| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.113697534A>C | CA378416366 | CASP7 | c.41A>C (p.Glu14Ala) c.265A>C (p.Arg89=) c.140A>C (p.Glu47Ala) c.52A>C (p.Arg18=) c.34A>C (p.Arg12=) c.98A>C (p.Glu33Ala) | |
| 10 | g.113697534A>G | CA378416368 | CASP7 | c.41A>G (p.Glu14Gly) c.265A>G (p.Arg89Gly) c.140A>G (p.Glu47Gly) c.52A>G (p.Arg18Gly) c.34A>G (p.Arg12Gly) c.98A>G (p.Glu33Gly) | |
| 10 | g.113697534A>T | CA378416370 | CASP7 | c.41A>T (p.Glu14Val) c.265A>T (p.Arg89Trp) c.140A>T (p.Glu47Val) c.52A>T (p.Arg18Trp) c.34A>T (p.Arg12Trp) c.98A>T (p.Glu33Val) | |
| 10 | g.113697535G>A | CA378416372 | CASP7 | c.42G>A (p.Glu14=) c.266G>A (p.Arg89Lys) c.141G>A (p.Glu47=) c.53G>A (p.Arg18Lys) c.35G>A (p.Arg12Lys) c.99G>A (p.Glu33=) | gnomAD v4 |
| 10 | g.113697535G>C | CA378416374 | CASP7 | c.42G>C (p.Glu14Asp) c.266G>C (p.Arg89Thr) c.141G>C (p.Glu47Asp) c.53G>C (p.Arg18Thr) c.35G>C (p.Arg12Thr) c.99G>C (p.Glu33Asp) | |
| 10 | g.113697535G>T | CA378416375 | CASP7 | c.42G>T (p.Glu14Asp) c.266G>T (p.Arg89Met) c.141G>T (p.Glu47Asp) c.53G>T (p.Arg18Met) c.35G>T (p.Arg12Met) c.99G>T (p.Glu33Asp) | |
| 10 | g.113697536G>A | CA378416380 | CASP7 | c.43G>A (p.Asp15Asn) c.267G>A (p.Arg89=) c.142G>A (p.Asp48Asn) c.54G>A (p.Arg18=) c.36G>A (p.Arg12=) c.100G>A (p.Asp34Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113697536G>C | CA378416377 | CASP7 | c.43G>C (p.Asp15His) c.267G>C (p.Arg89Ser) c.142G>C (p.Asp48His) c.54G>C (p.Arg18Ser) c.36G>C (p.Arg12Ser) c.100G>C (p.Asp34His) | |
| 10 | g.113697536G= | CA1937479376 | CASP7 | c.43G= (p.Asp15=) c.267G= (p.Arg89=) c.142G= (p.Asp48=) c.54G= (p.Arg18=) c.36G= (p.Arg12=) c.100G= (p.Asp34=) | |
| 10 | g.113697536G>T | CA378416378 | CASP7 | c.43G>T (p.Asp15Tyr) c.267G>T (p.Arg89Ser) c.142G>T (p.Asp48Tyr) c.54G>T (p.Arg18Ser) c.36G>T (p.Arg12Ser) c.100G>T (p.Asp34Tyr) | |
| 10 | g.113697537A= | CA1937479377 | CASP7 | c.44A= (p.Asp15=) c.268A= (p.Ile90=) c.143A= (p.Asp48=) c.55A= (p.Ile19=) c.37A= (p.Ile13=) c.101A= (p.Asp34=) | |
| 10 | g.113697537A>C | CA378416381 | CASP7 | c.44A>C (p.Asp15Ala) c.268A>C (p.Ile90Leu) c.143A>C (p.Asp48Ala) c.55A>C (p.Ile19Leu) c.37A>C (p.Ile13Leu) c.101A>C (p.Asp34Ala) | |
| 10 | g.113697537A>G | CA378416383 | CASP7 | c.44A>G (p.Asp15Gly) c.268A>G (p.Ile90Val) c.143A>G (p.Asp48Gly) c.55A>G (p.Ile19Val) c.37A>G (p.Ile13Val) c.101A>G (p.Asp34Gly) | |
| 10 | g.113697537A>T | CA5696203 | CASP7 | c.44A>T (p.Asp15Val) c.268A>T (p.Ile90Phe) c.143A>T (p.Asp48Val) c.55A>T (p.Ile19Phe) c.37A>T (p.Ile13Phe) c.101A>T (p.Asp34Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113697538T>A | CA378416385 | CASP7 | c.45T>A (p.Asp15Glu) c.269T>A (p.Ile90Asn) c.144T>A (p.Asp48Glu) c.56T>A (p.Ile19Asn) c.38T>A (p.Ile13Asn) c.102T>A (p.Asp34Glu) | |
| 10 | g.113697538T>C | CA378416387 | CASP7 | c.45T>C (p.Asp15=) c.269T>C (p.Ile90Thr) c.144T>C (p.Asp48=) c.56T>C (p.Ile19Thr) c.38T>C (p.Ile13Thr) c.102T>C (p.Asp34=) | |
| 10 | g.113697538T>G | CA378416389 | CASP7 | c.45T>G (p.Asp15Glu) c.269T>G (p.Ile90Ser) c.144T>G (p.Asp48Glu) c.56T>G (p.Ile19Ser) c.38T>G (p.Ile13Ser) c.102T>G (p.Asp34Glu) | |
| 10 | g.113697539T>A | CA378416390 | CASP7 | c.46T>A (p.Ser16Thr) c.270T>A (p.Ile90=) c.145T>A (p.Ser49Thr) c.57T>A (p.Ile19=) c.39T>A (p.Ile13=) c.103T>A (p.Ser35Thr) | |
| 10 | g.113697539T>C | CA378416391 | CASP7 | c.46T>C (p.Ser16Pro) c.270T>C (p.Ile90=) c.145T>C (p.Ser49Pro) c.57T>C (p.Ile19=) c.39T>C (p.Ile13=) c.103T>C (p.Ser35Pro) | |
| 10 | g.113697539T>G | CA378416393 | CASP7 | c.46T>G (p.Ser16Ala) c.270T>G (p.Ile90Met) c.145T>G (p.Ser49Ala) c.57T>G (p.Ile19Met) c.39T>G (p.Ile13Met) c.103T>G (p.Ser35Ala) | |
| 10 | g.113697540C>A | CA378416395 | CASP7 | c.47C>A (p.Ser16Ter) c.271C>A (p.Gln91Lys) c.146C>A (p.Ser49Ter) c.58C>A (p.Gln20Lys) c.40C>A (p.Gln14Lys) c.104C>A (p.Ser35Ter) | |
| 10 | g.113697540C>G | CA378416396 | CASP7 | c.47C>G (p.Ser16Ter) c.271C>G (p.Gln91Glu) c.146C>G (p.Ser49Ter) c.58C>G (p.Gln20Glu) c.40C>G (p.Gln14Glu) c.104C>G (p.Ser35Ter) | |
| 10 | g.113697540C>T | CA378416397 | CASP7 | c.47C>T (p.Ser16Leu) c.271C>T (p.Gln91Ter) c.146C>T (p.Ser49Leu) c.58C>T (p.Gln20Ter) c.40C>T (p.Gln14Ter) c.104C>T (p.Ser35Leu) | |
| 10 | g.113697541A>C | CA378416400 | CASP7 | c.48A>C (p.Ser16=) c.272A>C (p.Gln91Pro) c.147A>C (p.Ser49=) c.59A>C (p.Gln20Pro) c.41A>C (p.Gln14Pro) c.105A>C (p.Ser35=) | |
| 10 | g.113697541A>G | CA378416402 | CASP7 | c.48A>G (p.Ser16=) c.272A>G (p.Gln91Arg) c.147A>G (p.Ser49=) c.59A>G (p.Gln20Arg) c.41A>G (p.Gln14Arg) c.105A>G (p.Ser35=) | |
| 10 | g.113697541A>T | CA378416399 | CASP7 | c.48A>T (p.Ser16=) c.272A>T (p.Gln91Leu) c.147A>T (p.Ser49=) c.59A>T (p.Gln20Leu) c.41A>T (p.Gln14Leu) c.105A>T (p.Ser35=) | |
| 10 | g.113697542G>A | CA378416407 | CASP7 | c.49G>A (p.Ala17Thr) c.273G>A (p.Gln91=) c.148G>A (p.Ala50Thr) c.60G>A (p.Gln20=) c.42G>A (p.Gln14=) c.106G>A (p.Ala36Thr) | gnomAD v4 |
| 10 | g.113697542G>C | CA378416403 | CASP7 | c.49G>C (p.Ala17Pro) c.273G>C (p.Gln91His) c.148G>C (p.Ala50Pro) c.60G>C (p.Gln20His) c.42G>C (p.Gln14His) c.106G>C (p.Ala36Pro) | |
| 10 | g.113697542G>T | CA378416405 | CASP7 | c.49G>T (p.Ala17Ser) c.273G>T (p.Gln91His) c.148G>T (p.Ala50Ser) c.60G>T (p.Gln20His) c.42G>T (p.Gln14His) c.106G>T (p.Ala36Ser) | |
| 10 | g.113697543C>A | CA378416408 | CASP7 | c.50C>A (p.Ala17Glu) c.274C>A (p.Gln92Lys) c.149C>A (p.Ala50Glu) c.61C>A (p.Gln21Lys) c.43C>A (p.Gln15Lys) c.107C>A (p.Ala36Glu) | |
| 10 | g.113697543C>G | CA378416410 | CASP7 | c.50C>G (p.Ala17Gly) c.274C>G (p.Gln92Glu) c.149C>G (p.Ala50Gly) c.61C>G (p.Gln21Glu) c.43C>G (p.Gln15Glu) c.107C>G (p.Ala36Gly) | |
| 10 | g.113697543C>T | CA378416411 | CASP7 | c.50C>T (p.Ala17Val) c.274C>T (p.Gln92Ter) c.149C>T (p.Ala50Val) c.61C>T (p.Gln21Ter) c.43C>T (p.Gln15Ter) c.107C>T (p.Ala36Val) | |
| 10 | g.113697544A= | CA1937479378 | CASP7 | c.51A= (p.Ala17=) c.275A= (p.Gln92=) c.150A= (p.Ala50=) c.62A= (p.Gln21=) c.44A= (p.Gln15=) c.108A= (p.Ala36=) | |
| 10 | g.113697544A>C | CA378416413 | CASP7 | c.51A>C (p.Ala17=) c.275A>C (p.Gln92Pro) c.150A>C (p.Ala50=) c.62A>C (p.Gln21Pro) c.44A>C (p.Gln15Pro) c.108A>C (p.Ala36=) | |
| 10 | g.113697544A>G | CA378416415 | CASP7 | c.51A>G (p.Ala17=) c.275A>G (p.Gln92Arg) c.150A>G (p.Ala50=) c.62A>G (p.Gln21Arg) c.44A>G (p.Gln15Arg) c.108A>G (p.Ala36=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113697544A>T | CA378416419 | CASP7 | c.51A>T (p.Ala17=) c.275A>T (p.Gln92Leu) c.150A>T (p.Ala50=) c.62A>T (p.Gln21Leu) c.44A>T (p.Gln15Leu) c.108A>T (p.Ala36=) | |
| 10 | g.113697545A= | CA1937479379 | CASP7 | c.52A= (p.Asn18=) c.276A= (p.Gln92=) c.151A= (p.Asn51=) c.63A= (p.Gln21=) c.45A= (p.Gln15=) c.109A= (p.Asn37=) | |
| 10 | g.113697545A>C | CA378416421 | CASP7 | c.52A>C (p.Asn18His) c.276A>C (p.Gln92His) c.151A>C (p.Asn51His) c.63A>C (p.Gln21His) c.45A>C (p.Gln15His) c.109A>C (p.Asn37His) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113697545A>G | CA378416423 | CASP7 | c.52A>G (p.Asn18Asp) c.276A>G (p.Gln92=) c.151A>G (p.Asn51Asp) c.63A>G (p.Gln21=) c.45A>G (p.Gln15=) c.109A>G (p.Asn37Asp) | |
| 10 | g.113697545A>T | CA378416425 | CASP7 | c.52A>T (p.Asn18Tyr) c.276A>T (p.Gln92His) c.151A>T (p.Asn51Tyr) c.63A>T (p.Gln21His) c.45A>T (p.Gln15His) c.109A>T (p.Asn37Tyr) | |
| 10 | g.113697546A>C | CA378416431 | CASP7 | c.53A>C (p.Asn18Thr) c.277A>C (p.Met93Leu) c.152A>C (p.Asn51Thr) c.64A>C (p.Met22Leu) c.46A>C (p.Met16Leu) c.110A>C (p.Asn37Thr) | |
| 10 | g.113697546A>G | CA378416429 | CASP7 | c.53A>G (p.Asn18Ser) c.277A>G (p.Met93Val) c.152A>G (p.Asn51Ser) c.64A>G (p.Met22Val) c.46A>G (p.Met16Val) c.110A>G (p.Asn37Ser) | |
| 10 | g.113697546A>T | CA378416427 | CASP7 | c.53A>T (p.Asn18Ile) c.277A>T (p.Met93Leu) c.152A>T (p.Asn51Ile) c.64A>T (p.Met22Leu) c.46A>T (p.Met16Leu) c.110A>T (p.Asn37Ile) | |
| 10 | g.113697547T>A | CA378416433 | CASP7 | c.54T>A (p.Asn18Lys) c.278T>A (p.Met93Lys) c.153T>A (p.Asn51Lys) c.65T>A (p.Met22Lys) c.47T>A (p.Met16Lys) c.111T>A (p.Asn37Lys) | |
| 10 | g.113697547T>C | CA378416435 | CASP7 | c.54T>C (p.Asn18=) c.278T>C (p.Met93Thr) c.153T>C (p.Asn51=) c.65T>C (p.Met22Thr) c.47T>C (p.Met16Thr) c.111T>C (p.Asn37=) | |
| 10 | g.113697547T>G | CA378416437 | CASP7 | c.54T>G (p.Asn18Lys) c.278T>G (p.Met93Arg) c.153T>G (p.Asn51Lys) c.65T>G (p.Met22Arg) c.47T>G (p.Met16Arg) c.111T>G (p.Asn37Lys) | |
| 10 | g.113697547_113697550delinsTGAA | CA1937479380 | CASP7 | c.54_57delinsTGAA (p.Asn18=) c.278_281delinsTGAA (p.Met93=) c.153_156delinsTGAA (p.Asn51=) c.65_68delinsTGAA (p.Met22=) c.47_50delinsTGAA (p.Met16=) c.111_114delinsTGAA (p.Asn37=) | |
| 10 | g.113697548G>A | CA378416438 | CASP7 | c.55G>A (p.Glu19Lys) c.279G>A (p.Met93Ile) c.154G>A (p.Glu52Lys) c.66G>A (p.Met22Ile) c.48G>A (p.Met16Ile) c.112G>A (p.Glu38Lys) | |
| 10 | g.113697548G>C | CA378416440 | CASP7 | c.55G>C (p.Glu19Gln) c.279G>C (p.Met93Ile) c.154G>C (p.Glu52Gln) c.66G>C (p.Met22Ile) c.48G>C (p.Met16Ile) c.112G>C (p.Glu38Gln) | |
| 10 | g.113697548G>T | CA378416442 | CASP7 | c.55G>T (p.Glu19Ter) c.279G>T (p.Met93Ile) c.154G>T (p.Glu52Ter) c.66G>T (p.Met22Ile) c.48G>T (p.Met16Ile) c.112G>T (p.Glu38Ter) | gnomAD v4 |
| 10 | g.113697550_113697552del | CA5696204 | CASP7 | c.57_59del (p.Glu19del) c.281_283del (p.Lys94del) c.156_158del (p.Glu52del) c.68_70del (p.Lys23del) c.50_52del (p.Lys17del) c.114_116del (p.Glu38del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113697549A>C | CA378416444 | CASP7 | c.56A>C (p.Glu19Ala) c.280A>C (p.Lys94Gln) c.155A>C (p.Glu52Ala) c.67A>C (p.Lys23Gln) c.49A>C (p.Lys17Gln) c.113A>C (p.Glu38Ala) | |
| 10 | g.113697549A>G | CA378416445 | CASP7 | c.56A>G (p.Glu19Gly) c.280A>G (p.Lys94Glu) c.155A>G (p.Glu52Gly) c.67A>G (p.Lys23Glu) c.49A>G (p.Lys17Glu) c.113A>G (p.Glu38Gly) | COSMIC |
| 10 | g.113697549A>T | CA378416446 | CASP7 | c.56A>T (p.Glu19Val) c.280A>T (p.Lys94Ter) c.155A>T (p.Glu52Val) c.67A>T (p.Lys23Ter) c.49A>T (p.Lys17Ter) c.113A>T (p.Glu38Val) | |
| 10 | g.113697550A= | CA1937479381 | CASP7 | c.57A= (p.Glu19=) c.281A= (p.Lys94=) c.156A= (p.Glu52=) c.68A= (p.Lys23=) c.50A= (p.Lys17=) c.114A= (p.Glu38=) | |
| 10 | g.113697550A>C | CA378416449 | CASP7 | c.57A>C (p.Glu19Asp) c.281A>C (p.Lys94Thr) c.156A>C (p.Glu52Asp) c.68A>C (p.Lys23Thr) c.50A>C (p.Lys17Thr) c.114A>C (p.Glu38Asp) | |
| 10 | g.113697550A>G | CA378416451 | CASP7 | c.57A>G (p.Glu19=) c.281A>G (p.Lys94Arg) c.156A>G (p.Glu52=) c.68A>G (p.Lys23Arg) c.50A>G (p.Lys17Arg) c.114A>G (p.Glu38=) | dbSNP |
| 10 | g.113697550A>T | CA378416453 | CASP7 | c.57A>T (p.Glu19Asp) c.281A>T (p.Lys94Met) c.156A>T (p.Glu52Asp) c.68A>T (p.Lys23Met) c.50A>T (p.Lys17Met) c.114A>T (p.Glu38Asp) | |
| 10 | g.113697551G>A | CA378416456 | CASP7 | c.58G>A (p.Asp20Asn) c.282G>A (p.Lys94=) c.157G>A (p.Asp53Asn) c.69G>A (p.Lys23=) c.51G>A (p.Lys17=) c.115G>A (p.Asp39Asn) | |
| 10 | g.113697551G>C | CA378416458 | CASP7 | c.58G>C (p.Asp20His) c.282G>C (p.Lys94Asn) c.157G>C (p.Asp53His) c.69G>C (p.Lys23Asn) c.51G>C (p.Lys17Asn) c.115G>C (p.Asp39His) | |
| 10 | g.113697551G>T | CA378416454 | CASP7 | c.58G>T (p.Asp20Tyr) c.282G>T (p.Lys94Asn) c.157G>T (p.Asp53Tyr) c.69G>T (p.Lys23Asn) c.51G>T (p.Lys17Asn) c.115G>T (p.Asp39Tyr) | |
| 10 | g.113697552A>C | CA378416462 | CASP7 | c.59A>C (p.Asp20Ala) c.283A>C (p.Ile95Leu) c.158A>C (p.Asp53Ala) c.70A>C (p.Ile24Leu) c.52A>C (p.Ile18Leu) c.116A>C (p.Asp39Ala) | |
| 10 | g.113697552A>G | CA378416463 | CASP7 | c.59A>G (p.Asp20Gly) c.283A>G (p.Ile95Val) c.158A>G (p.Asp53Gly) c.70A>G (p.Ile24Val) c.52A>G (p.Ile18Val) c.116A>G (p.Asp39Gly) | |
| 10 | g.113697552A>T | CA378416466 | CASP7 | c.59A>T (p.Asp20Val) c.283A>T (p.Ile95Phe) c.158A>T (p.Asp53Val) c.70A>T (p.Ile24Phe) c.52A>T (p.Ile18Phe) c.116A>T (p.Asp39Val) | |
| 10 | g.113697553T>A | CA378416469 | CASP7 | c.60T>A (p.Asp20Glu) c.284T>A (p.Ile95Asn) c.159T>A (p.Asp53Glu) c.71T>A (p.Ile24Asn) c.53T>A (p.Ile18Asn) c.117T>A (p.Asp39Glu) | |
| 10 | g.113697553T>C | CA378416470 | CASP7 | c.60T>C (p.Asp20=) c.284T>C (p.Ile95Thr) c.159T>C (p.Asp53=) c.71T>C (p.Ile24Thr) c.53T>C (p.Ile18Thr) c.117T>C (p.Asp39=) | |
| 10 | g.113697553T>G | CA378416472 | CASP7 | c.60T>G (p.Asp20Glu) c.284T>G (p.Ile95Ser) c.159T>G (p.Asp53Glu) c.71T>G (p.Ile24Ser) c.53T>G (p.Ile18Ser) c.117T>G (p.Asp39Glu) | |
| 10 | g.113697554T>A | CA378416475 | CASP7 | c.61T>A (p.Ser21Thr) c.285T>A (p.Ile95=) c.160T>A (p.Ser54Thr) c.72T>A (p.Ile24=) c.54T>A (p.Ile18=) c.118T>A (p.Ser40Thr) | |
| 10 | g.113697554T>C | CA378416478 | CASP7 | c.61T>C (p.Ser21Pro) c.285T>C (p.Ile95=) c.160T>C (p.Ser54Pro) c.72T>C (p.Ile24=) c.54T>C (p.Ile18=) c.118T>C (p.Ser40Pro) | |
| 10 | g.113697554T>G | CA378416480 | CASP7 | c.61T>G (p.Ser21Ala) c.285T>G (p.Ile95Met) c.160T>G (p.Ser54Ala) c.72T>G (p.Ile24Met) c.54T>G (p.Ile18Met) c.118T>G (p.Ser40Ala) | |
| 10 | g.113697555C>A | CA378416482 | CASP7 | c.62C>A (p.Ser21Ter) c.286C>A (p.Gln96Lys) c.161C>A (p.Ser54Ter) c.73C>A (p.Gln25Lys) c.55C>A (p.Gln19Lys) c.119C>A (p.Ser40Ter) | dbSNP |
| 10 | g.113697555C= | CA1937479382 | CASP7 | c.62C= (p.Ser21=) c.286C= (p.Gln96=) c.161C= (p.Ser54=) c.73C= (p.Gln25=) c.55C= (p.Gln19=) c.119C= (p.Ser40=) | |
| 10 | g.113697555C>G | CA378416485 | CASP7 | c.62C>G (p.Ser21Ter) c.286C>G (p.Gln96Glu) c.161C>G (p.Ser54Ter) c.73C>G (p.Gln25Glu) c.55C>G (p.Gln19Glu) c.119C>G (p.Ser40Ter) | |
| 10 | g.113697555C>T | CA378416487 | CASP7 | c.62C>T (p.Ser21Leu) c.286C>T (p.Gln96Ter) c.161C>T (p.Ser54Leu) c.73C>T (p.Gln25Ter) c.55C>T (p.Gln19Ter) c.119C>T (p.Ser40Leu) | |
| 10 | g.113697556A>C | CA378416492 | CASP7 | c.63A>C (p.Ser21=) c.287A>C (p.Gln96Pro) c.162A>C (p.Ser54=) c.74A>C (p.Gln25Pro) c.56A>C (p.Gln19Pro) c.120A>C (p.Ser40=) | |
| 10 | g.113697556A>G | CA378416495 | CASP7 | c.63A>G (p.Ser21=) c.287A>G (p.Gln96Arg) c.162A>G (p.Ser54=) c.74A>G (p.Gln25Arg) c.56A>G (p.Gln19Arg) c.120A>G (p.Ser40=) | |
| 10 | g.113697556A>T | CA378416489 | CASP7 | c.63A>T (p.Ser21=) c.287A>T (p.Gln96Leu) c.162A>T (p.Ser54=) c.74A>T (p.Gln25Leu) c.56A>T (p.Gln19Leu) c.120A>T (p.Ser40=) | |
| 10 | g.113697557G>A | CA378416497 | CASP7 | c.64G>A (p.Val22Met) c.288G>A (p.Gln96=) c.163G>A (p.Val55Met) c.75G>A (p.Gln25=) c.57G>A (p.Gln19=) c.121G>A (p.Val41Met) | |
| 10 | g.113697557G>C | CA378416498 | CASP7 | c.64G>C (p.Val22Leu) c.288G>C (p.Gln96His) c.163G>C (p.Val55Leu) c.75G>C (p.Gln25His) c.57G>C (p.Gln19His) c.121G>C (p.Val41Leu) | |
| 10 | g.113697557G>T | CA378416500 | CASP7 | c.64G>T (p.Val22Leu) c.288G>T (p.Gln96His) c.163G>T (p.Val55Leu) c.75G>T (p.Gln25His) c.57G>T (p.Gln19His) c.121G>T (p.Val41Leu) | |
| 10 | g.113697558T>A | CA378416503 | CASP7 | c.65T>A (p.Val22Glu) c.289T>A (p.Trp97Arg) c.164T>A (p.Val55Glu) c.76T>A (p.Trp26Arg) c.58T>A (p.Trp20Arg) c.122T>A (p.Val41Glu) | |
| 10 | g.113697558T>C | CA378416504 | CASP7 | c.65T>C (p.Val22Ala) c.289T>C (p.Trp97Arg) c.164T>C (p.Val55Ala) c.76T>C (p.Trp26Arg) c.58T>C (p.Trp20Arg) c.122T>C (p.Val41Ala) | |
| 10 | g.113697558T>G | CA378416506 | CASP7 | c.65T>G (p.Val22Gly) c.289T>G (p.Trp97Gly) c.164T>G (p.Val55Gly) c.76T>G (p.Trp26Gly) c.58T>G (p.Trp20Gly) c.122T>G (p.Val41Gly) | |
| 10 | g.113697559G>A | CA378416514 | CASP7 | c.66G>A (p.Val22=) c.290G>A (p.Trp97Ter) c.165G>A (p.Val55=) c.77G>A (p.Trp26Ter) c.59G>A (p.Trp20Ter) c.123G>A (p.Val41=) | |
| 10 | g.113697559G>C | CA378416510 | CASP7 | c.66G>C (p.Val22=) c.290G>C (p.Trp97Ser) c.165G>C (p.Val55=) c.77G>C (p.Trp26Ser) c.59G>C (p.Trp20Ser) c.123G>C (p.Val41=) | |
| 10 | g.113697559G>T | CA378416511 | CASP7 | c.66G>T (p.Val22=) c.290G>T (p.Trp97Leu) c.165G>T (p.Val55=) c.77G>T (p.Trp26Leu) c.59G>T (p.Trp20Leu) c.123G>T (p.Val41=) | |
| 10 | g.113697560G>A | CA378416516 | CASP7 | c.67G>A (p.Asp23Asn) c.291G>A (p.Trp97Ter) c.166G>A (p.Asp56Asn) c.78G>A (p.Trp26Ter) c.60G>A (p.Trp20Ter) c.124G>A (p.Asp42Asn) | |
| 10 | g.113697560G>C | CA378416518 | CASP7 | c.67G>C (p.Asp23His) c.291G>C (p.Trp97Cys) c.166G>C (p.Asp56His) c.78G>C (p.Trp26Cys) c.60G>C (p.Trp20Cys) c.124G>C (p.Asp42His) | |
| 10 | g.113697560G>T | CA378416521 | CASP7 | c.67G>T (p.Asp23Tyr) c.291G>T (p.Trp97Cys) c.166G>T (p.Asp56Tyr) c.78G>T (p.Trp26Cys) c.60G>T (p.Trp20Cys) c.124G>T (p.Asp42Tyr) | gnomAD v4 |
| 10 | g.113697561A>C | CA378416526 | CASP7 | c.68A>C (p.Asp23Ala) c.292A>C (p.Met98Leu) c.167A>C (p.Asp56Ala) c.79A>C (p.Met27Leu) c.61A>C (p.Met21Leu) c.125A>C (p.Asp42Ala) | |
| 10 | g.113697561A>G | CA378416529 | CASP7 | c.68A>G (p.Asp23Gly) c.292A>G (p.Met98Val) c.167A>G (p.Asp56Gly) c.79A>G (p.Met27Val) c.61A>G (p.Met21Val) c.125A>G (p.Asp42Gly) | |
| 10 | g.113697561A>T | CA378416531 | CASP7 | c.68A>T (p.Asp23Val) c.292A>T (p.Met98Leu) c.167A>T (p.Asp56Val) c.79A>T (p.Met27Leu) c.61A>T (p.Met21Leu) c.125A>T (p.Asp42Val) | |
| 10 | g.113697562T>A | CA378416539 | CASP7 | c.69T>A (p.Asp23Glu) c.293T>A (p.Met98Lys) c.168T>A (p.Asp56Glu) c.80T>A (p.Met27Lys) c.62T>A (p.Met21Lys) c.126T>A (p.Asp42Glu) | dbSNP gnomAD v4 |
| 10 | g.113697562T>C | CA378416541 | CASP7 | c.69T>C (p.Asp23=) c.293T>C (p.Met98Thr) c.168T>C (p.Asp56=) c.80T>C (p.Met27Thr) c.62T>C (p.Met21Thr) c.126T>C (p.Asp42=) | gnomAD v4 |
| 10 | g.113697562T>G | CA378416534 | CASP7 | c.69T>G (p.Asp23Glu) c.293T>G (p.Met98Arg) c.168T>G (p.Asp56Glu) c.80T>G (p.Met27Arg) c.62T>G (p.Met21Arg) c.126T>G (p.Asp42Glu) | |
| 10 | g.113697562T= | CA1937479383 | CASP7 | c.69T= (p.Asp23=) c.293T= (p.Met98=) c.168T= (p.Asp56=) c.80T= (p.Met27=) c.62T= (p.Met21=) c.126T= (p.Asp42=) | |
| 10 | g.113697563G>A | CA378416549 | CASP7 | c.70G>A (p.Ala24Thr) c.294G>A (p.Met98Ile) c.169G>A (p.Ala57Thr) c.81G>A (p.Met27Ile) c.63G>A (p.Met21Ile) c.127G>A (p.Ala43Thr) | gnomAD v4 |
| 10 | g.113697563G>C | CA378416544 | CASP7 | c.70G>C (p.Ala24Pro) c.294G>C (p.Met98Ile) c.169G>C (p.Ala57Pro) c.81G>C (p.Met27Ile) c.63G>C (p.Met21Ile) c.127G>C (p.Ala43Pro) | |
| 10 | g.113697563G>T | CA378416546 | CASP7 | c.70G>T (p.Ala24Ser) c.294G>T (p.Met98Ile) c.169G>T (p.Ala57Ser) c.81G>T (p.Met27Ile) c.63G>T (p.Met21Ile) c.127G>T (p.Ala43Ser) | |
| 10 | g.113697564C>A | CA378416552 | CASP7 | c.71C>A (p.Ala24Asp) c.295C>A (p.Leu99Ile) c.170C>A (p.Ala57Asp) c.82C>A (p.Leu28Ile) c.64C>A (p.Leu22Ile) c.128C>A (p.Ala43Asp) | |
| 10 | g.113697564C>G | CA378416554 | CASP7 | c.71C>G (p.Ala24Gly) c.295C>G (p.Leu99Val) c.170C>G (p.Ala57Gly) c.82C>G (p.Leu28Val) c.64C>G (p.Leu22Val) c.128C>G (p.Ala43Gly) | |
| 10 | g.113697564C>T | CA378416557 | CASP7 | c.71C>T (p.Ala24Val) c.295C>T (p.Leu99=) c.170C>T (p.Ala57Val) c.82C>T (p.Leu28=) c.64C>T (p.Leu22=) c.128C>T (p.Ala43Val) | |
| 10 | g.113697565T>A | CA378416562 | CASP7 | c.72T>A (p.Ala24=) c.296T>A (p.Leu99Gln) c.171T>A (p.Ala57=) c.83T>A (p.Leu28Gln) c.65T>A (p.Leu22Gln) c.129T>A (p.Ala43=) | |
| 10 | g.113697565T>C | CA378416561 | CASP7 | c.72T>C (p.Ala24=) c.296T>C (p.Leu99Pro) c.171T>C (p.Ala57=) c.83T>C (p.Leu28Pro) c.65T>C (p.Leu22Pro) c.129T>C (p.Ala43=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.113697565T>G | CA378416559 | CASP7 | c.72T>G (p.Ala24=) c.296T>G (p.Leu99Arg) c.171T>G (p.Ala57=) c.83T>G (p.Leu28Arg) c.65T>G (p.Leu22Arg) c.129T>G (p.Ala43=) | |
| 10 | g.113697565T= | CA1937479384 | CASP7 | c.72T= (p.Ala24=) c.296T= (p.Leu99=) c.171T= (p.Ala57=) c.83T= (p.Leu28=) c.65T= (p.Leu22=) c.129T= (p.Ala43=) | |
| 10 | g.113697566A>C | CA378416563 | CASP7 | c.73A>C (p.Lys25Gln) c.297A>C (p.Leu99=) c.172A>C (p.Lys58Gln) c.84A>C (p.Leu28=) c.66A>C (p.Leu22=) c.130A>C (p.Lys44Gln) | |
| 10 | g.113697566A>G | CA378416565 | CASP7 | c.73A>G (p.Lys25Glu) c.297A>G (p.Leu99=) c.172A>G (p.Lys58Glu) c.84A>G (p.Leu28=) c.66A>G (p.Leu22=) c.130A>G (p.Lys44Glu) | |
| 10 | g.113697566A>T | CA378416566 | CASP7 | c.73A>T (p.Lys25Ter) c.297A>T (p.Leu99=) c.172A>T (p.Lys58Ter) c.84A>T (p.Leu28=) c.66A>T (p.Leu22=) c.130A>T (p.Lys44Ter) | |
| 10 | g.113697567A>C | CA378416568 | CASP7 | c.74A>C (p.Lys25Thr) c.298A>C (p.Ser100Arg) c.173A>C (p.Lys58Thr) c.85A>C (p.Ser29Arg) c.67A>C (p.Ser23Arg) c.131A>C (p.Lys44Thr) | |
| 10 | g.113697567A>G | CA378416570 | CASP7 | c.74A>G (p.Lys25Arg) c.298A>G (p.Ser100Gly) c.173A>G (p.Lys58Arg) c.85A>G (p.Ser29Gly) c.67A>G (p.Ser23Gly) c.131A>G (p.Lys44Arg) | gnomAD v4 |
| 10 | g.113697567A>T | CA378416572 | CASP7 | c.74A>T (p.Lys25Met) c.298A>T (p.Ser100Cys) c.173A>T (p.Lys58Met) c.85A>T (p.Ser29Cys) c.67A>T (p.Ser23Cys) c.131A>T (p.Lys44Met) | |
| 10 | g.113697568G>A | CA378416577 | CASP7 | c.75G>A (p.Lys25=) c.299G>A (p.Ser100Asn) c.174G>A (p.Lys58=) c.86G>A (p.Ser29Asn) c.68G>A (p.Ser23Asn) c.132G>A (p.Lys44=) | |
| 10 | g.113697568G>C | CA378416575 | CASP7 | c.75G>C (p.Lys25Asn) c.299G>C (p.Ser100Thr) c.174G>C (p.Lys58Asn) c.86G>C (p.Ser29Thr) c.68G>C (p.Ser23Thr) c.132G>C (p.Lys44Asn) | |
| 10 | g.113697568G>T | CA378416576 | CASP7 | c.75G>T (p.Lys25Asn) c.299G>T (p.Ser100Ile) c.174G>T (p.Lys58Asn) c.86G>T (p.Ser29Ile) c.68G>T (p.Ser23Ile) c.132G>T (p.Lys44Asn) | |
| 10 | g.113697569C>A | CA378416579 | CASP7 | c.76C>A (p.Pro26Thr) c.300C>A (p.Ser100Arg) c.175C>A (p.Pro59Thr) c.87C>A (p.Ser29Arg) c.69C>A (p.Ser23Arg) c.133C>A (p.Pro45Thr) | |
| 10 | g.113697569C>G | CA378416580 | CASP7 | c.76C>G (p.Pro26Ala) c.300C>G (p.Ser100Arg) c.175C>G (p.Pro59Ala) c.87C>G (p.Ser29Arg) c.69C>G (p.Ser23Arg) c.133C>G (p.Pro45Ala) | |
| 10 | g.113697569C>T | CA378416582 | CASP7 | c.76C>T (p.Pro26Ser) c.300C>T (p.Ser100=) c.175C>T (p.Pro59Ser) c.87C>T (p.Ser29=) c.69C>T (p.Ser23=) c.133C>T (p.Pro45Ser) | |
| 10 | g.113697570C>A | CA378416585 | CASP7 | c.77C>A (p.Pro26Gln) c.301C>A (p.Gln101Lys) c.176C>A (p.Pro59Gln) c.88C>A (p.Gln30Lys) c.70C>A (p.Gln24Lys) c.134C>A (p.Pro45Gln) | gnomAD v4 |
| 10 | g.113697570C>G | CA378416586 | CASP7 | c.77C>G (p.Pro26Arg) c.301C>G (p.Gln101Glu) c.176C>G (p.Pro59Arg) c.88C>G (p.Gln30Glu) c.70C>G (p.Gln24Glu) c.134C>G (p.Pro45Arg) | |
| 10 | g.113697570C>T | CA378416587 | CASP7 | c.77C>T (p.Pro26Leu) c.301C>T (p.Gln101Ter) c.176C>T (p.Pro59Leu) c.88C>T (p.Gln30Ter) c.70C>T (p.Gln24Ter) c.134C>T (p.Pro45Leu) | gnomAD v4 |
| 10 | g.113697571A= | CA1937479385 | CASP7 | c.78A= (p.Pro26=) c.302A= (p.Gln101=) c.177A= (p.Pro59=) c.89A= (p.Gln30=) c.71A= (p.Gln24=) c.135A= (p.Pro45=) | |
| 10 | g.113697571A>C | CA378416590 | CASP7 | c.78A>C (p.Pro26=) c.302A>C (p.Gln101Pro) c.177A>C (p.Pro59=) c.89A>C (p.Gln30Pro) c.71A>C (p.Gln24Pro) c.135A>C (p.Pro45=) | |
| 10 | g.113697571A>G | CA5696205 | CASP7 | c.78A>G (p.Pro26=) c.302A>G (p.Gln101Arg) c.177A>G (p.Pro59=) c.89A>G (p.Gln30Arg) c.71A>G (p.Gln24Arg) c.135A>G (p.Pro45=) | dbSNP ExAC gnomAD v2 |
| 10 | g.113697571A>T | CA378416592 | CASP7 | c.78A>T (p.Pro26=) c.302A>T (p.Gln101Leu) c.177A>T (p.Pro59=) c.89A>T (p.Gln30Leu) c.71A>T (p.Gln24Leu) c.135A>T (p.Pro45=) | |
| 10 | g.113697572G>A | CA378416597 | CASP7 | c.79G>A (p.Asp27Asn) c.303G>A (p.Gln101=) c.178G>A (p.Asp60Asn) c.90G>A (p.Gln30=) c.72G>A (p.Gln24=) c.136G>A (p.Asp46Asn) | gnomAD v4 |
| 10 | g.113697572G>C | CA378416599 | CASP7 | c.79G>C (p.Asp27His) c.303G>C (p.Gln101His) c.178G>C (p.Asp60His) c.90G>C (p.Gln30His) c.72G>C (p.Gln24His) c.136G>C (p.Asp46His) | |
| 10 | g.113697572G>T | CA378416600 | CASP7 | c.79G>T (p.Asp27Tyr) c.303G>T (p.Gln101His) c.178G>T (p.Asp60Tyr) c.90G>T (p.Gln30His) c.72G>T (p.Gln24His) c.136G>T (p.Asp46Tyr) | |
| 10 | g.113697573A>C | CA378416602 | CASP7 | c.80A>C (p.Asp27Ala) c.304A>C (p.Thr102Pro) c.179A>C (p.Asp60Ala) c.91A>C (p.Thr31Pro) c.73A>C (p.Thr25Pro) c.137A>C (p.Asp46Ala) | |
| 10 | g.113697573A>G | CA378416606 | CASP7 | c.80A>G (p.Asp27Gly) c.304A>G (p.Thr102Ala) c.179A>G (p.Asp60Gly) c.91A>G (p.Thr31Ala) c.73A>G (p.Thr25Ala) c.137A>G (p.Asp46Gly) | |
| 10 | g.113697573A>T | CA378416604 | CASP7 | c.80A>T (p.Asp27Val) c.304A>T (p.Thr102Ser) c.179A>T (p.Asp60Val) c.91A>T (p.Thr31Ser) c.73A>T (p.Thr25Ser) c.137A>T (p.Asp46Val) | |
| 10 | g.113697574C>A | CA378416607 | CASP7 | c.81C>A (p.Asp27Glu) c.305C>A (p.Thr102Asn) c.180C>A (p.Asp60Glu) c.92C>A (p.Thr31Asn) c.74C>A (p.Thr25Asn) c.138C>A (p.Asp46Glu) | |
| 10 | g.113697574C>G | CA378416609 | CASP7 | c.81C>G (p.Asp27Glu) c.305C>G (p.Thr102Ser) c.180C>G (p.Asp60Glu) c.92C>G (p.Thr31Ser) c.74C>G (p.Thr25Ser) c.138C>G (p.Asp46Glu) | |
| 10 | g.113697574C>T | CA378416612 | CASP7 | c.81C>T (p.Asp27=) c.305C>T (p.Thr102Ile) c.180C>T (p.Asp60=) c.92C>T (p.Thr31Ile) c.74C>T (p.Thr25Ile) c.138C>T (p.Asp46=) | |
| 10 | g.113697575C>A | CA5696207 | CASP7 | c.82C>A (p.Arg28=) c.306C>A (p.Thr102=) c.181C>A (p.Arg61=) c.93C>A (p.Thr31=) c.75C>A (p.Thr25=) c.139C>A (p.Arg47=) | dbSNP ExAC gnomAD v2 |
| 10 | g.113697575C= | CA1937479386 | CASP7 | c.82C= (p.Arg28=) c.306C= (p.Thr102=) c.181C= (p.Arg61=) c.93C= (p.Thr31=) c.75C= (p.Thr25=) c.139C= (p.Arg47=) | |
| 10 | g.113697575C>G | CA378416616 | CASP7 | c.82C>G (p.Arg28Gly) c.306C>G (p.Thr102=) c.181C>G (p.Arg61Gly) c.93C>G (p.Thr31=) c.75C>G (p.Thr25=) c.139C>G (p.Arg47Gly) | gnomAD v4 |
| 10 | g.113697575C>T | CA5696206 | CASP7 | c.82C>T (p.Arg28Trp) c.306C>T (p.Thr102=) c.181C>T (p.Arg61Trp) c.93C>T (p.Thr31=) c.75C>T (p.Thr25=) c.139C>T (p.Arg47Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113697576G>A | CA5696208 | CASP7 | c.83G>A (p.Arg28Gln) c.307G>A (p.Gly103Ser) c.182G>A (p.Arg61Gln) c.94G>A (p.Gly32Ser) c.76G>A (p.Gly26Ser) c.140G>A (p.Arg47Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113697576G>C | CA378416619 | CASP7 | c.83G>C (p.Arg28Pro) c.307G>C (p.Gly103Arg) c.182G>C (p.Arg61Pro) c.94G>C (p.Gly32Arg) c.76G>C (p.Gly26Arg) c.140G>C (p.Arg47Pro) | gnomAD v4 |
| 10 | g.113697576G= | CA1937479387 | CASP7 | c.83G= (p.Arg28=) c.307G= (p.Gly103=) c.182G= (p.Arg61=) c.94G= (p.Gly32=) c.76G= (p.Gly26=) c.140G= (p.Arg47=) | |
| 10 | g.113697576G>T | CA378416620 | CASP7 | c.83G>T (p.Arg28Leu) c.307G>T (p.Gly103Cys) c.182G>T (p.Arg61Leu) c.94G>T (p.Gly32Cys) c.76G>T (p.Gly26Cys) c.140G>T (p.Arg47Leu) | |
| 10 | g.113697577G>A | CA378416621 | CASP7 | c.84G>A (p.Arg28=) c.308G>A (p.Gly103Asp) c.183G>A (p.Arg61=) c.95G>A (p.Gly32Asp) c.77G>A (p.Gly26Asp) c.141G>A (p.Arg47=) | dbSNP |
| 10 | g.113697577G>C | CA378416622 | CASP7 | c.84G>C (p.Arg28=) c.308G>C (p.Gly103Ala) c.183G>C (p.Arg61=) c.95G>C (p.Gly32Ala) c.77G>C (p.Gly26Ala) c.141G>C (p.Arg47=) | |
| 10 | g.113697577G= | CA1937479388 | CASP7 | c.84G= (p.Arg28=) c.308G= (p.Gly103=) c.183G= (p.Arg61=) c.95G= (p.Gly32=) c.77G= (p.Gly26=) c.141G= (p.Arg47=) | |
| 10 | g.113697577G>T | CA378416623 | CASP7 | c.84G>T (p.Arg28=) c.308G>T (p.Gly103Val) c.183G>T (p.Arg61=) c.95G>T (p.Gly32Val) c.77G>T (p.Gly26Val) c.141G>T (p.Arg47=) | |
| 10 | g.113697578T>A | CA378416628 | CASP7 | c.85T>A (p.Ser29Thr) c.309T>A (p.Gly103=) c.184T>A (p.Ser62Thr) c.96T>A (p.Gly32=) c.78T>A (p.Gly26=) c.142T>A (p.Ser48Thr) | |
| 10 | g.113697578T>C | CA378416625 | CASP7 | c.85T>C (p.Ser29Pro) c.309T>C (p.Gly103=) c.184T>C (p.Ser62Pro) c.96T>C (p.Gly32=) c.78T>C (p.Gly26=) c.142T>C (p.Ser48Pro) | |
| 10 | g.113697578T>G | CA378416627 | CASP7 | c.85T>G (p.Ser29Ala) c.309T>G (p.Gly103=) c.184T>G (p.Ser62Ala) c.96T>G (p.Gly32=) c.78T>G (p.Gly26=) c.142T>G (p.Ser48Ala) | |
| 10 | g.113697579C>A | CA378416631 | CASP7 | c.86C>A (p.Ser29Tyr) c.310C>A (p.Pro104Thr) c.185C>A (p.Ser62Tyr) c.97C>A (p.Pro33Thr) c.79C>A (p.Pro27Thr) c.143C>A (p.Ser48Tyr) | |
| 10 | g.113697579C= | CA1937479389 | CASP7 | c.86C= (p.Ser29=) c.310C= (p.Pro104=) c.185C= (p.Ser62=) c.97C= (p.Pro33=) c.79C= (p.Pro27=) c.143C= (p.Ser48=) | |
| 10 | g.113697579C>G | CA378416632 | CASP7 | c.86C>G (p.Ser29Cys) c.310C>G (p.Pro104Ala) c.185C>G (p.Ser62Cys) c.97C>G (p.Pro33Ala) c.79C>G (p.Pro27Ala) c.143C>G (p.Ser48Cys) | |
| 10 | g.113697579C>T | CA378416634 | CASP7 | c.86C>T (p.Ser29Phe) c.310C>T (p.Pro104Ser) c.185C>T (p.Ser62Phe) c.97C>T (p.Pro33Ser) c.79C>T (p.Pro27Ser) c.143C>T (p.Ser48Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113697580C>A | CA378416637 | CASP7 | c.87C>A (p.Ser29=) c.311C>A (p.Pro104His) c.186C>A (p.Ser62=) c.98C>A (p.Pro33His) c.80C>A (p.Pro27His) c.144C>A (p.Ser48=) | |
| 10 | g.113697580C>G | CA378416640 | CASP7 | c.87C>G (p.Ser29=) c.311C>G (p.Pro104Arg) c.186C>G (p.Ser62=) c.98C>G (p.Pro33Arg) c.80C>G (p.Pro27Arg) c.144C>G (p.Ser48=) | |
| 10 | g.113697580C>T | CA378416642 | CASP7 | c.87C>T (p.Ser29=) c.311C>T (p.Pro104Leu) c.186C>T (p.Ser62=) c.98C>T (p.Pro33Leu) c.80C>T (p.Pro27Leu) c.144C>T (p.Ser48=) | gnomAD v4 |
| 10 | g.113697581T>A | CA378416644 | CASP7 | c.88T>A (p.Ser30Thr) c.312T>A (p.Pro104=) c.187T>A (p.Ser63Thr) c.99T>A (p.Pro33=) c.81T>A (p.Pro27=) c.145T>A (p.Ser49Thr) | |
| 10 | g.113697581T>C | CA378416646 | CASP7 | c.88T>C (p.Ser30Pro) c.312T>C (p.Pro104=) c.187T>C (p.Ser63Pro) c.99T>C (p.Pro33=) c.81T>C (p.Pro27=) c.145T>C (p.Ser49Pro) | |
| 10 | g.113697581T>G | CA378416649 | CASP7 | c.88T>G (p.Ser30Ala) c.312T>G (p.Pro104=) c.187T>G (p.Ser63Ala) c.99T>G (p.Pro33=) c.81T>G (p.Pro27=) c.145T>G (p.Ser49Ala) | |
| 10 | g.113697582C>A | CA378416651 | CASP7 | c.89C>A (p.Ser30Ter) c.313C>A (p.Arg105Ser) c.188C>A (p.Ser63Ter) c.100C>A (p.Arg34Ser) c.82C>A (p.Arg28Ser) c.146C>A (p.Ser49Ter) | |
| 10 | g.113697582C= | CA1937479390 | CASP7 | c.89C= (p.Ser30=) c.313C= (p.Arg105=) c.188C= (p.Ser63=) c.100C= (p.Arg34=) c.82C= (p.Arg28=) c.146C= (p.Ser49=) | |
| 10 | g.113697582C>G | CA378416652 | CASP7 | c.89C>G (p.Ser30Trp) c.313C>G (p.Arg105Gly) c.188C>G (p.Ser63Trp) c.100C>G (p.Arg34Gly) c.82C>G (p.Arg28Gly) c.146C>G (p.Ser49Trp) | |
| 10 | g.113697582C>T | CA5696209 | CASP7 | c.89C>T (p.Ser30Leu) c.313C>T (p.Arg105Cys) c.188C>T (p.Ser63Leu) c.100C>T (p.Arg34Cys) c.82C>T (p.Arg28Cys) c.146C>T (p.Ser49Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113697583G>A | CA5696210 | CASP7 | c.90G>A (p.Ser30=) c.314G>A (p.Arg105His) c.189G>A (p.Ser63=) c.101G>A (p.Arg34His) c.83G>A (p.Arg28His) c.147G>A (p.Ser49=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.113697583G>C | CA378416658 | CASP7 | c.90G>C (p.Ser30=) c.314G>C (p.Arg105Pro) c.189G>C (p.Ser63=) c.101G>C (p.Arg34Pro) c.83G>C (p.Arg28Pro) c.147G>C (p.Ser49=) | |
| 10 | g.113697583G= | CA1937479391 | CASP7 | c.90G= (p.Ser30=) c.314G= (p.Arg105=) c.189G= (p.Ser63=) c.101G= (p.Arg34=) c.83G= (p.Arg28=) c.147G= (p.Ser49=) | |
| 10 | g.113697583G>T | CA378416655 | CASP7 | c.90G>T (p.Ser30=) c.314G>T (p.Arg105Leu) c.189G>T (p.Ser63=) c.101G>T (p.Arg34Leu) c.83G>T (p.Arg28Leu) c.147G>T (p.Ser49=) | gnomAD v4 |
| 10 | g.113697584T>A | CA378416670 | CASP7 | c.91T>A (p.Phe31Ile) c.315T>A (p.Arg105=) c.190T>A (p.Phe64Ile) c.102T>A (p.Arg34=) c.84T>A (p.Arg28=) c.148T>A (p.Phe50Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113697584T>C | CA378416666 | CASP7 | c.91T>C (p.Phe31Leu) c.315T>C (p.Arg105=) c.190T>C (p.Phe64Leu) c.102T>C (p.Arg34=) c.84T>C (p.Arg28=) c.148T>C (p.Phe50Leu) | |
| 10 | g.113697584T>G | CA378416671 | CASP7 | c.91T>G (p.Phe31Val) c.315T>G (p.Arg105=) c.190T>G (p.Phe64Val) c.102T>G (p.Arg34=) c.84T>G (p.Arg28=) c.148T>G (p.Phe50Val) | |
| 10 | g.113697584T= | CA1937479392 | CASP7 | c.91T= (p.Phe31=) c.315T= (p.Arg105=) c.190T= (p.Phe64=) c.102T= (p.Arg34=) c.84T= (p.Arg28=) c.148T= (p.Phe50=) | |
| 10 | g.113697585T>A | CA378416674 | CASP7 | c.92T>A (p.Phe31Tyr) c.316T>A (p.Leu106Met) c.191T>A (p.Phe64Tyr) c.103T>A (p.Leu35Met) c.85T>A (p.Leu29Met) c.149T>A (p.Phe50Tyr) | |
| 10 | g.113697585T>C | CA378416676 | CASP7 | c.92T>C (p.Phe31Ser) c.316T>C (p.Leu106=) c.191T>C (p.Phe64Ser) c.103T>C (p.Leu35=) c.85T>C (p.Leu29=) c.149T>C (p.Phe50Ser) | |
| 10 | g.113697585T>G | CA378416678 | CASP7 | c.92T>G (p.Phe31Cys) c.316T>G (p.Leu106Val) c.191T>G (p.Phe64Cys) c.103T>G (p.Leu35Val) c.85T>G (p.Leu29Val) c.149T>G (p.Phe50Cys) | |
| 10 | g.113697586T>A | CA378416681 | CASP7 | c.93T>A (p.Phe31Leu) c.317T>A (p.Leu106Ter) c.192T>A (p.Phe64Leu) c.104T>A (p.Leu35Ter) c.86T>A (p.Leu29Ter) c.150T>A (p.Phe50Leu) | |
| 10 | g.113697586T>C | CA378416682 | CASP7 | c.93T>C (p.Phe31=) c.317T>C (p.Leu106Ser) c.192T>C (p.Phe64=) c.104T>C (p.Leu35Ser) c.86T>C (p.Leu29Ser) c.150T>C (p.Phe50=) | |
| 10 | g.113697586T>G | CA378416685 | CASP7 | c.93T>G (p.Phe31Leu) c.317T>G (p.Leu106Trp) c.192T>G (p.Phe64Leu) c.104T>G (p.Leu35Trp) c.86T>G (p.Leu29Trp) c.150T>G (p.Phe50Leu) | |
| 10 | g.113697587G>A | CA378416688 | CASP7 | c.94G>A (p.Val32Ile) c.318G>A (p.Leu106=) c.193G>A (p.Val65Ile) c.105G>A (p.Leu35=) c.87G>A (p.Leu29=) c.151G>A (p.Val51Ile) | gnomAD v4 |
| 10 | g.113697587G>C | CA378416689 | CASP7 | c.94G>C (p.Val32Leu) c.318G>C (p.Leu106Phe) c.193G>C (p.Val65Leu) c.105G>C (p.Leu35Phe) c.87G>C (p.Leu29Phe) c.151G>C (p.Val51Leu) | |
| 10 | g.113697587G= | CA1937479393 | CASP7 | c.94G= (p.Val32=) c.318G= (p.Leu106=) c.193G= (p.Val65=) c.105G= (p.Leu35=) c.87G= (p.Leu29=) c.151G= (p.Val51=) | |
| 10 | g.113697587G>T | CA5696211 | CASP7 | c.94G>T (p.Val32Leu) c.318G>T (p.Leu106Phe) c.193G>T (p.Val65Leu) c.105G>T (p.Leu35Phe) c.87G>T (p.Leu29Phe) c.151G>T (p.Val51Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113697588T>A | CA378416692 | CASP7 | c.95T>A (p.Val32Glu) c.319T>A (p.Tyr107Asn) c.194T>A (p.Val65Glu) c.106T>A (p.Tyr36Asn) c.88T>A (p.Tyr30Asn) c.152T>A (p.Val51Glu) | |
| 10 | g.113697588T>C | CA378416695 | CASP7 | c.95T>C (p.Val32Ala) c.319T>C (p.Tyr107His) c.194T>C (p.Val65Ala) c.106T>C (p.Tyr36His) c.88T>C (p.Tyr30His) c.152T>C (p.Val51Ala) | |
| 10 | g.113697588T>G | CA378416698 | CASP7 | c.95T>G (p.Val32Gly) c.319T>G (p.Tyr107Asp) c.194T>G (p.Val65Gly) c.106T>G (p.Tyr36Asp) c.88T>G (p.Tyr30Asp) c.152T>G (p.Val51Gly) | |
| 10 | g.113697589A>C | CA378416705 | CASP7 | c.96A>C (p.Val32=) c.320A>C (p.Tyr107Ser) c.195A>C (p.Val65=) c.107A>C (p.Tyr36Ser) c.89A>C (p.Tyr30Ser) c.153A>C (p.Val51=) | |
| 10 | g.113697589A>G | CA378416702 | CASP7 | c.96A>G (p.Val32=) c.320A>G (p.Tyr107Cys) c.195A>G (p.Val65=) c.107A>G (p.Tyr36Cys) c.89A>G (p.Tyr30Cys) c.153A>G (p.Val51=) | |
| 10 | g.113697589A>T | CA378416700 | CASP7 | c.96A>T (p.Val32=) c.320A>T (p.Tyr107Phe) c.195A>T (p.Val65=) c.107A>T (p.Tyr36Phe) c.89A>T (p.Tyr30Phe) c.153A>T (p.Val51=) | |
| 10 | g.113697590C>A | CA378416709 | CASP7 | c.97C>A (p.Pro33Thr) c.321C>A (p.Tyr107Ter) c.196C>A (p.Pro66Thr) c.108C>A (p.Tyr36Ter) c.90C>A (p.Tyr30Ter) c.154C>A (p.Pro52Thr) | |
| 10 | g.113697590C= | CA1937479394 | CASP7 | c.97C= (p.Pro33=) c.321C= (p.Tyr107=) c.196C= (p.Pro66=) c.108C= (p.Tyr36=) c.90C= (p.Tyr30=) c.154C= (p.Pro52=) | |
| 10 | g.113697590C>G | CA378416711 | CASP7 | c.97C>G (p.Pro33Ala) c.321C>G (p.Tyr107Ter) c.196C>G (p.Pro66Ala) c.108C>G (p.Tyr36Ter) c.90C>G (p.Tyr30Ter) c.154C>G (p.Pro52Ala) | |
| 10 | g.113697590C>T | CA378416713 | CASP7 | c.97C>T (p.Pro33Ser) c.321C>T (p.Tyr107=) c.196C>T (p.Pro66Ser) c.108C>T (p.Tyr36=) c.90C>T (p.Tyr30=) c.154C>T (p.Pro52Ser) | dbSNP gnomAD v4 |
| 10 | g.113697591C>A | CA378416715 | CASP7 | c.98C>A (p.Pro33Gln) c.322C>A (p.Arg108Ser) c.197C>A (p.Pro66Gln) c.109C>A (p.Arg37Ser) c.91C>A (p.Arg31Ser) c.155C>A (p.Pro52Gln) | |
| 10 | g.113697591C= | CA1937479395 | CASP7 | c.98C= (p.Pro33=) c.322C= (p.Arg108=) c.197C= (p.Pro66=) c.109C= (p.Arg37=) c.91C= (p.Arg31=) c.155C= (p.Pro52=) | |
| 10 | g.113697591C>G | CA378416717 | CASP7 | c.98C>G (p.Pro33Arg) c.322C>G (p.Arg108Gly) c.197C>G (p.Pro66Arg) c.109C>G (p.Arg37Gly) c.91C>G (p.Arg31Gly) c.155C>G (p.Pro52Arg) | |
| 10 | g.113697591C>T | CA5696212 | CASP7 | c.98C>T (p.Pro33Leu) c.322C>T (p.Arg108Cys) c.197C>T (p.Pro66Leu) c.109C>T (p.Arg37Cys) c.91C>T (p.Arg31Cys) c.155C>T (p.Pro52Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113697592G>A | CA378416723 | CASP7 | c.99G>A (p.Pro33=) c.323G>A (p.Arg108His) c.198G>A (p.Pro66=) c.110G>A (p.Arg37His) c.92G>A (p.Arg31His) c.156G>A (p.Pro52=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.113697592G>C | CA378416725 | CASP7 | c.99G>C (p.Pro33=) c.323G>C (p.Arg108Pro) c.198G>C (p.Pro66=) c.110G>C (p.Arg37Pro) c.92G>C (p.Arg31Pro) c.156G>C (p.Pro52=) | dbSNP |
| 10 | g.113697592G= | CA1937479396 | CASP7 | c.99G= (p.Pro33=) c.323G= (p.Arg108=) c.198G= (p.Pro66=) c.110G= (p.Arg37=) c.92G= (p.Arg31=) c.156G= (p.Pro52=) | |
| 10 | g.113697592G>T | CA378416729 | CASP7 | c.99G>T (p.Pro33=) c.323G>T (p.Arg108Leu) c.198G>T (p.Pro66=) c.110G>T (p.Arg37Leu) c.92G>T (p.Arg31Leu) c.156G>T (p.Pro52=) | |
| 10 | g.113697593T>A | CA214446940 | CASP7 | c.100T>A (p.Ser34Thr) c.324T>A (p.Arg108=) c.199T>A (p.Ser67Thr) c.111T>A (p.Arg37=) c.93T>A (p.Arg31=) c.157T>A (p.Ser53Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113697593T>C | CA378416732 | CASP7 | c.100T>C (p.Ser34Pro) c.324T>C (p.Arg108=) c.199T>C (p.Ser67Pro) c.111T>C (p.Arg37=) c.93T>C (p.Arg31=) c.157T>C (p.Ser53Pro) | gnomAD v4 |
| 10 | g.113697593T>G | CA378416735 | CASP7 | c.100T>G (p.Ser34Ala) c.324T>G (p.Arg108=) c.199T>G (p.Ser67Ala) c.111T>G (p.Arg37=) c.93T>G (p.Arg31=) c.157T>G (p.Ser53Ala) | |
| 10 | g.113697593T= | CA1937479397 | CASP7 | c.100T= (p.Ser34=) c.324T= (p.Arg108=) c.199T= (p.Ser67=) c.111T= (p.Arg37=) c.93T= (p.Arg31=) c.157T= (p.Ser53=) | |
| 10 | g.113697594C>A | CA5696213 | CASP7 | c.101C>A (p.Ser34Tyr) c.325C>A (p.Pro109Thr) c.200C>A (p.Ser67Tyr) c.112C>A (p.Pro38Thr) c.94C>A (p.Pro32Thr) c.158C>A (p.Ser53Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113697594C= | CA1937479398 | CASP7 | c.101C= (p.Ser34=) c.325C= (p.Pro109=) c.200C= (p.Ser67=) c.112C= (p.Pro38=) c.94C= (p.Pro32=) c.158C= (p.Ser53=) | |
| 10 | g.113697594C>G | CA378416740 | CASP7 | c.101C>G (p.Ser34Cys) c.325C>G (p.Pro109Ala) c.200C>G (p.Ser67Cys) c.112C>G (p.Pro38Ala) c.94C>G (p.Pro32Ala) c.158C>G (p.Ser53Cys) | |
| 10 | g.113697594C>T | CA378416738 | CASP7 | c.101C>T (p.Ser34Phe) c.325C>T (p.Pro109Ser) c.200C>T (p.Ser67Phe) c.112C>T (p.Pro38Ser) c.94C>T (p.Pro32Ser) c.158C>T (p.Ser53Phe) | |
| 10 | g.113697595C>A | CA378416746 | CASP7 | c.102C>A (p.Ser34=) c.326C>A (p.Pro109His) c.201C>A (p.Ser67=) c.113C>A (p.Pro38His) c.95C>A (p.Pro32His) c.159C>A (p.Ser53=) | |
| 10 | g.113697595C>G | CA378416747 | CASP7 | c.102C>G (p.Ser34=) c.326C>G (p.Pro109Arg) c.201C>G (p.Ser67=) c.113C>G (p.Pro38Arg) c.95C>G (p.Pro32Arg) c.159C>G (p.Ser53=) | gnomAD v4 |
| 10 | g.113697595C>T | CA378416749 | CASP7 | c.102C>T (p.Ser34=) c.326C>T (p.Pro109Leu) c.201C>T (p.Ser67=) c.113C>T (p.Pro38Leu) c.95C>T (p.Pro32Leu) c.159C>T (p.Ser53=) | |
| 10 | g.113697596C>A | CA5696214 | CASP7 | c.103C>A (p.Leu35Ile) c.327C>A (p.Pro109=) c.202C>A (p.Leu68Ile) c.114C>A (p.Pro38=) c.96C>A (p.Pro32=) c.160C>A (p.Leu54Ile) | dbSNP ExAC |
| 10 | g.113697596C= | CA1937479399 | CASP7 | c.103C= (p.Leu35=) c.327C= (p.Pro109=) c.202C= (p.Leu68=) c.114C= (p.Pro38=) c.96C= (p.Pro32=) c.160C= (p.Leu54=) | |
| 10 | g.113697596C>G | CA378416753 | CASP7 | c.103C>G (p.Leu35Val) c.327C>G (p.Pro109=) c.202C>G (p.Leu68Val) c.114C>G (p.Pro38=) c.96C>G (p.Pro32=) c.160C>G (p.Leu54Val) | ClinVar |
| 10 | g.113697596C>T | CA378416756 | CASP7 | c.103C>T (p.Leu35Phe) c.327C>T (p.Pro109=) c.202C>T (p.Leu68Phe) c.114C>T (p.Pro38=) c.96C>T (p.Pro32=) c.160C>T (p.Leu54Phe) | |
| 10 | g.113697597T>A | CA5696215 | CASP7 | c.104T>A (p.Leu35His) c.328T>A (p.Ser110Thr) c.203T>A (p.Leu68His) c.115T>A (p.Ser39Thr) c.97T>A (p.Ser33Thr) c.161T>A (p.Leu54His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113697597T>C | CA378416764 | CASP7 | c.104T>C (p.Leu35Pro) c.328T>C (p.Ser110Pro) c.203T>C (p.Leu68Pro) c.115T>C (p.Ser39Pro) c.97T>C (p.Ser33Pro) c.161T>C (p.Leu54Pro) | |
| 10 | g.113697597T>G | CA378416761 | CASP7 | c.104T>G (p.Leu35Arg) c.328T>G (p.Ser110Ala) c.203T>G (p.Leu68Arg) c.115T>G (p.Ser39Ala) c.97T>G (p.Ser33Ala) c.161T>G (p.Leu54Arg) | |
| 10 | g.113697597T= | CA1937479400 | CASP7 | c.104T= (p.Leu35=) c.328T= (p.Ser110=) c.203T= (p.Leu68=) c.115T= (p.Ser39=) c.97T= (p.Ser33=) c.161T= (p.Leu54=) | |
| 10 | g.113697598C>A | CA378416766 | CASP7 | c.105C>A (p.Leu35=) c.329C>A (p.Ser110Tyr) c.204C>A (p.Leu68=) c.116C>A (p.Ser39Tyr) c.98C>A (p.Ser33Tyr) c.162C>A (p.Leu54=) | gnomAD v4 |
| 10 | g.113697598C>G | CA378416768 | CASP7 | c.105C>G (p.Leu35=) c.329C>G (p.Ser110Cys) c.204C>G (p.Leu68=) c.116C>G (p.Ser39Cys) c.98C>G (p.Ser33Cys) c.162C>G (p.Leu54=) | |
| 10 | g.113697598C>T | CA378416770 | CASP7 | c.105C>T (p.Leu35=) c.329C>T (p.Ser110Phe) c.204C>T (p.Leu68=) c.116C>T (p.Ser39Phe) c.98C>T (p.Ser33Phe) c.162C>T (p.Leu54=) | |
| 10 | g.113697599T>A | CA378416773 | CASP7 | c.106T>A (p.Phe36Ile) c.330T>A (p.Ser110=) c.205T>A (p.Phe69Ile) c.117T>A (p.Ser39=) c.99T>A (p.Ser33=) c.163T>A (p.Phe55Ile) | |
| 10 | g.113697599T>C | CA378416774 | CASP7 | c.106T>C (p.Phe36Leu) c.330T>C (p.Ser110=) c.205T>C (p.Phe69Leu) c.117T>C (p.Ser39=) c.99T>C (p.Ser33=) c.163T>C (p.Phe55Leu) | |
| 10 | g.113697599T>G | CA378416776 | CASP7 | c.106T>G (p.Phe36Val) c.330T>G (p.Ser110=) c.205T>G (p.Phe69Val) c.117T>G (p.Ser39=) c.99T>G (p.Ser33=) c.163T>G (p.Phe55Val) | |
| 10 | g.113697600T>A | CA378416779 | CASP7 | c.107T>A (p.Phe36Tyr) c.331T>A (p.Ser111Thr) c.206T>A (p.Phe69Tyr) c.118T>A (p.Ser40Thr) c.100T>A (p.Ser34Thr) c.164T>A (p.Phe55Tyr) | |
| 10 | g.113697600T>C | CA378416783 | CASP7 | c.107T>C (p.Phe36Ser) c.331T>C (p.Ser111Pro) c.206T>C (p.Phe69Ser) c.118T>C (p.Ser40Pro) c.100T>C (p.Ser34Pro) c.164T>C (p.Phe55Ser) | |
| 10 | g.113697600T>G | CA378416781 | CASP7 | c.107T>G (p.Phe36Cys) c.331T>G (p.Ser111Ala) c.206T>G (p.Phe69Cys) c.118T>G (p.Ser40Ala) c.100T>G (p.Ser34Ala) c.164T>G (p.Phe55Cys) | |
| 10 | g.113697601C>A | CA378416785 | CASP7 | c.108C>A (p.Phe36Leu) c.332C>A (p.Ser111Ter) c.207C>A (p.Phe69Leu) c.119C>A (p.Ser40Ter) c.101C>A (p.Ser34Ter) c.165C>A (p.Phe55Leu) | gnomAD v4 |
| 10 | g.113697601C>G | CA378416786 | CASP7 | c.108C>G (p.Phe36Leu) c.332C>G (p.Ser111Ter) c.207C>G (p.Phe69Leu) c.119C>G (p.Ser40Ter) c.101C>G (p.Ser34Ter) c.165C>G (p.Phe55Leu) | |
| 10 | g.113697601C>T | CA378416788 | CASP7 | c.108C>T (p.Phe36=) c.332C>T (p.Ser111Leu) c.207C>T (p.Phe69=) c.119C>T (p.Ser40Leu) c.101C>T (p.Ser34Leu) c.165C>T (p.Phe55=) | gnomAD v4 |
| 10 | g.113697602A= | CA1937479401 | CASP7 | c.109A= (p.Ser37=) c.333A= (p.Ser111=) c.208A= (p.Ser70=) c.120A= (p.Ser40=) c.102A= (p.Ser34=) c.166A= (p.Ser56=) | |
| 10 | g.113697602A>C | CA378416791 | CASP7 | c.109A>C (p.Ser37Arg) c.333A>C (p.Ser111=) c.208A>C (p.Ser70Arg) c.120A>C (p.Ser40=) c.102A>C (p.Ser34=) c.166A>C (p.Ser56Arg) | |
| 10 | g.113697602A>G | CA5696216 | CASP7 | c.109A>G (p.Ser37Gly) c.333A>G (p.Ser111=) c.208A>G (p.Ser70Gly) c.120A>G (p.Ser40=) c.102A>G (p.Ser34=) c.166A>G (p.Ser56Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113697602A>T | CA378416794 | CASP7 | c.109A>T (p.Ser37Cys) c.333A>T (p.Ser111=) c.208A>T (p.Ser70Cys) c.120A>T (p.Ser40=) c.102A>T (p.Ser34=) c.166A>T (p.Ser56Cys) | |
| 10 | g.113697603G>A | CA378416796 | CASP7 | c.110G>A (p.Ser37Asn) c.334G>A (p.Ala112Thr) c.209G>A (p.Ser70Asn) c.121G>A (p.Ala41Thr) c.103G>A (p.Ala35Thr) c.167G>A (p.Ser56Asn) | dbSNP |
| 10 | g.113697603G>C | CA378416799 | CASP7 | c.110G>C (p.Ser37Thr) c.334G>C (p.Ala112Pro) c.209G>C (p.Ser70Thr) c.121G>C (p.Ala41Pro) c.103G>C (p.Ala35Pro) c.167G>C (p.Ser56Thr) | |
| 10 | g.113697603G= | CA1937479402 | CASP7 | c.110G= (p.Ser37=) c.334G= (p.Ala112=) c.209G= (p.Ser70=) c.121G= (p.Ala41=) c.103G= (p.Ala35=) c.167G= (p.Ser56=) | |
| 10 | g.113697603G>T | CA378416801 | CASP7 | c.110G>T (p.Ser37Ile) c.334G>T (p.Ala112Ser) c.209G>T (p.Ser70Ile) c.121G>T (p.Ala41Ser) c.103G>T (p.Ala35Ser) c.167G>T (p.Ser56Ile) | |
| 10 | g.113697604G>A | CA378416803 | CASP7 | c.110+1G>A (n.110+1G>A) c.334+1G>A (n.334+1G>A) c.209+1G>A (n.209+1G>A) c.121+1G>A (n.121+1G>A) c.103+1G>A (n.103+1G>A) c.167+1G>A (n.167+1G>A) | |
| 10 | g.113697604G>C | CA378416805 | CASP7 | c.110+1G>C (n.110+1G>C) c.334+1G>C (n.334+1G>C) c.209+1G>C (n.209+1G>C) c.121+1G>C (n.121+1G>C) c.103+1G>C (n.103+1G>C) c.167+1G>C (n.167+1G>C) | |
| 10 | g.113697604G>T | CA378416808 | CASP7 | c.110+1G>T (n.110+1G>T) c.334+1G>T (n.334+1G>T) c.209+1G>T (n.209+1G>T) c.121+1G>T (n.121+1G>T) c.103+1G>T (n.103+1G>T) c.167+1G>T (n.167+1G>T) | |
| 10 | g.113697605T>A | CA378416812 | CASP7 | c.110+2T>A (n.110+2T>A) c.334+2T>A (n.334+2T>A) c.209+2T>A (n.209+2T>A) c.121+2T>A (n.121+2T>A) c.103+2T>A (n.103+2T>A) c.167+2T>A (n.167+2T>A) | |
| 10 | g.113697605T>C | CA378416813 | CASP7 | c.110+2T>C (n.110+2T>C) c.334+2T>C (n.334+2T>C) c.209+2T>C (n.209+2T>C) c.121+2T>C (n.121+2T>C) c.103+2T>C (n.103+2T>C) c.167+2T>C (n.167+2T>C) | |
| 10 | g.113697605T>G | CA378416809 | CASP7 | c.110+2T>G (n.110+2T>G) c.334+2T>G (n.334+2T>G) c.209+2T>G (n.209+2T>G) c.121+2T>G (n.121+2T>G) c.103+2T>G (n.103+2T>G) c.167+2T>G (n.167+2T>G) | |
| 10 | g.113697608G>A | CA5696217 | CASP7 | c.110+5G>A (n.110+5G>A) c.334+5G>A (n.334+5G>A) c.209+5G>A (n.209+5G>A) c.121+5G>A (n.121+5G>A) c.103+5G>A (n.103+5G>A) c.167+5G>A (n.167+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113697608G>C | CA2610963497 | CASP7 | c.110+5G>C (n.110+5G>C) c.334+5G>C (n.334+5G>C) c.209+5G>C (n.209+5G>C) c.121+5G>C (n.121+5G>C) c.103+5G>C (n.103+5G>C) c.167+5G>C (n.167+5G>C) | gnomAD v4 |
| 10 | g.113697608G= | CA1937479403 | CASP7 | c.110+5G= (n.110+5G=) c.334+5G= (n.334+5G=) c.209+5G= (n.209+5G=) c.121+5G= (n.121+5G=) c.103+5G= (n.103+5G=) c.167+5G= (n.167+5G=) | |
| 10 | g.113697610T>G | CA2610963498 | CASP7 | c.110+7T>G (n.110+7T>G) c.334+7T>G (n.334+7T>G) c.209+7T>G (n.209+7T>G) c.121+7T>G (n.121+7T>G) c.103+7T>G (n.103+7T>G) c.167+7T>G (n.167+7T>G) | gnomAD v4 |
| 10 | g.113697611T>C | CA595773294 | CASP7 | c.110+8T>C (n.110+8T>C) c.334+8T>C (n.334+8T>C) c.209+8T>C (n.209+8T>C) c.121+8T>C (n.121+8T>C) c.103+8T>C (n.103+8T>C) c.167+8T>C (n.167+8T>C) | dbSNP gnomAD v2 |
| 10 | g.113697611T= | CA1937479404 | CASP7 | c.110+8T= (n.110+8T=) c.334+8T= (n.334+8T=) c.209+8T= (n.209+8T=) c.121+8T= (n.121+8T=) c.103+8T= (n.103+8T=) c.167+8T= (n.167+8T=) | |
| 10 | g.113697612G>A | CA2574673809 | CASP7 | c.110+9G>A (n.110+9G>A) c.334+9G>A (n.334+9G>A) c.209+9G>A (n.209+9G>A) c.121+9G>A (n.121+9G>A) c.103+9G>A (n.103+9G>A) c.167+9G>A (n.167+9G>A) | |
| 10 | g.113697612G>C | CA595773295 | CASP7 | c.110+9G>C (n.110+9G>C) c.334+9G>C (n.334+9G>C) c.209+9G>C (n.209+9G>C) c.121+9G>C (n.121+9G>C) c.103+9G>C (n.103+9G>C) c.167+9G>C (n.167+9G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113697612G= | CA1937479405 | CASP7 | c.110+9G= (n.110+9G=) c.334+9G= (n.334+9G=) c.209+9G= (n.209+9G=) c.121+9G= (n.121+9G=) c.103+9G= (n.103+9G=) c.167+9G= (n.167+9G=) | |
| 10 | g.113697613C>A | CA2610963499 | CASP7 | c.110+10C>A (n.110+10C>A) c.334+10C>A (n.334+10C>A) c.209+10C>A (n.209+10C>A) c.121+10C>A (n.121+10C>A) c.103+10C>A (n.103+10C>A) c.167+10C>A (n.167+10C>A) | gnomAD v4 |
| 10 | g.113697613C>T | CA2610963500 | CASP7 | c.110+10C>T (n.110+10C>T) c.334+10C>T (n.334+10C>T) c.209+10C>T (n.209+10C>T) c.121+10C>T (n.121+10C>T) c.103+10C>T (n.103+10C>T) c.167+10C>T (n.167+10C>T) | gnomAD v4 |
| 10 | g.113697615T>A | CA2574673810 | CASP7 | c.110+12T>A (n.110+12T>A) c.334+12T>A (n.334+12T>A) c.209+12T>A (n.209+12T>A) c.121+12T>A (n.121+12T>A) c.103+12T>A (n.103+12T>A) c.167+12T>A (n.167+12T>A) | gnomAD v4 |
| 10 | g.113697616A= | CA1937479406 | CASP7 | c.110+13A= (n.110+13A=) c.334+13A= (n.334+13A=) c.209+13A= (n.209+13A=) c.121+13A= (n.121+13A=) c.103+13A= (n.103+13A=) c.167+13A= (n.167+13A=) | |
| 10 | g.113697616A>G | CA932721361 | CASP7 | c.110+13A>G (n.110+13A>G) c.334+13A>G (n.334+13A>G) c.209+13A>G (n.209+13A>G) c.121+13A>G (n.121+13A>G) c.103+13A>G (n.103+13A>G) c.167+13A>G (n.167+13A>G) | dbSNP |
| 10 | g.113697616A>T | CA2610963501 | CASP7 | c.110+13A>T (n.110+13A>T) c.334+13A>T (n.334+13A>T) c.209+13A>T (n.209+13A>T) c.121+13A>T (n.121+13A>T) c.103+13A>T (n.103+13A>T) c.167+13A>T (n.167+13A>T) | gnomAD v4 |
| 10 | g.113697617A= | CA1937479407 | CASP7 | c.110+14A= (n.110+14A=) c.334+14A= (n.334+14A=) c.209+14A= (n.209+14A=) c.121+14A= (n.121+14A=) c.103+14A= (n.103+14A=) c.167+14A= (n.167+14A=) | |
| 10 | g.113697617A>G | CA214446958 | CASP7 | c.110+14A>G (n.110+14A>G) c.334+14A>G (n.334+14A>G) c.209+14A>G (n.209+14A>G) c.121+14A>G (n.121+14A>G) c.103+14A>G (n.103+14A>G) c.167+14A>G (n.167+14A>G) | dbSNP gnomAD v4 |
| 10 | g.113697619C>A | CA2574673811 | CASP7 | c.110+16C>A (n.110+16C>A) c.334+16C>A (n.334+16C>A) c.209+16C>A (n.209+16C>A) c.121+16C>A (n.121+16C>A) c.103+16C>A (n.103+16C>A) c.167+16C>A (n.167+16C>A) | gnomAD v4 |
| 10 | g.113697619C>G | CA2610963502 | CASP7 | c.110+16C>G (n.110+16C>G) c.334+16C>G (n.334+16C>G) c.209+16C>G (n.209+16C>G) c.121+16C>G (n.121+16C>G) c.103+16C>G (n.103+16C>G) c.167+16C>G (n.167+16C>G) | gnomAD v4 |
| 10 | g.113697620A= | CA1937479408 | CASP7 | c.110+17A= (n.110+17A=) c.334+17A= (n.334+17A=) c.209+17A= (n.209+17A=) c.121+17A= (n.121+17A=) c.103+17A= (n.103+17A=) c.167+17A= (n.167+17A=) | |
| 10 | g.113697620A>G | CA660108392 | CASP7 | c.110+17A>G (n.110+17A>G) c.334+17A>G (n.334+17A>G) c.209+17A>G (n.209+17A>G) c.121+17A>G (n.121+17A>G) c.103+17A>G (n.103+17A>G) c.167+17A>G (n.167+17A>G) | dbSNP gnomAD v4 |
| 10 | g.113697621G>A | CA5696218 | CASP7 | c.110+18G>A (n.110+18G>A) c.334+18G>A (n.334+18G>A) c.209+18G>A (n.209+18G>A) c.121+18G>A (n.121+18G>A) c.103+18G>A (n.103+18G>A) c.167+18G>A (n.167+18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113697621G= | CA1937479409 | CASP7 | c.110+18G= (n.110+18G=) c.334+18G= (n.334+18G=) c.209+18G= (n.209+18G=) c.121+18G= (n.121+18G=) c.103+18G= (n.103+18G=) c.167+18G= (n.167+18G=) | |
| 10 | g.113697622G>A | CA2610963503 | CASP7 | c.110+19G>A (n.110+19G>A) c.334+19G>A (n.334+19G>A) c.209+19G>A (n.209+19G>A) c.121+19G>A (n.121+19G>A) c.103+19G>A (n.103+19G>A) c.167+19G>A (n.167+19G>A) | gnomAD v4 |
| 10 | g.113697623G>A | CA2610963504 | CASP7 | c.110+20G>A (n.110+20G>A) c.334+20G>A (n.334+20G>A) c.209+20G>A (n.209+20G>A) c.121+20G>A (n.121+20G>A) c.103+20G>A (n.103+20G>A) c.167+20G>A (n.167+20G>A) | gnomAD v4 |
| 10 | g.113697624A= | CA1937479410 | CASP7 | c.110+21A= (n.110+21A=) c.334+21A= (n.334+21A=) c.209+21A= (n.209+21A=) c.121+21A= (n.121+21A=) c.103+21A= (n.103+21A=) c.167+21A= (n.167+21A=) | |
| 10 | g.113697624A>C | CA5696219 | CASP7 | c.110+21A>C (n.110+21A>C) c.334+21A>C (n.334+21A>C) c.209+21A>C (n.209+21A>C) c.121+21A>C (n.121+21A>C) c.103+21A>C (n.103+21A>C) c.167+21A>C (n.167+21A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113697624A>G | CA2789556642 | CASP7 | c.110+21A>G (n.110+21A>G) c.334+21A>G (n.334+21A>G) c.209+21A>G (n.209+21A>G) c.121+21A>G (n.121+21A>G) c.103+21A>G (n.103+21A>G) c.167+21A>G (n.167+21A>G) | |
| 10 | g.113697625C>A | CA2574673812 | CASP7 | c.110+22C>A (n.110+22C>A) c.334+22C>A (n.334+22C>A) c.209+22C>A (n.209+22C>A) c.121+22C>A (n.121+22C>A) c.103+22C>A (n.103+22C>A) c.167+22C>A (n.167+22C>A) | gnomAD v4 |
| 10 | g.113697625C>G | CA2610963505 | CASP7 | c.110+22C>G (n.110+22C>G) c.334+22C>G (n.334+22C>G) c.209+22C>G (n.209+22C>G) c.121+22C>G (n.121+22C>G) c.103+22C>G (n.103+22C>G) c.167+22C>G (n.167+22C>G) | gnomAD v4 |
| 10 | g.113697625C>T | CA2610963506 | CASP7 | c.110+22C>T (n.110+22C>T) c.334+22C>T (n.334+22C>T) c.209+22C>T (n.209+22C>T) c.121+22C>T (n.121+22C>T) c.103+22C>T (n.103+22C>T) c.167+22C>T (n.167+22C>T) | gnomAD v4 |
| 10 | g.113697626C>A | CA2610963507 | CASP7 | c.110+23C>A (n.110+23C>A) c.334+23C>A (n.334+23C>A) c.209+23C>A (n.209+23C>A) c.121+23C>A (n.121+23C>A) c.103+23C>A (n.103+23C>A) c.167+23C>A (n.167+23C>A) | gnomAD v4 |
| 10 | g.113697626C>T | CA2610963508 | CASP7 | c.110+23C>T (n.110+23C>T) c.334+23C>T (n.334+23C>T) c.209+23C>T (n.209+23C>T) c.121+23C>T (n.121+23C>T) c.103+23C>T (n.103+23C>T) c.167+23C>T (n.167+23C>T) | gnomAD v4 |
| 10 | g.113697627C>A | CA2574673813 | CASP7 | c.110+24C>A (n.110+24C>A) c.334+24C>A (n.334+24C>A) c.209+24C>A (n.209+24C>A) c.121+24C>A (n.121+24C>A) c.103+24C>A (n.103+24C>A) c.167+24C>A (n.167+24C>A) | gnomAD v4 |
| 10 | g.113697628T>C | CA5696220 | CASP7 | c.110+25T>C (n.110+25T>C) c.334+25T>C (n.334+25T>C) c.209+25T>C (n.209+25T>C) c.121+25T>C (n.121+25T>C) c.103+25T>C (n.103+25T>C) c.167+25T>C (n.167+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113697628T= | CA1937479411 | CASP7 | c.110+25T= (n.110+25T=) c.334+25T= (n.334+25T=) c.209+25T= (n.209+25T=) c.121+25T= (n.121+25T=) c.103+25T= (n.103+25T=) c.167+25T= (n.167+25T=) | |
| 10 | g.113697630G>T | CA2610963509 | CASP7 | c.110+27G>T (n.110+27G>T) c.334+27G>T (n.334+27G>T) c.209+27G>T (n.209+27G>T) c.121+27G>T (n.121+27G>T) c.103+27G>T (n.103+27G>T) c.167+27G>T (n.167+27G>T) | gnomAD v4 |
| 10 | g.113697631del | CA2610963510 | CASP7 | c.110+28del (n.110+28del) c.334+28del (n.334+28del) c.209+28del (n.209+28del) c.121+28del (n.121+28del) c.103+28del (n.103+28del) c.167+28del (n.167+28del) | gnomAD v4 |
| 10 | g.113697631A= | CA1937479412 | CASP7 | c.110+28A= (n.110+28A=) c.334+28A= (n.334+28A=) c.209+28A= (n.209+28A=) c.121+28A= (n.121+28A=) c.103+28A= (n.103+28A=) c.167+28A= (n.167+28A=) | |
| 10 | g.113697631A>C | CA595773296 | CASP7 | c.110+28A>C (n.110+28A>C) c.334+28A>C (n.334+28A>C) c.209+28A>C (n.209+28A>C) c.121+28A>C (n.121+28A>C) c.103+28A>C (n.103+28A>C) c.167+28A>C (n.167+28A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113697632C>A | CA2610963512 | CASP7 | c.110+29C>A (n.110+29C>A) c.334+29C>A (n.334+29C>A) c.209+29C>A (n.209+29C>A) c.121+29C>A (n.121+29C>A) c.103+29C>A (n.103+29C>A) c.167+29C>A (n.167+29C>A) | gnomAD v4 |
| 10 | g.113697633del | CA2610963511 | CASP7 | c.110+30del (n.110+30del) c.334+30del (n.334+30del) c.209+30del (n.209+30del) c.121+30del (n.121+30del) c.103+30del (n.103+30del) c.167+30del (n.167+30del) | gnomAD v4 |
| 10 | g.113697633C>A | CA2574673814 | CASP7 | c.110+30C>A (n.110+30C>A) c.334+30C>A (n.334+30C>A) c.209+30C>A (n.209+30C>A) c.121+30C>A (n.121+30C>A) c.103+30C>A (n.103+30C>A) c.167+30C>A (n.167+30C>A) | gnomAD v4 |
| 10 | g.113697633C= | CA1937479413 | CASP7 | c.110+30C= (n.110+30C=) c.334+30C= (n.334+30C=) c.209+30C= (n.209+30C=) c.121+30C= (n.121+30C=) c.103+30C= (n.103+30C=) c.167+30C= (n.167+30C=) | |
| 10 | g.113697633C>T | CA5696221 | CASP7 | c.110+30C>T (n.110+30C>T) c.334+30C>T (n.334+30C>T) c.209+30C>T (n.209+30C>T) c.121+30C>T (n.121+30C>T) c.103+30C>T (n.103+30C>T) c.167+30C>T (n.167+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |