| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.155022371_155022456del | CA2695238515 | F8 | c.99_143+41del c.99_121+63del c.38+4326_38+4411del (n.38+4326_38+4411del) c.81_125+41del | |
| X | g.155022410_155022723del | CA1139532180 | F8 | c.-170_143+1del c.38+4058_38+4371del (n.38+4058_38+4371del) c.39-226_125+1del | |
| X | g.155022433del | CA2695238519 | F8 | c.120del (p.Gly41ValfsTer?) c.120del (p.Asp41IlefsTer4) c.38+4347del (n.38+4347del) c.102del (p.Gly35ValfsTer?) | |
| X | g.155022433G>A | CA519388395 | F8 | c.120C>T (p.Leu40=) c.38+4347C>T (n.38+4347C>T) c.102C>T (p.Leu34=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.155022433G>C | CA519388400 | F8 | c.120C>G (p.Leu40=) c.38+4347C>G (n.38+4347C>G) c.102C>G (p.Leu34=) | |
| X | g.155022433G= | CA2466865413 | F8 | c.120C= (p.Leu40=) c.38+4347C= (n.38+4347C=) c.102C= (p.Leu34=) | |
| X | g.155022433G>T | CA519388397 | F8 | c.120C>A (p.Leu40=) c.38+4347C>A (n.38+4347C>A) c.102C>A (p.Leu34=) | gnomAD v4 |
| X | g.155022433dup | CA2695238522 | F8 | c.120dup (p.Gly41ArgfsTer2) c.120dup (p.Asp41ArgfsTer?) c.38+4347dup (n.38+4347dup) c.102dup (p.Gly35ArgfsTer2) | |
| X | g.155022433_155022442del | CA2695238520 | F8 | c.111_120del (p.Ser38ValfsTer?) c.111_120del (p.Ser38IlefsTer4) c.38+4338_38+4347del (n.38+4338_38+4347del) c.93_102del (p.Ser32ValfsTer?) | |
| X | g.155022434A>C | CA414920475 | F8 | c.119T>G (p.Leu40Arg) c.38+4346T>G (n.38+4346T>G) c.101T>G (p.Leu34Arg) | |
| X | g.155022434A>G | CA414920477 | F8 | c.119T>C (p.Leu40Pro) c.38+4346T>C (n.38+4346T>C) c.101T>C (p.Leu34Pro) | |
| X | g.155022434A>T | CA414920476 | F8 | c.119T>A (p.Leu40His) c.38+4346T>A (n.38+4346T>A) c.101T>A (p.Leu34His) | |
| X | g.155022435del | CA2695238523 | F8 | c.118del (p.Leu40SerfsTer?) c.118del (p.Leu40SerfsTer5) c.38+4345del (n.38+4345del) c.100del (p.Leu34SerfsTer?) | |
| X | g.155022435G>A | CA414920478 | F8 | c.118C>T (p.Leu40Phe) c.38+4345C>T (n.38+4345C>T) c.100C>T (p.Leu34Phe) | |
| X | g.155022435G>C | CA414920479 | F8 | c.118C>G (p.Leu40Val) c.38+4345C>G (n.38+4345C>G) c.100C>G (p.Leu34Val) | |
| X | g.155022435G>T | CA414920480 | F8 | c.118C>A (p.Leu40Ile) c.38+4345C>A (n.38+4345C>A) c.100C>A (p.Leu34Ile) | |
| X | g.155022436A>C | CA414920481 | F8 | c.117T>G (p.Asp39Glu) c.38+4344T>G (n.38+4344T>G) c.99T>G (p.Asp33Glu) | |
| X | g.155022436A>G | CA519388433 | F8 | c.117T>C (p.Asp39=) c.38+4344T>C (n.38+4344T>C) c.99T>C (p.Asp33=) | |
| X | g.155022436A>T | CA414920482 | F8 | c.117T>A (p.Asp39Glu) c.38+4344T>A (n.38+4344T>A) c.99T>A (p.Asp33Glu) | |
| X | g.155022437T>A | CA414920483 | F8 | c.116A>T (p.Asp39Val) c.38+4343A>T (n.38+4343A>T) c.98A>T (p.Asp33Val) | |
| X | g.155022437T>C | CA414920484 | F8 | c.116A>G (p.Asp39Gly) c.38+4343A>G (n.38+4343A>G) c.98A>G (p.Asp33Gly) | |
| X | g.155022437T>G | CA414920485 | F8 | c.116A>C (p.Asp39Ala) c.38+4343A>C (n.38+4343A>C) c.98A>C (p.Asp33Ala) | |
| X | g.155022438C>A | CA414920486 | F8 | c.115G>T (p.Asp39Tyr) c.38+4342G>T (n.38+4342G>T) c.97G>T (p.Asp33Tyr) | |
| X | g.155022438C>G | CA414920487 | F8 | c.115G>C (p.Asp39His) c.38+4342G>C (n.38+4342G>C) c.97G>C (p.Asp33His) | |
| X | g.155022438C>T | CA414920488 | F8 | c.115G>A (p.Asp39Asn) c.38+4342G>A (n.38+4342G>A) c.97G>A (p.Asp33Asn) | |
| X | g.155022439A>C | CA414920490 | F8 | c.114T>G (p.Ser38Arg) c.38+4341T>G (n.38+4341T>G) c.96T>G (p.Ser32Arg) | |
| X | g.155022439A>G | CA519388447 | F8 | c.114T>C (p.Ser38=) c.38+4341T>C (n.38+4341T>C) c.96T>C (p.Ser32=) | |
| X | g.155022439A>T | CA414920489 | F8 | c.114T>A (p.Ser38Arg) c.38+4341T>A (n.38+4341T>A) c.96T>A (p.Ser32Arg) | |
| X | g.155022440C>A | CA414920491 | F8 | c.113G>T (p.Ser38Ile) c.38+4340G>T (n.38+4340G>T) c.95G>T (p.Ser32Ile) | |
| X | g.155022440C>G | CA414920492 | F8 | c.113G>C (p.Ser38Thr) c.38+4340G>C (n.38+4340G>C) c.95G>C (p.Ser32Thr) | |
| X | g.155022440C>T | CA414920493 | F8 | c.113G>A (p.Ser38Asn) c.38+4340G>A (n.38+4340G>A) c.95G>A (p.Ser32Asn) | |
| X | g.155022441T>A | CA414920494 | F8 | c.112A>T (p.Ser38Cys) c.38+4339A>T (n.38+4339A>T) c.94A>T (p.Ser32Cys) | |
| X | g.155022441T>C | CA414920495 | F8 | c.112A>G (p.Ser38Gly) c.38+4339A>G (n.38+4339A>G) c.94A>G (p.Ser32Gly) | |
| X | g.155022441T>G | CA414920496 | F8 | c.112A>C (p.Ser38Arg) c.38+4339A>C (n.38+4339A>C) c.94A>C (p.Ser32Arg) | |
| X | g.155022442_155022443del | CA2695238524 | F8 | c.111_112del (p.Ser38Ter) c.38+4338_38+4339del (n.38+4338_38+4339del) c.93_94del (p.Ser32Ter) | |
| X | g.155022442T>A | CA414920497 | F8 | c.111A>T (p.Gln37His) c.38+4338A>T (n.38+4338A>T) c.93A>T (p.Gln31His) | |
| X | g.155022442T>C | CA519388463 | F8 | c.111A>G (p.Gln37=) c.38+4338A>G (n.38+4338A>G) c.93A>G (p.Gln31=) | |
| X | g.155022442T>G | CA414920498 | F8 | c.111A>C (p.Gln37His) c.38+4338A>C (n.38+4338A>C) c.93A>C (p.Gln31His) | |
| X | g.155022443T>A | CA414920499 | F8 | c.110A>T (p.Gln37Leu) c.38+4337A>T (n.38+4337A>T) c.92A>T (p.Gln31Leu) | |
| X | g.155022443T>C | CA10568645 | F8 | c.110A>G (p.Gln37Arg) c.38+4337A>G (n.38+4337A>G) c.92A>G (p.Gln31Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.155022443T>G | CA414920500 | F8 | c.110A>C (p.Gln37Pro) c.38+4337A>C (n.38+4337A>C) c.92A>C (p.Gln31Pro) | |
| X | g.155022443T= | CA2466865414 | F8 | c.110A= (p.Gln37=) c.38+4337A= (n.38+4337A=) c.92A= (p.Gln31=) | |
| X | g.155022444G>A | CA414920503 | F8 | c.109C>T (p.Gln37Ter) c.38+4336C>T (n.38+4336C>T) c.91C>T (p.Gln31Ter) | |
| X | g.155022444G>C | CA414920502 | F8 | c.109C>G (p.Gln37Glu) c.38+4336C>G (n.38+4336C>G) c.91C>G (p.Gln31Glu) | |
| X | g.155022444G>T | CA414920501 | F8 | c.109C>A (p.Gln37Lys) c.38+4336C>A (n.38+4336C>A) c.91C>A (p.Gln31Lys) | gnomAD v4 |
| X | g.155022445C>A | CA414920504 | F8 | c.108G>T (p.Met36Ile) c.38+4335G>T (n.38+4335G>T) c.90G>T (p.Met30Ile) | |
| X | g.155022445C>G | CA414920505 | F8 | c.108G>C (p.Met36Ile) c.38+4335G>C (n.38+4335G>C) c.90G>C (p.Met30Ile) | |
| X | g.155022445C>T | CA414920506 | F8 | c.108G>A (p.Met36Ile) c.38+4335G>A (n.38+4335G>A) c.90G>A (p.Met30Ile) | |
| X | g.155022445_155022457delinsCATATAGTCCCAT | CA2466865415 | F8 | c.96_108delinsATGGGACTATATG (p.Ser32=) c.38+4323_38+4335delinsATGGGACTATATG (n.38+4323_38+4335delinsATGGGACTATATG) c.78_90delinsATGGGACTATATG (p.Ser26=) | |
| X | g.155022446A= | CA2466865416 | F8 | c.107T= (p.Met36=) c.38+4334T= (n.38+4334T=) c.89T= (p.Met30=) | |
| X | g.155022446A>C | CA414920507 | F8 | c.107T>G (p.Met36Arg) c.38+4334T>G (n.38+4334T>G) c.89T>G (p.Met30Arg) | |
| X | g.155022446A>G | CA414920508 | F8 | c.107T>C (p.Met36Thr) c.38+4334T>C (n.38+4334T>C) c.89T>C (p.Met30Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.155022446A>T | CA414920509 | F8 | c.107T>A (p.Met36Lys) c.38+4334T>A (n.38+4334T>A) c.89T>A (p.Met30Lys) | |
| X | g.155022449_155022450del | CA2695238525 | F8 | c.106_107del (p.Met36AlafsTer3) c.38+4333_38+4334del (n.38+4333_38+4334del) c.88_89del (p.Met30AlafsTer3) | |
| X | g.155022446_155022457del | CA873367304 | F8 | c.96_107del (p.Trp33_Met36del) c.38+4323_38+4334del (n.38+4323_38+4334del) c.78_89del (p.Trp27_Met30del) | dbSNP |
| X | g.155022447T>A | CA414920510 | F8 | c.106A>T (p.Met36Leu) c.38+4333A>T (n.38+4333A>T) c.88A>T (p.Met30Leu) | |
| X | g.155022447T>C | CA414920511 | F8 | c.106A>G (p.Met36Val) c.38+4333A>G (n.38+4333A>G) c.88A>G (p.Met30Val) | |
| X | g.155022447T>G | CA414920512 | F8 | c.106A>C (p.Met36Leu) c.38+4333A>C (n.38+4333A>C) c.88A>C (p.Met30Leu) | |
| X | g.155022448A= | CA2466865417 | F8 | c.105T= (p.Tyr35=) c.38+4332T= (n.38+4332T=) c.87T= (p.Tyr29=) | |
| X | g.155022448A>C | CA414920513 | F8 | c.105T>G (p.Tyr35Ter) c.38+4332T>G (n.38+4332T>G) c.87T>G (p.Tyr29Ter) | |
| X | g.155022448A>G | CA519388503 | F8 | c.105T>C (p.Tyr35=) c.38+4332T>C (n.38+4332T>C) c.87T>C (p.Tyr29=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.155022448A>T | CA414920514 | F8 | c.105T>A (p.Tyr35Ter) c.38+4332T>A (n.38+4332T>A) c.87T>A (p.Tyr29Ter) | |
| X | g.155022449T>A | CA414920516 | F8 | c.104A>T (p.Tyr35Phe) c.38+4331A>T (n.38+4331A>T) c.86A>T (p.Tyr29Phe) | |
| X | g.155022449T>C | CA255228 | F8 | c.104A>G (p.Tyr35Cys) c.38+4331A>G (n.38+4331A>G) c.86A>G (p.Tyr29Cys) | ClinVar dbSNP |
| X | g.155022449T>G | CA414920515 | F8 | c.104A>C (p.Tyr35Ser) c.38+4331A>C (n.38+4331A>C) c.86A>C (p.Tyr29Ser) | |
| X | g.155022449T= | CA2466865418 | F8 | c.104A= (p.Tyr35=) c.38+4331A= (n.38+4331A=) c.86A= (p.Tyr29=) | |
| X | g.155022450A>C | CA414920517 | F8 | c.103T>G (p.Tyr35Asp) c.38+4330T>G (n.38+4330T>G) c.85T>G (p.Tyr29Asp) | |
| X | g.155022450A>G | CA414920518 | F8 | c.103T>C (p.Tyr35His) c.38+4330T>C (n.38+4330T>C) c.85T>C (p.Tyr29His) | |
| X | g.155022450A>T | CA414920519 | F8 | c.103T>A (p.Tyr35Asn) c.38+4330T>A (n.38+4330T>A) c.85T>A (p.Tyr29Asn) | |
| X | g.155022451G>A | CA10568646 | F8 | c.102C>T (p.Asp34=) c.38+4329C>T (n.38+4329C>T) c.84C>T (p.Asp28=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.155022451G>C | CA414920520 | F8 | c.102C>G (p.Asp34Glu) c.38+4329C>G (n.38+4329C>G) c.84C>G (p.Asp28Glu) | ClinVar |
| X | g.155022451G= | CA2466865419 | F8 | c.102C= (p.Asp34=) c.38+4329C= (n.38+4329C=) c.84C= (p.Asp28=) | |
| X | g.155022451G>T | CA414920521 | F8 | c.102C>A (p.Asp34Glu) c.38+4329C>A (n.38+4329C>A) c.84C>A (p.Asp28Glu) | |
| X | g.155022452T>A | CA414920522 | F8 | c.101A>T (p.Asp34Val) c.38+4328A>T (n.38+4328A>T) c.83A>T (p.Asp28Val) | ClinVar dbSNP |
| X | g.155022452T>C | CA414920523 | F8 | c.101A>G (p.Asp34Gly) c.38+4328A>G (n.38+4328A>G) c.83A>G (p.Asp28Gly) | |
| X | g.155022452T>G | CA414920524 | F8 | c.101A>C (p.Asp34Ala) c.38+4328A>C (n.38+4328A>C) c.83A>C (p.Asp28Ala) | |
| X | g.155022452T= | CA2466865420 | F8 | c.101A= (p.Asp34=) c.38+4328A= (n.38+4328A=) c.83A= (p.Asp28=) | |
| X | g.155022453C>A | CA414920525 | F8 | c.100G>T (p.Asp34Tyr) c.38+4327G>T (n.38+4327G>T) c.82G>T (p.Asp28Tyr) | |
| X | g.155022453C= | CA2466865421 | F8 | c.100G= (p.Asp34=) c.38+4327G= (n.38+4327G=) c.82G= (p.Asp28=) | |
| X | g.155022453C>G | CA414920526 | F8 | c.100G>C (p.Asp34His) c.38+4327G>C (n.38+4327G>C) c.82G>C (p.Asp28His) | |
| X | g.155022453C>T | CA414920527 | F8 | c.100G>A (p.Asp34Asn) c.38+4327G>A (n.38+4327G>A) c.82G>A (p.Asp28Asn) | dbSNP |
| X | g.155022455del | CA2695238527 | F8 | c.100del (p.Asp34ThrfsTer?) c.100del (p.Asp34ThrfsTer11) c.38+4327del (n.38+4327del) c.82del (p.Asp28ThrfsTer?) | |
| X | g.155022454C>A | CA414920529 | F8 | c.99G>T (p.Trp33Cys) c.38+4326G>T (n.38+4326G>T) c.81G>T (p.Trp27Cys) | |
| X | g.155022454C= | CA2466865422 | F8 | c.99G= (p.Trp33=) c.38+4326G= (n.38+4326G=) c.81G= (p.Trp27=) | |
| X | g.155022454C>G | CA414920530 | F8 | c.99G>C (p.Trp33Cys) c.38+4326G>C (n.38+4326G>C) c.81G>C (p.Trp27Cys) | |
| X | g.155022454C>T | CA414920528 | F8 | c.99G>A (p.Trp33Ter) c.38+4326G>A (n.38+4326G>A) c.81G>A (p.Trp27Ter) | dbSNP |
| X | g.155022454_155022458delinsACTTTGCAT | CA2695238528 | F8 | c.95_99delinsATGCAAAGT (p.Ser32TyrfsTer4) c.38+4322_38+4326delinsATGCAAAGT (n.38+4322_38+4326delinsATGCAAAGT) c.77_81delinsATGCAAAGT (p.Ser26TyrfsTer4) | |
| X | g.155022455C>A | CA414920532 | F8 | c.98G>T (p.Trp33Leu) c.38+4325G>T (n.38+4325G>T) c.80G>T (p.Trp27Leu) | |
| X | g.155022455C>G | CA414920531 | F8 | c.98G>C (p.Trp33Ser) c.38+4325G>C (n.38+4325G>C) c.80G>C (p.Trp27Ser) | |
| X | g.155022455C>T | CA414920533 | F8 | c.98G>A (p.Trp33Ter) c.38+4325G>A (n.38+4325G>A) c.80G>A (p.Trp27Ter) | |
| X | g.155022456A>C | CA414920534 | F8 | c.97T>G (p.Trp33Gly) c.38+4324T>G (n.38+4324T>G) c.79T>G (p.Trp27Gly) | |
| X | g.155022456A>G | CA414920536 | F8 | c.97T>C (p.Trp33Arg) c.38+4324T>C (n.38+4324T>C) c.79T>C (p.Trp27Arg) | |
| X | g.155022456A>T | CA414920535 | F8 | c.97T>A (p.Trp33Arg) c.38+4324T>A (n.38+4324T>A) c.79T>A (p.Trp27Arg) | |
| X | g.155022457T>A | CA519388556 | F8 | c.96A>T (p.Ser32=) c.38+4323A>T (n.38+4323A>T) c.78A>T (p.Ser26=) | |
| X | g.155022457T>C | CA519388558 | F8 | c.96A>G (p.Ser32=) c.38+4323A>G (n.38+4323A>G) c.78A>G (p.Ser26=) | gnomAD v4 |
| X | g.155022457T>G | CA519388561 | F8 | c.96A>C (p.Ser32=) c.38+4323A>C (n.38+4323A>C) c.78A>C (p.Ser26=) | |
| X | g.155022457dup | CA2695238530 | F8 | c.96dup (p.Trp33MetfsTer7) c.38+4323dup (n.38+4323dup) c.78dup (p.Trp27MetfsTer7) | |
| X | g.155022458del | CA2695238532 | F8 | c.95del (p.Ser32TyrfsTer?) c.95del (p.Ser32TyrfsTer13) c.38+4322del (n.38+4322del) c.77del (p.Ser26TyrfsTer?) | |
| X | g.155022458G>A | CA414920537 | F8 | c.95C>T (p.Ser32Leu) c.38+4322C>T (n.38+4322C>T) c.77C>T (p.Ser26Leu) | COSMIC COSMIC |
| X | g.155022458G>C | CA414920539 | F8 | c.95C>G (p.Ser32Ter) c.38+4322C>G (n.38+4322C>G) c.77C>G (p.Ser26Ter) | |
| X | g.155022458G>T | CA414920538 | F8 | c.95C>A (p.Ser32Ter) c.38+4322C>A (n.38+4322C>A) c.77C>A (p.Ser26Ter) | |
| X | g.155022459A>C | CA414920540 | F8 | c.94T>G (p.Ser32Ala) c.38+4321T>G (n.38+4321T>G) c.76T>G (p.Ser26Ala) | |
| X | g.155022459A>G | CA414920541 | F8 | c.94T>C (p.Ser32Pro) c.38+4321T>C (n.38+4321T>C) c.76T>C (p.Ser26Pro) | |
| X | g.155022459A>T | CA414920542 | F8 | c.94T>A (p.Ser32Thr) c.38+4321T>A (n.38+4321T>A) c.76T>A (p.Ser26Thr) | |
| X | g.155022460C>A | CA519388578 | F8 | c.93G>T (p.Leu31=) c.38+4320G>T (n.38+4320G>T) c.75G>T (p.Leu25=) | |
| X | g.155022460C>G | CA519388585 | F8 | c.93G>C (p.Leu31=) c.38+4320G>C (n.38+4320G>C) c.75G>C (p.Leu25=) | |
| X | g.155022460C>T | CA519388588 | F8 | c.93G>A (p.Leu31=) c.38+4320G>A (n.38+4320G>A) c.75G>A (p.Leu25=) | gnomAD v4 |
| X | g.155022461A= | CA2466865423 | F8 | c.92T= (p.Leu31=) c.38+4319T= (n.38+4319T=) c.74T= (p.Leu25=) | |
| X | g.155022461A>C | CA414920543 | F8 | c.92T>G (p.Leu31Arg) c.38+4319T>G (n.38+4319T>G) c.74T>G (p.Leu25Arg) | |
| X | g.155022461A>G | CA414920544 | F8 | c.92T>C (p.Leu31Pro) c.38+4319T>C (n.38+4319T>C) c.74T>C (p.Leu25Pro) | dbSNP |
| X | g.155022461A>T | CA414920545 | F8 | c.92T>A (p.Leu31Gln) c.38+4319T>A (n.38+4319T>A) c.74T>A (p.Leu25Gln) | |
| X | g.155022462G>A | CA519388597 | F8 | c.91C>T (p.Leu31=) c.38+4318C>T (n.38+4318C>T) c.73C>T (p.Leu25=) | |
| X | g.155022462G>C | CA414920546 | F8 | c.91C>G (p.Leu31Val) c.38+4318C>G (n.38+4318C>G) c.73C>G (p.Leu25Val) | |
| X | g.155022462G>T | CA414920547 | F8 | c.91C>A (p.Leu31Met) c.38+4318C>A (n.38+4318C>A) c.73C>A (p.Leu25Met) | |
| X | g.155022463T>A | CA414920548 | F8 | c.90A>T (p.Glu30Asp) c.38+4317A>T (n.38+4317A>T) c.72A>T (p.Glu24Asp) | |
| X | g.155022463T>C | CA519388606 | F8 | c.90A>G (p.Glu30=) c.38+4317A>G (n.38+4317A>G) c.72A>G (p.Glu24=) | |
| X | g.155022463T>G | CA414920549 | F8 | c.90A>C (p.Glu30Asp) c.38+4317A>C (n.38+4317A>C) c.72A>C (p.Glu24Asp) | |
| X | g.155022464dup | CA2695238534 | F8 | c.90dup (p.Leu31ThrfsTer9) c.38+4317dup (n.38+4317dup) c.72dup (p.Leu25ThrfsTer9) | |
| X | g.155022464T>A | CA255047 | F8 | c.89A>T (p.Glu30Val) c.38+4316A>T (n.38+4316A>T) c.71A>T (p.Glu24Val) | ClinVar dbSNP |
| X | g.155022464T>C | CA414920550 | F8 | c.89A>G (p.Glu30Gly) c.38+4316A>G (n.38+4316A>G) c.71A>G (p.Glu24Gly) | ClinVar dbSNP |
| X | g.155022464T>G | CA414920551 | F8 | c.89A>C (p.Glu30Ala) c.38+4316A>C (n.38+4316A>C) c.71A>C (p.Glu24Ala) | |
| X | g.155022464T= | CA2466865424 | F8 | c.89A= (p.Glu30=) c.38+4316A= (n.38+4316A=) c.71A= (p.Glu24=) | |
| X | g.155022465C>A | CA414920552 | F8 | c.88G>T (p.Glu30Ter) c.38+4315G>T (n.38+4315G>T) c.70G>T (p.Glu24Ter) | |
| X | g.155022465C= | CA2466865425 | F8 | c.88G= (p.Glu30=) c.38+4315G= (n.38+4315G=) c.70G= (p.Glu24=) | |
| X | g.155022465C>G | CA414920553 | F8 | c.88G>C (p.Glu30Gln) c.38+4315G>C (n.38+4315G>C) c.70G>C (p.Glu24Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.155022465C>T | CA414920554 | F8 | c.88G>A (p.Glu30Lys) c.38+4315G>A (n.38+4315G>A) c.70G>A (p.Glu24Lys) | dbSNP |
| X | g.155022465_155022470delinsCCACTG | CA2466865426 | F8 | c.83_88delinsCAGTGG (p.Ala28=) c.38+4310_38+4315delinsCAGTGG (n.38+4310_38+4315delinsCAGTGG) c.65_70delinsCAGTGG (p.Ala22=) | |
| X | g.155022467_155022474del | CA2695238536 | F8 | c.81_88del (p.Ala28ThrfsTer9) c.38+4308_38+4315del (n.38+4308_38+4315del) c.63_70del (p.Ala22ThrfsTer9) | |
| X | g.155022466C>A | CA519388621 | F8 | c.87G>T (p.Val29=) c.38+4314G>T (n.38+4314G>T) c.69G>T (p.Val23=) | |
| X | g.155022466C>G | CA519388625 | F8 | c.87G>C (p.Val29=) c.38+4314G>C (n.38+4314G>C) c.69G>C (p.Val23=) | |
| X | g.155022466C>T | CA519388629 | F8 | c.87G>A (p.Val29=) c.38+4314G>A (n.38+4314G>A) c.69G>A (p.Val23=) | |
| X | g.155022469_155022473del | CA915952172 | F8 | c.83_87del (p.Ala28GlyfsTer10) c.38+4310_38+4314del (n.38+4310_38+4314del) c.65_69del (p.Ala22GlyfsTer10) | ClinVar dbSNP |
| X | g.155022467A>C | CA414920555 | F8 | c.86T>G (p.Val29Gly) c.38+4313T>G (n.38+4313T>G) c.68T>G (p.Val23Gly) | |
| X | g.155022467A>G | CA414920556 | F8 | c.86T>C (p.Val29Ala) c.38+4313T>C (n.38+4313T>C) c.68T>C (p.Val23Ala) | |
| X | g.155022467A>T | CA414920557 | F8 | c.86T>A (p.Val29Glu) c.38+4313T>A (n.38+4313T>A) c.68T>A (p.Val23Glu) | |
| X | g.155022467_155022481del | CA2695238537 | F8 | c.72_86del (p.Tyr24Ter) c.38+4299_38+4313del (n.38+4299_38+4313del) c.54_68del (p.Tyr18Ter) | |
| X | g.155022468C>A | CA414920558 | F8 | c.85G>T (p.Val29Leu) c.38+4312G>T (n.38+4312G>T) c.67G>T (p.Val23Leu) | |
| X | g.155022468C>G | CA414920559 | F8 | c.85G>C (p.Val29Leu) c.38+4312G>C (n.38+4312G>C) c.67G>C (p.Val23Leu) | |
| X | g.155022468C>T | CA414920560 | F8 | c.85G>A (p.Val29Met) c.38+4312G>A (n.38+4312G>A) c.67G>A (p.Val23Met) | |
| X | g.155022469T>A | CA519388644 | F8 | c.84A>T (p.Ala28=) c.38+4311A>T (n.38+4311A>T) c.66A>T (p.Ala22=) | |
| X | g.155022469T>C | CA519388646 | F8 | c.84A>G (p.Ala28=) c.38+4311A>G (n.38+4311A>G) c.66A>G (p.Ala22=) | dbSNP |
| X | g.155022469T>G | CA519388648 | F8 | c.84A>C (p.Ala28=) c.38+4311A>C (n.38+4311A>C) c.66A>C (p.Ala22=) | |
| X | g.155022469T= | CA2466865427 | F8 | c.84A= (p.Ala28=) c.38+4311A= (n.38+4311A=) c.66A= (p.Ala22=) | |
| X | g.155022470G>A | CA414920562 | F8 | c.83C>T (p.Ala28Val) c.38+4310C>T (n.38+4310C>T) c.65C>T (p.Ala22Val) | |
| X | g.155022470G>C | CA414920563 | F8 | c.83C>G (p.Ala28Gly) c.38+4310C>G (n.38+4310C>G) c.65C>G (p.Ala22Gly) | |
| X | g.155022470G>T | CA414920561 | F8 | c.83C>A (p.Ala28Glu) c.38+4310C>A (n.38+4310C>A) c.65C>A (p.Ala22Glu) | |
| X | g.155022470_155022471delinsTT | CA2695238538 | F8 | c.82_83delinsAA (p.Ala28Lys) c.38+4309_38+4310delinsAA (n.38+4309_38+4310delinsAA) c.64_65delinsAA (p.Ala22Lys) | |
| X | g.155022471C>A | CA414920564 | F8 | c.82G>T (p.Ala28Ser) c.38+4309G>T (n.38+4309G>T) c.64G>T (p.Ala22Ser) | |
| X | g.155022471C= | CA2466865428 | F8 | c.82G= (p.Ala28=) c.38+4309G= (n.38+4309G=) c.64G= (p.Ala22=) | |
| X | g.155022471C>G | CA414920565 | F8 | c.82G>C (p.Ala28Pro) c.38+4309G>C (n.38+4309G>C) c.64G>C (p.Ala22Pro) | |
| X | g.155022471C>T | CA414920566 | F8 | c.82G>A (p.Ala28Thr) c.38+4309G>A (n.38+4309G>A) c.64G>A (p.Ala22Thr) | dbSNP |
| X | g.155022472A= | CA2466865429 | F8 | c.81T= (p.Gly27=) c.38+4308T= (n.38+4308T=) c.63T= (p.Gly21=) | |
| X | g.155022472A>C | CA10568647 | F8 | c.81T>G (p.Gly27=) c.38+4308T>G (n.38+4308T>G) c.63T>G (p.Gly21=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.155022472A>G | CA519388664 | F8 | c.81T>C (p.Gly27=) c.38+4308T>C (n.38+4308T>C) c.63T>C (p.Gly21=) | |
| X | g.155022472A>T | CA519388665 | F8 | c.81T>A (p.Gly27=) c.38+4308T>A (n.38+4308T>A) c.63T>A (p.Gly21=) | |
| X | g.155022473C>A | CA414920567 | F8 | c.80G>T (p.Gly27Val) c.38+4307G>T (n.38+4307G>T) c.62G>T (p.Gly21Val) | |
| X | g.155022473C= | CA2466865430 | F8 | c.80G= (p.Gly27=) c.38+4307G= (n.38+4307G=) c.62G= (p.Gly21=) | |
| X | g.155022473C>G | CA414920568 | F8 | c.80G>C (p.Gly27Ala) c.38+4307G>C (n.38+4307G>C) c.62G>C (p.Gly21Ala) | |
| X | g.155022473C>T | CA414920569 | F8 | c.80G>A (p.Gly27Asp) c.38+4307G>A (n.38+4307G>A) c.62G>A (p.Gly21Asp) | dbSNP |
| X | g.155022474C>A | CA414920570 | F8 | c.79G>T (p.Gly27Cys) c.38+4306G>T (n.38+4306G>T) c.61G>T (p.Gly21Cys) | |
| X | g.155022474C>G | CA414920571 | F8 | c.79G>C (p.Gly27Arg) c.38+4306G>C (n.38+4306G>C) c.61G>C (p.Gly21Arg) | |
| X | g.155022474C>T | CA414920572 | F8 | c.79G>A (p.Gly27Ser) c.38+4306G>A (n.38+4306G>A) c.61G>A (p.Gly21Ser) | |
| X | g.155022475C>A | CA519388676 | F8 | c.78G>T (p.Leu26=) c.38+4305G>T (n.38+4305G>T) c.60G>T (p.Leu20=) | |
| X | g.155022475C>G | CA519388679 | F8 | c.78G>C (p.Leu26=) c.38+4305G>C (n.38+4305G>C) c.60G>C (p.Leu20=) | |
| X | g.155022475C>T | CA519388683 | F8 | c.78G>A (p.Leu26=) c.38+4305G>A (n.38+4305G>A) c.60G>A (p.Leu20=) | |
| X | g.155022476A= | CA2466865431 | F8 | c.77T= (p.Leu26=) c.38+4304T= (n.38+4304T=) c.59T= (p.Leu20=) | |
| X | g.155022476A>C | CA255046 | F8 | c.77T>G (p.Leu26Arg) c.38+4304T>G (n.38+4304T>G) c.59T>G (p.Leu20Arg) | ClinVar dbSNP |
| X | g.155022476A>G | CA414920574 | F8 | c.77T>C (p.Leu26Pro) c.38+4304T>C (n.38+4304T>C) c.59T>C (p.Leu20Pro) | |
| X | g.155022476A>T | CA414920573 | F8 | c.77T>A (p.Leu26Gln) c.38+4304T>A (n.38+4304T>A) c.59T>A (p.Leu20Gln) | |
| X | g.155022477G>A | CA519388692 | F8 | c.76C>T (p.Leu26=) c.38+4303C>T (n.38+4303C>T) c.58C>T (p.Leu20=) | |
| X | g.155022477G>C | CA414920575 | F8 | c.76C>G (p.Leu26Val) c.38+4303C>G (n.38+4303C>G) c.58C>G (p.Leu20Val) | |
| X | g.155022477G>T | CA414920576 | F8 | c.76C>A (p.Leu26Met) c.38+4303C>A (n.38+4303C>A) c.58C>A (p.Leu20Met) | |
| X | g.155022478G>A | CA519388700 | F8 | c.75C>T (p.Tyr25=) c.38+4302C>T (n.38+4302C>T) c.57C>T (p.Tyr19=) | |
| X | g.155022478G>C | CA414920577 | F8 | c.75C>G (p.Tyr25Ter) c.38+4302C>G (n.38+4302C>G) c.57C>G (p.Tyr19Ter) | dbSNP |
| X | g.155022478G= | CA2466865432 | F8 | c.75C= (p.Tyr25=) c.38+4302C= (n.38+4302C=) c.57C= (p.Tyr19=) | |
| X | g.155022478G>T | CA414920578 | F8 | c.75C>A (p.Tyr25Ter) c.38+4302C>A (n.38+4302C>A) c.57C>A (p.Tyr19Ter) | |
| X | g.155022478_155022480delinsCTG | CA2695238540 | F8 | c.73_75delinsCAG (p.Tyr25Gln) c.38+4300_38+4302delinsCAG (n.38+4300_38+4302delinsCAG) c.55_57delinsCAG (p.Tyr19Gln) | |
| X | g.155022481_155022483del | CA2695238539 | F8 | c.73_75del (p.Tyr25del) c.38+4300_38+4302del (n.38+4300_38+4302del) c.55_57del (p.Tyr19del) | |
| X | g.155022479T>A | CA414920579 | F8 | c.74A>T (p.Tyr25Phe) c.38+4301A>T (n.38+4301A>T) c.56A>T (p.Tyr19Phe) | |
| X | g.155022479T>C | CA414920580 | F8 | c.74A>G (p.Tyr25Cys) c.38+4301A>G (n.38+4301A>G) c.56A>G (p.Tyr19Cys) | ClinVar dbSNP |
| X | g.155022479T>G | CA414920581 | F8 | c.74A>C (p.Tyr25Ser) c.38+4301A>C (n.38+4301A>C) c.56A>C (p.Tyr19Ser) | |
| X | g.155022480A>C | CA414920582 | F8 | c.73T>G (p.Tyr25Asp) c.38+4300T>G (n.38+4300T>G) c.55T>G (p.Tyr19Asp) | |
| X | g.155022480A>G | CA414920583 | F8 | c.73T>C (p.Tyr25His) c.38+4300T>C (n.38+4300T>C) c.55T>C (p.Tyr19His) | gnomAD v4 |
| X | g.155022480A>T | CA414920584 | F8 | c.73T>A (p.Tyr25Asn) c.38+4300T>A (n.38+4300T>A) c.55T>A (p.Tyr19Asn) | |
| X | g.155022480dup | CA2695238541 | F8 | c.73dup (p.Tyr25LeufsTer15) c.38+4300dup (n.38+4300dup) c.55dup (p.Tyr19LeufsTer15) | |
| X | g.155022481G>A | CA519388722 | F8 | c.72C>T (p.Tyr24=) c.38+4299C>T (n.38+4299C>T) c.54C>T (p.Tyr18=) | |
| X | g.155022481G>C | CA414920585 | F8 | c.72C>G (p.Tyr24Ter) c.38+4299C>G (n.38+4299C>G) c.54C>G (p.Tyr18Ter) | dbSNP |
| X | g.155022481G= | CA2466865433 | F8 | c.72C= (p.Tyr24=) c.38+4299C= (n.38+4299C=) c.54C= (p.Tyr18=) | |
| X | g.155022481G>T | CA414920586 | F8 | c.72C>A (p.Tyr24Ter) c.38+4299C>A (n.38+4299C>A) c.54C>A (p.Tyr18Ter) | |
| X | g.155022482T>A | CA414920589 | F8 | c.71A>T (p.Tyr24Phe) c.38+4298A>T (n.38+4298A>T) c.53A>T (p.Tyr18Phe) | |
| X | g.155022482T>C | CA414920588 | F8 | c.71A>G (p.Tyr24Cys) c.38+4298A>G (n.38+4298A>G) c.53A>G (p.Tyr18Cys) | gnomAD v4 |
| X | g.155022482T>G | CA414920587 | F8 | c.71A>C (p.Tyr24Ser) c.38+4298A>C (n.38+4298A>C) c.53A>C (p.Tyr18Ser) | |
| X | g.155022482_155022483insGGCACTAAAGC | CA2695238942 | F8 | c.70_71insGCTTTAGTGCC (p.Tyr24CysfsTer?) c.70_71insGCTTTAGTGCC (p.Tyr24CysfsTer25) c.38+4297_38+4298insGCTTTAGTGCC (n.38+4297_38+4298insGCTTTAGTGCC) c.52_53insGCTTTAGTGCC (p.Tyr18CysfsTer?) | |
| X | g.155022483A>C | CA414920590 | F8 | c.70T>G (p.Tyr24Asp) c.38+4297T>G (n.38+4297T>G) c.52T>G (p.Tyr18Asp) | |
| X | g.155022483A>G | CA414920591 | F8 | c.70T>C (p.Tyr24His) c.38+4297T>C (n.38+4297T>C) c.52T>C (p.Tyr18His) | COSMIC COSMIC |
| X | g.155022483A>T | CA414920592 | F8 | c.70T>A (p.Tyr24Asn) c.38+4297T>A (n.38+4297T>A) c.52T>A (p.Tyr18Asn) | |
| X | g.155022484T>A | CA414920593 | F8 | c.69A>T (p.Arg23Ser) c.38+4296A>T (n.38+4296A>T) c.51A>T (p.Arg17Ser) | |
| X | g.155022484T>C | CA10568648 | F8 | c.69A>G (p.Arg23=) c.38+4296A>G (n.38+4296A>G) c.51A>G (p.Arg17=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.155022484T>G | CA414920594 | F8 | c.69A>C (p.Arg23Ser) c.38+4296A>C (n.38+4296A>C) c.51A>C (p.Arg17Ser) | |
| X | g.155022484T= | CA2466865434 | F8 | c.69A= (p.Arg23=) c.38+4296A= (n.38+4296A=) c.51A= (p.Arg17=) | |
| X | g.155022485C>A | CA414920595 | F8 | c.68G>T (p.Arg23Ile) c.38+4295G>T (n.38+4295G>T) c.50G>T (p.Arg17Ile) | |
| X | g.155022485C>G | CA414920596 | F8 | c.68G>C (p.Arg23Thr) c.38+4295G>C (n.38+4295G>C) c.50G>C (p.Arg17Thr) | |
| X | g.155022485C>T | CA414920597 | F8 | c.68G>A (p.Arg23Lys) c.38+4295G>A (n.38+4295G>A) c.50G>A (p.Arg17Lys) | |
| X | g.155022486T>A | CA414920598 | F8 | c.67A>T (p.Arg23Ter) c.38+4294A>T (n.38+4294A>T) c.49A>T (p.Arg17Ter) | |
| X | g.155022486T>C | CA414920599 | F8 | c.67A>G (p.Arg23Gly) c.38+4294A>G (n.38+4294A>G) c.49A>G (p.Arg17Gly) | |
| X | g.155022486T>G | CA519388756 | F8 | c.67A>C (p.Arg23=) c.38+4294A>C (n.38+4294A>C) c.49A>C (p.Arg17=) | |
| X | g.155022487T>A | CA414920600 | F8 | c.66A>T (p.Arg22Ser) c.38+4293A>T (n.38+4293A>T) c.48A>T (p.Arg16Ser) | |
| X | g.155022487T>C | CA519388761 | F8 | c.66A>G (p.Arg22=) c.38+4293A>G (n.38+4293A>G) c.48A>G (p.Arg16=) | |
| X | g.155022487T>G | CA414920601 | F8 | c.66A>C (p.Arg22Ser) c.38+4293A>C (n.38+4293A>C) c.48A>C (p.Arg16Ser) | |
| X | g.155022488C>A | CA414920604 | F8 | c.65G>T (p.Arg22Ile) c.38+4292G>T (n.38+4292G>T) c.47G>T (p.Arg16Ile) | |
| X | g.155022488C= | CA2466865435 | F8 | c.65G= (p.Arg22=) c.38+4292G= (n.38+4292G=) c.47G= (p.Arg16=) | |
| X | g.155022488C>G | CA414920602 | F8 | c.65G>C (p.Arg22Thr) c.38+4292G>C (n.38+4292G>C) c.47G>C (p.Arg16Thr) | |
| X | g.155022488C>T | CA414920603 | F8 | c.65G>A (p.Arg22Lys) c.38+4292G>A (n.38+4292G>A) c.47G>A (p.Arg16Lys) | ClinVar dbSNP |
| X | g.155022489T>A | CA414920605 | F8 | c.64A>T (p.Arg22Ter) c.38+4291A>T (n.38+4291A>T) c.46A>T (p.Arg16Ter) | |
| X | g.155022489T>C | CA414920606 | F8 | c.64A>G (p.Arg22Gly) c.38+4291A>G (n.38+4291A>G) c.46A>G (p.Arg16Gly) | |
| X | g.155022489T>G | CA519388771 | F8 | c.64A>C (p.Arg22=) c.38+4291A>C (n.38+4291A>C) c.46A>C (p.Arg16=) | |
| X | g.155022490G>A | CA519388777 | F8 | c.63C>T (p.Thr21=) c.38+4290C>T (n.38+4290C>T) c.45C>T (p.Thr15=) | gnomAD v4 |
| X | g.155022490G>C | CA519388780 | F8 | c.63C>G (p.Thr21=) c.38+4290C>G (n.38+4290C>G) c.45C>G (p.Thr15=) | |
| X | g.155022490G>T | CA519388783 | F8 | c.63C>A (p.Thr21=) c.38+4290C>A (n.38+4290C>A) c.45C>A (p.Thr15=) | |
| X | g.155022491del | CA2511280739 | F8 | c.63del (p.Arg22GlufsTer?) c.63del (p.Arg22GlufsTer23) c.38+4290del (n.38+4290del) c.45del (p.Arg16GlufsTer?) | |
| X | g.155022491G>A | CA414920607 | F8 | c.62C>T (p.Thr21Ile) c.38+4289C>T (n.38+4289C>T) c.44C>T (p.Thr15Ile) | |
| X | g.155022491G>C | CA414920608 | F8 | c.62C>G (p.Thr21Ser) c.38+4289C>G (n.38+4289C>G) c.44C>G (p.Thr15Ser) | |
| X | g.155022491G>T | CA414920609 | F8 | c.62C>A (p.Thr21Asn) c.38+4289C>A (n.38+4289C>A) c.44C>A (p.Thr15Asn) | |
| X | g.155022492T>A | CA414920610 | F8 | c.61A>T (p.Thr21Ser) c.38+4288A>T (n.38+4288A>T) c.43A>T (p.Thr15Ser) | |
| X | g.155022492T>C | CA414920611 | F8 | c.61A>G (p.Thr21Ala) c.38+4288A>G (n.38+4288A>G) c.43A>G (p.Thr15Ala) | |
| X | g.155022492T>G | CA414920612 | F8 | c.61A>C (p.Thr21Pro) c.38+4288A>C (n.38+4288A>C) c.43A>C (p.Thr15Pro) | |
| X | g.155022493G>A | CA519388795 | F8 | c.60C>T (p.Ala20=) c.38+4287C>T (n.38+4287C>T) c.42C>T (p.Ala14=) | gnomAD v4 |
| X | g.155022493G>C | CA519388798 | F8 | c.60C>G (p.Ala20=) c.38+4287C>G (n.38+4287C>G) c.42C>G (p.Ala14=) | |
| X | g.155022493G= | CA2466865436 | F8 | c.60C= (p.Ala20=) c.38+4287C= (n.38+4287C=) c.42C= (p.Ala14=) | |
| X | g.155022493G>T | CA519388799 | F8 | c.60C>A (p.Ala20=) c.38+4287C>A (n.38+4287C>A) c.42C>A (p.Ala14=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.155022494G>A | CA414920613 | F8 | c.59C>T (p.Ala20Val) c.38+4286C>T (n.38+4286C>T) c.41C>T (p.Ala14Val) | |
| X | g.155022494G>C | CA414920614 | F8 | c.59C>G (p.Ala20Gly) c.38+4286C>G (n.38+4286C>G) c.41C>G (p.Ala14Gly) | |
| X | g.155022494G>T | CA414920615 | F8 | c.59C>A (p.Ala20Asp) c.38+4286C>A (n.38+4286C>A) c.41C>A (p.Ala14Asp) | COSMIC COSMIC |
| X | g.155022495C>A | CA414920616 | F8 | c.58G>T (p.Ala20Ser) c.38+4285G>T (n.38+4285G>T) c.40G>T (p.Ala14Ser) | |
| X | g.155022495C>G | CA414920618 | F8 | c.58G>C (p.Ala20Pro) c.38+4285G>C (n.38+4285G>C) c.40G>C (p.Ala14Pro) | |
| X | g.155022495C>T | CA414920617 | F8 | c.58G>A (p.Ala20Thr) c.38+4285G>A (n.38+4285G>A) c.40G>A (p.Ala14Thr) | gnomAD v4 |
| X | g.155022496A>C | CA414920619 | F8 | c.57T>G (p.Ser19Arg) c.38+4284T>G (n.38+4284T>G) c.39T>G (p.Gly13=) | |
| X | g.155022496A>G | CA519388814 | F8 | c.57T>C (p.Ser19=) c.38+4284T>C (n.38+4284T>C) c.39T>C (p.Gly13=) | |
| X | g.155022496A>T | CA414920620 | F8 | c.57T>A (p.Ser19Arg) c.38+4284T>A (n.38+4284T>A) c.39T>A (p.Gly13=) | |
| X | g.155022497C>A | CA414920621 | F8 | c.56G>T (p.Ser19Ile) c.38+4283G>T (n.38+4283G>T) c.39-1G>T (n.39-1G>T) | |
| X | g.155022497C>G | CA414920622 | F8 | c.56G>C (p.Ser19Thr) c.38+4283G>C (n.38+4283G>C) c.39-1G>C (n.39-1G>C) | |
| X | g.155022497C>T | CA414920623 | F8 | c.56G>A (p.Ser19Asn) c.38+4283G>A (n.38+4283G>A) c.39-1G>A (n.39-1G>A) | |
| X | g.155022498T>A | CA414920624 | F8 | c.55A>T (p.Ser19Cys) c.38+4282A>T (n.38+4282A>T) c.39-2A>T (n.39-2A>T) | |
| X | g.155022498T>C | CA414920625 | F8 | c.55A>G (p.Ser19Gly) c.38+4282A>G (n.38+4282A>G) c.39-2A>G (n.39-2A>G) | |
| X | g.155022498T>G | CA414920626 | F8 | c.55A>C (p.Ser19Arg) c.38+4282A>C (n.38+4282A>C) c.39-2A>C (n.39-2A>C) | ClinVar dbSNP |
| X | g.155022499A>C | CA414920627 | F8 | c.54T>G (p.Phe18Leu) c.38+4281T>G (n.38+4281T>G) c.39-3T>G (n.39-3T>G) | |
| X | g.155022499A>G | CA519388826 | F8 | c.54T>C (p.Phe18=) c.38+4281T>C (n.38+4281T>C) c.39-3T>C (n.39-3T>C) | |
| X | g.155022499A>T | CA414920628 | F8 | c.54T>A (p.Phe18Leu) c.38+4281T>A (n.38+4281T>A) c.39-3T>A (n.39-3T>A) | |
| X | g.155022500A>C | CA414920631 | F8 | c.53T>G (p.Phe18Cys) c.38+4280T>G (n.38+4280T>G) c.39-4T>G (n.39-4T>G) | |
| X | g.155022500A>G | CA414920630 | F8 | c.53T>C (p.Phe18Ser) c.38+4280T>C (n.38+4280T>C) c.39-4T>C (n.39-4T>C) | |
| X | g.155022500A>T | CA414920629 | F8 | c.53T>A (p.Phe18Tyr) c.38+4280T>A (n.38+4280T>A) c.39-4T>A (n.39-4T>A) | |
| X | g.155022501A>C | CA414920632 | F8 | c.52T>G (p.Phe18Val) c.38+4279T>G (n.38+4279T>G) c.39-5T>G (n.39-5T>G) | |
| X | g.155022501A>G | CA414920633 | F8 | c.52T>C (p.Phe18Leu) c.38+4279T>C (n.38+4279T>C) c.39-5T>C (n.39-5T>C) | |
| X | g.155022501A>T | CA414920634 | F8 | c.52T>A (p.Phe18Ile) c.38+4279T>A (n.38+4279T>A) c.39-5T>A (n.39-5T>A) | |
| X | g.155022502G>A | CA10568649 | F8 | c.51C>T (p.Cys17=) c.38+4278C>T (n.38+4278C>T) c.39-6C>T (n.39-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.155022502G>C | CA414920635 | F8 | c.51C>G (p.Cys17Trp) c.38+4278C>G (n.38+4278C>G) c.39-6C>G (n.39-6C>G) | |
| X | g.155022502G= | CA2466865437 | F8 | c.51C= (p.Cys17=) c.38+4278C= (n.38+4278C=) c.39-6C= (n.39-6C=) | |
| X | g.155022502G>T | CA414920636 | F8 | c.51C>A (p.Cys17Ter) c.38+4278C>A (n.38+4278C>A) c.39-6C>A (n.39-6C>A) | |
| X | g.155022503C>A | CA414920637 | F8 | c.50G>T (p.Cys17Phe) c.38+4277G>T (n.38+4277G>T) c.39-7G>T (n.39-7G>T) | |
| X | g.155022503C= | CA2466865438 | F8 | c.50G= (p.Cys17=) c.38+4277G= (n.38+4277G=) c.39-7G= (n.39-7G=) | |
| X | g.155022503C>G | CA414920638 | F8 | c.50G>C (p.Cys17Ser) c.38+4277G>C (n.38+4277G>C) c.39-7G>C (n.39-7G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.155022503C>T | CA414920639 | F8 | c.50G>A (p.Cys17Tyr) c.38+4277G>A (n.38+4277G>A) c.39-7G>A (n.39-7G>A) | COSMIC COSMIC |
| X | g.155022505_155025612del | CA1139667919 | F8 | c.38+1170_38+4277del (n.38+1170_38+4277del) c.38+1170_39-7del (n.38+1170_39-7del) | ClinVar |
| X | g.155022504A>C | CA414920640 | F8 | c.49T>G (p.Cys17Gly) c.38+4276T>G (n.38+4276T>G) c.39-8T>G (n.39-8T>G) | |
| X | g.155022504A>G | CA414920641 | F8 | c.49T>C (p.Cys17Arg) c.38+4276T>C (n.38+4276T>C) c.39-8T>C (n.39-8T>C) | |
| X | g.155022504A>T | CA414920642 | F8 | c.49T>A (p.Cys17Ser) c.38+4276T>A (n.38+4276T>A) c.39-8T>A (n.39-8T>A) | |
| X | g.155022505G>A | CA519388845 | F8 | c.48C>T (p.Phe16=) c.38+4275C>T (n.38+4275C>T) c.39-9C>T (n.39-9C>T) | |
| X | g.155022505G>C | CA414920644 | F8 | c.48C>G (p.Phe16Leu) c.38+4275C>G (n.38+4275C>G) c.39-9C>G (n.39-9C>G) | |
| X | g.155022505G>T | CA414920643 | F8 | c.48C>A (p.Phe16Leu) c.38+4275C>A (n.38+4275C>A) c.39-9C>A (n.39-9C>A) | |
| X | g.155022506A>C | CA414920645 | F8 | c.47T>G (p.Phe16Cys) c.38+4274T>G (n.38+4274T>G) c.39-10T>G (n.39-10T>G) | |
| X | g.155022506A>G | CA414920647 | F8 | c.47T>C (p.Phe16Ser) c.38+4274T>C (n.38+4274T>C) c.39-10T>C (n.39-10T>C) | |
| X | g.155022506A>T | CA414920646 | F8 | c.47T>A (p.Phe16Tyr) c.38+4274T>A (n.38+4274T>A) c.39-10T>A (n.39-10T>A) | |
| X | g.155022507A>C | CA414920648 | F8 | c.46T>G (p.Phe16Val) c.38+4273T>G (n.38+4273T>G) c.39-11T>G (n.39-11T>G) | |
| X | g.155022507A>G | CA414920650 | F8 | c.46T>C (p.Phe16Leu) c.38+4273T>C (n.38+4273T>C) c.39-11T>C (n.39-11T>C) | |
| X | g.155022507A>T | CA414920649 | F8 | c.46T>A (p.Phe16Ile) c.38+4273T>A (n.38+4273T>A) c.39-11T>A (n.39-11T>A) | |
| X | g.155022508T>A | CA519388858 | F8 | c.45A>T (p.Arg15=) c.38+4272A>T (n.38+4272A>T) c.39-12A>T (n.39-12A>T) | gnomAD v4 |
| X | g.155022508T>C | CA519388860 | F8 | c.45A>G (p.Arg15=) c.38+4272A>G (n.38+4272A>G) c.39-12A>G (n.39-12A>G) | |
| X | g.155022508T>G | CA519388862 | F8 | c.45A>C (p.Arg15=) c.38+4272A>C (n.38+4272A>C) c.39-12A>C (n.39-12A>C) | |
| X | g.155022509C>A | CA414920651 | F8 | c.44G>T (p.Arg15Leu) c.38+4271G>T (n.38+4271G>T) c.39-13G>T (n.39-13G>T) | |
| X | g.155022509C= | CA2466865439 | F8 | c.44G= (p.Arg15=) c.38+4271G= (n.38+4271G=) c.39-13G= (n.39-13G=) | |
| X | g.155022509C>G | CA414920652 | F8 | c.44G>C (p.Arg15Pro) c.38+4271G>C (n.38+4271G>C) c.39-13G>C (n.39-13G>C) | |
| X | g.155022509C>T | CA10568650 | F8 | c.44G>A (p.Arg15Gln) c.38+4271G>A (n.38+4271G>A) c.39-13G>A (n.39-13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.155022510G>A | CA255044 | F8 | c.43C>T (p.Arg15Ter) c.38+4270C>T (n.38+4270C>T) c.39-14C>T (n.39-14C>T) | ClinVar dbSNP COSMIC COSMIC |
| X | g.155022510G>C | CA414920653 | F8 | c.43C>G (p.Arg15Gly) c.38+4270C>G (n.38+4270C>G) c.39-14C>G (n.39-14C>G) | |
| X | g.155022510G= | CA2466865440 | F8 | c.43C= (p.Arg15=) c.38+4270C= (n.38+4270C=) c.39-14C= (n.39-14C=) | |
| X | g.155022510G>T | CA519388869 | F8 | c.43C>A (p.Arg15=) c.38+4270C>A (n.38+4270C>A) c.39-14C>A (n.39-14C>A) | |
| X | g.155022511C>A | CA414920654 | F8 | c.42G>T (p.Leu14Phe) c.38+4269G>T (n.38+4269G>T) c.39-15G>T (n.39-15G>T) | |
| X | g.155022511C>G | CA414920655 | F8 | c.42G>C (p.Leu14Phe) c.38+4269G>C (n.38+4269G>C) c.39-15G>C (n.39-15G>C) | |
| X | g.155022511C>T | CA519388875 | F8 | c.42G>A (p.Leu14=) c.38+4269G>A (n.38+4269G>A) c.39-15G>A (n.39-15G>A) | gnomAD v4 |
| X | g.155022512A>C | CA414920656 | F8 | c.41T>G (p.Leu14Trp) c.38+4268T>G (n.38+4268T>G) c.39-16T>G (n.39-16T>G) | |
| X | g.155022512A>G | CA414920657 | F8 | c.41T>C (p.Leu14Ser) c.38+4268T>C (n.38+4268T>C) c.39-16T>C (n.39-16T>C) | |
| X | g.155022512A>T | CA414920658 | F8 | c.41T>A (p.Leu14Ter) c.38+4268T>A (n.38+4268T>A) c.39-16T>A (n.39-16T>A) | |
| X | g.155022515del | CA2695238542 | F8 | c.41del (p.Leu14CysfsTer?) c.38+4268del (n.38+4268del) c.39-16del (n.39-16del) | |
| X | g.155022513A>C | CA414920659 | F8 | c.40T>G (p.Leu14Val) c.38+4267T>G (n.38+4267T>G) c.39-17T>G (n.39-17T>G) | |
| X | g.155022513A>G | CA519388881 | F8 | c.40T>C (p.Leu14=) c.38+4267T>C (n.38+4267T>C) c.39-17T>C (n.39-17T>C) | |
| X | g.155022513A>T | CA414920660 | F8 | c.40T>A (p.Leu14Met) c.38+4267T>A (n.38+4267T>A) c.39-17T>A (n.39-17T>A) | |
| X | g.155022514A>C | CA519388889 | F8 | c.39T>G (p.Leu13=) c.38+4266T>G (n.38+4266T>G) c.39-18T>G (n.39-18T>G) | |
| X | g.155022514A>G | CA519388891 | F8 | c.39T>C (p.Leu13=) c.38+4266T>C (n.38+4266T>C) c.39-18T>C (n.39-18T>C) | |
| X | g.155022514A>T | CA519388887 | F8 | c.39T>A (p.Leu13=) c.38+4266T>A (n.38+4266T>A) c.39-18T>A (n.39-18T>A) | |
| X | g.155022515A= | CA2466865441 | F8 | c.38T= (p.Leu13=) c.38+4265T= (n.38+4265T=) c.39-19T= (n.39-19T=) | |
| X | g.155022515A>C | CA414920661 | F8 | c.38T>G (p.Leu13Arg) c.38+4265T>G (n.38+4265T>G) c.39-19T>G (n.39-19T>G) | |
| X | g.155022515A>G | CA414920662 | F8 | c.38T>C (p.Leu13Pro) c.38+4265T>C (n.38+4265T>C) c.39-19T>C (n.39-19T>C) | dbSNP |
| X | g.155022515A>T | CA414920663 | F8 | c.38T>A (p.Leu13His) c.38+4265T>A (n.38+4265T>A) c.39-19T>A (n.39-19T>A) | |
| X | g.155022516G>A | CA414920664 | F8 | c.37C>T (p.Leu13Phe) c.38+4264C>T (n.38+4264C>T) c.39-20C>T (n.39-20C>T) | ClinVar gnomAD v4 COSMIC COSMIC |
| X | g.155022516G>C | CA414920665 | F8 | c.37C>G (p.Leu13Val) c.38+4264C>G (n.38+4264C>G) c.39-20C>G (n.39-20C>G) | |
| X | g.155022516G>T | CA414920666 | F8 | c.37C>A (p.Leu13Ile) c.38+4264C>A (n.38+4264C>A) c.39-20C>A (n.39-20C>A) | |
| X | g.155022516_155022517del | CA2824302842 | F8 | c.36_37del (p.Leu13PhefsTer6) c.38+4263_38+4264del (n.38+4263_38+4264del) c.39-21_39-20del (n.39-21_39-20del) | |
| X | g.155022517G>A | CA10568651 | F8 | c.36C>T (p.Cys12=) c.38+4263C>T (n.38+4263C>T) c.39-21C>T (n.39-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.155022517G>C | CA414920667 | F8 | c.36C>G (p.Cys12Trp) c.38+4263C>G (n.38+4263C>G) c.39-21C>G (n.39-21C>G) | |
| X | g.155022517G= | CA2466865442 | F8 | c.36C= (p.Cys12=) c.38+4263C= (n.38+4263C=) c.39-21C= (n.39-21C=) | |
| X | g.155022517G>T | CA414920668 | F8 | c.36C>A (p.Cys12Ter) c.38+4263C>A (n.38+4263C>A) c.39-21C>A (n.39-21C>A) | |
| X | g.155022518C>A | CA414920670 | F8 | c.35G>T (p.Cys12Phe) c.38+4262G>T (n.38+4262G>T) c.39-22G>T (n.39-22G>T) | |
| X | g.155022518C= | CA2466865443 | F8 | c.35G= (p.Cys12=) c.38+4262G= (n.38+4262G=) c.39-22G= (n.39-22G=) | |
| X | g.155022518C>G | CA414920671 | F8 | c.35G>C (p.Cys12Ser) c.38+4262G>C (n.38+4262G>C) c.39-22G>C (n.39-22G>C) | |
| X | g.155022518C>T | CA414920669 | F8 | c.35G>A (p.Cys12Tyr) c.38+4262G>A (n.38+4262G>A) c.39-22G>A (n.39-22G>A) | dbSNP gnomAD v4 |
| X | g.155022519A= | CA2466865444 | F8 | c.34T= (p.Cys12=) c.38+4261T= (n.38+4261T=) c.39-23T= (n.39-23T=) | |
| X | g.155022519A>C | CA414920672 | F8 | c.34T>G (p.Cys12Gly) c.38+4261T>G (n.38+4261T>G) c.39-23T>G (n.39-23T>G) | |
| X | g.155022519A>G | CA414920673 | F8 | c.34T>C (p.Cys12Arg) c.38+4261T>C (n.38+4261T>C) c.39-23T>C (n.39-23T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.155022519A>T | CA414920674 | F8 | c.34T>A (p.Cys12Ser) c.38+4261T>A (n.38+4261T>A) c.39-23T>A (n.39-23T>A) | |
| X | g.155022520C>A | CA519388910 | F8 | c.33G>T (p.Leu11=) c.38+4260G>T (n.38+4260G>T) c.39-24G>T (n.39-24G>T) | |
| X | g.155022520C>G | CA519388913 | F8 | c.33G>C (p.Leu11=) c.38+4260G>C (n.38+4260G>C) c.39-24G>C (n.39-24G>C) | |
| X | g.155022520C>T | CA519388916 | F8 | c.33G>A (p.Leu11=) c.38+4260G>A (n.38+4260G>A) c.39-24G>A (n.39-24G>A) | |
| X | g.155022521A>C | CA414920675 | F8 | c.32T>G (p.Leu11Arg) c.38+4259T>G (n.38+4259T>G) c.39-25T>G (n.39-25T>G) | |
| X | g.155022521A>G | CA414920676 | F8 | c.32T>C (p.Leu11Pro) c.38+4259T>C (n.38+4259T>C) c.39-25T>C (n.39-25T>C) | |
| X | g.155022521A>T | CA414920677 | F8 | c.32T>A (p.Leu11Gln) c.38+4259T>A (n.38+4259T>A) c.39-25T>A (n.39-25T>A) | |
| X | g.155022522G>A | CA519388921 | F8 | c.31C>T (p.Leu11=) c.38+4258C>T (n.38+4258C>T) c.39-26C>T (n.39-26C>T) | |
| X | g.155022522G>C | CA414920678 | F8 | c.31C>G (p.Leu11Val) c.38+4258C>G (n.38+4258C>G) c.39-26C>G (n.39-26C>G) | |
| X | g.155022522G>T | CA414920679 | F8 | c.31C>A (p.Leu11Met) c.38+4258C>A (n.38+4258C>A) c.39-26C>A (n.39-26C>A) | |
| X | g.155022523A>C | CA414920680 | F8 | c.30T>G (p.Phe10Leu) c.38+4257T>G (n.38+4257T>G) c.39-27T>G (n.39-27T>G) | |
| X | g.155022523A>G | CA519388925 | F8 | c.30T>C (p.Phe10=) c.38+4257T>C (n.38+4257T>C) c.39-27T>C (n.39-27T>C) | |
| X | g.155022523A>T | CA414920681 | F8 | c.30T>A (p.Phe10Leu) c.38+4257T>A (n.38+4257T>A) c.39-27T>A (n.39-27T>A) | |
| X | g.155022523_155022526delinsAAAG | CA2466865445 | F8 | c.27_30delinsCTTT (p.Phe9=) c.38+4254_38+4257delinsCTTT (n.38+4254_38+4257delinsCTTT) c.39-30_39-27delinsCTTT (n.39-30_39-27delinsCTTT) | |
| X | g.155022524A>C | CA414920684 | F8 | c.29T>G (p.Phe10Cys) c.38+4256T>G (n.38+4256T>G) c.39-28T>G (n.39-28T>G) | |
| X | g.155022524A>G | CA414920683 | F8 | c.29T>C (p.Phe10Ser) c.38+4256T>C (n.38+4256T>C) c.39-28T>C (n.39-28T>C) | |
| X | g.155022524A>T | CA414920682 | F8 | c.29T>A (p.Phe10Tyr) c.38+4256T>A (n.38+4256T>A) c.39-28T>A (n.39-28T>A) | |
| X | g.155022527_155022529del | CA873367490 | F8 | c.27_29del (p.Phe10del) c.38+4254_38+4256del (n.38+4254_38+4256del) c.39-30_39-28del (n.39-30_39-28del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.155022525A= | CA2466865446 | F8 | c.28T= (p.Phe10=) c.38+4255T= (n.38+4255T=) c.39-29T= (n.39-29T=) | |
| X | g.155022525A>C | CA414920685 | F8 | c.28T>G (p.Phe10Val) c.38+4255T>G (n.38+4255T>G) c.39-29T>G (n.39-29T>G) | |
| X | g.155022525A>G | CA10568652 | F8 | c.28T>C (p.Phe10Leu) c.38+4255T>C (n.38+4255T>C) c.39-29T>C (n.39-29T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.155022525A>T | CA414920686 | F8 | c.28T>A (p.Phe10Ile) c.38+4255T>A (n.38+4255T>A) c.39-29T>A (n.39-29T>A) | |
| X | g.155022526G>A | CA519388940 | F8 | c.27C>T (p.Phe9=) c.38+4254C>T (n.38+4254C>T) c.39-30C>T (n.39-30C>T) | |
| X | g.155022526G>C | CA414920687 | F8 | c.27C>G (p.Phe9Leu) c.38+4254C>G (n.38+4254C>G) c.39-30C>G (n.39-30C>G) | |
| X | g.155022526G>T | CA414920688 | F8 | c.27C>A (p.Phe9Leu) c.38+4254C>A (n.38+4254C>A) c.39-30C>A (n.39-30C>A) | |
| X | g.155022527A= | CA2466865447 | F8 | c.26T= (p.Phe9=) c.38+4253T= (n.38+4253T=) c.39-31T= (n.39-31T=) | |
| X | g.155022527A>C | CA10568653 | F8 | c.26T>G (p.Phe9Cys) c.38+4253T>G (n.38+4253T>G) c.39-31T>G (n.39-31T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.155022527A>G | CA414920689 | F8 | c.26T>C (p.Phe9Ser) c.38+4253T>C (n.38+4253T>C) c.39-31T>C (n.39-31T>C) | |
| X | g.155022527A>T | CA414920690 | F8 | c.26T>A (p.Phe9Tyr) c.38+4253T>A (n.38+4253T>A) c.39-31T>A (n.39-31T>A) | |
| X | g.155022528A>C | CA414920691 | F8 | c.25T>G (p.Phe9Val) c.38+4252T>G (n.38+4252T>G) c.39-32T>G (n.39-32T>G) | |
| X | g.155022528A>G | CA414920692 | F8 | c.25T>C (p.Phe9Leu) c.38+4252T>C (n.38+4252T>C) c.39-32T>C (n.39-32T>C) | gnomAD v4 |
| X | g.155022528A>T | CA414920693 | F8 | c.25T>A (p.Phe9Ile) c.38+4252T>A (n.38+4252T>A) c.39-32T>A (n.39-32T>A) | |
| X | g.155022529G>A | CA519388952 | F8 | c.24C>T (p.Cys8=) c.38+4251C>T (n.38+4251C>T) c.39-33C>T (n.39-33C>T) | |
| X | g.155022529G>C | CA414920694 | F8 | c.24C>G (p.Cys8Trp) c.38+4251C>G (n.38+4251C>G) c.39-33C>G (n.39-33C>G) | |
| X | g.155022529G>T | CA414920695 | F8 | c.24C>A (p.Cys8Ter) c.38+4251C>A (n.38+4251C>A) c.39-33C>A (n.39-33C>A) | |
| X | g.155022530C>A | CA414920697 | F8 | c.23G>T (p.Cys8Phe) c.38+4250G>T (n.38+4250G>T) c.39-34G>T (n.39-34G>T) | |
| X | g.155022530C>G | CA414920698 | F8 | c.23G>C (p.Cys8Ser) c.38+4250G>C (n.38+4250G>C) c.39-34G>C (n.39-34G>C) | |
| X | g.155022530C>T | CA414920696 | F8 | c.23G>A (p.Cys8Tyr) c.38+4250G>A (n.38+4250G>A) c.39-34G>A (n.39-34G>A) | |
| X | g.155022531A>C | CA414920701 | F8 | c.22T>G (p.Cys8Gly) c.38+4249T>G (n.38+4249T>G) c.39-35T>G (n.39-35T>G) | |
| X | g.155022531A>G | CA414920699 | F8 | c.22T>C (p.Cys8Arg) c.38+4249T>C (n.38+4249T>C) c.39-35T>C (n.39-35T>C) | |
| X | g.155022531A>T | CA414920700 | F8 | c.22T>A (p.Cys8Ser) c.38+4249T>A (n.38+4249T>A) c.39-35T>A (n.39-35T>A) | |
| X | g.155022532G>A | CA519388967 | F8 | c.21C>T (p.Thr7=) c.38+4248C>T (n.38+4248C>T) c.39-36C>T (n.39-36C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.155022532G>C | CA519388968 | F8 | c.21C>G (p.Thr7=) c.38+4248C>G (n.38+4248C>G) c.39-36C>G (n.39-36C>G) | |
| X | g.155022532G= | CA2466865448 | F8 | c.21C= (p.Thr7=) c.38+4248C= (n.38+4248C=) c.39-36C= (n.39-36C=) | |
| X | g.155022532G>T | CA519388971 | F8 | c.21C>A (p.Thr7=) c.38+4248C>A (n.38+4248C>A) c.39-36C>A (n.39-36C>A) | |
| X | g.155022533G>A | CA414920702 | F8 | c.20C>T (p.Thr7Ile) c.38+4247C>T (n.38+4247C>T) c.39-37C>T (n.39-37C>T) | |
| X | g.155022533G>C | CA414920703 | F8 | c.20C>G (p.Thr7Ser) c.38+4247C>G (n.38+4247C>G) c.39-37C>G (n.39-37C>G) | |
| X | g.155022533G>T | CA414920704 | F8 | c.20C>A (p.Thr7Asn) c.38+4247C>A (n.38+4247C>A) c.39-37C>A (n.39-37C>A) |