Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.694767G>A | CA9022240 | PRSS57 | c.233+47C>T (n.233+47C>T) c.236+47C>T (n.236+47C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.694767G= | CA2317263517 | PRSS57 | c.233+47C= (n.233+47C=) c.236+47C= (n.236+47C=) | |
19 | g.694767G>T | CA2587779291 | PRSS57 | c.233+47C>A (n.233+47C>A) c.236+47C>A (n.236+47C>A) | gnomAD v4 |
19 | g.694768T>C | CA2587779293 | PRSS57 | c.233+46A>G (n.233+46A>G) c.236+46A>G (n.236+46A>G) | gnomAD v4 |
19 | g.694769C>A | CA2587779297 | PRSS57 | c.233+45G>T (n.233+45G>T) c.236+45G>T (n.236+45G>T) | gnomAD v4 |
19 | g.694769C= | CA2317263518 | PRSS57 | c.233+45G= (n.233+45G=) c.236+45G= (n.236+45G=) | |
19 | g.694769C>G | CA631294546 | PRSS57 | c.233+45G>C (n.233+45G>C) c.236+45G>C (n.236+45G>C) | dbSNP gnomAD v2 |
19 | g.694769C>T | CA9022241 | PRSS57 | c.233+45G>A (n.233+45G>A) c.236+45G>A (n.236+45G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694770G>A | CA303953352 | PRSS57 | c.233+44C>T (n.233+44C>T) c.236+44C>T (n.236+44C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.694770G>C | CA303953357 | PRSS57 | c.233+44C>G (n.233+44C>G) c.236+44C>G (n.236+44C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.694770G= | CA2317263519 | PRSS57 | c.233+44C= (n.233+44C=) c.236+44C= (n.236+44C=) | |
19 | g.694770G>T | CA631294547 | PRSS57 | c.233+44C>A (n.233+44C>A) c.236+44C>A (n.236+44C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694771G>A | CA2587779306 | PRSS57 | c.233+43C>T (n.233+43C>T) c.236+43C>T (n.236+43C>T) | gnomAD v4 |
19 | g.694771G>T | CA2587779308 | PRSS57 | c.233+43C>A (n.233+43C>A) c.236+43C>A (n.236+43C>A) | gnomAD v4 |
19 | g.694772G>A | CA2587779313 | PRSS57 | c.233+42C>T (n.233+42C>T) c.236+42C>T (n.236+42C>T) | gnomAD v4 |
19 | g.694772G>C | CA2587779312 | PRSS57 | c.233+42C>G (n.233+42C>G) c.236+42C>G (n.236+42C>G) | gnomAD v4 |
19 | g.694772G>T | CA2587779310 | PRSS57 | c.233+42C>A (n.233+42C>A) c.236+42C>A (n.236+42C>A) | gnomAD v4 |
19 | g.694773A>G | CA2587779314 | PRSS57 | c.233+41T>C (n.233+41T>C) c.236+41T>C (n.236+41T>C) | gnomAD v4 |
19 | g.694774T>C | CA2839600245 | PRSS57 | c.233+40A>G (n.233+40A>G) c.236+40A>G (n.236+40A>G) | |
19 | g.694774T>G | CA2504080491 | PRSS57 | c.233+40A>C (n.233+40A>C) c.236+40A>C (n.236+40A>C) | |
19 | g.694775A>G | CA2587779315 | PRSS57 | c.233+39T>C (n.233+39T>C) c.236+39T>C (n.236+39T>C) | gnomAD v4 |
19 | g.694776C>A | CA2587779317 | PRSS57 | c.233+38G>T (n.233+38G>T) c.236+38G>T (n.236+38G>T) | gnomAD v4 |
19 | g.694776C= | CA2317263520 | PRSS57 | c.233+38G= (n.233+38G=) c.236+38G= (n.236+38G=) | |
19 | g.694776C>G | CA2317263521 | PRSS57 | c.233+38G>C (n.233+38G>C) c.236+38G>C (n.236+38G>C) | dbSNP gnomAD v4 |
19 | g.694776C>T | CA303953361 | PRSS57 | c.233+38G>A (n.233+38G>A) c.236+38G>A (n.236+38G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694777G>A | CA9022242 | PRSS57 | c.233+37C>T (n.233+37C>T) c.236+37C>T (n.236+37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694777G>C | CA2587779321 | PRSS57 | c.233+37C>G (n.233+37C>G) c.236+37C>G (n.236+37C>G) | gnomAD v4 |
19 | g.694777G= | CA2317263522 | PRSS57 | c.233+37C= (n.233+37C=) c.236+37C= (n.236+37C=) | |
19 | g.694777G>T | CA2587779323 | PRSS57 | c.233+37C>A (n.233+37C>A) c.236+37C>A (n.236+37C>A) | gnomAD v4 |
19 | g.694780G>A | CA2576538666 | PRSS57 | c.233+34C>T (n.233+34C>T) c.236+34C>T (n.236+34C>T) | gnomAD v4 |
19 | g.694781T>C | CA2587779326 | PRSS57 | c.233+33A>G (n.233+33A>G) c.236+33A>G (n.236+33A>G) | gnomAD v4 |
19 | g.694782C>A | CA2587779328 | PRSS57 | c.233+32G>T (n.233+32G>T) c.236+32G>T (n.236+32G>T) | gnomAD v4 |
19 | g.694782C>G | CA2510619647 | PRSS57 | c.233+32G>C (n.233+32G>C) c.236+32G>C (n.236+32G>C) | gnomAD v4 |
19 | g.694783C>A | CA2587779331 | PRSS57 | c.233+31G>T (n.233+31G>T) c.236+31G>T (n.236+31G>T) | gnomAD v4 |
19 | g.694783C>G | CA2587779333 | PRSS57 | c.233+31G>C (n.233+31G>C) c.236+31G>C (n.236+31G>C) | gnomAD v4 |
19 | g.694784A= | CA2317263523 | PRSS57 | c.233+30T= (n.233+30T=) c.236+30T= (n.236+30T=) | |
19 | g.694784A>C | CA884127556 | PRSS57 | c.233+30T>G (n.233+30T>G) c.236+30T>G (n.236+30T>G) | dbSNP |
19 | g.694784A>G | CA2587779334 | PRSS57 | c.233+30T>C (n.233+30T>C) c.236+30T>C (n.236+30T>C) | gnomAD v4 |
19 | g.694788A>G | CA2587779335 | PRSS57 | c.233+26T>C (n.233+26T>C) c.236+26T>C (n.236+26T>C) | dbSNP gnomAD v4 |
19 | g.694789G>C | CA2587779336 | PRSS57 | c.233+25C>G (n.233+25C>G) c.236+25C>G (n.236+25C>G) | gnomAD v4 |
19 | g.694789G>T | CA2587779337 | PRSS57 | c.233+25C>A (n.233+25C>A) c.236+25C>A (n.236+25C>A) | gnomAD v4 |
19 | g.694791A>G | CA2587779338 | PRSS57 | c.233+23T>C (n.233+23T>C) c.236+23T>C (n.236+23T>C) | dbSNP gnomAD v4 |
19 | g.694791_694792delinsAG | CA2317263524 | PRSS57 | c.233+22_233+23delinsCT (n.233+22_233+23delinsCT) c.236+22_236+23delinsCT (n.236+22_236+23delinsCT) | |
19 | g.694795del | CA920034306 | PRSS57 | c.233+22del (n.233+22del) c.236+22del (n.236+22del) | dbSNP |
19 | g.694793G>A | CA2587779339 | PRSS57 | c.233+21C>T (n.233+21C>T) c.236+21C>T (n.236+21C>T) | gnomAD v4 |
19 | g.694793G= | CA2317263525 | PRSS57 | c.233+21C= (n.233+21C=) c.236+21C= (n.236+21C=) | |
19 | g.694793G>T | CA884127560 | PRSS57 | c.233+21C>A (n.233+21C>A) c.236+21C>A (n.236+21C>A) | dbSNP gnomAD v4 |
19 | g.694794G= | CA2317263526 | PRSS57 | c.233+20C= (n.233+20C=) c.236+20C= (n.236+20C=) | |
19 | g.694794G>T | CA9022243 | PRSS57 | c.233+20C>A (n.233+20C>A) c.236+20C>A (n.236+20C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.694795G>A | CA9022244 | PRSS57 | c.233+19C>T (n.233+19C>T) c.236+19C>T (n.236+19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694795G= | CA2317263527 | PRSS57 | c.233+19C= (n.233+19C=) c.236+19C= (n.236+19C=) | |
19 | g.694796C>A | CA2587779343 | PRSS57 | c.233+18G>T (n.233+18G>T) c.236+18G>T (n.236+18G>T) | gnomAD v4 |
19 | g.694796C= | CA2317263528 | PRSS57 | c.233+18G= (n.233+18G=) c.236+18G= (n.236+18G=) | |
19 | g.694796C>T | CA631294548 | PRSS57 | c.233+18G>A (n.233+18G>A) c.236+18G>A (n.236+18G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694797C>A | CA2587779348 | PRSS57 | c.233+17G>T (n.233+17G>T) c.236+17G>T (n.236+17G>T) | gnomAD v4 |
19 | g.694798C>A | CA2587779352 | PRSS57 | c.233+16G>T (n.233+16G>T) c.236+16G>T (n.236+16G>T) | gnomAD v4 |
19 | g.694798C= | CA2317263529 | PRSS57 | c.233+16G= (n.233+16G=) c.236+16G= (n.236+16G=) | |
19 | g.694798C>G | CA2317263530 | PRSS57 | c.233+16G>C (n.233+16G>C) c.236+16G>C (n.236+16G>C) | dbSNP gnomAD v4 |
19 | g.694798C>T | CA9022245 | PRSS57 | c.233+16G>A (n.233+16G>A) c.236+16G>A (n.236+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694799G>A | CA9022246 | PRSS57 | c.233+15C>T (n.233+15C>T) c.236+15C>T (n.236+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694799G>C | CA2576538667 | PRSS57 | c.233+15C>G (n.233+15C>G) c.236+15C>G (n.236+15C>G) | |
19 | g.694799G= | CA2317263531 | PRSS57 | c.233+15C= (n.233+15C=) c.236+15C= (n.236+15C=) | |
19 | g.694799G>T | CA2587779355 | PRSS57 | c.233+15C>A (n.233+15C>A) c.236+15C>A (n.236+15C>A) | gnomAD v4 |
19 | g.694800A>G | CA2587779356 | PRSS57 | c.233+14T>C (n.233+14T>C) c.236+14T>C (n.236+14T>C) | gnomAD v4 |
19 | g.694801C>G | CA2576538668 | PRSS57 | c.233+13G>C (n.233+13G>C) c.236+13G>C (n.236+13G>C) | gnomAD v4 |
19 | g.694802A>G | CA2587779358 | PRSS57 | c.233+12T>C (n.233+12T>C) c.236+12T>C (n.236+12T>C) | gnomAD v4 |
19 | g.694803G>A | CA2587779360 | PRSS57 | c.233+11C>T (n.233+11C>T) c.236+11C>T (n.236+11C>T) | gnomAD v4 |
19 | g.694803G>T | CA2587779361 | PRSS57 | c.233+11C>A (n.233+11C>A) c.236+11C>A (n.236+11C>A) | gnomAD v4 |
19 | g.694804G>A | CA303953374 | PRSS57 | c.233+10C>T (n.233+10C>T) c.236+10C>T (n.236+10C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694804G>C | CA9022247 | PRSS57 | c.233+10C>G (n.233+10C>G) c.236+10C>G (n.236+10C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694804G= | CA2317263532 | PRSS57 | c.233+10C= (n.233+10C=) c.236+10C= (n.236+10C=) | |
19 | g.694804G>T | CA631294549 | PRSS57 | c.233+10C>A (n.233+10C>A) c.236+10C>A (n.236+10C>A) | dbSNP gnomAD v2 |
19 | g.694805T>C | CA303953380 | PRSS57 | c.233+9A>G (n.233+9A>G) c.236+9A>G (n.236+9A>G) | dbSNP gnomAD v4 |
19 | g.694805T>G | CA2587779369 | PRSS57 | c.233+9A>C (n.233+9A>C) c.236+9A>C (n.236+9A>C) | gnomAD v4 |
19 | g.694805T= | CA2317263533 | PRSS57 | c.233+9A= (n.233+9A=) c.236+9A= (n.236+9A=) | |
19 | g.694806G>A | CA2587779372 | PRSS57 | c.233+8C>T (n.233+8C>T) c.236+8C>T (n.236+8C>T) | gnomAD v4 |
19 | g.694807A= | CA2317263534 | PRSS57 | c.233+7T= (n.233+7T=) c.236+7T= (n.236+7T=) | |
19 | g.694807A>G | CA9022248 | PRSS57 | c.233+7T>C (n.233+7T>C) c.236+7T>C (n.236+7T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694808G>A | CA9022249 | PRSS57 | c.233+6C>T (n.233+6C>T) c.236+6C>T (n.236+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.694808G= | CA2317263535 | PRSS57 | c.233+6C= (n.233+6C=) c.236+6C= (n.236+6C=) | |
19 | g.694808G>T | CA2587779374 | PRSS57 | c.233+6C>A (n.233+6C>A) c.236+6C>A (n.236+6C>A) | gnomAD v4 |
19 | g.694809C>A | CA2587779376 | PRSS57 | c.233+5G>T (n.233+5G>T) c.236+5G>T (n.236+5G>T) | gnomAD v4 |
19 | g.694809C>T | CA2587779375 | PRSS57 | c.233+5G>A (n.233+5G>A) c.236+5G>A (n.236+5G>A) | gnomAD v4 |
19 | g.694811C>A | CA2587779378 | PRSS57 | c.233+3G>T (n.233+3G>T) c.236+3G>T (n.236+3G>T) | gnomAD v4 |
19 | g.694812A= | CA2317263536 | PRSS57 | c.233+2T= (n.233+2T=) c.236+2T= (n.236+2T=) | |
19 | g.694812A>C | CA402894316 | PRSS57 | c.233+2T>G (n.233+2T>G) c.236+2T>G (n.236+2T>G) | dbSNP |
19 | g.694812A>G | CA303953403 | PRSS57 | c.233+2T>C (n.233+2T>C) c.236+2T>C (n.236+2T>C) | dbSNP |
19 | g.694812A>T | CA402894318 | PRSS57 | c.233+2T>A (n.233+2T>A) c.236+2T>A (n.236+2T>A) | |
19 | g.694813C>A | CA402894321 | PRSS57 | c.233+1G>T (n.233+1G>T) c.236+1G>T (n.236+1G>T) | |
19 | g.694813C= | CA2317263537 | PRSS57 | c.233+1G= (n.233+1G=) c.236+1G= (n.236+1G=) | |
19 | g.694813C>G | CA402894323 | PRSS57 | c.233+1G>C (n.233+1G>C) c.236+1G>C (n.236+1G>C) | |
19 | g.694813C>T | CA402894325 | PRSS57 | c.233+1G>A (n.233+1G>A) c.236+1G>A (n.236+1G>A) | dbSNP gnomAD v4 |
19 | g.694814C>A | CA402894328 | PRSS57 | c.233G>T (p.Arg78Ile) c.236G>T (p.Arg79Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.694814C= | CA2317263539 | PRSS57 | c.233G= (p.Arg78=) c.236G= (p.Arg79=) | |
19 | g.694814C>G | CA402894330 | PRSS57 | c.233G>C (p.Arg78Thr) c.236G>C (p.Arg79Thr) | |
19 | g.694814C>T | CA402894332 | PRSS57 | c.233G>A (p.Arg78Lys) c.236G>A (p.Arg79Lys) | gnomAD v4 |
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=) |