| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127421320G>A | CA428617356 | PROC | c.108G>A (p.Val36=) c.73G>A (p.Ala25Thr) n.191G>A c.291G>A (p.Val97=) c.171G>A (p.Val57=) c.351G>A (p.Val117=) c.192G>A (p.Val64=) c.84G>A (p.Val28=) c.102G>A (p.Val34=) | gnomAD v4 |
| 2 | g.127421320G>C | CA428617357 | PROC | c.108G>C (p.Val36=) c.73G>C (p.Ala25Pro) n.191G>C c.291G>C (p.Val97=) c.171G>C (p.Val57=) c.351G>C (p.Val117=) c.192G>C (p.Val64=) c.84G>C (p.Val28=) c.102G>C (p.Val34=) | |
| 2 | g.127421320G>T | CA428617358 | PROC | c.108G>T (p.Val36=) c.73G>T (p.Ala25Ser) n.191G>T c.291G>T (p.Val97=) c.171G>T (p.Val57=) c.351G>T (p.Val117=) c.192G>T (p.Val64=) c.84G>T (p.Val28=) c.102G>T (p.Val34=) | |
| 2 | g.127421321C>A | CA348397721 | PROC | c.109C>A (p.Leu37Met) c.74C>A (p.Ala25Asp) n.192C>A c.292C>A (p.Leu98Met) c.172C>A (p.Leu58Met) c.352C>A (p.Leu118Met) c.193C>A (p.Leu65Met) c.85C>A (p.Leu29Met) c.103C>A (p.Leu35Met) | |
| 2 | g.127421321C= | CA1286881611 | PROC | c.109C= (p.Leu37=) c.74C= (p.Ala25=) n.192C= c.292C= (p.Leu98=) c.172C= (p.Leu58=) c.352C= (p.Leu118=) c.193C= (p.Leu65=) c.85C= (p.Leu29=) c.103C= (p.Leu35=) | |
| 2 | g.127421321C>G | CA1859239 | PROC | c.109C>G (p.Leu37Val) c.74C>G (p.Ala25Gly) n.192C>G c.292C>G (p.Leu98Val) c.172C>G (p.Leu58Val) c.352C>G (p.Leu118Val) c.193C>G (p.Leu65Val) c.85C>G (p.Leu29Val) c.103C>G (p.Leu35Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127421321C>T | CA428617361 | PROC | c.109C>T (p.Leu37=) c.74C>T (p.Ala25Val) n.192C>T c.292C>T (p.Leu98=) c.172C>T (p.Leu58=) c.352C>T (p.Leu118=) c.193C>T (p.Leu65=) c.85C>T (p.Leu29=) c.103C>T (p.Leu35=) | |
| 2 | g.127421322T>A | CA348397722 | PROC | c.110T>A (p.Leu37Gln) c.75T>A (p.Ala25=) n.193T>A c.293T>A (p.Leu98Gln) c.173T>A (p.Leu58Gln) c.353T>A (p.Leu118Gln) c.194T>A (p.Leu65Gln) c.86T>A (p.Leu29Gln) c.104T>A (p.Leu35Gln) | |
| 2 | g.127421322T>C | CA1859240 | PROC | c.110T>C (p.Leu37Pro) c.75T>C (p.Ala25=) n.193T>C c.293T>C (p.Leu98Pro) c.173T>C (p.Leu58Pro) c.353T>C (p.Leu118Pro) c.194T>C (p.Leu65Pro) c.86T>C (p.Leu29Pro) c.104T>C (p.Leu35Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127421322T>G | CA348397723 | PROC | c.110T>G (p.Leu37Arg) c.75T>G (p.Ala25=) n.193T>G c.293T>G (p.Leu98Arg) c.173T>G (p.Leu58Arg) c.353T>G (p.Leu118Arg) c.194T>G (p.Leu65Arg) c.86T>G (p.Leu29Arg) c.104T>G (p.Leu35Arg) | |
| 2 | g.127421322T= | CA1286881613 | PROC | c.110T= (p.Leu37=) c.75T= (p.Ala25=) n.193T= c.293T= (p.Leu98=) c.173T= (p.Leu58=) c.353T= (p.Leu118=) c.194T= (p.Leu65=) c.86T= (p.Leu29=) c.104T= (p.Leu35=) | |
| 2 | g.127421323G>A | CA428617362 | PROC | c.111G>A (p.Leu37=) c.76G>A (p.Ala26Thr) n.194G>A c.294G>A (p.Leu98=) c.174G>A (p.Leu58=) c.354G>A (p.Leu118=) c.195G>A (p.Leu65=) c.87G>A (p.Leu29=) c.105G>A (p.Leu35=) | gnomAD v4 |
| 2 | g.127421323G>C | CA428617363 | PROC | c.111G>C (p.Leu37=) c.76G>C (p.Ala26Pro) n.194G>C c.294G>C (p.Leu98=) c.174G>C (p.Leu58=) c.354G>C (p.Leu118=) c.195G>C (p.Leu65=) c.87G>C (p.Leu29=) c.105G>C (p.Leu35=) | |
| 2 | g.127421323G>T | CA428617364 | PROC | c.111G>T (p.Leu37=) c.76G>T (p.Ala26Ser) n.194G>T c.294G>T (p.Leu98=) c.174G>T (p.Leu58=) c.354G>T (p.Leu118=) c.195G>T (p.Leu65=) c.87G>T (p.Leu29=) c.105G>T (p.Leu35=) | |
| 2 | g.127421324C>A | CA428617365 | PROC | c.112C>A (p.Arg38=) c.77C>A (p.Ala26Glu) n.195C>A c.295C>A (p.Arg99=) c.175C>A (p.Arg59=) c.355C>A (p.Arg119=) c.196C>A (p.Arg66=) c.88C>A (p.Arg30=) c.106C>A (p.Arg36=) | |
| 2 | g.127421324C= | CA1286881621 | PROC | c.112C= (p.Arg38=) c.77C= (p.Ala26=) n.195C= c.295C= (p.Arg99=) c.175C= (p.Arg59=) c.355C= (p.Arg119=) c.196C= (p.Arg66=) c.88C= (p.Arg30=) c.106C= (p.Arg36=) | |
| 2 | g.127421324C>G | CA348397724 | PROC | c.112C>G (p.Arg38Gly) c.77C>G (p.Ala26Gly) n.195C>G c.295C>G (p.Arg99Gly) c.175C>G (p.Arg59Gly) c.355C>G (p.Arg119Gly) c.196C>G (p.Arg66Gly) c.88C>G (p.Arg30Gly) c.106C>G (p.Arg36Gly) | |
| 2 | g.127421324C>T | CA1859241 | PROC | c.112C>T (p.Arg38Trp) c.77C>T (p.Ala26Val) n.195C>T c.295C>T (p.Arg99Trp) c.175C>T (p.Arg59Trp) c.355C>T (p.Arg119Trp) c.196C>T (p.Arg66Trp) c.88C>T (p.Arg30Trp) c.106C>T (p.Arg36Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421325G>A | CA1859242 | PROC | c.113G>A (p.Arg38Gln) c.78G>A (p.Ala26=) n.196G>A c.296G>A (p.Arg99Gln) c.176G>A (p.Arg59Gln) c.356G>A (p.Arg119Gln) c.197G>A (p.Arg66Gln) c.89G>A (p.Arg30Gln) c.107G>A (p.Arg36Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.127421325G>C | CA348397725 | PROC | c.113G>C (p.Arg38Pro) c.78G>C (p.Ala26=) n.196G>C c.296G>C (p.Arg99Pro) c.176G>C (p.Arg59Pro) c.356G>C (p.Arg119Pro) c.197G>C (p.Arg66Pro) c.89G>C (p.Arg30Pro) c.107G>C (p.Arg36Pro) | dbSNP |
| 2 | g.127421325G= | CA1286881625 | PROC | c.113G= (p.Arg38=) c.78G= (p.Ala26=) n.196G= c.296G= (p.Arg99=) c.176G= (p.Arg59=) c.356G= (p.Arg119=) c.197G= (p.Arg66=) c.89G= (p.Arg30=) c.107G= (p.Arg36=) | |
| 2 | g.127421325G>T | CA348397726 | PROC | c.113G>T (p.Arg38Leu) c.78G>T (p.Ala26=) n.196G>T c.296G>T (p.Arg99Leu) c.176G>T (p.Arg59Leu) c.356G>T (p.Arg119Leu) c.197G>T (p.Arg66Leu) c.89G>T (p.Arg30Leu) c.107G>T (p.Arg36Leu) | |
| 2 | g.127421326G>A | CA428617366 | PROC | c.114G>A (p.Arg38=) c.79G>A (p.Asp27Asn) n.197G>A c.297G>A (p.Arg99=) c.177G>A (p.Arg59=) c.357G>A (p.Arg119=) c.198G>A (p.Arg66=) c.90G>A (p.Arg30=) c.108G>A (p.Arg36=) | |
| 2 | g.127421326G>C | CA428617367 | PROC | c.114G>C (p.Arg38=) c.79G>C (p.Asp27His) n.197G>C c.297G>C (p.Arg99=) c.177G>C (p.Arg59=) c.357G>C (p.Arg119=) c.198G>C (p.Arg66=) c.90G>C (p.Arg30=) c.108G>C (p.Arg36=) | |
| 2 | g.127421326G>T | CA428617368 | PROC | c.114G>T (p.Arg38=) c.79G>T (p.Asp27Tyr) n.197G>T c.297G>T (p.Arg99=) c.177G>T (p.Arg59=) c.357G>T (p.Arg119=) c.198G>T (p.Arg66=) c.90G>T (p.Arg30=) c.108G>T (p.Arg36=) | |
| 2 | g.127421326_127421328del | CA2519644138 | PROC | c.114_116del (p.Ile39del) c.79_81del (p.Asp27del) n.197_199del c.297_299del (p.Ile100del) c.177_179del (p.Ile60del) c.357_359del (p.Ile120del) c.198_200del (p.Ile67del) c.90_92del (p.Ile31del) c.108_110del (p.Ile37del) | |
| 2 | g.127421327A>C | CA348397727 | PROC | c.115A>C (p.Ile39Leu) c.80A>C (p.Asp27Ala) n.198A>C c.298A>C (p.Ile100Leu) c.178A>C (p.Ile60Leu) c.358A>C (p.Ile120Leu) c.199A>C (p.Ile67Leu) c.91A>C (p.Ile31Leu) c.109A>C (p.Ile37Leu) | |
| 2 | g.127421327A>G | CA348397728 | PROC | c.115A>G (p.Ile39Val) c.80A>G (p.Asp27Gly) n.198A>G c.298A>G (p.Ile100Val) c.178A>G (p.Ile60Val) c.358A>G (p.Ile120Val) c.199A>G (p.Ile67Val) c.91A>G (p.Ile31Val) c.109A>G (p.Ile37Val) | |
| 2 | g.127421327A>T | CA348397729 | PROC | c.115A>T (p.Ile39Phe) c.80A>T (p.Asp27Val) n.198A>T c.298A>T (p.Ile100Phe) c.178A>T (p.Ile60Phe) c.358A>T (p.Ile120Phe) c.199A>T (p.Ile67Phe) c.91A>T (p.Ile31Phe) c.109A>T (p.Ile37Phe) | |
| 2 | g.127421328T>A | CA348397732 | PROC | c.116T>A (p.Ile39Asn) c.81T>A (p.Asp27Glu) n.199T>A c.299T>A (p.Ile100Asn) c.179T>A (p.Ile60Asn) c.359T>A (p.Ile120Asn) c.200T>A (p.Ile67Asn) c.92T>A (p.Ile31Asn) c.110T>A (p.Ile37Asn) | |
| 2 | g.127421328T>C | CA348397731 | PROC | c.116T>C (p.Ile39Thr) c.81T>C (p.Asp27=) n.199T>C c.299T>C (p.Ile100Thr) c.179T>C (p.Ile60Thr) c.359T>C (p.Ile120Thr) c.200T>C (p.Ile67Thr) c.92T>C (p.Ile31Thr) c.110T>C (p.Ile37Thr) | |
| 2 | g.127421328T>G | CA348397730 | PROC | c.116T>G (p.Ile39Ser) c.81T>G (p.Asp27Glu) n.199T>G c.299T>G (p.Ile100Ser) c.179T>G (p.Ile60Ser) c.359T>G (p.Ile120Ser) c.200T>G (p.Ile67Ser) c.92T>G (p.Ile31Ser) c.110T>G (p.Ile37Ser) | |
| 2 | g.127421329C>A | CA428617369 | PROC | c.117C>A (p.Ile39=) c.82C>A (p.Pro28Thr) n.200C>A c.300C>A (p.Ile100=) c.180C>A (p.Ile60=) c.360C>A (p.Ile120=) c.201C>A (p.Ile67=) c.93C>A (p.Ile31=) c.111C>A (p.Ile37=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421329C= | CA1286881633 | PROC | c.117C= (p.Ile39=) c.82C= (p.Pro28=) n.200C= c.300C= (p.Ile100=) c.180C= (p.Ile60=) c.360C= (p.Ile120=) c.201C= (p.Ile67=) c.93C= (p.Ile31=) c.111C= (p.Ile37=) | |
| 2 | g.127421329C>G | CA348397733 | PROC | c.117C>G (p.Ile39Met) c.82C>G (p.Pro28Ala) n.200C>G c.300C>G (p.Ile100Met) c.180C>G (p.Ile60Met) c.360C>G (p.Ile120Met) c.201C>G (p.Ile67Met) c.93C>G (p.Ile31Met) c.111C>G (p.Ile37Met) | |
| 2 | g.127421329C>T | CA428617371 | PROC | c.117C>T (p.Ile39=) c.82C>T (p.Pro28Ser) n.200C>T c.300C>T (p.Ile100=) c.180C>T (p.Ile60=) c.360C>T (p.Ile120=) c.201C>T (p.Ile67=) c.93C>T (p.Ile31=) c.111C>T (p.Ile37=) | |
| 2 | g.127421330_127421336del | CA2586969841 | PROC | c.118_124del (p.Arg40ValfsTer19) c.83_89del (p.Pro28ArgfsTer?) n.201_207del c.301_307del (p.Arg101ValfsTer19) c.181_187del (p.Arg61ValfsTer19) c.361_367del (p.Arg121ValfsTer19) c.202_208del (p.Arg68ValfsTer19) c.94_100del (p.Arg32ValfsTer19) c.112_118del (p.Arg38ValfsTer19) | |
| 2 | g.127421330C>A | CA348397734 | PROC | c.118C>A (p.Arg40Ser) c.83C>A (p.Pro28Gln) n.201C>A c.301C>A (p.Arg101Ser) c.181C>A (p.Arg61Ser) c.361C>A (p.Arg121Ser) c.202C>A (p.Arg68Ser) c.94C>A (p.Arg32Ser) c.112C>A (p.Arg38Ser) | |
| 2 | g.127421330C= | CA1286881635 | PROC | c.118C= (p.Arg40=) c.83C= (p.Pro28=) n.201C= c.301C= (p.Arg101=) c.181C= (p.Arg61=) c.361C= (p.Arg121=) c.202C= (p.Arg68=) c.94C= (p.Arg32=) c.112C= (p.Arg38=) | |
| 2 | g.127421330C>G | CA348397735 | PROC | c.118C>G (p.Arg40Gly) c.83C>G (p.Pro28Arg) n.201C>G c.301C>G (p.Arg101Gly) c.181C>G (p.Arg61Gly) c.361C>G (p.Arg121Gly) c.202C>G (p.Arg68Gly) c.94C>G (p.Arg32Gly) c.112C>G (p.Arg38Gly) | |
| 2 | g.127421330C>T | CA1859243 | PROC | c.118C>T (p.Arg40Cys) c.83C>T (p.Pro28Leu) n.201C>T c.301C>T (p.Arg101Cys) c.181C>T (p.Arg61Cys) c.361C>T (p.Arg121Cys) c.202C>T (p.Arg68Cys) c.94C>T (p.Arg32Cys) c.112C>T (p.Arg38Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.127421331G>A | CA1859244 | PROC | c.119G>A (p.Arg40His) c.84G>A (p.Pro28=) n.202G>A c.302G>A (p.Arg101His) c.182G>A (p.Arg61His) c.362G>A (p.Arg121His) c.203G>A (p.Arg68His) c.95G>A (p.Arg32His) c.113G>A (p.Arg38His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127421331G>C | CA348397736 | PROC | c.119G>C (p.Arg40Pro) c.84G>C (p.Pro28=) n.202G>C c.302G>C (p.Arg101Pro) c.182G>C (p.Arg61Pro) c.362G>C (p.Arg121Pro) c.203G>C (p.Arg68Pro) c.95G>C (p.Arg32Pro) c.113G>C (p.Arg38Pro) | |
| 2 | g.127421331G= | CA1286881641 | PROC | c.119G= (p.Arg40=) c.84G= (p.Pro28=) n.202G= c.302G= (p.Arg101=) c.182G= (p.Arg61=) c.362G= (p.Arg121=) c.203G= (p.Arg68=) c.95G= (p.Arg32=) c.113G= (p.Arg38=) | |
| 2 | g.127421331G>T | CA348397737 | PROC | c.119G>T (p.Arg40Leu) c.84G>T (p.Pro28=) n.202G>T c.302G>T (p.Arg101Leu) c.182G>T (p.Arg61Leu) c.362G>T (p.Arg121Leu) c.203G>T (p.Arg68Leu) c.95G>T (p.Arg32Leu) c.113G>T (p.Arg38Leu) | gnomAD v4 |
| 2 | g.127421332C>A | CA428617377 | PROC | c.120C>A (p.Arg40=) c.85C>A (p.Gln29Lys) n.203C>A c.303C>A (p.Arg101=) c.183C>A (p.Arg61=) c.363C>A (p.Arg121=) c.204C>A (p.Arg68=) c.96C>A (p.Arg32=) c.114C>A (p.Arg38=) | |
| 2 | g.127421332C>G | CA428617376 | PROC | c.120C>G (p.Arg40=) c.85C>G (p.Gln29Glu) n.203C>G c.303C>G (p.Arg101=) c.183C>G (p.Arg61=) c.363C>G (p.Arg121=) c.204C>G (p.Arg68=) c.96C>G (p.Arg32=) c.114C>G (p.Arg38=) | |
| 2 | g.127421332C>T | CA428617374 | PROC | c.120C>T (p.Arg40=) c.85C>T (p.Gln29Ter) n.203C>T c.303C>T (p.Arg101=) c.183C>T (p.Arg61=) c.363C>T (p.Arg121=) c.204C>T (p.Arg68=) c.96C>T (p.Arg32=) c.114C>T (p.Arg38=) | |
| 2 | g.127421333A>C | CA348397740 | PROC | c.121A>C (p.Lys41Gln) c.86A>C (p.Gln29Pro) n.204A>C c.304A>C (p.Lys102Gln) c.184A>C (p.Lys62Gln) c.364A>C (p.Lys122Gln) c.205A>C (p.Lys69Gln) c.97A>C (p.Lys33Gln) c.115A>C (p.Lys39Gln) | |
| 2 | g.127421333A>G | CA348397738 | PROC | c.121A>G (p.Lys41Glu) c.86A>G (p.Gln29Arg) n.204A>G c.304A>G (p.Lys102Glu) c.184A>G (p.Lys62Glu) c.364A>G (p.Lys122Glu) c.205A>G (p.Lys69Glu) c.97A>G (p.Lys33Glu) c.115A>G (p.Lys39Glu) |