71783968dup | CA2670943554 | GC | c.57_58dup (p.Gly20GlufsTer27) c.114_115dup (p.Gly39GlufsTer27) | gnomAD v4 |
| 4 | g.71783967_71783968del | CA2670943555 | GC | c.57_58del (p.Gly20ProfsTer4) c.114_115del (p.Gly39ProfsTer4) | gnomAD v4 |
| 4 | g.71783967C>A | CA357212073 | GC | c.52G>T (p.Glu18Ter) c.109G>T (p.Glu37Ter) | |
| 4 | g.71783967C= | CA1467385587 | GC | c.52G= (p.Glu18=) c.109G= (p.Glu37=) | |
| 4 | g.71783967C>G | CA357212075 | GC | c.52G>C (p.Glu18Gln) c.109G>C (p.Glu37Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71783967C>T | CA357212076 | GC | c.52G>A (p.Glu18Lys) c.109G>A (p.Glu37Lys) | COSMIC COSMIC |
| 4 | g.71783968T>A | CA357212077 | GC | c.51A>T (p.Leu17Phe) c.108A>T (p.Leu36Phe) | |
| 4 | g.71783968T>C | CA439799378 | GC | c.51A>G (p.Leu17=) c.108A>G (p.Leu36=) | |
| 4 | g.71783968T>G | CA357212078 | GC | c.51A>C (p.Leu17Phe) c.108A>C (p.Leu36Phe) | |
| 4 | g.71783969A= | CA1467385588 | GC | c.50T= (p.Leu17=) c.107T= (p.Leu36=) | |
| 4 | g.71783969A>C | CA357212087 | GC | c.50T>G (p.Leu17Ter) c.107T>G (p.Leu36Ter) | |
| 4 | g.71783969A>G | CA2955860 | GC | c.50T>C (p.Leu17Ser) c.107T>C (p.Leu36Ser) | dbSNP ExAC gnomAD v2 |
| 4 | g.71783969A>T | CA357212082 | GC | c.50T>A (p.Leu17Ter) c.107T>A (p.Leu36Ter) | |
| 4 | g.71783970A>C | CA357212089 | GC | c.49T>G (p.Leu17Val) c.106T>G (p.Leu36Val) | |
| 4 | g.71783970A>G | CA439799382 | GC | c.49T>C (p.Leu17=) c.106T>C (p.Leu36=) | gnomAD v4 |
| 4 | g.71783970A>T | CA357212092 | GC | c.49T>A (p.Leu17Ile) c.106T>A (p.Leu36Ile) | |
| 4 | g.71783971A= | CA1467385589 | GC | c.48T= (p.Ala16=) c.105T= (p.Ala35=) | |
| 4 | g.71783971A>C | CA439799383 | GC | c.48T>G (p.Ala16=) c.105T>G (p.Ala35=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71783971A>G | CA439799385 | GC | c.48T>C (p.Ala16=) c.105T>C (p.Ala35=) | |
| 4 | g.71783971A>T | CA439799386 | GC | c.48T>A (p.Ala16=) c.105T>A (p.Ala35=) | |
| 4 | g.71783972G>A | CA357212100 | GC | c.47C>T (p.Ala16Val) c.104C>T (p.Ala35Val) | gnomAD v4 |
| 4 | g.71783972G>C | CA2955861 | GC | c.47C>G (p.Ala16Gly) c.104C>G (p.Ala35Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71783972G= | CA1467385590 | GC | c.47C= (p.Ala16=) c.104C= (p.Ala35=) | |
| 4 | g.71783972G>T | CA357212105 | GC | c.47C>A (p.Ala16Asp) c.104C>A (p.Ala35Asp) | gnomAD v4 |
| 4 | g.71783973C>A | CA357212108 | GC | c.46G>T (p.Ala16Ser) c.103G>T (p.Ala35Ser) | gnomAD v4 |
| 4 | g.71783973C= | CA1467385591 | GC | c.46G= (p.Ala16=) c.103G= (p.Ala35=) | |
| 4 | g.71783973C>G | CA357212109 | GC | c.46G>C (p.Ala16Pro) c.103G>C (p.Ala35Pro) | |
| 4 | g.71783973C>T | CA357212112 | GC | c.46G>A (p.Ala16Thr) c.103G>A (p.Ala35Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71783974A>C | CA357212126 | GC | c.45T>G (p.His15Gln) c.102T>G (p.His34Gln) | |
| 4 | g.71783974A>G | CA439799389 | GC | c.45T>C (p.His15=) c.102T>C (p.His34=) | gnomAD v4 |
| 4 | g.71783974A>T | CA357212115 | GC | c.45T>A (p.His15Gln) c.102T>A (p.His34Gln) | |
| 4 | g.71783975T>A | CA357212131 | GC | c.44A>T (p.His15Leu) c.101A>T (p.His34Leu) | |
| 4 | g.71783975T>C | CA99074586 | GC | c.44A>G (p.His15Arg) c.101A>G (p.His34Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71783975T>G | CA357212135 | GC | c.44A>C (p.His15Pro) c.101A>C (p.His34Pro) | |
| 4 | g.71783975T= | CA1467385592 | GC | c.44A= (p.His15=) c.101A= (p.His34=) | |
| 4 | g.71783976G>A | CA357212137 | GC | c.43C>T (p.His15Tyr) c.100C>T (p.His34Tyr) | |
| 4 | g.71783976G>C | CA357212140 | GC | c.43C>G (p.His15Asp) c.100C>G (p.His34Asp) | |
| 4 | g.71783976G>T | CA357212142 | GC | c.43C>A (p.His15Asn) c.100C>A (p.His34Asn) | gnomAD v4 COSMIC COSMIC |
| 4 | g.71783977T>A | CA439799393 | GC | c.42A>T (p.Gly14=) c.99A>T (p.Gly33=) | |
| 4 | g.71783977T>C | CA439799394 | GC | c.42A>G (p.Gly14=) c.99A>G (p.Gly33=) | gnomAD v4 |
| 4 | g.71783977T>G | CA439799396 | GC | c.42A>C (p.Gly14=) c.99A>C (p.Gly33=) | |
| 4 | g.71783978C>A | CA357212148 | GC | c.41G>T (p.Gly14Val) c.98G>T (p.Gly33Val) | |
| 4 | g.71783978C>G | CA357212167 | GC | c.41G>C (p.Gly14Ala) c.98G>C (p.Gly33Ala) | |
| 4 | g.71783978C>T | CA357212163 | GC | c.41G>A (p.Gly14Glu) c.98G>A (p.Gly33Glu) | gnomAD v4 |
| 4 | g.71783979C>A | CA357212170 | GC | c.40G>T (p.Gly14Ter) c.97G>T (p.Gly33Ter) | |
| 4 | g.71783979C= | CA1467385593 | GC | c.40G= (p.Gly14=) c.97G= (p.Gly33=) | |
| 4 | g.71783979C>G | CA357212172 | GC | c.40G>C (p.Gly14Arg) c.97G>C (p.Gly33Arg) | |
| 4 | g.71783979C>T | CA99074588 | GC | c.40G>A (p.Gly14Arg) c.97G>A (p.Gly33Arg) | dbSNP |
| 4 | g.71783980A>C | CA357212177 | GC | c.39T>G (p.Phe13Leu) c.96T>G (p.Phe32Leu) | |
| 4 | g.71783980A>G | CA439799397 | GC | c.39T>C (p.Phe13=) c.96T>C (p.Phe32=) | |
| 4 | g.71783980A>T | CA357212178 | GC | c.39T>A (p.Phe13Leu) c.96T>A (p.Phe32Leu) | |
| 4 | g.71783981A>C | CA357212181 | GC | c.38T>G (p.Phe13Cys) c.95T>G (p.Phe32Cys) | |
| 4 | g.71783981A>G | CA357212184 | GC | c.38T>C (p.Phe13Ser) c.95T>C (p.Phe32Ser) | |
| 4 | g.71783981A>T | CA357212185 | GC | c.38T>A (p.Phe13Tyr) c.95T>A (p.Phe32Tyr) | |
| 4 | g.71783982A= | CA1467385594 | GC | c.37T= (p.Phe13=) c.94T= (p.Phe32=) | |
| 4 | g.71783982A>C | CA357212186 | GC | c.37T>G (p.Phe13Val) c.94T>G (p.Phe32Val) | |
| 4 | g.71783982A>G | CA2955862 | GC | c.37T>C (p.Phe13Leu) c.94T>C (p.Phe32Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71783982A>T | CA357212187 | GC | c.37T>A (p.Phe13Ile) c.94T>A (p.Phe32Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71783983T>A | CA439799399 | GC | c.36A>T (p.Ala12=) c.93A>T (p.Ala31=) | |
| 4 | g.71783983T>C | CA2955863 | GC | c.36A>G (p.Ala12=) c.93A>G (p.Ala31=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71783983T>G | CA439799401 | GC | c.36A>C (p.Ala12=) c.93A>C (p.Ala31=) | |
| 4 | g.71783983T= | CA1467385595 | GC | c.36A= (p.Ala12=) c.93A= (p.Ala31=) | |
| 4 | g.71783984G>A | CA357212196 | GC | c.35C>T (p.Ala12Val) c.92C>T (p.Ala31Val) | dbSNP |
| 4 | g.71783984G>C | CA357212191 | GC | c.35C>G (p.Ala12Gly) c.92C>G (p.Ala31Gly) | |
| 4 | g.71783984G= | CA1467385596 | GC | c.35C= (p.Ala12=) c.92C= (p.Ala31=) | |
| 4 | g.71783984G>T | CA357212195 | GC | c.35C>A (p.Ala12Glu) c.92C>A (p.Ala31Glu) | |
| 4 | g.71783985C>A | CA2955864 | GC | c.34G>T (p.Ala12Ser) c.91G>T (p.Ala31Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71783985C= | CA1467385597 | GC | c.34G= (p.Ala12=) c.91G= (p.Ala31=) | |
| 4 | g.71783985C>G | CA357212205 | GC | c.34G>C (p.Ala12Pro) c.91G>C (p.Ala31Pro) | |
| 4 | g.71783985C>T | CA99074592 | GC | c.34G>A (p.Ala12Thr) c.91G>A (p.Ala31Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71783986C>A | CA439799406 | GC | c.33G>T (p.Val11=) c.90G>T (p.Val30=) | |
| 4 | g.71783986C= | CA1467385598 | GC | c.33G= (p.Val11=) c.90G= (p.Val30=) | |
| 4 | g.71783986C>G | CA2955865 | GC | c.33G>C (p.Val11=) c.90G>C (p.Val30=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71783986C>T | CA439799408 | GC | c.33G>A (p.Val11=) c.90G>A (p.Val30=) | |
| 4 | g.71783987A>C | CA357212209 | GC | c.32T>G (p.Val11Gly) c.89T>G (p.Val30Gly) | |
| 4 | g.71783987A>G | CA357212210 | GC | c.32T>C (p.Val11Ala) c.89T>C (p.Val30Ala) | |
| 4 | g.71783987A>T | CA357212212 | GC | c.32T>A (p.Val11Glu) c.89T>A (p.Val30Glu) | |
| 4 | g.71783988C>A | CA357212214 | GC | c.31G>T (p.Val11Leu) c.88G>T (p.Val30Leu) | |
| 4 | g.71783988C>G | CA357212216 | GC | c.31G>C (p.Val11Leu) c.88G>C (p.Val30Leu) | |
| 4 | g.71783988C>T | CA357212218 | GC | c.31G>A (p.Val11Met) c.88G>A (p.Val30Met) | dbSNP gnomAD v4 |
| 4 | g.71783989A>C | CA439799410 | GC | c.30T>G (p.Ala10=) c.87T>G (p.Ala29=) | gnomAD v4 |
| 4 | g.71783989A>G | CA439799411 | GC | c.30T>C (p.Ala10=) c.87T>C (p.Ala29=) | |
| 4 | g.71783989A>T | CA439799412 | GC | c.30T>A (p.Ala10=) c.87T>A (p.Ala29=) | |
| 4 | g.71783990G>A | CA357212226 | GC | c.29C>T (p.Ala10Val) c.86C>T (p.Ala29Val) | gnomAD v4 |
| 4 | g.71783990G>C | CA357212223 | GC | c.29C>G (p.Ala10Gly) c.86C>G (p.Ala29Gly) | |
| 4 | g.71783990G>T | CA357212220 | GC | c.29C>A (p.Ala10Asp) c.86C>A (p.Ala29Asp) | gnomAD v4 |
| 4 | g.71783991C>A | CA357212229 | GC | c.28G>T (p.Ala10Ser) c.85G>T (p.Ala29Ser) | |
| 4 | g.71783991C>G | CA357212231 | GC | c.28G>C (p.Ala10Pro) c.85G>C (p.Ala29Pro) | |
| 4 | g.71783991C>T | CA357212239 | GC | c.28G>A (p.Ala10Thr) c.85G>A (p.Ala29Thr) | |
| 4 | g.71783992A= | CA1467385599 | GC | c.27T= (p.Leu9=) c.84T= (p.Leu28=) | |
| 4 | g.71783992A>C | CA439799414 | GC | c.27T>G (p.Leu9=) c.84T>G (p.Leu28=) | |
| 4 | g.71783992A>G | CA439799415 | GC | c.27T>C (p.Leu9=) c.84T>C (p.Leu28=) | dbSNP gnomAD v4 |
| 4 | g.71783992A>T | CA439799416 | GC | c.27T>A (p.Leu9=) c.84T>A (p.Leu28=) | |
| 4 | g.71783993A>C | CA357212242 | GC | c.26T>G (p.Leu9Arg) c.83T>G (p.Leu28Arg) | |
| 4 | g.71783993A>G | CA357212244 | GC | c.26T>C (p.Leu9Pro) c.83T>C (p.Leu28Pro) | |
| 4 | g.71783993A>T | CA357212248 | GC | c.26T>A (p.Leu9His) c.83T>A (p.Leu28His) | |
| 4 | g.71783994G>A | CA357212254 | GC | c.25C>T (p.Leu9Phe) c.82C>T (p.Leu28Phe) | |
| 4 | g.71783994G>C | CA357212255 | GC | c.25C>G (p.Leu9Val) c.82C>G (p.Leu28Val) | |
| 4 | g.71783994G= | CA1467385600 | GC | c.25C= (p.Leu9=) c.82C= (p.Leu28=) | |
| 4 | g.71783994G>T | CA357212257 | GC | c.25C>A (p.Leu9Ile) c.82C>A (p.Leu28Ile) | |
| 4 | g.71783995C>A | CA439799423 | GC | c.24G>T (p.Leu8=) c.81G>T (p.Leu27=) | dbSNP |
| 4 | g.71783995C= | CA1467385601 | GC | c.24G= (p.Leu8=) c.81G= (p.Leu27=) | |
| 4 | g.71783995C>G | CA439799421 | GC | c.24G>C (p.Leu8=) c.81G>C (p.Leu27=) | gnomAD v4 |
| 4 | g.71783995C>T | CA439799422 | GC | c.24G>A (p.Leu8=) c.81G>A (p.Leu27=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71783995dup | CA99074595 | GC | c.24dup (p.Leu9AlafsTer16) c.81dup (p.Leu28AlafsTer16) | dbSNP |
| 4 | g.71783996A>C | CA357212264 | GC | c.23T>G (p.Leu8Arg) c.80T>G (p.Leu27Arg) | |
| 4 | g.71783996A>G | CA357212265 | GC | c.23T>C (p.Leu8Pro) c.80T>C (p.Leu27Pro) | |
| 4 | g.71783996A>T | CA357212269 | GC | c.23T>A (p.Leu8Gln) c.80T>A (p.Leu27Gln) | |
| 4 | g.71783997G>A | CA439799425 | GC | c.22C>T (p.Leu8=) c.79C>T (p.Leu27=) | gnomAD v4 |
| 4 | g.71783997G>C | CA357212276 | GC | c.22C>G (p.Leu8Val) c.79C>G (p.Leu27Val) | |
| 4 | g.71783997G= | CA1467385602 | GC | c.22C= (p.Leu8=) c.79C= (p.Leu27=) | |
| 4 | g.71783997G>T | CA357212282 | GC | c.22C>A (p.Leu8Met) c.79C>A (p.Leu27Met) | dbSNP gnomAD v4 |
| 4 | g.71783998T>A | CA439799426 | GC | c.21A>T (p.Leu7=) c.78A>T (p.Leu26=) | |
| 4 | g.71783998T>C | CA439799427 | GC | c.21A>G (p.Leu7=) c.78A>G (p.Leu26=) | |
| 4 | g.71783998T>G | CA439799428 | GC | c.21A>C (p.Leu7=) c.78A>C (p.Leu26=) | |
| 4 | g.71783999A>C | CA357212287 | GC | c.20T>G (p.Leu7Arg) c.77T>G (p.Leu26Arg) | |
| 4 | g.71783999A>G | CA357212292 | GC | c.20T>C (p.Leu7Pro) c.77T>C (p.Leu26Pro) | gnomAD v4 |
| 4 | g.71783999A>T | CA357212289 | GC | c.20T>A (p.Leu7Gln) c.77T>A (p.Leu26Gln) | |
| 4 | g.71784000G>A | CA439799430 | GC | c.19C>T (p.Leu7=) c.76C>T (p.Leu26=) | |
| 4 | g.71784000G>C | CA357212296 | GC | c.19C>G (p.Leu7Val) c.76C>G (p.Leu26Val) | |
| 4 | g.71784000G>T | CA357212298 | GC | c.19C>A (p.Leu7Ile) c.76C>A (p.Leu26Ile) | |
| 4 | g.71784001T>A | CA439799433 | GC | c.18A>T (p.Val6=) c.75A>T (p.Val25=) | dbSNP |
| 4 | g.71784001T>C | CA439799432 | GC | c.18A>G (p.Val6=) c.75A>G (p.Val25=) | COSMIC COSMIC |
| 4 | g.71784001T>G | CA439799434 | GC | c.18A>C (p.Val6=) c.75A>C (p.Val25=) | |
| 4 | g.71784001T= | CA1467385603 | GC | c.18A= (p.Val6=) c.75A= (p.Val25=) | |
| 4 | g.71784002A= | CA1467385604 | GC | c.17T= (p.Val6=) c.74T= (p.Val25=) | |
| 4 | g.71784002A>C | CA357212300 | GC | c.17T>G (p.Val6Gly) c.74T>G (p.Val25Gly) | |
| 4 | g.71784002A>G | CA99074597 | GC | c.17T>C (p.Val6Ala) c.74T>C (p.Val25Ala) | dbSNP |
| 4 | g.71784002A>T | CA357212305 | GC | c.17T>A (p.Val6Glu) c.74T>A (p.Val25Glu) | |
| 4 | g.71784003C>A | CA357212313 | GC | c.16G>T (p.Val6Leu) c.73G>T (p.Val25Leu) | |
| 4 | g.71784003C>G | CA357212311 | GC | c.16G>C (p.Val6Leu) c.73G>C (p.Val25Leu) | gnomAD v4 |
| 4 | g.71784003C>T | CA357212309 | GC | c.16G>A (p.Val6Ile) c.73G>A (p.Val25Ile) | gnomAD v4 |
| 4 | g.71784004C>A | CA439799439 | GC | c.15G>T (p.Leu5=) c.72G>T (p.Leu24=) | |
| 4 | g.71784004C>G | CA439799438 | GC | c.15G>C (p.Leu5=) c.72G>C (p.Leu24=) | |
| 4 | g.71784004C>T | CA439799437 | GC | c.15G>A (p.Leu5=) c.72G>A (p.Leu24=) | |
| 4 | g.71784005A>C | CA357212318 | GC | c.14T>G (p.Leu5Arg) c.71T>G (p.Leu24Arg) | |
| 4 | g.71784005A>G | CA357212320 | GC | c.14T>C (p.Leu5Pro) c.71T>C (p.Leu24Pro) | |
| 4 | g.71784005A>T | CA357212323 | GC | c.14T>A (p.Leu5Gln) c.71T>A (p.Leu24Gln) | |
| 4 | g.71784006G>A | CA439799442 | GC | c.13C>T (p.Leu5=) c.70C>T (p.Leu24=) | gnomAD v4 |
| 4 | g.71784006G>C | CA357212327 | GC | c.13C>G (p.Leu5Val) c.70C>G (p.Leu24Val) | |
| 4 | g.71784006G>T | CA357212330 | GC | c.13C>A (p.Leu5Met) c.70C>A (p.Leu24Met) | |
| 4 | g.71784007G>A | CA439799443 | GC | c.12C>T (p.Val4=) c.69C>T (p.Val23=) | dbSNP COSMIC COSMIC |
| 4 | g.71784007G>C | CA2955866 | GC | c.12C>G (p.Val4=) c.69C>G (p.Val23=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71784007G= | CA1467385605 | GC | c.12C= (p.Val4=) c.69C= (p.Val23=) | |
| 4 | g.71784007G>T | CA439799444 | GC | c.12C>A (p.Val4=) c.69C>A (p.Val23=) | |
| 4 | g.71784008A>C | CA357212348 | GC | c.11T>G (p.Val4Gly) c.68T>G (p.Val23Gly) | |
| 4 | g.71784008A>G | CA357212337 | GC | c.11T>C (p.Val4Ala) c.68T>C (p.Val23Ala) | |
| 4 | g.71784008A>T | CA357212346 | GC | c.11T>A (p.Val4Asp) c.68T>A (p.Val23Asp) | |
| 4 | g.71784009C>A | CA357212351 | GC | c.10G>T (p.Val4Phe) c.67G>T (p.Val23Phe) | |
| 4 | g.71784009C= | CA1467385606 | GC | c.10G= (p.Val4=) c.67G= (p.Val23=) | |
| 4 | g.71784009C>G | CA357212352 | GC | c.10G>C (p.Val4Leu) c.67G>C (p.Val23Leu) | |
| 4 | g.71784009C>T | CA2955867 | GC | c.10G>A (p.Val4Ile) c.67G>A (p.Val23Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71784010C>A | CA357212355 | GC | c.9G>T (p.Arg3Ser) c.66G>T (p.Arg22Ser) | |
| 4 | g.71784010C= | CA1467385607 | GC | c.9G= (p.Arg3=) c.66G= (p.Arg22=) | |
| 4 | g.71784010C>G | CA357212357 | GC | c.9G>C (p.Arg3Ser) c.66G>C (p.Arg22Ser) | |
| 4 | g.71784010C>T | CA439799449 | GC | c.9G>A (p.Arg3=) c.66G>A (p.Arg22=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 4 | g.71784011C>A | CA357212362 | GC | c.8G>T (p.Arg3Met) c.65G>T (p.Arg22Met) | |
| 4 | g.71784011C>G | CA357212364 | GC | c.8G>C (p.Arg3Thr) c.65G>C (p.Arg22Thr) | |
| 4 | g.71784011C>T | CA357212369 | GC | c.8G>A (p.Arg3Lys) c.65G>A (p.Arg22Lys) | |
| 4 | g.71784012T>A | CA357212370 | GC | c.7A>T (p.Arg3Trp) c.64A>T (p.Arg22Trp) | |
| 4 | g.71784012T>C | CA357212373 | GC | c.7A>G (p.Arg3Gly) c.64A>G (p.Arg22Gly) | |
| 4 | g.71784012T>G | CA439799453 | GC | c.7A>C (p.Arg3=) c.64A>C (p.Arg22=) | dbSNP gnomAD v4 |
| 4 | g.71784012T= | CA1467385608 | GC | c.7A= (p.Arg3=) c.64A= (p.Arg22=) | |
| 4 | g.71784013C>A | CA357212380 | GC | c.6G>T (p.Lys2Asn) c.63G>T (p.Lys21Asn) | |
| 4 | g.71784013C= | CA1467385609 | GC | c.6G= (p.Lys2=) c.63G= (p.Lys21=) | |
| 4 | g.71784013C>G | CA357212382 | GC | c.6G>C (p.Lys2Asn) c.63G>C (p.Lys21Asn) | |
| 4 | g.71784013C>T | CA439799454 | GC | c.6G>A (p.Lys2=) c.63G>A (p.Lys21=) | dbSNP |
| 4 | g.71784014T>A | CA357212386 | GC | c.5A>T (p.Lys2Met) c.62A>T (p.Lys21Met) | |
| 4 | g.71784014T>C | CA357212396 | GC | c.5A>G (p.Lys2Arg) c.62A>G (p.Lys21Arg) | |
| 4 | g.71784014T>G | CA357212387 | GC | c.5A>C (p.Lys2Thr) c.62A>C (p.Lys21Thr) | |
| 4 | g.71784015T>A | CA357212399 | GC | c.4A>T (p.Lys2Ter) c.61A>T (p.Lys21Ter) | |
| 4 | g.71784015T>C | CA357212403 | GC | c.4A>G (p.Lys2Glu) c.61A>G (p.Lys21Glu) | |
| 4 | g.71784015T>G | CA357212408 | GC | c.4A>C (p.Lys2Gln) c.61A>C (p.Lys21Gln) | |
| 4 | g.71784016C>A | CA357212410 | GC | c.3G>T (p.Met1Ile) c.60G>T (p.Met20Ile) | COSMIC |
| 4 | g.71784016C>G | CA357212418 | GC | c.3G>C (p.Met1Ile) c.60G>C (p.Met20Ile) | |
| 4 | g.71784016C>T | CA357212420 | GC | c.3G>A (p.Met1Ile) c.60G>A (p.Met20Ile) | |
| 4 | g.71784017A= | CA1467385610 | GC | c.2T= (p.Met1=) c.59T= (p.Met20=) | |
| 4 | g.71784017A>C | CA357212426 | GC | c.2T>G (p.Met1Arg) c.59T>G (p.Met20Arg) | |
| 4 | g.71784017A>G | CA357212430 | GC | c.2T>C (p.Met1Thr) c.59T>C (p.Met20Thr) | |
| 4 | g.71784017A>T | CA357212431 | GC | c.2T>A (p.Met1Lys) c.59T>A (p.Met20Lys) | gnomAD v4 |
| 4 | g.71784018T>A | CA357212433 | GC | c.1A>T (p.Met1Leu) c.58A>T (p.Met20Leu) | |
| 4 | g.71784018T>C | CA357212436 | GC | c.1A>G (p.Met1Val) c.58A>G (p.Met20Val) | |
| 4 | g.71784018T>G | CA357212438 | GC | c.1A>C (p.Met1Leu) c.58A>C (p.Met20Leu) | |
| 4 | g.71784022dup | CA2955868 | GC | c.1dup (p.Met1AsnfsTer24) c.58dup (p.Met20AsnfsTer24) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71784022del | CA2670943556 | GC | c.1del (p.Met1Ter) c.58del (p.Met20Ter) | gnomAD v4 |
| 4 | g.71784019T>A | CA357212440 | GC | c.-1A>T (n.-1A>T) c.57A>T (p.Lys19Asn) | |
| 4 | g.71784019T>C | CA439799461 | GC | c.-1A>G (n.-1A>G) c.57A>G (p.Lys19=) | |
| 4 | g.71784019T>G | CA357212445 | GC | c.-1A>C (n.-1A>C) c.57A>C (p.Lys19Asn) | |
| 4 | g.71784020T>A | CA357212448 | GC | c.-2A>T (n.-2A>T) c.56A>T (p.Lys19Ile) | |
| 4 | g.71784020T>C | CA357212458 | GC | c.-2A>G (n.-2A>G) c.56A>G (p.Lys19Arg) | dbSNP |
| 4 | g.71784020T>G | CA357212459 | GC | c.-2A>C (n.-2A>C) c.56A>C (p.Lys19Thr) | |
| 4 | g.71784020T= | CA1467385611 | GC | c.-2A= (n.-2A=) c.56A= (p.Lys19=) | |
| 4 | g.71784021T>A | CA357212462 | GC | c.-3A>T (n.-3A>T) c.55A>T (p.Lys19Ter) | |
| 4 | g.71784021T>C | CA357212465 | GC | c.-3A>G (n.-3A>G) c.55A>G (p.Lys19Glu) | COSMIC |
| 4 | g.71784021T>G | CA357212467 | GC | c.-3A>C (n.-3A>C) c.55A>C (p.Lys19Gln) | |
| 4 | g.71784022T>A | CA357212474 | GC | c.-4A>T (n.-4A>T) c.54A>T (p.Arg18Ser) | |
| 4 | g.71784022T>C | CA439799464 | GC | c.-4A>G (n.-4A>G) c.54A>G (p.Arg18=) | dbSNP |
| 4 | g.71784022T>G | CA357212477 | GC | c.-4A>C (n.-4A>C) c.54A>C (p.Arg18Ser) | dbSNP |
| 4 | g.71784022T= | CA1467385612 | GC | c.-4A= (n.-4A=) c.54A= (p.Arg18=) | |
| 4 | g.71784023C>A | CA357212480 | GC | c.-5G>T (n.-5G>T) c.53G>T (p.Arg18Ile) | |
| 4 | g.71784023C>G | CA357212482 | GC | c.-5G>C (n.-5G>C) c.53G>C (p.Arg18Thr) | |
| 4 | g.71784023C>T | CA357212492 | GC | c.-5G>A (n.-5G>A) c.53G>A (p.Arg18Lys) | |
| 4 | g.71784024T>A | CA357212499 | GC | c.-6A>T (n.-6A>T) c.52A>T (p.Arg18Ter) | |
| 4 | g.71784024T>C | CA357212505 | GC | c.-6A>G (n.-6A>G) c.52A>G (p.Arg18Gly) | |
| 4 | g.71784024T>G | CA439799466 | GC | c.-6A>C (n.-6A>C) c.52A>C (p.Arg18=) | dbSNP |
| 4 | g.71784024T= | CA1467385613 | GC | c.-6A= (n.-6A=) c.52A= (p.Arg18=) | |
| 4 | g.71784025A= | CA1467385614 | GC | c.-7T= (n.-7T=) c.51T= (p.Gly17=) | |
| 4 | g.71784025A>C | CA439799468 | GC | c.-7T>G (n.-7T>G) c.51T>G (p.Gly17=) | |
| 4 | g.71784025A>G | CA439799469 | GC | c.-7T>C (n.-7T>C) c.51T>C (p.Gly17=) | dbSNP gnomAD v4 |
| 4 | g.71784025A>T | CA439799470 | GC | c.-7T>A (n.-7T>A) c.51T>A (p.Gly17=) | |
| 4 | g.71784026C>A | CA357212508 | GC | c.-8G>T (n.-8G>T) c.50G>T (p.Gly17Val) | |
| 4 | g.71784026C>G | CA357212515 | GC | c.-8G>C (n.-8G>C) c.50G>C (p.Gly17Ala) | |
| 4 | g.71784026C>T | CA357212513 | GC | c.-8G>A (n.-8G>A) c.50G>A (p.Gly17Asp) | |
| 4 | g.71784027C>A | CA357212518 | GC | c.-9G>T (n.-9G>T) c.49G>T (p.Gly17Cys) | |
| 4 | g.71784027C>G | CA357212522 | GC | c.-9G>C (n.-9G>C) c.49G>C (p.Gly17Arg) | |
| 4 | g.71784027C>T | CA357212524 | GC | c.-9G>A (n.-9G>A) c.49G>A (p.Gly17Ser) | |
| 4 | g.71784027_71784029delinsCAG | CA1467385615 | GC | c.-11_-9delinsCTG (n.-11_-9delinsCTG) c.47_49delinsCTG (p.Ser16=) | |
| 4 | g.71784028del | CA2670943557 | GC | c.-10del (n.-10del) c.48del (p.Gly17ValfsTer4) | gnomAD v4 |
| 4 | g.71784028A>C | CA439799478 | GC | c.-10T>G (n.-10T>G) c.48T>G (p.Ser16=) | |
| 4 | g.71784028A>G | CA439799472 | GC | c.-10T>C (n.-10T>C) c.48T>C (p.Ser16=) | gnomAD v4 |
| 4 | g.71784028A>T | CA439799475 | GC | c.-10T>A (n.-10T>A) c.48T>A (p.Ser16=) | |
| 4 | g.71784032_71784033del | CA2955869 | GC | c.-11_-10del (n.-11_-10del) c.47_48del (p.Ser16TrpfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71784029G>A | CA357212532 | GC | c.-11C>T (n.-11C>T) c.47C>T (p.Ser16Phe) | |
| 4 | g.71784029G>C | CA357212537 | GC | c.-11C>G (n.-11C>G) c.47C>G (p.Ser16Cys) | |
| 4 | g.71784029G>T | CA357212540 | GC | c.-11C>A (n.-11C>A) c.47C>A (p.Ser16Tyr) | |
| 4 | g.71784030A= | CA1467385616 | GC | c.-12T= (n.-12T=) c.46T= (p.Ser16=) | |
| 4 | g.71784030A>C | CA357212545 | GC | c.-12T>G (n.-12T>G) c.46T>G (p.Ser16Ala) | gnomAD v4 |
| 4 | g.71784030A>G | CA357212548 | GC | c.-12T>C (n.-12T>C) c.46T>C (p.Ser16Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71784030A>T | CA357212549 | GC | c.-12T>A (n.-12T>A) c.46T>A (p.Ser16Thr) | |
| 4 | g.71784031G>A | CA439799480 | GC | c.-13C>T (n.-13C>T) c.45C>T (p.Leu15=) | gnomAD v4 |
| 4 | g.71784031G>C | CA439799484 | GC | c.-13C>G (n.-13C>G) c.45C>G (p.Leu15=) | |
| 4 | g.71784031G>T | CA439799485 | GC | c.-13C>A (n.-13C>A) c.45C>A (p.Leu15=) | |
| 4 | g.71784032A>C | CA357212557 | GC | c.-14T>G (n.-14T>G) c.44T>G (p.Leu15Arg) | |
| 4 | g.71784032A>G | CA357212564 | GC | c.-14T>C (n.-14T>C) c.44T>C (p.Leu15Pro) | |
| 4 | g.71784032A>T | CA357212567 | GC | c.-14T>A (n.-14T>A) c.44T>A (p.Leu15His) | |
| 4 | g.71784033G>A | CA357212570 | GC | c.-15C>T (n.-15C>T) c.43C>T (p.Leu15Phe) | dbSNP gnomAD v4 |
| 4 | g.71784033G>C | CA357212579 | GC | c.-15C>G (n.-15C>G) c.43C>G (p.Leu15Val) | |
| 4 | g.71784033G= | CA1467385617 | GC | c.-15C= (n.-15C=) c.43C= (p.Leu15=) | |
| 4 | g.71784033G>T | CA357212576 | GC | c.-15C>A (n.-15C>A) c.43C>A (p.Leu15Ile) | |
| 4 | g.71784034T>A | CA357212582 | GC | c.-16A>T (n.-16A>T) c.42A>T (p.Arg14Ser) | dbSNP gnomAD v2 |
| 4 | g.71784034T>C | CA439799487 | GC | c.-16A>G (n.-16A>G) c.42A>G (p.Arg14=) | gnomAD v4 |
| 4 | g.71784034T>G | CA357212584 | GC | c.-16A>C (n.-16A>C) c.42A>C (p.Arg14Ser) | |
| 4 | g.71784034T= | CA1467385618 | GC | c.-16A= (n.-16A=) c.42A= (p.Arg14=) | |
| 4 | g.71784035C>A | CA357212588 | GC | c.-17G>T (n.-17G>T) c.41G>T (p.Arg14Ile) | gnomAD v4 |
| 4 | g.71784035C= | CA1467385619 | GC | c.-17G= (n.-17G=) c.41G= (p.Arg14=) | |
| 4 | g.71784035C>G | CA357212590 | GC | c.-17G>C (n.-17G>C) c.41G>C (p.Arg14Thr) | |
| 4 | g.71784035C>T | CA357212592 | GC | c.-17G>A (n.-17G>A) c.41G>A (p.Arg14Lys) | dbSNP COSMIC |
| 4 | g.71784036T>A | CA357212601 | GC | c.-18A>T (n.-18A>T) c.40A>T (p.Arg14Ter) | |
| 4 | g.71784036T>C | CA357212603 | GC | c.-18A>G (n.-18A>G) c.40A>G (p.Arg14Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71784036T>G | CA439799494 | GC | c.-18A>C (n.-18A>C) c.40A>C (p.Arg14=) | |
| 4 | g.71784036T= | CA1467385620 | GC | c.-18A= (n.-18A=) c.40A= (p.Arg14=) | |
| 4 | g.71784037T>A | CA439799497 | GC | c.-19A>T (n.-19A>T) c.39A>T (p.Ala13=) | |
| 4 | g.71784037T>C | CA439799495 | GC | c.-19A>G (n.-19A>G) c.39A>G (p.Ala13=) | |
| 4 | g.71784037T>G | CA439799496 | GC | c.-19A>C (n.-19A>C) c.39A>C (p.Ala13=) | |
| 4 | g.71784037T= | CA1467385621 | GC | c.-19A= (n.-19A=) c.39A= (p.Ala13=) | |
| 4 | g.71784038G>A | CA357212607 | GC | c.-20C>T (n.-20C>T) c.38C>T (p.Ala13Val) | gnomAD v4 |
| 4 | g.71784038G>C | CA357212610 | GC | c.-20C>G (n.-20C>G) c.38C>G (p.Ala13Gly) | |
| 4 | g.71784038G>T | CA357212613 | GC | c.-20C>A (n.-20C>A) c.38C>A (p.Ala13Glu) | |
| 4 | g.71784038dup | CA1064002337 | GC | c.-20dup (n.-20dup) c.38dup (p.Arg14LysfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71784039C>A | CA99074603 | GC | c.-21G>T (n.-21G>T) c.37G>T (p.Ala13Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71784039C= | CA1467385622 | GC | c.-21G= (n.-21G=) c.37G= (p.Ala13=) | |
| 4 | g.71784039C>G | CA357212622 | GC | c.-21G>C (n.-21G>C) c.37G>C (p.Ala13Pro) | |
| 4 | g.71784039C>T | CA357212619 | GC | c.-21G>A (n.-21G>A) c.37G>A (p.Ala13Thr) | gnomAD v4 |
| 4 | g.71784040A= | CA1467385623 | GC | c.-22T= (n.-22T=) c.36T= (p.Ala12=) | |
| 4 | g.71784040A>C | CA439799501 | GC | c.-22T>G (n.-22T>G) c.36T>G (p.Ala12=) | |
| 4 | g.71784040A>G | CA2955870 | GC | c.-22T>C (n.-22T>C) c.36T>C (p.Ala12=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71784040A>T | CA439799504 | GC | c.-22T>A (n.-22T>A) c.36T>A (p.Ala12=) | COSMIC |
| 4 | g.71784041G>A | CA357212636 | GC | c.-23C>T (n.-23C>T) c.35C>T (p.Ala12Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71784041G>C | CA357212646 | GC | c.-23C>G (n.-23C>G) c.35C>G (p.Ala12Gly) | |
| 4 | g.71784041G= | CA1467385624 | GC | c.-23C= (n.-23C=) c.35C= (p.Ala12=) | |
| 4 | g.71784041G>T | CA357212648 | GC | c.-23C>A (n.-23C>A) c.35C>A (p.Ala12Asp) | |
| 4 | g.71784041_71784042delinsGC | CA1467385625 | GC | c.-24_-23delinsGC (n.-24_-23delinsGC) c.34_35delinsGC (p.Ala12=) | |
| 4 | g.71784042del | CA1064002345 | GC | c.-24del (n.-24del) c.34del (p.Ala12LeufsTer9) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71784042C>A | CA357212657 | GC | c.-24G>T (n.-24G>T) c.34G>T (p.Ala12Ser) | |
| 4 | g.71784042C= | CA1467385626 | GC | c.-24G= (n.-24G=) c.34G= (p.Ala12=) | |
| 4 | g.71784042C>G | CA357212660 | GC | c.-24G>C (n.-24G>C) c.34G>C (p.Ala12Pro) | |
| 4 | g.71784042C>T | CA99074606 | GC | c.-24G>A (n.-24G>A) c.34G>A (p.Ala12Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71784043A= | CA1467385627 | GC | c.-25T= (n.-25T=) c.33T= (p.Gly11=) | |
| 4 | g.71784043A>C | CA439799508 | GC | c.-25T>G (n.-25T>G) c.33T>G (p.Gly11=) | dbSNP gnomAD v4 |
| 4 | g.71784043A>G | CA439799507 | GC | c.-25T>C (n.-25T>C) c.33T>C (p.Gly11=) | |
| 4 | g.71784043A>T | CA439799509 | GC | c.-25T>A (n.-25T>A) c.33T>A (p.Gly11=) | |
| 4 | g.71784044C>A | CA357212666 | GC | c.-26G>T (n.-26G>T) c.32G>T (p.Gly11Val) | |
| 4 | g.71784044C>G | CA357212669 | GC | c.-26G>C (n.-26G>C) c.32G>C (p.Gly11Ala) | |
| 4 | g.71784044C>T | CA357212671 | GC | c.-26G>A (n.-26G>A) c.32G>A (p.Gly11Asp) | |
| 4 | g.71784045C>A | CA357212675 | GC | c.-27G>T (n.-27G>T) c.31G>T (p.Gly11Cys) | |
| 4 | g.71784045C>G | CA357212676 | GC | c.-27G>C (n.-27G>C) c.31G>C (p.Gly11Arg) | |
| 4 | g.71784045C>T | CA357212680 | GC | c.-27G>A (n.-27G>A) c.31G>A (p.Gly11Ser) | gnomAD v4 |
| 4 | g.71784046T>A | CA439799513 | GC | c.-28A>T (n.-28A>T) c.30A>T (p.Gly10=) | |
| 4 | g.71784046T>C | CA439799514 | GC | c.-28A>G (n.-28A>G) c.30A>G (p.Gly10=) | |
| 4 | g.71784046T>G | CA439799516 | GC | c.-28A>C (n.-28A>C) c.30A>C (p.Gly10=) | |
| 4 | g.71784046_71784047insA | CA2670943558 | GC | c.-29_-28insT (n.-29_-28insT) c.29_30insT (p.Gly11ArgfsTer8) | gnomAD v4 |
| 4 | g.71784047C>A | CA357212696 | GC | c.-29G>T (n.-29G>T) c.29G>T (p.Gly10Val) | gnomAD v4 |
| 4 | g.71784047C>G | CA357212689 | GC | c.-29G>C (n.-29G>C) c.29G>C (p.Gly10Ala) | |
| 4 | g.71784047C>T | CA357212692 | GC | c.-29G>A (n.-29G>A) c.29G>A (p.Gly10Glu) | |
| 4 | g.71784047_71784048insAGGAGAGAGGAGGTGCTGCAAGA | CA2670943559 | GC | c.-30_-29insTCTTGCAGCACCTCCTCTCTCCT (n.-30_-29insTCTTGCAGCACCTCCTCTCTCCT) c.28_29insTCTTGCAGCACCTCCTCTCTCCT (p.Gly10ValfsTer19) | gnomAD v4 |
| 4 | g.71784048C>A | CA357212701 | GC | c.-30G>T (n.-30G>T) c.28G>T (p.Gly10Ter) | |
| 4 | g.71784048C>G | CA357212703 | GC | c.-30G>C (n.-30G>C) c.28G>C (p.Gly10Arg) | |
| 4 | g.71784048C>T | CA357212709 | GC | c.-30G>A (n.-30G>A) c.28G>A (p.Gly10Arg) | gnomAD v4 |
| 4 | g.71784053_71784054del | CA2670943560 | GC | c.-31_-30del (n.-31_-30del) c.27_28del (p.Gly10ArgfsTer8) | gnomAD v4 |
| 4 | g.71784049T>A | CA357212713 | GC | c.-31A>T (n.-31A>T) c.27A>T (p.Arg9Ser) | |
| 4 | g.71784049T>C | CA439799523 | GC | c.-31A>G (n.-31A>G) c.27A>G (p.Arg9=) | gnomAD v4 |
| 4 | g.71784049T>G | CA357212717 | GC | c.-31A>C (n.-31A>C) c.27A>C (p.Arg9Ser) | |
| 4 | g.71784050C>A | CA357212718 | GC | c.-32G>T (n.-32G>T) c.26G>T (p.Arg9Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71784050C= | CA1467385628 | GC | c.-32G= (n.-32G=) c.26G= (p.Arg9=) | |
| 4 | g.71784050C>G | CA357212722 | GC | c.-32G>C (n.-32G>C) c.26G>C (p.Arg9Thr) | |
| 4 | g.71784050C>T | CA2955871 | GC | c.-32G>A (n.-32G>A) c.26G>A (p.Arg9Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71784051T>A | CA357212726 | GC | c.-33A>T (n.-33A>T) c.25A>T (p.Arg9Ter) | |
| 4 | g.71784051T>C | CA357212729 | GC | c.-33A>G (n.-33A>G) c.25A>G (p.Arg9Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.71784051T>G | CA439799528 | GC | c.-33A>C (n.-33A>C) c.25A>C (p.Arg9=) | |
| 4 | g.71784051T= | CA1467385629 | GC | c.-33A= (n.-33A=) c.25A= (p.Arg9=) | |
| 4 | g.71784052C>A | CA357212738 | GC | c.-34G>T (n.-34G>T) c.24G>T (p.Glu8Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71784052C= | CA1467385630 | GC | c.-34G= (n.-34G=) c.24G= (p.Glu8=) | |
| 4 | g.71784052C>G | CA357212749 | GC | c.-34G>C (n.-34G>C) c.24G>C (p.Glu8Asp) | dbSNP gnomAD v4 |
| 4 | g.71784052C>T | CA439799529 | GC | c.-34G>A (n.-34G>A) c.24G>A (p.Glu8=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71784053T>A | CA357212755 | GC | c.-35A>T (n.-35A>T) c.23A>T (p.Glu8Val) | |
| 4 | g.71784053T>C | CA357212759 | GC | c.-35A>G (n.-35A>G) c.23A>G (p.Glu8Gly) | |
| 4 | g.71784053T>G | CA357212753 | GC | c.-35A>C (n.-35A>C) c.23A>C (p.Glu8Ala) | |
| 4 | g.71784054C>A | CA357212764 | GC | c.-36G>T (n.-36G>T) c.22G>T (p.Glu8Ter) | |
| 4 | g.71784054C>G | CA357212761 | GC | c.-36G>C (n.-36G>C) c.22G>C (p.Glu8Gln) | |
| 4 | g.71784054C>T | CA357212767 | GC | c.-36G>A (n.-36G>A) c.22G>A (p.Glu8Lys) | gnomAD v4 |
| 4 | g.71784055C>A | CA357212771 | GC | c.-37G>T (n.-37G>T) c.22-1G>T (n.22-1G>T) c.-36-1G>T (n.-36-1G>T) | |
| 4 | g.71784055C= | CA1467385631 | GC | c.-37G= (n.-37G=) c.22-1G= (n.22-1G=) c.-36-1G= (n.-36-1G=) | |
| 4 | g.71784055C>G | CA357212777 | GC | c.-37G>C (n.-37G>C) c.22-1G>C (n.22-1G>C) c.-36-1G>C (n.-36-1G>C) | |
| 4 | g.71784055C>T | CA357212773 | GC | c.-37G>A (n.-37G>A) c.22-1G>A (n.22-1G>A) c.-36-1G>A (n.-36-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71784056T>A | CA357212781 | GC | c.-38A>T (n.-38A>T) c.22-2A>T (n.22-2A>T) c.-36-2A>T (n.-36-2A>T) | |
| 4 | g.71784056T>C | CA357212783 | GC | c.-38A>G (n.-38A>G) c.22-2A>G (n.22-2A>G) c.-36-2A>G (n.-36-2A>G) | |
| 4 | g.71784056T>G | CA357212784 | GC | c.-38A>C (n.-38A>C) c.22-2A>C (n.22-2A>C) c.-36-2A>C (n.-36-2A>C) | |
| 4 | g.71784057G>A | CA2955872 | GC | c.-39C>T (n.-39C>T) c.22-3C>T (n.22-3C>T) c.-36-3C>T (n.-36-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71784057G>C | CA2580589241 | GC | c.-39C>G (n.-39C>G) c.22-3C>G (n.22-3C>G) c.-36-3C>G (n.-36-3C>G) | |
| 4 | g.71784057G= | CA1467385632 | GC | c.-39C= (n.-39C=) c.22-3C= (n.22-3C=) c.-36-3C= (n.-36-3C=) | |
| 4 | g.71784057G>T | CA2580589240 | GC | c.-39C>A (n.-39C>A) c.22-3C>A (n.22-3C>A) c.-36-3C>A (n.-36-3C>A) | |
| 4 | g.71784058T>A | CA1467385634 | GC | c.-40A>T (n.-40A>T) c.22-4A>T (n.22-4A>T) c.-36-4A>T (n.-36-4A>T) | dbSNP gnomAD v4 |
| 4 | g.71784058T>C | CA552292681 | GC | c.-40A>G (n.-40A>G) c.22-4A>G (n.22-4A>G) c.-36-4A>G (n.-36-4A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71784058T= | CA1467385633 | GC | c.-40A= (n.-40A=) c.22-4A= (n.22-4A=) c.-36-4A= (n.-36-4A=) | |
| 4 | g.71784058dup | CA2955873 | GC | c.-40dup (n.-40dup) c.22-4dup (n.22-4dup) c.-36-4dup (n.-36-4dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71784059A>G | CA2670943561 | GC | c.-41T>C (n.-41T>C) c.22-5T>C (n.22-5T>C) c.-36-5T>C (n.-36-5T>C) | gnomAD v4 |
| 4 | g.71784060G= | CA1467385635 | GC | c.-42C= (n.-42C=) c.22-6C= (n.22-6C=) c.-36-6C= (n.-36-6C=) | |
| 4 | g.71784060G>T | CA2955874 | GC | c.-42C>A (n.-42C>A) c.22-6C>A (n.22-6C>A) c.-36-6C>A (n.-36-6C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71784061G>A | CA2955875 | GC | c.-43C>T (n.-43C>T) c.22-7C>T (n.22-7C>T) c.-36-7C>T (n.-36-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71784061G>C | CA2670943562 | GC | c.-43C>G (n.-43C>G) c.22-7C>G (n.22-7C>G) c.-36-7C>G (n.-36-7C>G) | gnomAD v4 |
| 4 | g.71784061G= | CA1467385636 | GC | c.-43C= (n.-43C=) c.22-7C= (n.22-7C=) c.-36-7C= (n.-36-7C=) | |
| 4 | g.71784063_71784064insCTG | CA2670943563 | GC | c.-44_-43insGCA (n.-44_-43insGCA) c.22-8_22-7insGCA (n.22-8_22-7insGCA) c.-36-8_-36-7insGCA (n.-36-8_-36-7insGCA) | gnomAD v4 |
| 4 | g.71784063G>A | CA2670943564 | GC | c.-45C>T (n.-45C>T) c.22-9C>T (n.22-9C>T) c.-36-9C>T (n.-36-9C>T) | gnomAD v4 |
| 4 | g.71784063G>T | CA2670943565 | GC | c.-45C>A (n.-45C>A) c.22-9C>A (n.22-9C>A) c.-36-9C>A (n.-36-9C>A) | gnomAD v4 |
| 4 | g.71784064A= | CA1467385637 | GC | c.-46T= (n.-46T=) c.22-10T= (n.22-10T=) c.-36-10T= (n.-36-10T=) | |
| 4 | g.71784064A>G | CA552292682 | GC | c.-46T>C (n.-46T>C) c.22-10T>C (n.22-10T>C) c.-36-10T>C (n.-36-10T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71784064A>T | CA2670943566 | GC | c.-46T>A (n.-46T>A) c.22-10T>A (n.22-10T>A) c.-36-10T>A (n.-36-10T>A) | gnomAD v4 |
| 4 | g.71784065C>A | CA552292683 | GC | c.-47G>T (n.-47G>T) c.22-11G>T (n.22-11G>T) c.-36-11G>T (n.-36-11G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71784065C= | CA1467385638 | GC | c.-47G= (n.-47G=) c.22-11G= (n.22-11G=) c.-36-11G= (n.-36-11G=) | |
| 4 | g.71784066C>A | CA552292684 | GC | c.-48G>T (n.-48G>T) c.22-12G>T (n.22-12G>T) c.-36-12G>T (n.-36-12G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71784066C= | CA1467385639 | GC | c.-48G= (n.-48G=) c.22-12G= (n.22-12G=) c.-36-12G= (n.-36-12G=) | |
| 4 | g.71784066C>T | CA2955876 | GC | c.-48G>A (n.-48G>A) c.22-12G>A (n.22-12G>A) c.-36-12G>A (n.-36-12G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71784067A>C | CA2670943567 | GC | c.-49T>G (n.-49T>G) c.22-13T>G (n.22-13T>G) c.-36-13T>G (n.-36-13T>G) | gnomAD v4 |