| 3 | g.71784983C>A | CA353501285 | PROK2 | c.70G>T (p.Ala24Ser)
| dbSNP gnomAD v4 |
| 3 | g.71784983C>G | CA270914 | PROK2 | c.70G>C (p.Ala24Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71784983C>T | CA353501286 | PROK2 | c.70G>A (p.Ala24Thr)
| dbSNP gnomAD v4 |
| 3 | g.71784984G>A | CA434163228 | PROK2 | c.69C>T (p.Arg23=)
| gnomAD v4 |
| 3 | g.71784984G>C | CA434163229 | PROK2 | c.69C>G (p.Arg23=)
| |
| 3 | g.71784984G>T | CA434163230 | PROK2 | c.69C>A (p.Arg23=)
| gnomAD v4 |
| 3 | g.71784985del | CA2666513517 | PROK2 | c.68del (p.Arg23ProfsTer7)
| gnomAD v4 |
| 3 | g.71784985C>A | CA353501287 | PROK2 | c.68G>T (p.Arg23Leu)
| gnomAD v4 |
| 3 | g.71784985C>G | CA353501288 | PROK2 | c.68G>C (p.Arg23Pro)
| |
| 3 | g.71784985C>T | CA76548312 | PROK2 | c.68G>A (p.Arg23His)
| dbSNP gnomAD v4 |
| 3 | g.71784986G>A | CA76548313 | PROK2 | c.67C>T (p.Arg23Cys)
| dbSNP gnomAD v4 |
| 3 | g.71784986G>C | CA353501289 | PROK2 | c.67C>G (p.Arg23Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71784986G>T | CA353501290 | PROK2 | c.67C>A (p.Arg23Ser)
| gnomAD v4 |
| 3 | g.71784989del | CA2666513518 | PROK2 | c.67del (p.Arg23AlafsTer7)
| gnomAD v4 |
| 3 | g.71784987G>A | CA434163235 | PROK2 | c.66C>T (p.Pro22=)
| gnomAD v4 |
| 3 | g.71784987G>C | CA434163238 | PROK2 | c.66C>G (p.Pro22=)
| |
| 3 | g.71784987G>T | CA434163236 | PROK2 | c.66C>A (p.Pro22=)
| gnomAD v4 |
| 3 | g.71784988G>A | CA353501291 | PROK2 | c.65C>T (p.Pro22Leu)
| gnomAD v4 |
| 3 | g.71784988G>C | CA353501292 | PROK2 | c.65C>G (p.Pro22Arg)
| gnomAD v4 |
| 3 | g.71784988G>T | CA353501293 | PROK2 | c.65C>A (p.Pro22His)
| gnomAD v4 |
| 3 | g.71784989G>A | CA353501294 | PROK2 | c.64C>T (p.Pro22Ser)
| gnomAD v4 |
| 3 | g.71784989G>C | CA353501295 | PROK2 | c.64C>G (p.Pro22Ala)
| |
| 3 | g.71784989G>T | CA353501296 | PROK2 | c.64C>A (p.Pro22Thr)
| gnomAD v4 |
| 3 | g.71784990C>A | CA434163244 | PROK2 | c.63G>T (p.Thr21=)
| gnomAD v4 |
| 3 | g.71784990C>G | CA434163246 | PROK2 | c.63G>C (p.Thr21=)
| |
| 3 | g.71784990C>T | CA76548314 | PROK2 | c.63G>A (p.Thr21=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71784991G>A | CA353501298 | PROK2 | c.62C>T (p.Thr21Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71784991G>C | CA353501299 | PROK2 | c.62C>G (p.Thr21Arg)
| |
| 3 | g.71784991G>T | CA353501297 | PROK2 | c.62C>A (p.Thr21Lys)
| gnomAD v4 |
| 3 | g.71784992T>A | CA353501300 | PROK2 | c.61A>T (p.Thr21Ser)
| gnomAD v4 |
| 3 | g.71784992T>C | CA353501301 | PROK2 | c.61A>G (p.Thr21Ala)
| gnomAD v4 |
| 3 | g.71784992T>G | CA353501302 | PROK2 | c.61A>C (p.Thr21Pro)
| |
| 3 | g.71784992dup | CA2666513519 | PROK2 | c.61dup (p.Thr21AsnfsTer15)
| gnomAD v4 |
| 3 | g.71784993G>A | CA434163260 | PROK2 | c.60C>T (p.Leu20=)
| gnomAD v4 |
| 3 | g.71784993G>C | CA434163264 | PROK2 | c.60C>G (p.Leu20=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71784993G>T | CA434163262 | PROK2 | c.60C>A (p.Leu20=)
| gnomAD v4 |
| 3 | g.71784994A>C | CA353501303 | PROK2 | c.59T>G (p.Leu20Arg)
| |
| 3 | g.71784994A>G | CA353501304 | PROK2 | c.59T>C (p.Leu20Pro)
| gnomAD v4 |
| 3 | g.71784994A>T | CA353501305 | PROK2 | c.59T>A (p.Leu20His)
| gnomAD v4 |
| 3 | g.71785000_71785002del | CA2666513520 | PROK2 | c.57_59del (p.Leu20del)
| gnomAD v4 |
| 3 | g.71784995G>A | CA353501306 | PROK2 | c.58C>T (p.Leu20Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.71784995G>C | CA353501307 | PROK2 | c.58C>G (p.Leu20Val)
| gnomAD v4 |
| 3 | g.71784995G>T | CA353501308 | PROK2 | c.58C>A (p.Leu20Ile)
| gnomAD v4 |
| 3 | g.71785003_71785014del | CA2666513521 | PROK2 | c.47_58del (p.Pro16_Leu19del)
| gnomAD v4 |
| 3 | g.71784996del | CA2756755867 | PROK2 | c.57del (p.Leu20SerfsTer10)
| |
| 3 | g.71784996C>A | CA434163273 | PROK2 | c.57G>T (p.Leu19=)
| gnomAD v4 |
| 3 | g.71784996C>G | CA434163275 | PROK2 | c.57G>C (p.Leu19=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71784996C>T | CA434163277 | PROK2 | c.57G>A (p.Leu19=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71784997A>C | CA353501309 | PROK2 | c.56T>G (p.Leu19Arg)
| |
| 3 | g.71784997A>G | CA353501310 | PROK2 | c.56T>C (p.Leu19Pro)
| gnomAD v4 |
| 3 | g.71784997A>T | CA353501311 | PROK2 | c.56T>A (p.Leu19Gln)
| |
| 3 | g.71784998G>A | CA434163283 | PROK2 | c.55C>T (p.Leu19=)
| dbSNP gnomAD v4 |
| 3 | g.71784998G>C | CA353501313 | PROK2 | c.55C>G (p.Leu19Val)
| |
| 3 | g.71784998G>T | CA353501312 | PROK2 | c.55C>A (p.Leu19Met)
| gnomAD v4 |
| 3 | g.71784999C>A | CA434163287 | PROK2 | c.54G>T (p.Leu18=)
| gnomAD v4 |
| 3 | g.71784999C>G | CA434163288 | PROK2 | c.54G>C (p.Leu18=)
| |
| 3 | g.71784999C>T | CA76548316 | PROK2 | c.54G>A (p.Leu18=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71785000A>C | CA353501314 | PROK2 | c.53T>G (p.Leu18Arg)
| |
| 3 | g.71785000A>G | CA353501315 | PROK2 | c.53T>C (p.Leu18Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71785000A>T | CA353501316 | PROK2 | c.53T>A (p.Leu18Gln)
| gnomAD v4 |
| 3 | g.71785001G>A | CA434163294 | PROK2 | c.52C>T (p.Leu18=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785001G>C | CA353501317 | PROK2 | c.52C>G (p.Leu18Val)
| gnomAD v4 |
| 3 | g.71785001G>T | CA353501318 | PROK2 | c.52C>A (p.Leu18Met)
| gnomAD v4 |
| 3 | g.71785006_71785008del | CA2666513522 | PROK2 | c.50_52del (p.Pro17del)
| gnomAD v4 |
| 3 | g.71785002del | CA2666513523 | PROK2 | c.51del (p.Leu18CysfsTer12)
| gnomAD v4 |
| 3 | g.71785002C>A | CA434163303 | PROK2 | c.51G>T (p.Pro17=)
| gnomAD v4 |
| 3 | g.71785002C>G | CA434163298 | PROK2 | c.51G>C (p.Pro17=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785002C>T | CA434163301 | PROK2 | c.51G>A (p.Pro17=)
| gnomAD v4 COSMIC |
| 3 | g.71785003G>A | CA353501319 | PROK2 | c.50C>T (p.Pro17Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71785003G>C | CA353501320 | PROK2 | c.50C>G (p.Pro17Arg)
| |
| 3 | g.71785003G>T | CA353501321 | PROK2 | c.50C>A (p.Pro17Gln)
| gnomAD v4 |
| 3 | g.71785004G>A | CA353501322 | PROK2 | c.49C>T (p.Pro17Ser)
| gnomAD v4 |
| 3 | g.71785004G>C | CA353501323 | PROK2 | c.49C>G (p.Pro17Ala)
| |
| 3 | g.71785004G>T | CA353501324 | PROK2 | c.49C>A (p.Pro17Thr)
| gnomAD v4 |
| 3 | g.71785005C>A | CA434163310 | PROK2 | c.48G>T (p.Pro16=)
| gnomAD v4 |
| 3 | g.71785005C>G | CA434163313 | PROK2 | c.48G>C (p.Pro16=)
| gnomAD v4 |
| 3 | g.71785005C>T | CA434163314 | PROK2 | c.48G>A (p.Pro16=)
| gnomAD v4 |
| 3 | g.71785006G>A | CA353501325 | PROK2 | c.47C>T (p.Pro16Leu)
| gnomAD v4 |
| 3 | g.71785006G>C | CA353501326 | PROK2 | c.47C>G (p.Pro16Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785006G>T | CA353501327 | PROK2 | c.47C>A (p.Pro16Gln)
| gnomAD v4 |
| 3 | g.71785007G>A | CA353501329 | PROK2 | c.46C>T (p.Pro16Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71785007G>C | CA353501330 | PROK2 | c.46C>G (p.Pro16Ala)
| |
| 3 | g.71785007G>T | CA353501328 | PROK2 | c.46C>A (p.Pro16Thr)
| gnomAD v4 |
| 3 | g.71785013_71785015dup | CA2666513525 | PROK2 | c.44_46dup (p.Leu15_Pro16insLeu)
| gnomAD v4 |
| 3 | g.71785010_71785015dup | CA2497038051 | PROK2 | c.41_46dup (p.Leu15_Pro16insLeuLeu)
| dbSNP gnomAD v4 |
| 3 | g.71785013_71785015del | CA2666513524 | PROK2 | c.44_46del (p.Leu15del)
| gnomAD v4 |
| 3 | g.71785008C>A | CA434163324 | PROK2 | c.45G>T (p.Leu15=)
| gnomAD v4 |
| 3 | g.71785008C>G | CA434163328 | PROK2 | c.45G>C (p.Leu15=)
| gnomAD v4 |
| 3 | g.71785008C>T | CA434163326 | PROK2 | c.45G>A (p.Leu15=)
| gnomAD v4 |
| 3 | g.71785009A>C | CA353501333 | PROK2 | c.44T>G (p.Leu15Arg)
| |
| 3 | g.71785009A>G | CA353501331 | PROK2 | c.44T>C (p.Leu15Pro)
| gnomAD v4 |
| 3 | g.71785009A>T | CA353501332 | PROK2 | c.44T>A (p.Leu15Gln)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.71785010G>A | CA434163334 | PROK2 | c.43C>T (p.Leu15=)
| gnomAD v4 |
| 3 | g.71785010G>C | CA353501334 | PROK2 | c.43C>G (p.Leu15Val)
| |
| 3 | g.71785010G>T | CA353501335 | PROK2 | c.43C>A (p.Leu15Met)
| gnomAD v4 |
| 3 | g.71785011del | CA2666513526 | PROK2 | c.42del (p.Leu15CysfsTer15)
| gnomAD v4 |
| 3 | g.71785011C>A | CA434163339 | PROK2 | c.42G>T (p.Leu14=)
| gnomAD v4 |
| 3 | g.71785011C>G | CA434163342 | PROK2 | c.42G>C (p.Leu14=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785011C>T | CA434163344 | PROK2 | c.42G>A (p.Leu14=)
| dbSNP gnomAD v4 |
| 3 | g.71785012A>C | CA353501336 | PROK2 | c.41T>G (p.Leu14Arg)
| |
| 3 | g.71785012A>G | CA353501337 | PROK2 | c.41T>C (p.Leu14Pro)
| gnomAD v4 |
| 3 | g.71785012A>T | CA353501338 | PROK2 | c.41T>A (p.Leu14Gln)
| |
| 3 | g.71785013G>A | CA434163350 | PROK2 | c.40C>T (p.Leu14=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785013G>C | CA353501339 | PROK2 | c.40C>G (p.Leu14Val)
| |
| 3 | g.71785013G>T | CA353501340 | PROK2 | c.40C>A (p.Leu14Met)
| gnomAD v4 |
| 3 | g.71785014C>A | CA353501341 | PROK2 | c.39G>T (p.Leu13Phe)
| dbSNP gnomAD v4 |
| 3 | g.71785014C>G | CA353501342 | PROK2 | c.39G>C (p.Leu13Phe)
| gnomAD v4 |
| 3 | g.71785014C>T | CA434163357 | PROK2 | c.39G>A (p.Leu13=)
| gnomAD v4 |
| 3 | g.71785015A>C | CA353501343 | PROK2 | c.38T>G (p.Leu13Trp)
| gnomAD v4 |
| 3 | g.71785015A>G | CA353501344 | PROK2 | c.38T>C (p.Leu13Ser)
| gnomAD v4 |
| 3 | g.71785015A>T | CA353501345 | PROK2 | c.38T>A (p.Leu13Ter)
| |
| 3 | g.71785016del | CA2666513527 | PROK2 | c.38del (p.Leu13CysfsTer17)
| gnomAD v4 |
| 3 | g.71785016A>C | CA353501346 | PROK2 | c.37T>G (p.Leu13Val)
| |
| 3 | g.71785016A>G | CA434163368 | PROK2 | c.37T>C (p.Leu13=)
| dbSNP gnomAD v4 |
| 3 | g.71785016A>T | CA353501347 | PROK2 | c.37T>A (p.Leu13Met)
| |
| 3 | g.71785017G>A | CA434163371 | PROK2 | c.36C>T (p.Leu12=)
| gnomAD v4 |
| 3 | g.71785017G>C | CA434163372 | PROK2 | c.36C>G (p.Leu12=)
| |
| 3 | g.71785017G>T | CA434163373 | PROK2 | c.36C>A (p.Leu12=)
| gnomAD v4 |
| 3 | g.71785018_71785033del | CA2599833440 | PROK2 | c.21_36del (p.Pro8CysfsTer17)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785018A>C | CA353501348 | PROK2 | c.35T>G (p.Leu12Arg)
| |
| 3 | g.71785018A>G | CA76548321 | PROK2 | c.35T>C (p.Leu12Pro)
| dbSNP gnomAD v4 |
| 3 | g.71785018A>T | CA353501349 | PROK2 | c.35T>A (p.Leu12His)
| |
| 3 | g.71785019G>A | CA353501350 | PROK2 | c.34C>T (p.Leu12Phe)
| gnomAD v4 |
| 3 | g.71785019G>C | CA353501351 | PROK2 | c.34C>G (p.Leu12Val)
| |
| 3 | g.71785019G>T | CA353501352 | PROK2 | c.34C>A (p.Leu12Ile)
| gnomAD v4 |
| 3 | g.71785020G>A | CA434163379 | PROK2 | c.33C>T (p.Leu11=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785020G>C | CA434163381 | PROK2 | c.33C>G (p.Leu11=)
| |
| 3 | g.71785020G>T | CA434163380 | PROK2 | c.33C>A (p.Leu11=)
| gnomAD v4 |
| 3 | g.71785021A>C | CA353501353 | PROK2 | c.32T>G (p.Leu11Arg)
| |
| 3 | g.71785021A>G | CA353501354 | PROK2 | c.32T>C (p.Leu11Pro)
| gnomAD v4 |
| 3 | g.71785021A>T | CA353501355 | PROK2 | c.32T>A (p.Leu11His)
| gnomAD v4 |
| 3 | g.71785022G>A | CA353501356 | PROK2 | c.31C>T (p.Leu11Phe)
| gnomAD v4 |
| 3 | g.71785022G>C | CA353501357 | PROK2 | c.31C>G (p.Leu11Val)
| gnomAD v4 |
| 3 | g.71785022G>T | CA353501358 | PROK2 | c.31C>A (p.Leu11Ile)
| gnomAD v4 |
| 3 | g.71785023del | CA2666513528 | PROK2 | c.30del (p.Leu11SerfsTer19)
| gnomAD v4 |
| 3 | g.71785023C>A | CA76548325 | PROK2 | c.30G>T (p.Leu10=)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.71785023C>G | CA434163383 | PROK2 | c.30G>C (p.Leu10=)
| |
| 3 | g.71785023C>T | CA434163386 | PROK2 | c.30G>A (p.Leu10=)
| gnomAD v4 |
| 3 | g.71785024A>C | CA353501361 | PROK2 | c.29T>G (p.Leu10Arg)
| gnomAD v4 |
| 3 | g.71785024A>G | CA353501360 | PROK2 | c.29T>C (p.Leu10Pro)
| gnomAD v4 |
| 3 | g.71785024A>T | CA353501359 | PROK2 | c.29T>A (p.Leu10Gln)
| |
| 3 | g.71785025G>A | CA434163393 | PROK2 | c.28C>T (p.Leu10=)
| dbSNP gnomAD v4 |
| 3 | g.71785025G>C | CA353501362 | PROK2 | c.28C>G (p.Leu10Val)
| |
| 3 | g.71785025G>T | CA353501363 | PROK2 | c.28C>A (p.Leu10Met)
| gnomAD v4 |
| 3 | g.71785026del | CA2666513529 | PROK2 | c.28del (p.Leu10CysfsTer20)
| gnomAD v4 |
| 3 | g.71785026G>A | CA76548351 | PROK2 | c.27C>T (p.Leu9=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785026G>C | CA434163396 | PROK2 | c.27C>G (p.Leu9=)
| gnomAD v4 |
| 3 | g.71785026G>T | CA434163398 | PROK2 | c.27C>A (p.Leu9=)
| gnomAD v4 |
| 3 | g.71785027A>C | CA353501364 | PROK2 | c.26T>G (p.Leu9Arg)
| gnomAD v4 |
| 3 | g.71785027A>G | CA353501365 | PROK2 | c.26T>C (p.Leu9Pro)
| gnomAD v4 |
| 3 | g.71785027A>T | CA353501366 | PROK2 | c.26T>A (p.Leu9His)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785028G>A | CA2492026 | PROK2 | c.25C>T (p.Leu9Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71785028G>C | CA353501367 | PROK2 | c.25C>G (p.Leu9Val)
| |
| 3 | g.71785028G>T | CA353501368 | PROK2 | c.25C>A (p.Leu9Ile)
| gnomAD v4 |
| 3 | g.71785029T>A | CA434163405 | PROK2 | c.24A>T (p.Pro8=)
| gnomAD v4 |
| 3 | g.71785029T>C | CA434163406 | PROK2 | c.24A>G (p.Pro8=)
| gnomAD v4 |
| 3 | g.71785029T>G | CA434163408 | PROK2 | c.24A>C (p.Pro8=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785030G>A | CA353501369 | PROK2 | c.23C>T (p.Pro8Leu)
| gnomAD v4 |
| 3 | g.71785030G>C | CA353501370 | PROK2 | c.23C>G (p.Pro8Arg)
| gnomAD v4 |
| 3 | g.71785030G>T | CA353501371 | PROK2 | c.23C>A (p.Pro8Gln)
| gnomAD v4 |
| 3 | g.71785033del | CA543597965 | PROK2 | c.23del (p.Pro8HisfsTer22)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.71785031G>A | CA353501373 | PROK2 | c.22C>T (p.Pro8Ser)
| gnomAD v4 |
| 3 | g.71785031G>C | CA353501374 | PROK2 | c.22C>G (p.Pro8Ala)
| |
| 3 | g.71785031G>T | CA353501372 | PROK2 | c.22C>A (p.Pro8Thr)
| gnomAD v4 |
| 3 | g.71785032G>A | CA434163418 | PROK2 | c.21C>T (p.Ala7=)
| gnomAD v4 |
| 3 | g.71785032G>C | CA434163420 | PROK2 | c.21C>G (p.Ala7=)
| |
| 3 | g.71785032G>T | CA434163421 | PROK2 | c.21C>A (p.Ala7=)
| dbSNP gnomAD v4 |
| 3 | g.71785033G>A | CA353501375 | PROK2 | c.20C>T (p.Ala7Val)
| dbSNP gnomAD v4 |
| 3 | g.71785033G>C | CA353501376 | PROK2 | c.20C>G (p.Ala7Gly)
| |
| 3 | g.71785033G>T | CA353501377 | PROK2 | c.20C>A (p.Ala7Asp)
| gnomAD v4 |
| 3 | g.71785034C>A | CA353501378 | PROK2 | c.19G>T (p.Ala7Ser)
| gnomAD v4 |
| 3 | g.71785034C>G | CA353501379 | PROK2 | c.19G>C (p.Ala7Pro)
| gnomAD v4 |
| 3 | g.71785034C>T | CA353501380 | PROK2 | c.19G>A (p.Ala7Thr)
| gnomAD v4 |
| 3 | g.71785035G>A | CA434163429 | PROK2 | c.18C>T (p.Cys6=)
| dbSNP gnomAD v4 |
| 3 | g.71785035G>C | CA353501381 | PROK2 | c.18C>G (p.Cys6Trp)
| |
| 3 | g.71785035G>T | CA353501382 | PROK2 | c.18C>A (p.Cys6Ter)
| gnomAD v4 |
| 3 | g.71785036del | CA2666513530 | PROK2 | c.17del (p.Cys6SerfsTer24)
| gnomAD v4 |
| 3 | g.71785036C>A | CA353501383 | PROK2 | c.17G>T (p.Cys6Phe)
| gnomAD v4 |
| 3 | g.71785036C>G | CA353501384 | PROK2 | c.17G>C (p.Cys6Ser)
| |
| 3 | g.71785036C>T | CA353501385 | PROK2 | c.17G>A (p.Cys6Tyr)
| gnomAD v4 |
| 3 | g.71785037A>C | CA353501386 | PROK2 | c.16T>G (p.Cys6Gly)
| |
| 3 | g.71785037A>G | CA353501387 | PROK2 | c.16T>C (p.Cys6Arg)
| gnomAD v4 |
| 3 | g.71785037A>T | CA353501388 | PROK2 | c.16T>A (p.Cys6Ser)
| dbSNP gnomAD v4 |
| 3 | g.71785038G>A | CA434163439 | PROK2 | c.15C>T (p.Cys5=)
| gnomAD v4 |
| 3 | g.71785038G>C | CA353501389 | PROK2 | c.15C>G (p.Cys5Trp)
| |
| 3 | g.71785038G>T | CA353501390 | PROK2 | c.15C>A (p.Cys5Ter)
| gnomAD v4 |
| 3 | g.71785039C>A | CA353501391 | PROK2 | c.14G>T (p.Cys5Phe)
| gnomAD v4 |
| 3 | g.71785039C>G | CA353501393 | PROK2 | c.14G>C (p.Cys5Ser)
| |
| 3 | g.71785039C>T | CA353501392 | PROK2 | c.14G>A (p.Cys5Tyr)
| gnomAD v4 |
| 3 | g.71785040A>C | CA353501394 | PROK2 | c.13T>G (p.Cys5Gly)
| |
| 3 | g.71785040A>G | CA353501395 | PROK2 | c.13T>C (p.Cys5Arg)
| |
| 3 | g.71785040A>T | CA353501396 | PROK2 | c.13T>A (p.Cys5Ser)
| gnomAD v4 |
| 3 | g.71785041C>A | CA434163449 | PROK2 | c.12G>T (p.Leu4=)
| gnomAD v4 |
| 3 | g.71785041C>G | CA434163451 | PROK2 | c.12G>C (p.Leu4=)
| gnomAD v4 |
| 3 | g.71785041C>T | CA434163453 | PROK2 | c.12G>A (p.Leu4=)
| gnomAD v4 |
| 3 | g.71785042A>C | CA353501397 | PROK2 | c.11T>G (p.Leu4Arg)
| gnomAD v4 |
| 3 | g.71785042A>G | CA353501398 | PROK2 | c.11T>C (p.Leu4Pro)
| gnomAD v4 |
| 3 | g.71785042A>T | CA353501399 | PROK2 | c.11T>A (p.Leu4Gln)
| gnomAD v4 |
| 3 | g.71785043G>A | CA434163459 | PROK2 | c.10C>T (p.Leu4=)
| gnomAD v4 |
| 3 | g.71785043G>C | CA353501400 | PROK2 | c.10C>G (p.Leu4Val)
| |
| 3 | g.71785043G>T | CA353501401 | PROK2 | c.10C>A (p.Leu4Met)
| gnomAD v4 |
| 3 | g.71785044G>A | CA434163463 | PROK2 | c.9C>T (p.Ser3=)
| gnomAD v4 |
| 3 | g.71785044G>C | CA353501402 | PROK2 | c.9C>G (p.Ser3Arg)
| |
| 3 | g.71785044G>T | CA353501403 | PROK2 | c.9C>A (p.Ser3Arg)
| gnomAD v4 |
| 3 | g.71785045C>A | CA353501404 | PROK2 | c.8G>T (p.Ser3Ile)
| gnomAD v4 |
| 3 | g.71785045C>G | CA353501405 | PROK2 | c.8G>C (p.Ser3Thr)
| gnomAD v4 |
| 3 | g.71785045C>T | CA2492027 | PROK2 | c.8G>A (p.Ser3Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71785046T>A | CA353501408 | PROK2 | c.7A>T (p.Ser3Cys)
| |
| 3 | g.71785046T>C | CA353501407 | PROK2 | c.7A>G (p.Ser3Gly)
| ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.71785046T>G | CA353501406 | PROK2 | c.7A>C (p.Ser3Arg)
| |
| 3 | g.71785047C>A | CA353501409 | PROK2 | c.6G>T (p.Arg2Ser)
| gnomAD v4 |
| 3 | g.71785047C>G | CA353501410 | PROK2 | c.6G>C (p.Arg2Ser)
| dbSNP |
| 3 | g.71785047C>T | CA434163479 | PROK2 | c.6G>A (p.Arg2=)
| |
| 3 | g.71785048del | CA2577841927 | PROK2 | c.6del (p.Ser3AlafsTer27)
| gnomAD v4 |
| 3 | g.71785048C>A | CA353501411 | PROK2 | c.5G>T (p.Arg2Met)
| gnomAD v4 |
| 3 | g.71785048C>G | CA353501412 | PROK2 | c.5G>C (p.Arg2Thr)
| |
| 3 | g.71785048C>T | CA353501413 | PROK2 | c.5G>A (p.Arg2Lys)
| gnomAD v4 |
| 3 | g.71785049T>A | CA353501414 | PROK2 | c.4A>T (p.Arg2Trp)
| |
| 3 | g.71785049T>C | CA353501415 | PROK2 | c.4A>G (p.Arg2Gly)
| gnomAD v4 |
| 3 | g.71785049T>G | CA434163486 | PROK2 | c.4A>C (p.Arg2=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785050del | CA2577841928 | PROK2 | c.3del (p.Met1IlefsTer29)
| |
| 3 | g.71785050C>A | CA353501416 | PROK2 | c.3G>T (p.Met1Ile)
| gnomAD v4 |
| 3 | g.71785050C>G | CA353501417 | PROK2 | c.3G>C (p.Met1Ile)
| gnomAD v4 |
| 3 | g.71785050C>T | CA353501418 | PROK2 | c.3G>A (p.Met1Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785051A>C | CA353501419 | PROK2 | c.2T>G (p.Met1Arg)
| gnomAD v4 |
| 3 | g.71785051A>G | CA353501420 | PROK2 | c.2T>C (p.Met1Thr)
| dbSNP gnomAD v4 |
| 3 | g.71785051A>T | CA353501421 | PROK2 | c.2T>A (p.Met1Lys)
| |
| 3 | g.71785052T>A | CA353501423 | PROK2 | c.1A>T (p.Met1Leu)
| |
| 3 | g.71785052T>C | CA353501424 | PROK2 | c.1A>G (p.Met1Val)
| dbSNP gnomAD v4 |
| 3 | g.71785052T>G | CA353501422 | PROK2 | c.1A>C (p.Met1Leu)
| dbSNP gnomAD v4 |
| 3 | g.71785053G>A | CA2666513531 | PROK2 | c.-1C>T (n.-1C>T)
| gnomAD v4 |
| 3 | g.71785053G>T | CA2666513532 | PROK2 | c.-1C>A (n.-1C>A)
| gnomAD v4 |
| 3 | g.71785054G>A | CA2666513533 | PROK2 | c.-2C>T (n.-2C>T)
| gnomAD v4 |
| 3 | g.71785054G>T | CA2573052239 | PROK2 | c.-2C>A (n.-2C>A)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.71785055C>A | CA2666513534 | PROK2 | c.-3G>T (n.-3G>T)
| gnomAD v4 |
| 3 | g.71785055C>T | CA2666513535 | PROK2 | c.-3G>A (n.-3G>A)
| gnomAD v4 |
| 3 | g.71785056G>A | CA2666513536 | PROK2 | c.-4C>T (n.-4C>T)
| gnomAD v4 |
| 3 | g.71785056G>T | CA2492028 | PROK2 | c.-4C>A (n.-4C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71785057C>A | CA2666513538 | PROK2 | c.-5G>T (n.-5G>T)
| dbSNP gnomAD v4 |
| 3 | g.71785057C>T | CA2492029 | PROK2 | c.-5G>A (n.-5G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71785059del | CA2666513537 | PROK2 | c.-5del (n.-5del)
| gnomAD v4 |
| 3 | g.71785058C>A | CA2702959534 | PROK2 | c.-6G>T (n.-6G>T)
| dbSNP |
| 3 | g.71785058C>T | CA2666513539 | PROK2 | c.-6G>A (n.-6G>A)
| gnomAD v4 |
| 3 | g.71785059C>A | CA2666513540 | PROK2 | c.-7G>T (n.-7G>T)
| gnomAD v4 |
| 3 | g.71785059C>T | CA2666513541 | PROK2 | c.-7G>A (n.-7G>A)
| gnomAD v4 |
| 3 | g.71785060T>A | CA2666513542 | PROK2 | c.-8A>T (n.-8A>T)
| gnomAD v4 |
| 3 | g.71785060T>C | CA910039902 | PROK2 | c.-8A>G (n.-8A>G)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785060T>G | CA2666513543 | PROK2 | c.-8A>C (n.-8A>C)
| gnomAD v4 |
| 3 | g.71785061del | CA2577841929 | PROK2 | c.-9del (n.-9del)
| |
| 3 | g.71785061C>A | CA910039904 | PROK2 | c.-9G>T (n.-9G>T)
| dbSNP gnomAD v4 |
| 3 | g.71785061C>G | CA910039903 | PROK2 | c.-9G>C (n.-9G>C)
| dbSNP |
| 3 | g.71785061C>T | CA910039905 | PROK2 | c.-9G>A (n.-9G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785062G>A | CA2666513546 | PROK2 | c.-10C>T (n.-10C>T)
| dbSNP gnomAD v4 |
| 3 | g.71785062G>C | CA2666513545 | PROK2 | c.-10C>G (n.-10C>G)
| gnomAD v4 |
| 3 | g.71785062G>T | CA2666513544 | PROK2 | c.-10C>A (n.-10C>A)
| gnomAD v4 |
| 3 | g.71785063G>A | CA2666513547 | PROK2 | c.-11C>T (n.-11C>T)
| gnomAD v4 |
| 3 | g.71785063G>T | CA2666513548 | PROK2 | c.-11C>A (n.-11C>A)
| gnomAD v4 |
| 3 | g.71785064G>A | CA2666513549 | PROK2 | c.-12C>T (n.-12C>T)
| gnomAD v4 |
| 3 | g.71785064G>C | CA2666513550 | PROK2 | c.-12C>G (n.-12C>G)
| gnomAD v4 |
| 3 | g.71785064G>T | CA2666513551 | PROK2 | c.-12C>A (n.-12C>A)
| gnomAD v4 |
| 3 | g.71785065A>G | CA2666513552 | PROK2 | c.-13T>C (n.-13T>C)
| gnomAD v4 |
| 3 | g.71785066C>A | CA2666513553 | PROK2 | c.-14G>T (n.-14G>T)
| gnomAD v4 |
| 3 | g.71785066C>T | CA543597966 | PROK2 | c.-14G>A (n.-14G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.71785067T>C | CA2666513554 | PROK2 | c.-15A>G (n.-15A>G)
| gnomAD v4 |
| 3 | g.71785068G>A | CA76548393 | PROK2 | c.-16C>T (n.-16C>T)
| dbSNP gnomAD v4 |
| 3 | g.71785068G>T | CA2666513555 | PROK2 | c.-16C>A (n.-16C>A)
| gnomAD v4 |
| 3 | g.71785069G>A | CA2666513556 | PROK2 | c.-17C>T (n.-17C>T)
| gnomAD v4 |
| 3 | g.71785069G>T | CA2666513557 | PROK2 | c.-17C>A (n.-17C>A)
| gnomAD v4 |
| 3 | g.71785070G>A | CA2492030 | PROK2 | c.-18C>T (n.-18C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.71785070G>T | CA2666513558 | PROK2 | c.-18C>A (n.-18C>A)
| gnomAD v4 |
| 3 | g.71785071_71785072del | CA2577841930 | PROK2 | c.-19_-18del (n.-19_-18del)
| |
| 3 | g.71785071C>A | CA2666513559 | PROK2 | c.-19G>T (n.-19G>T)
| gnomAD v4 |
| 3 | g.71785071C>T | CA2666513560 | PROK2 | c.-19G>A (n.-19G>A)
| gnomAD v4 |
| 3 | g.71785072G>A | CA910039910 | PROK2 | c.-20C>T (n.-20C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785072G>T | CA2666513561 | PROK2 | c.-20C>A (n.-20C>A)
| dbSNP gnomAD v4 |
| 3 | g.71785073G>A | CA910039912 | PROK2 | c.-21C>T (n.-21C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785073G>T | CA2666513562 | PROK2 | c.-21C>A (n.-21C>A)
| gnomAD v4 |
| 3 | g.71785074C>A | CA910039917 | PROK2 | c.-22G>T (n.-22G>T)
| dbSNP |
| 3 | g.71785074C>T | CA2577841931 | PROK2 | c.-22G>A (n.-22G>A)
| dbSNP gnomAD v4 |
| 3 | g.71785075C>A | CA2666513563 | PROK2 | c.-23G>T (n.-23G>T)
| dbSNP gnomAD v4 |
| 3 | g.71785075C>T | CA2666513564 | PROK2 | c.-23G>A (n.-23G>A)
| gnomAD v4 |
| 3 | g.71785076G>A | CA2666513565 | PROK2 | c.-24C>T (n.-24C>T)
| gnomAD v4 |
| 3 | g.71785076G>T | CA2577841932 | PROK2 | c.-24C>A (n.-24C>A)
| gnomAD v4 |
| 3 | g.71785077C>A | CA2666513566 | PROK2 | c.-25G>T (n.-25G>T)
| gnomAD v4 |
| 3 | g.71785077C>T | CA2666513567 | PROK2 | c.-25G>A (n.-25G>A)
| gnomAD v4 |
| 3 | g.71785078C>A | CA2666513568 | PROK2 | c.-26G>T (n.-26G>T)
| gnomAD v4 |
| 3 | g.71785078C>G | CA2666513569 | PROK2 | c.-26G>C (n.-26G>C)
| dbSNP gnomAD v4 |
| 3 | g.71785078C>T | CA910039920 | PROK2 | c.-26G>A (n.-26G>A)
| dbSNP gnomAD v4 |
| 3 | g.71785079G>A | CA910039922 | PROK2 | c.-27C>T (n.-27C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785079G>T | CA910039926 | PROK2 | c.-27C>A (n.-27C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.71785080del | CA2666513570 | PROK2 | c.-27del (n.-27del)
| gnomAD v4 |
| 3 | g.71785080G>T | CA2577841933 | PROK2 | c.-28C>A (n.-28C>A)
| gnomAD v4 |
| 3 | g.71785081A>G | CA2666513571 | PROK2 | c.-29T>C (n.-29T>C)
| gnomAD v4 |
| 3 | g.71785082G>A | CA2666513572 | PROK2 | c.-30C>T (n.-30C>T)
| gnomAD v4 |
| 3 | g.71785082G>T | CA2666513573 | PROK2 | c.-30C>A (n.-30C>A)
| gnomAD v4 |
| 3 | g.71785083G>A | CA2666513574 | PROK2 | c.-31C>T (n.-31C>T)
| gnomAD v4 |
| 3 | g.71785083G>T | CA2666513575 | PROK2 | c.-31C>A (n.-31C>A)
| gnomAD v4 |
