Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.694814_694815delinsCT | CA2317263538 | PRSS57 | c.232_233delinsAG (p.Arg78=) c.235_236delinsAG (p.Arg79=) | |
19 | g.694815del | CA9022250 | PRSS57 | c.232del (p.Arg78GlufsTer15) c.235del (p.Arg79GlufsTer15) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694815T>A | CA402894333 | PRSS57 | c.232A>T (p.Arg78Ter) c.235A>T (p.Arg79Ter) | |
19 | g.694815T>C | CA402894335 | PRSS57 | c.232A>G (p.Arg78Gly) c.235A>G (p.Arg79Gly) | gnomAD v4 |
19 | g.694815T>G | CA504688173 | PRSS57 | c.232A>C (p.Arg78=) c.235A>C (p.Arg79=) | |
19 | g.694816del | CA402894338 | PRSS57 | c.231del (p.His77GlnfsTer16) c.234del (p.His78GlnfsTer16) | |
19 | g.694816G>A | CA504688174 | PRSS57 | c.231C>T (p.His77=) c.234C>T (p.His78=) | dbSNP |
19 | g.694816G>C | CA402894336 | PRSS57 | c.231C>G (p.His77Gln) c.234C>G (p.His78Gln) | |
19 | g.694816G= | CA2317263540 | PRSS57 | c.231C= (p.His77=) c.234C= (p.His78=) | |
19 | g.694816G>T | CA402894337 | PRSS57 | c.231C>A (p.His77Gln) c.234C>A (p.His78Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694817T>A | CA402894340 | PRSS57 | c.230A>T (p.His77Leu) c.233A>T (p.His78Leu) | |
19 | g.694817T>C | CA402894341 | PRSS57 | c.230A>G (p.His77Arg) c.233A>G (p.His78Arg) | |
19 | g.694817T>G | CA402894343 | PRSS57 | c.230A>C (p.His77Pro) c.233A>C (p.His78Pro) | |
19 | g.694819_694822dup | CA2587779410 | PRSS57 | c.227_230dup (p.His77GlnfsTer?) c.230_233dup (p.His78GlnfsTer?) | gnomAD v4 |
19 | g.694818G>A | CA402894346 | PRSS57 | c.229C>T (p.His77Tyr) c.232C>T (p.His78Tyr) | |
19 | g.694818G>C | CA402894347 | PRSS57 | c.229C>G (p.His77Asp) c.232C>G (p.His78Asp) | |
19 | g.694818G>T | CA402894349 | PRSS57 | c.229C>A (p.His77Asn) c.232C>A (p.His78Asn) | |
19 | g.694819G>A | CA9022251 | PRSS57 | c.228C>T (p.Ser76=) c.231C>T (p.Ser77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694819G>C | CA402894351 | PRSS57 | c.228C>G (p.Ser76Arg) c.231C>G (p.Ser77Arg) | |
19 | g.694819G= | CA2317263541 | PRSS57 | c.228C= (p.Ser76=) c.231C= (p.Ser77=) | |
19 | g.694819G>T | CA402894354 | PRSS57 | c.228C>A (p.Ser76Arg) c.231C>A (p.Ser77Arg) | |
19 | g.694820C>A | CA402894359 | PRSS57 | c.227G>T (p.Ser76Ile) c.230G>T (p.Ser77Ile) | |
19 | g.694820C>G | CA402894358 | PRSS57 | c.227G>C (p.Ser76Thr) c.230G>C (p.Ser77Thr) | |
19 | g.694820C>T | CA402894356 | PRSS57 | c.227G>A (p.Ser76Asn) c.230G>A (p.Ser77Asn) | COSMIC |
19 | g.694821T>A | CA402894360 | PRSS57 | c.226A>T (p.Ser76Cys) c.229A>T (p.Ser77Cys) | |
19 | g.694821T>C | CA402894362 | PRSS57 | c.226A>G (p.Ser76Gly) c.229A>G (p.Ser77Gly) | gnomAD v4 |
19 | g.694821T>G | CA402894364 | PRSS57 | c.226A>C (p.Ser76Arg) c.229A>C (p.Ser77Arg) | |
19 | g.694822G>A | CA303953429 | PRSS57 | c.225C>T (p.Phe75=) c.228C>T (p.Phe76=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.694822G>C | CA402894366 | PRSS57 | c.225C>G (p.Phe75Leu) c.228C>G (p.Phe76Leu) | |
19 | g.694822G= | CA2317263542 | PRSS57 | c.225C= (p.Phe75=) c.228C= (p.Phe76=) | |
19 | g.694822G>T | CA402894367 | PRSS57 | c.225C>A (p.Phe75Leu) c.228C>A (p.Phe76Leu) | |
19 | g.694823A>C | CA402894369 | PRSS57 | c.224T>G (p.Phe75Cys) c.227T>G (p.Phe76Cys) | |
19 | g.694823A>G | CA402894370 | PRSS57 | c.224T>C (p.Phe75Ser) c.227T>C (p.Phe76Ser) | |
19 | g.694823A>T | CA402894371 | PRSS57 | c.224T>A (p.Phe75Tyr) c.227T>A (p.Phe76Tyr) | |
19 | g.694824A= | CA2317263543 | PRSS57 | c.223T= (p.Phe75=) c.226T= (p.Phe76=) | |
19 | g.694824A>C | CA402894374 | PRSS57 | c.223T>G (p.Phe75Val) c.226T>G (p.Phe76Val) | |
19 | g.694824A>G | CA402894376 | PRSS57 | c.223T>C (p.Phe75Leu) c.226T>C (p.Phe76Leu) | dbSNP |
19 | g.694824A>T | CA402894378 | PRSS57 | c.223T>A (p.Phe75Ile) c.226T>A (p.Phe76Ile) | |
19 | g.694825G>A | CA9022252 | PRSS57 | c.222C>T (p.Cys74=) c.225C>T (p.Cys75=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.694825G>C | CA402894380 | PRSS57 | c.222C>G (p.Cys74Trp) c.225C>G (p.Cys75Trp) | |
19 | g.694825G= | CA2317263544 | PRSS57 | c.222C= (p.Cys74=) c.225C= (p.Cys75=) | |
19 | g.694825G>T | CA402894382 | PRSS57 | c.222C>A (p.Cys74Ter) c.225C>A (p.Cys75Ter) | |
19 | g.694826C>A | CA402894389 | PRSS57 | c.221G>T (p.Cys74Phe) c.224G>T (p.Cys75Phe) | |
19 | g.694826C= | CA2317263545 | PRSS57 | c.221G= (p.Cys74=) c.224G= (p.Cys75=) | |
19 | g.694826C>G | CA402894390 | PRSS57 | c.221G>C (p.Cys74Ser) c.224G>C (p.Cys75Ser) | |
19 | g.694826C>T | CA402894385 | PRSS57 | c.221G>A (p.Cys74Tyr) c.224G>A (p.Cys75Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694827A>C | CA402894392 | PRSS57 | c.220T>G (p.Cys74Gly) c.223T>G (p.Cys75Gly) | |
19 | g.694827A>G | CA402894394 | PRSS57 | c.220T>C (p.Cys74Arg) c.223T>C (p.Cys75Arg) | gnomAD v4 |
19 | g.694827A>T | CA402894396 | PRSS57 | c.220T>A (p.Cys74Ser) c.223T>A (p.Cys75Ser) | gnomAD v4 |
19 | g.694828G>A | CA303953435 | PRSS57 | c.219C>T (p.His73=) c.222C>T (p.His74=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694828G>C | CA402894399 | PRSS57 | c.219C>G (p.His73Gln) c.222C>G (p.His74Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694828G= | CA2317263546 | PRSS57 | c.219C= (p.His73=) c.222C= (p.His74=) | |
19 | g.694828G>T | CA402894401 | PRSS57 | c.219C>A (p.His73Gln) c.222C>A (p.His74Gln) | |
19 | g.694829T>A | CA402894403 | PRSS57 | c.218A>T (p.His73Leu) c.221A>T (p.His74Leu) | |
19 | g.694829T>C | CA402894405 | PRSS57 | c.218A>G (p.His73Arg) c.221A>G (p.His74Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694829T>G | CA402894407 | PRSS57 | c.218A>C (p.His73Pro) c.221A>C (p.His74Pro) | |
19 | g.694829T= | CA2317263547 | PRSS57 | c.218A= (p.His73=) c.221A= (p.His74=) | |
19 | g.694830G>A | CA402894410 | PRSS57 | c.217C>T (p.His73Tyr) c.220C>T (p.His74Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694830G>C | CA402894411 | PRSS57 | c.217C>G (p.His73Asp) c.220C>G (p.His74Asp) | gnomAD v4 |
19 | g.694830G= | CA2317263548 | PRSS57 | c.217C= (p.His73=) c.220C= (p.His74=) | |
19 | g.694830G>T | CA402894413 | PRSS57 | c.217C>A (p.His73Asn) c.220C>A (p.His74Asn) | |
19 | g.694831G>A | CA504688183 | PRSS57 | c.216C>T (p.Ala72=) c.219C>T (p.Ala73=) | |
19 | g.694831G>C | CA504688182 | PRSS57 | c.216C>G (p.Ala72=) c.219C>G (p.Ala73=) | |
19 | g.694831G>T | CA504688181 | PRSS57 | c.216C>A (p.Ala72=) c.219C>A (p.Ala73=) | COSMIC |
19 | g.694832G>A | CA9022253 | PRSS57 | c.215C>T (p.Ala72Val) c.218C>T (p.Ala73Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.694832G>C | CA402894417 | PRSS57 | c.215C>G (p.Ala72Gly) c.218C>G (p.Ala73Gly) | |
19 | g.694832G= | CA2317263549 | PRSS57 | c.215C= (p.Ala72=) c.218C= (p.Ala73=) | |
19 | g.694832G>T | CA402894415 | PRSS57 | c.215C>A (p.Ala72Asp) c.218C>A (p.Ala73Asp) | |
19 | g.694833C>A | CA402894420 | PRSS57 | c.214G>T (p.Ala72Ser) c.217G>T (p.Ala73Ser) | gnomAD v4 |
19 | g.694833C= | CA2317263550 | PRSS57 | c.214G= (p.Ala72=) c.217G= (p.Ala73=) | |
19 | g.694833C>G | CA402894423 | PRSS57 | c.214G>C (p.Ala72Pro) c.217G>C (p.Ala73Pro) | |
19 | g.694833C>T | CA9022254 | PRSS57 | c.214G>A (p.Ala72Thr) c.217G>A (p.Ala73Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694834G>A | CA504688188 | PRSS57 | c.213C>T (p.Ala71=) c.216C>T (p.Ala72=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694834G>C | CA504688187 | PRSS57 | c.213C>G (p.Ala71=) c.216C>G (p.Ala72=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694834G= | CA2317263551 | PRSS57 | c.213C= (p.Ala71=) c.216C= (p.Ala72=) | |
19 | g.694834G>T | CA504688186 | PRSS57 | c.213C>A (p.Ala71=) c.216C>A (p.Ala72=) | gnomAD v4 |
19 | g.694835G>A | CA402894426 | PRSS57 | c.212C>T (p.Ala71Val) c.215C>T (p.Ala72Val) | |
19 | g.694835G>C | CA402894428 | PRSS57 | c.212C>G (p.Ala71Gly) c.215C>G (p.Ala72Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694835G= | CA2317263552 | PRSS57 | c.212C= (p.Ala71=) c.215C= (p.Ala72=) | |
19 | g.694835G>T | CA402894429 | PRSS57 | c.212C>A (p.Ala71Asp) c.215C>A (p.Ala72Asp) | gnomAD v4 COSMIC |
19 | g.694836C>A | CA402894432 | PRSS57 | c.211G>T (p.Ala71Ser) c.214G>T (p.Ala72Ser) | gnomAD v4 |
19 | g.694836C>G | CA402894433 | PRSS57 | c.211G>C (p.Ala71Pro) c.214G>C (p.Ala72Pro) | |
19 | g.694836C>T | CA402894435 | PRSS57 | c.211G>A (p.Ala71Thr) c.214G>A (p.Ala72Thr) | |
19 | g.694837C>A | CA504688190 | PRSS57 | c.210G>T (p.Ser70=) c.213G>T (p.Ser71=) | gnomAD v4 |
19 | g.694837C= | CA2317263553 | PRSS57 | c.210G= (p.Ser70=) c.213G= (p.Ser71=) | |
19 | g.694837C>G | CA9022255 | PRSS57 | c.210G>C (p.Ser70=) c.213G>C (p.Ser71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694837C>T | CA504688191 | PRSS57 | c.210G>A (p.Ser70=) c.213G>A (p.Ser71=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694838G>A | CA9022256 | PRSS57 | c.209C>T (p.Ser70Leu) c.212C>T (p.Ser71Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694838G>C | CA402894438 | PRSS57 | c.209C>G (p.Ser70Trp) c.212C>G (p.Ser71Trp) | |
19 | g.694838G= | CA2317263554 | PRSS57 | c.209C= (p.Ser70=) c.212C= (p.Ser71=) | |
19 | g.694838G>T | CA402894440 | PRSS57 | c.209C>A (p.Ser70Ter) c.212C>A (p.Ser71Ter) | |
19 | g.694839A>C | CA402894447 | PRSS57 | c.208T>G (p.Ser70Ala) c.211T>G (p.Ser71Ala) | |
19 | g.694839A>G | CA402894448 | PRSS57 | c.208T>C (p.Ser70Pro) c.211T>C (p.Ser71Pro) | |
19 | g.694839A>T | CA402894446 | PRSS57 | c.208T>A (p.Ser70Thr) c.211T>A (p.Ser71Thr) | |
19 | g.694840G>A | CA504688193 | PRSS57 | c.207C>T (p.Val69=) c.210C>T (p.Val70=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694840G>C | CA504688194 | PRSS57 | c.207C>G (p.Val69=) c.210C>G (p.Val70=) | |
19 | g.694840G= | CA2317263555 | PRSS57 | c.207C= (p.Val69=) c.210C= (p.Val70=) | |
19 | g.694840G>T | CA504688195 | PRSS57 | c.207C>A (p.Val69=) c.210C>A (p.Val70=) | gnomAD v4 |
19 | g.694841A= | CA2317263556 | PRSS57 | c.206T= (p.Val69=) c.209T= (p.Val70=) | |
19 | g.694841A>C | CA402894452 | PRSS57 | c.206T>G (p.Val69Gly) c.209T>G (p.Val70Gly) | |
19 | g.694841A>G | CA402894450 | PRSS57 | c.206T>C (p.Val69Ala) c.209T>C (p.Val70Ala) | dbSNP |
19 | g.694841A>T | CA402894454 | PRSS57 | c.206T>A (p.Val69Asp) c.209T>A (p.Val70Asp) | gnomAD v4 |
19 | g.694842C>A | CA402894456 | PRSS57 | c.205G>T (p.Val69Phe) c.208G>T (p.Val70Phe) | dbSNP gnomAD v2 |
19 | g.694842C= | CA2317263557 | PRSS57 | c.205G= (p.Val69=) c.208G= (p.Val70=) | |
19 | g.694842C>G | CA402894458 | PRSS57 | c.205G>C (p.Val69Leu) c.208G>C (p.Val70Leu) | |
19 | g.694842C>T | CA402894460 | PRSS57 | c.205G>A (p.Val69Ile) c.208G>A (p.Val70Ile) | |
19 | g.694843C>A | CA504688196 | PRSS57 | c.204G>T (p.Val68=) c.207G>T (p.Val69=) | |
19 | g.694843C>G | CA504688197 | PRSS57 | c.204G>C (p.Val68=) c.207G>C (p.Val69=) | |
19 | g.694843C>T | CA504688198 | PRSS57 | c.204G>A (p.Val68=) c.207G>A (p.Val69=) | dbSNP |
19 | g.694844A= | CA2317263558 | PRSS57 | c.203T= (p.Val68=) c.206T= (p.Val69=) | |
19 | g.694844A>C | CA402894462 | PRSS57 | c.203T>G (p.Val68Gly) c.206T>G (p.Val69Gly) | dbSNP |
19 | g.694844A>G | CA402894464 | PRSS57 | c.203T>C (p.Val68Ala) c.206T>C (p.Val69Ala) | |
19 | g.694844A>T | CA402894466 | PRSS57 | c.203T>A (p.Val68Glu) c.206T>A (p.Val69Glu) | |
19 | g.694845C>A | CA402894469 | PRSS57 | c.202G>T (p.Val68Leu) c.205G>T (p.Val69Leu) | |
19 | g.694845C= | CA2317263559 | PRSS57 | c.202G= (p.Val68=) c.205G= (p.Val69=) | |
19 | g.694845C>G | CA402894471 | PRSS57 | c.202G>C (p.Val68Leu) c.205G>C (p.Val69Leu) | |
19 | g.694845C>T | CA303953455 | PRSS57 | c.202G>A (p.Val68Met) c.205G>A (p.Val69Met) | dbSNP gnomAD v4 |
19 | g.694846C>A | CA402894474 | PRSS57 | c.201G>T (p.Trp67Cys) c.204G>T (p.Trp68Cys) | COSMIC |
19 | g.694846C= | CA2317263560 | PRSS57 | c.201G= (p.Trp67=) c.204G= (p.Trp68=) | |
19 | g.694846C>G | CA402894475 | PRSS57 | c.201G>C (p.Trp67Cys) c.204G>C (p.Trp68Cys) | |
19 | g.694846C>T | CA402894476 | PRSS57 | c.201G>A (p.Trp67Ter) c.204G>A (p.Trp68Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694847C>A | CA402894481 | PRSS57 | c.200G>T (p.Trp67Leu) c.203G>T (p.Trp68Leu) | |
19 | g.694847C= | CA2317263561 | PRSS57 | c.200G= (p.Trp67=) c.203G= (p.Trp68=) | |
19 | g.694847C>G | CA402894479 | PRSS57 | c.200G>C (p.Trp67Ser) c.203G>C (p.Trp68Ser) | |
19 | g.694847C>T | CA402894478 | PRSS57 | c.200G>A (p.Trp67Ter) c.203G>A (p.Trp68Ter) | dbSNP gnomAD v2 |
19 | g.694848A>C | CA402894483 | PRSS57 | c.199T>G (p.Trp67Gly) c.202T>G (p.Trp68Gly) | gnomAD v4 |
19 | g.694848A>G | CA402894485 | PRSS57 | c.199T>C (p.Trp67Arg) c.202T>C (p.Trp68Arg) | |
19 | g.694848A>T | CA402894487 | PRSS57 | c.199T>A (p.Trp67Arg) c.202T>A (p.Trp68Arg) | |
19 | g.694849del | CA2587779463 | PRSS57 | c.198del (p.Trp67GlyfsTer26) c.201del (p.Trp68GlyfsTer26) | gnomAD v4 |
19 | g.694849G>A | CA504688204 | PRSS57 | c.198C>T (p.Arg66=) c.201C>T (p.Arg67=) | |
19 | g.694849G>C | CA504688205 | PRSS57 | c.198C>G (p.Arg66=) c.201C>G (p.Arg67=) | |
19 | g.694849G>T | CA504688206 | PRSS57 | c.198C>A (p.Arg66=) c.201C>A (p.Arg67=) | gnomAD v4 |
19 | g.694850C>A | CA9022258 | PRSS57 | c.197G>T (p.Arg66Leu) c.200G>T (p.Arg67Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694850C= | CA2317263562 | PRSS57 | c.197G= (p.Arg66=) c.200G= (p.Arg67=) | |
19 | g.694850C>G | CA402894491 | PRSS57 | c.197G>C (p.Arg66Pro) c.200G>C (p.Arg67Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694850C>T | CA9022257 | PRSS57 | c.197G>A (p.Arg66His) c.200G>A (p.Arg67His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.694851G>A | CA402894492 | PRSS57 | c.196C>T (p.Arg66Cys) c.199C>T (p.Arg67Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694851G>C | CA402894493 | PRSS57 | c.196C>G (p.Arg66Gly) c.199C>G (p.Arg67Gly) | |
19 | g.694851G= | CA2317263563 | PRSS57 | c.196C= (p.Arg66=) c.199C= (p.Arg67=) | |
19 | g.694851G>T | CA402894494 | PRSS57 | c.196C>A (p.Arg66Ser) c.199C>A (p.Arg67Ser) | gnomAD v4 |
19 | g.694852G>A | CA504688212 | PRSS57 | c.195C>T (p.Ala65=) c.198C>T (p.Ala66=) | dbSNP gnomAD v4 |
19 | g.694852G>C | CA504688211 | PRSS57 | c.195C>G (p.Ala65=) c.198C>G (p.Ala66=) | |
19 | g.694852G= | CA2317263564 | PRSS57 | c.195C= (p.Ala65=) c.198C= (p.Ala66=) | |
19 | g.694852G>T | CA504688210 | PRSS57 | c.195C>A (p.Ala65=) c.198C>A (p.Ala66=) | |
19 | g.694853G>A | CA402894495 | PRSS57 | c.194C>T (p.Ala65Val) c.197C>T (p.Ala66Val) | gnomAD v4 |
19 | g.694853G>C | CA402894496 | PRSS57 | c.194C>G (p.Ala65Gly) c.197C>G (p.Ala66Gly) | |
19 | g.694853G>T | CA402894497 | PRSS57 | c.194C>A (p.Ala65Asp) c.197C>A (p.Ala66Asp) | COSMIC |
19 | g.694854C>A | CA402894499 | PRSS57 | c.193G>T (p.Ala65Ser) c.196G>T (p.Ala66Ser) | |
19 | g.694854C= | CA2317263565 | PRSS57 | c.193G= (p.Ala65=) c.196G= (p.Ala66=) | |
19 | g.694854C>G | CA402894498 | PRSS57 | c.193G>C (p.Ala65Pro) c.196G>C (p.Ala66Pro) | |
19 | g.694854C>T | CA9022259 | PRSS57 | c.193G>A (p.Ala65Thr) c.196G>A (p.Ala66Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694855T>A | CA504688216 | PRSS57 | c.192A>T (p.Arg64=) c.195A>T (p.Arg65=) | |
19 | g.694855T>C | CA504688217 | PRSS57 | c.192A>G (p.Arg64=) c.195A>G (p.Arg65=) | |
19 | g.694855T>G | CA9022260 | PRSS57 | c.192A>C (p.Arg64=) c.195A>C (p.Arg65=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694855T= | CA2317263566 | PRSS57 | c.192A= (p.Arg64=) c.195A= (p.Arg65=) | |
19 | g.694856C>A | CA402894500 | PRSS57 | c.191G>T (p.Arg64Leu) c.194G>T (p.Arg65Leu) | dbSNP gnomAD v4 |
19 | g.694856C= | CA2317263567 | PRSS57 | c.191G= (p.Arg64=) c.194G= (p.Arg65=) | |
19 | g.694856C>G | CA402894501 | PRSS57 | c.191G>C (p.Arg64Pro) c.194G>C (p.Arg65Pro) | |
19 | g.694856C>T | CA402894502 | PRSS57 | c.191G>A (p.Arg64Gln) c.194G>A (p.Arg65Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694857G>A | CA9022261 | PRSS57 | c.190C>T (p.Arg64Ter) c.193C>T (p.Arg65Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694857G>C | CA402894503 | PRSS57 | c.190C>G (p.Arg64Gly) c.193C>G (p.Arg65Gly) | |
19 | g.694857G= | CA2317263568 | PRSS57 | c.190C= (p.Arg64=) c.193C= (p.Arg65=) | |
19 | g.694857G>T | CA504688219 | PRSS57 | c.190C>A (p.Arg64=) c.193C>A (p.Arg65=) | gnomAD v4 |
19 | g.694858C>A | CA504688220 | PRSS57 | c.189G>T (p.Leu63=) c.192G>T (p.Leu64=) | gnomAD v4 |
19 | g.694858C>G | CA504688221 | PRSS57 | c.189G>C (p.Leu63=) c.192G>C (p.Leu64=) | |
19 | g.694858C>T | CA504688222 | PRSS57 | c.189G>A (p.Leu63=) c.192G>A (p.Leu64=) | |
19 | g.694859A= | CA2317263569 | PRSS57 | c.188T= (p.Leu63=) c.191T= (p.Leu64=) | |
19 | g.694859A>C | CA402894504 | PRSS57 | c.188T>G (p.Leu63Arg) c.191T>G (p.Leu64Arg) | |
19 | g.694859A>G | CA402894505 | PRSS57 | c.188T>C (p.Leu63Pro) c.191T>C (p.Leu64Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694859A>T | CA402894506 | PRSS57 | c.188T>A (p.Leu63Gln) c.191T>A (p.Leu64Gln) | |
19 | g.694860G>A | CA504688223 | PRSS57 | c.187C>T (p.Leu63=) c.190C>T (p.Leu64=) | |
19 | g.694860G>C | CA402894507 | PRSS57 | c.187C>G (p.Leu63Val) c.190C>G (p.Leu64Val) | |
19 | g.694860G>T | CA402894508 | PRSS57 | c.187C>A (p.Leu63Met) c.190C>A (p.Leu64Met) | gnomAD v4 |
19 | g.694861C>A | CA504688227 | PRSS57 | c.186G>T (p.Leu62=) c.189G>T (p.Leu63=) | |
19 | g.694861C>G | CA504688228 | PRSS57 | c.186G>C (p.Leu62=) c.189G>C (p.Leu63=) | gnomAD v4 |
19 | g.694861C>T | CA504688229 | PRSS57 | c.186G>A (p.Leu62=) c.189G>A (p.Leu63=) | |
19 | g.694862A>C | CA402894509 | PRSS57 | c.185T>G (p.Leu62Arg) c.188T>G (p.Leu63Arg) | |
19 | g.694862A>G | CA402894510 | PRSS57 | c.185T>C (p.Leu62Pro) c.188T>C (p.Leu63Pro) | |
19 | g.694862A>T | CA402894511 | PRSS57 | c.185T>A (p.Leu62Gln) c.188T>A (p.Leu63Gln) | |
19 | g.694863G>A | CA504688230 | PRSS57 | c.184C>T (p.Leu62=) c.187C>T (p.Leu63=) | |
19 | g.694863G>C | CA402894512 | PRSS57 | c.184C>G (p.Leu62Val) c.187C>G (p.Leu63Val) | gnomAD v4 |
19 | g.694863G>T | CA402894513 | PRSS57 | c.184C>A (p.Leu62Met) c.187C>A (p.Leu63Met) | |
19 | g.694864G>A | CA504688234 | PRSS57 | c.183C>T (p.Phe61=) c.186C>T (p.Phe62=) | |
19 | g.694864G>C | CA402894514 | PRSS57 | c.183C>G (p.Phe61Leu) c.186C>G (p.Phe62Leu) | |
19 | g.694864G= | CA2317263570 | PRSS57 | c.183C= (p.Phe61=) c.186C= (p.Phe62=) | |
19 | g.694864G>T | CA402894515 | PRSS57 | c.183C>A (p.Phe61Leu) c.186C>A (p.Phe62Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694865A>C | CA402894516 | PRSS57 | c.182T>G (p.Phe61Cys) c.185T>G (p.Phe62Cys) | |
19 | g.694865A>G | CA402894517 | PRSS57 | c.182T>C (p.Phe61Ser) c.185T>C (p.Phe62Ser) | |
19 | g.694865A>T | CA402894518 | PRSS57 | c.182T>A (p.Phe61Tyr) c.185T>A (p.Phe62Tyr) | |
19 | g.694866A= | CA2317263571 | PRSS57 | c.181T= (p.Phe61=) c.184T= (p.Phe62=) | |
19 | g.694866A>C | CA402894519 | PRSS57 | c.181T>G (p.Phe61Val) c.184T>G (p.Phe62Val) | ClinVar |
19 | g.694866A>G | CA9022262 | PRSS57 | c.181T>C (p.Phe61Leu) c.184T>C (p.Phe62Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694866A>T | CA402894520 | PRSS57 | c.181T>A (p.Phe61Ile) c.184T>A (p.Phe62Ile) | |
19 | g.694867G>A | CA504688236 | PRSS57 | c.180C>T (p.Gly60=) c.183C>T (p.Gly61=) | |
19 | g.694867G>C | CA504688239 | PRSS57 | c.180C>G (p.Gly60=) c.183C>G (p.Gly61=) | |
19 | g.694867G>T | CA504688240 | PRSS57 | c.180C>A (p.Gly60=) c.183C>A (p.Gly61=) | |
19 | g.694868C>A | CA402894521 | PRSS57 | c.179G>T (p.Gly60Val) c.182G>T (p.Gly61Val) | gnomAD v4 |
19 | g.694868C= | CA2317263572 | PRSS57 | c.179G= (p.Gly60=) c.182G= (p.Gly61=) | |
19 | g.694868C>G | CA402894522 | PRSS57 | c.179G>C (p.Gly60Ala) c.182G>C (p.Gly61Ala) | |
19 | g.694868C>T | CA402894523 | PRSS57 | c.179G>A (p.Gly60Asp) c.182G>A (p.Gly61Asp) | dbSNP |
19 | g.694869C>A | CA402894528 | PRSS57 | c.178G>T (p.Gly60Cys) c.181G>T (p.Gly61Cys) | gnomAD v4 |
19 | g.694869C>G | CA402894527 | PRSS57 | c.178G>C (p.Gly60Arg) c.181G>C (p.Gly61Arg) | |
19 | g.694869C>T | CA402894526 | PRSS57 | c.178G>A (p.Gly60Ser) c.181G>A (p.Gly61Ser) | gnomAD v4 |
19 | g.694870T>A | CA504688242 | PRSS57 | c.177A>T (p.Gly59=) c.180A>T (p.Gly60=) | |
19 | g.694870T>C | CA504688243 | PRSS57 | c.177A>G (p.Gly59=) c.180A>G (p.Gly60=) | dbSNP |
19 | g.694870T>G | CA504688244 | PRSS57 | c.177A>C (p.Gly59=) c.180A>C (p.Gly60=) | |
19 | g.694870T= | CA2317263573 | PRSS57 | c.177A= (p.Gly59=) c.180A= (p.Gly60=) | |
19 | g.694871C>A | CA402894530 | PRSS57 | c.176G>T (p.Gly59Val) c.179G>T (p.Gly60Val) | gnomAD v4 |
19 | g.694871C>G | CA402894533 | PRSS57 | c.176G>C (p.Gly59Ala) c.179G>C (p.Gly60Ala) | |
19 | g.694871C>T | CA402894532 | PRSS57 | c.176G>A (p.Gly59Glu) c.179G>A (p.Gly60Glu) | |
19 | g.694872C>A | CA402894535 | PRSS57 | c.175G>T (p.Gly59Ter) c.178G>T (p.Gly60Ter) | |
19 | g.694872C= | CA2317263574 | PRSS57 | c.175G= (p.Gly59=) c.178G= (p.Gly60=) | |
19 | g.694872C>G | CA402894537 | PRSS57 | c.175G>C (p.Gly59Arg) c.178G>C (p.Gly60Arg) | |
19 | g.694872C>T | CA9022263 | PRSS57 | c.175G>A (p.Gly59Arg) c.178G>A (p.Gly60Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.694872_694873delinsCG | CA2317263575 | PRSS57 | c.174_175delinsCG (p.Cys58=) c.177_178delinsCG (p.Cys59=) | |
19 | g.694873del | CA9022264 | PRSS57 | c.174del (p.Cys58TrpfsTer?) c.177del (p.Cys59TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.694873G>A | CA9022265 | PRSS57 | c.174C>T (p.Cys58=) c.177C>T (p.Cys59=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694873G>C | CA402894542 | PRSS57 | c.174C>G (p.Cys58Trp) c.177C>G (p.Cys59Trp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694873G= | CA2317263576 | PRSS57 | c.174C= (p.Cys58=) c.177C= (p.Cys59=) | |
19 | g.694873G>T | CA9022266 | PRSS57 | c.174C>A (p.Cys58Ter) c.177C>A (p.Cys59Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.694874C>A | CA402894545 | PRSS57 | c.173G>T (p.Cys58Phe) c.176G>T (p.Cys59Phe) | |
19 | g.694874C>G | CA402894546 | PRSS57 | c.173G>C (p.Cys58Ser) c.176G>C (p.Cys59Ser) | |
19 | g.694874C>T | CA402894547 | PRSS57 | c.173G>A (p.Cys58Tyr) c.176G>A (p.Cys59Tyr) | |
19 | g.694875A= | CA2317263577 | PRSS57 | c.172T= (p.Cys58=) c.175T= (p.Cys59=) | |
19 | g.694875A>C | CA402894549 | PRSS57 | c.172T>G (p.Cys58Gly) c.175T>G (p.Cys59Gly) | |
19 | g.694875A>G | CA303953507 | PRSS57 | c.172T>C (p.Cys58Arg) c.175T>C (p.Cys59Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694875A>T | CA402894550 | PRSS57 | c.172T>A (p.Cys58Ser) c.175T>A (p.Cys59Ser) | |
19 | g.694876G>A | CA504688250 | PRSS57 | c.171C>T (p.His57=) c.174C>T (p.His58=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694876G>C | CA402894551 | PRSS57 | c.171C>G (p.His57Gln) c.174C>G (p.His58Gln) | |
19 | g.694876G= | CA2317263578 | PRSS57 | c.171C= (p.His57=) c.174C= (p.His58=) | |
19 | g.694876G>T | CA402894553 | PRSS57 | c.171C>A (p.His57Gln) c.174C>A (p.His58Gln) | |
19 | g.694877T>A | CA402894555 | PRSS57 | c.170A>T (p.His57Leu) c.173A>T (p.His58Leu) | |
19 | g.694877T>C | CA402894557 | PRSS57 | c.170A>G (p.His57Arg) c.173A>G (p.His58Arg) | |
19 | g.694877T>G | CA402894558 | PRSS57 | c.170A>C (p.His57Pro) c.173A>C (p.His58Pro) | |
19 | g.694878G>A | CA402894561 | PRSS57 | c.169C>T (p.His57Tyr) c.172C>T (p.His58Tyr) | dbSNP gnomAD v2 |
19 | g.694878G>C | CA402894562 | PRSS57 | c.169C>G (p.His57Asp) c.172C>G (p.His58Asp) | |
19 | g.694878G= | CA2317263579 | PRSS57 | c.169C= (p.His57=) c.172C= (p.His58=) | |
19 | g.694878G>T | CA402894564 | PRSS57 | c.169C>A (p.His57Asn) c.172C>A (p.His58Asn) | gnomAD v4 |
19 | g.694879A>C | CA402894566 | PRSS57 | c.168T>G (p.His56Gln) c.171T>G (p.His57Gln) | |
19 | g.694879A>G | CA504688253 | PRSS57 | c.168T>C (p.His56=) c.171T>C (p.His57=) | |
19 | g.694879A>T | CA402894567 | PRSS57 | c.168T>A (p.His56Gln) c.171T>A (p.His57Gln) | |
19 | g.694880T>A | CA402894569 | PRSS57 | c.167A>T (p.His56Leu) c.170A>T (p.His57Leu) | gnomAD v4 |
19 | g.694880T>C | CA9022267 | PRSS57 | c.167A>G (p.His56Arg) c.170A>G (p.His57Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694880T>G | CA402894571 | PRSS57 | c.167A>C (p.His56Pro) c.170A>C (p.His57Pro) | |
19 | g.694880T= | CA2317263580 | PRSS57 | c.167A= (p.His56=) c.170A= (p.His57=) | |
19 | g.694881G>A | CA402894577 | PRSS57 | c.166C>T (p.His56Tyr) c.169C>T (p.His57Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694881G>C | CA402894575 | PRSS57 | c.166C>G (p.His56Asp) c.169C>G (p.His57Asp) | |
19 | g.694881G= | CA2317263581 | PRSS57 | c.166C= (p.His56=) c.169C= (p.His57=) | |
19 | g.694881G>T | CA402894574 | PRSS57 | c.166C>A (p.His56Asn) c.169C>A (p.His57Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694882T>A | CA402894578 | PRSS57 | c.165A>T (p.Gln55His) c.168A>T (p.Gln56His) | gnomAD v4 |
19 | g.694882T>C | CA504688257 | PRSS57 | c.165A>G (p.Gln55=) c.168A>G (p.Gln56=) | gnomAD v4 |
19 | g.694882T>G | CA402894580 | PRSS57 | c.165A>C (p.Gln55His) c.168A>C (p.Gln56His) | |
19 | g.694883T>A | CA402894582 | PRSS57 | c.164A>T (p.Gln55Leu) c.167A>T (p.Gln56Leu) | |
19 | g.694883T>C | CA402894583 | PRSS57 | c.164A>G (p.Gln55Arg) c.167A>G (p.Gln56Arg) | dbSNP |
19 | g.694883T>G | CA402894585 | PRSS57 | c.164A>C (p.Gln55Pro) c.167A>C (p.Gln56Pro) | |
19 | g.694883T= | CA2317263582 | PRSS57 | c.164A= (p.Gln55=) c.167A= (p.Gln56=) | |
19 | g.694884G>A | CA402894590 | PRSS57 | c.163C>T (p.Gln55Ter) c.166C>T (p.Gln56Ter) | gnomAD v4 |
19 | g.694884G>C | CA402894588 | PRSS57 | c.163C>G (p.Gln55Glu) c.166C>G (p.Gln56Glu) | |
19 | g.694884G>T | CA402894586 | PRSS57 | c.163C>A (p.Gln55Lys) c.166C>A (p.Gln56Lys) | |
19 | g.694885G>A | CA504688261 | PRSS57 | c.162C>T (p.Gly54=) c.165C>T (p.Gly55=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694885G>C | CA504688262 | PRSS57 | c.162C>G (p.Gly54=) c.165C>G (p.Gly55=) | |
19 | g.694885G= | CA2317263583 | PRSS57 | c.162C= (p.Gly54=) c.165C= (p.Gly55=) | |
19 | g.694885G>T | CA504688263 | PRSS57 | c.162C>A (p.Gly54=) c.165C>A (p.Gly55=) | gnomAD v4 |
19 | g.694886C>A | CA402894592 | PRSS57 | c.161G>T (p.Gly54Val) c.164G>T (p.Gly55Val) | gnomAD v4 |
19 | g.694886C= | CA2317263584 | PRSS57 | c.161G= (p.Gly54=) c.164G= (p.Gly55=) | |
19 | g.694886C>G | CA402894594 | PRSS57 | c.161G>C (p.Gly54Ala) c.164G>C (p.Gly55Ala) | |
19 | g.694886C>T | CA402894595 | PRSS57 | c.161G>A (p.Gly54Asp) c.164G>A (p.Gly55Asp) | dbSNP gnomAD v4 |
19 | g.694890dup | CA2813227829 | PRSS57 | c.161dup (p.Gln55ProfsTer?) c.164dup (p.Gln56ProfsTer?) | |
19 | g.694890del | CA2587779506 | PRSS57 | c.161del (p.Gly54AlafsTer?) c.164del (p.Gly55AlafsTer?) | gnomAD v4 |
19 | g.694887C>A | CA402894597 | PRSS57 | c.160G>T (p.Gly54Cys) c.163G>T (p.Gly55Cys) | |
19 | g.694887C= | CA2317263585 | PRSS57 | c.160G= (p.Gly54=) c.163G= (p.Gly55=) | |
19 | g.694887C>G | CA402894599 | PRSS57 | c.160G>C (p.Gly54Arg) c.163G>C (p.Gly55Arg) | |
19 | g.694887C>T | CA9022268 | PRSS57 | c.160G>A (p.Gly54Ser) c.163G>A (p.Gly55Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.694888C>A | CA504688267 | PRSS57 | c.159G>T (p.Gly53=) c.162G>T (p.Gly54=) | gnomAD v4 |
19 | g.694888C>G | CA504688268 | PRSS57 | c.159G>C (p.Gly53=) c.162G>C (p.Gly54=) | |
19 | g.694888C>T | CA504688266 | PRSS57 | c.159G>A (p.Gly53=) c.162G>A (p.Gly54=) | gnomAD v4 |
19 | g.694889C>A | CA402894601 | PRSS57 | c.158G>T (p.Gly53Val) c.161G>T (p.Gly54Val) | |
19 | g.694889C= | CA2317263586 | PRSS57 | c.158G= (p.Gly53=) c.161G= (p.Gly54=) | |
19 | g.694889C>G | CA402894605 | PRSS57 | c.158G>C (p.Gly53Ala) c.161G>C (p.Gly54Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694889C>T | CA402894603 | PRSS57 | c.158G>A (p.Gly53Glu) c.161G>A (p.Gly54Glu) | |
19 | g.694890C>A | CA303953538 | PRSS57 | c.157G>T (p.Gly53Trp) c.160G>T (p.Gly54Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.694890C= | CA2317263587 | PRSS57 | c.157G= (p.Gly53=) c.160G= (p.Gly54=) | |
19 | g.694890C>G | CA402894606 | PRSS57 | c.157G>C (p.Gly53Arg) c.160G>C (p.Gly54Arg) | gnomAD v4 |
19 | g.694890C>T | CA9022269 | PRSS57 | c.157G>A (p.Gly53Arg) c.160G>A (p.Gly54Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694891G>A | CA9022270 | PRSS57 | c.156C>T (p.Phe52=) c.159C>T (p.Phe53=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694891G>C | CA402894609 | PRSS57 | c.156C>G (p.Phe52Leu) c.159C>G (p.Phe53Leu) | |
19 | g.694891G= | CA2317263588 | PRSS57 | c.156C= (p.Phe52=) c.159C= (p.Phe53=) | |
19 | g.694891G>T | CA402894611 | PRSS57 | c.156C>A (p.Phe52Leu) c.159C>A (p.Phe53Leu) | |
19 | g.694892A= | CA2317263589 | PRSS57 | c.155T= (p.Phe52=) c.158T= (p.Phe53=) | |
19 | g.694892A>C | CA303953560 | PRSS57 | c.155T>G (p.Phe52Cys) c.158T>G (p.Phe53Cys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694892A>G | CA402894615 | PRSS57 | c.155T>C (p.Phe52Ser) c.158T>C (p.Phe53Ser) | |
19 | g.694892A>T | CA402894617 | PRSS57 | c.155T>A (p.Phe52Tyr) c.158T>A (p.Phe53Tyr) | |
19 | g.694893A>C | CA402894620 | PRSS57 | c.154T>G (p.Phe52Val) c.157T>G (p.Phe53Val) | |
19 | g.694893A>G | CA402894621 | PRSS57 | c.154T>C (p.Phe52Leu) c.157T>C (p.Phe53Leu) | |
19 | g.694893A>T | CA402894623 | PRSS57 | c.154T>A (p.Phe52Ile) c.157T>A (p.Phe53Ile) | |
19 | g.694893_694912dup | CA2587779507 | PRSS57 | c.135_154dup (p.Phe52SerfsTer?) c.138_157dup (p.Phe53SerfsTer?) | gnomAD v4 |
19 | g.694894G>A | CA504688274 | PRSS57 | c.153C>T (p.Arg51=) c.156C>T (p.Arg52=) | |
19 | g.694894G>C | CA504688275 | PRSS57 | c.153C>G (p.Arg51=) c.156C>G (p.Arg52=) | |
19 | g.694894G>T | CA504688273 | PRSS57 | c.153C>A (p.Arg51=) c.156C>A (p.Arg52=) | gnomAD v4 |
19 | g.694895C>A | CA9022272 | PRSS57 | c.152G>T (p.Arg51Leu) c.155G>T (p.Arg52Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.694895C= | CA2317263590 | PRSS57 | c.152G= (p.Arg51=) c.155G= (p.Arg52=) | |
19 | g.694895C>G | CA402894627 | PRSS57 | c.152G>C (p.Arg51Pro) c.155G>C (p.Arg52Pro) | dbSNP |
19 | g.694895C>T | CA9022271 | PRSS57 | c.152G>A (p.Arg51His) c.155G>A (p.Arg52His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694896G>A | CA303953571 | PRSS57 | c.151C>T (p.Arg51Cys) c.154C>T (p.Arg52Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694896G>C | CA402894629 | PRSS57 | c.151C>G (p.Arg51Gly) c.154C>G (p.Arg52Gly) | |
19 | g.694896G= | CA2317263591 | PRSS57 | c.151C= (p.Arg51=) c.154C= (p.Arg52=) | |
19 | g.694896G>T | CA402894631 | PRSS57 | c.151C>A (p.Arg51Ser) c.154C>A (p.Arg52Ser) | gnomAD v4 |
19 | g.694897C>A | CA504688279 | PRSS57 | c.150G>T (p.Val50=) c.153G>T (p.Val51=) | |
19 | g.694897C>G | CA504688280 | PRSS57 | c.150G>C (p.Val50=) c.153G>C (p.Val51=) | |
19 | g.694897C>T | CA504688281 | PRSS57 | c.150G>A (p.Val50=) c.153G>A (p.Val51=) | |
19 | g.694898A>C | CA402894633 | PRSS57 | c.149T>G (p.Val50Gly) c.152T>G (p.Val51Gly) | |
19 | g.694898A>G | CA402894635 | PRSS57 | c.149T>C (p.Val50Ala) c.152T>C (p.Val51Ala) | gnomAD v4 |
19 | g.694898A>T | CA402894638 | PRSS57 | c.149T>A (p.Val50Glu) c.152T>A (p.Val51Glu) | |
19 | g.694899C>A | CA402894640 | PRSS57 | c.148G>T (p.Val50Leu) c.151G>T (p.Val51Leu) | |
19 | g.694899C= | CA2317263592 | PRSS57 | c.148G= (p.Val50=) c.151G= (p.Val51=) | |
19 | g.694899C>G | CA402894642 | PRSS57 | c.148G>C (p.Val50Leu) c.151G>C (p.Val51Leu) | |
19 | g.694899C>T | CA9022273 | PRSS57 | c.148G>A (p.Val50Met) c.151G>A (p.Val51Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.694900G>A | CA9022274 | PRSS57 | c.147C>T (p.Ser49=) c.150C>T (p.Ser50=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.694900G>C | CA504688283 | PRSS57 | c.147C>G (p.Ser49=) c.150C>G (p.Ser50=) | dbSNP gnomAD v4 |
19 | g.694900G= | CA2317263593 | PRSS57 | c.147C= (p.Ser49=) c.150C= (p.Ser50=) | |
19 | g.694900G>T | CA504688284 | PRSS57 | c.147C>A (p.Ser49=) c.150C>A (p.Ser50=) | gnomAD v4 |
19 | g.694901G>A | CA402894646 | PRSS57 | c.146C>T (p.Ser49Phe) c.149C>T (p.Ser50Phe) | |
19 | g.694901G>C | CA402894647 | PRSS57 | c.146C>G (p.Ser49Cys) c.149C>G (p.Ser50Cys) | |
19 | g.694901G>T | CA402894648 | PRSS57 | c.146C>A (p.Ser49Tyr) c.149C>A (p.Ser50Tyr) | |
19 | g.694902A>C | CA402894654 | PRSS57 | c.145T>G (p.Ser49Ala) c.148T>G (p.Ser50Ala) | |
19 | g.694902A>G | CA402894652 | PRSS57 | c.145T>C (p.Ser49Pro) c.148T>C (p.Ser50Pro) | |
19 | g.694902A>T | CA402894651 | PRSS57 | c.145T>A (p.Ser49Thr) c.148T>A (p.Ser50Thr) | |
19 | g.694903T>A | CA504688287 | PRSS57 | c.144A>T (p.Ala48=) c.147A>T (p.Ala49=) | gnomAD v4 |
19 | g.694903T>C | CA504688288 | PRSS57 | c.144A>G (p.Ala48=) c.147A>G (p.Ala49=) | |
19 | g.694903T>G | CA9022275 | PRSS57 | c.144A>C (p.Ala48=) c.147A>C (p.Ala49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694903T= | CA2317263594 | PRSS57 | c.144A= (p.Ala48=) c.147A= (p.Ala49=) | |
19 | g.694904G>A | CA402894658 | PRSS57 | c.143C>T (p.Ala48Val) c.146C>T (p.Ala49Val) | dbSNP gnomAD v4 |
19 | g.694904G>C | CA402894660 | PRSS57 | c.143C>G (p.Ala48Gly) c.146C>G (p.Ala49Gly) | |
19 | g.694904G= | CA2317263595 | PRSS57 | c.143C= (p.Ala48=) c.146C= (p.Ala49=) | |
19 | g.694904G>T | CA402894662 | PRSS57 | c.143C>A (p.Ala48Glu) c.146C>A (p.Ala49Glu) | |
19 | g.694905C>A | CA402894663 | PRSS57 | c.142G>T (p.Ala48Ser) c.145G>T (p.Ala49Ser) | gnomAD v4 |
19 | g.694905C>G | CA402894665 | PRSS57 | c.142G>C (p.Ala48Pro) c.145G>C (p.Ala49Pro) | |
19 | g.694905C>T | CA402894666 | PRSS57 | c.142G>A (p.Ala48Thr) c.145G>A (p.Ala49Thr) | gnomAD v4 |
19 | g.694906C>A | CA402894669 | PRSS57 | c.141G>T (p.Met47Ile) c.144G>T (p.Met48Ile) | |
19 | g.694906C= | CA2317263596 | PRSS57 | c.141G= (p.Met47=) c.144G= (p.Met48=) | |
19 | g.694906C>G | CA402894670 | PRSS57 | c.141G>C (p.Met47Ile) c.144G>C (p.Met48Ile) | |
19 | g.694906C>T | CA402894672 | PRSS57 | c.141G>A (p.Met47Ile) c.144G>A (p.Met48Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694907A>C | CA402894675 | PRSS57 | c.140T>G (p.Met47Arg) c.143T>G (p.Met48Arg) | |
19 | g.694907A>G | CA402894677 | PRSS57 | c.140T>C (p.Met47Thr) c.143T>C (p.Met48Thr) | |
19 | g.694907A>T | CA402894678 | PRSS57 | c.140T>A (p.Met47Lys) c.143T>A (p.Met48Lys) | |
19 | g.694908T>A | CA402894683 | PRSS57 | c.139A>T (p.Met47Leu) c.142A>T (p.Met48Leu) | |
19 | g.694908T>C | CA303953593 | PRSS57 | c.139A>G (p.Met47Val) c.142A>G (p.Met48Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694908T>G | CA402894681 | PRSS57 | c.139A>C (p.Met47Leu) c.142A>C (p.Met48Leu) | |
19 | g.694908T= | CA2317263597 | PRSS57 | c.139A= (p.Met47=) c.142A= (p.Met48=) | |
19 | g.694909G>A | CA504688295 | PRSS57 | c.138C>T (p.Tyr46=) c.141C>T (p.Tyr47=) | gnomAD v4 |
19 | g.694909G>C | CA402894687 | PRSS57 | c.138C>G (p.Tyr46Ter) c.141C>G (p.Tyr47Ter) | |
19 | g.694909G>T | CA402894685 | PRSS57 | c.138C>A (p.Tyr46Ter) c.141C>A (p.Tyr47Ter) | gnomAD v4 |
19 | g.694910T>A | CA402894688 | PRSS57 | c.137A>T (p.Tyr46Phe) c.140A>T (p.Tyr47Phe) | |
19 | g.694910T>C | CA402894689 | PRSS57 | c.137A>G (p.Tyr46Cys) c.140A>G (p.Tyr47Cys) | gnomAD v4 |
19 | g.694910T>G | CA402894690 | PRSS57 | c.137A>C (p.Tyr46Ser) c.140A>C (p.Tyr47Ser) | |
19 | g.694911A= | CA2317263598 | PRSS57 | c.136T= (p.Tyr46=) c.139T= (p.Tyr47=) | |
19 | g.694911A>C | CA402894691 | PRSS57 | c.136T>G (p.Tyr46Asp) c.139T>G (p.Tyr47Asp) | |
19 | g.694911A>G | CA402894692 | PRSS57 | c.136T>C (p.Tyr46His) c.139T>C (p.Tyr47His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694911A>T | CA402894693 | PRSS57 | c.136T>A (p.Tyr46Asn) c.139T>A (p.Tyr47Asn) | COSMIC |
19 | g.694912G>A | CA504688298 | PRSS57 | c.135C>T (p.Pro45=) c.138C>T (p.Pro46=) | gnomAD v4 COSMIC |
19 | g.694912G>C | CA504688299 | PRSS57 | c.135C>G (p.Pro45=) c.138C>G (p.Pro46=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694912G= | CA2317263599 | PRSS57 | c.135C= (p.Pro45=) c.138C= (p.Pro46=) | |
19 | g.694912G>T | CA504688300 | PRSS57 | c.135C>A (p.Pro45=) c.138C>A (p.Pro46=) | |
19 | g.694913G>A | CA402894694 | PRSS57 | c.134C>T (p.Pro45Leu) c.137C>T (p.Pro46Leu) | |
19 | g.694913G>C | CA402894695 | PRSS57 | c.134C>G (p.Pro45Arg) c.137C>G (p.Pro46Arg) | |
19 | g.694913G>T | CA402894696 | PRSS57 | c.134C>A (p.Pro45His) c.137C>A (p.Pro46His) | |
19 | g.694914G>A | CA402894698 | PRSS57 | c.133C>T (p.Pro45Ser) c.136C>T (p.Pro46Ser) | dbSNP gnomAD v4 |
19 | g.694914G>C | CA402894699 | PRSS57 | c.133C>G (p.Pro45Ala) c.136C>G (p.Pro46Ala) | |
19 | g.694914G= | CA2317263600 | PRSS57 | c.133C= (p.Pro45=) c.136C= (p.Pro46=) | |
19 | g.694914G>T | CA9022276 | PRSS57 | c.133C>A (p.Pro45Thr) c.136C>A (p.Pro46Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694915C>A | CA402894701 | PRSS57 | c.132G>T (p.Arg44Ser) c.135G>T (p.Arg45Ser) | gnomAD v4 |
19 | g.694915C>G | CA402894700 | PRSS57 | c.132G>C (p.Arg44Ser) c.135G>C (p.Arg45Ser) | |
19 | g.694915C>T | CA504688306 | PRSS57 | c.132G>A (p.Arg44=) c.135G>A (p.Arg45=) |