Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.74259750G>A | CA7266419 | VSX2 | c.728G>A (p.Gly243Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.74259750G>C | CA390369442 | VSX2 | c.728G>C (p.Gly243Ala) | |
14 | g.74259750G= | CA2146964519 | VSX2 | c.728G= (p.Gly243=) | |
14 | g.74259750G>T | CA390369443 | VSX2 | c.728G>T (p.Gly243Val) | |
14 | g.74259751C>A | CA487155964 | VSX2 | c.729C>A (p.Gly243=) | |
14 | g.74259751C>G | CA487155966 | VSX2 | c.729C>G (p.Gly243=) | |
14 | g.74259751C>T | CA487155968 | VSX2 | c.729C>T (p.Gly243=) | gnomAD v4 |
14 | g.74259752A>C | CA390369446 | VSX2 | c.730A>C (p.Ile244Leu) | |
14 | g.74259752A>G | CA390369445 | VSX2 | c.730A>G (p.Ile244Val) | |
14 | g.74259752A>T | CA390369444 | VSX2 | c.730A>T (p.Ile244Phe) | gnomAD v4 |
14 | g.74259753T>A | CA390369447 | VSX2 | c.731T>A (p.Ile244Asn) | |
14 | g.74259753T>C | CA390369449 | VSX2 | c.731T>C (p.Ile244Thr) | |
14 | g.74259753T>G | CA390369448 | VSX2 | c.731T>G (p.Ile244Ser) | |
14 | g.74259754C>A | CA487155970 | VSX2 | c.732C>A (p.Ile244=) | COSMIC |
14 | g.74259754C>G | CA390369450 | VSX2 | c.732C>G (p.Ile244Met) | |
14 | g.74259754C>T | CA487155971 | VSX2 | c.732C>T (p.Ile244=) | |
14 | g.74259755A>C | CA390369453 | VSX2 | c.733A>C (p.Met245Leu) | |
14 | g.74259755A>G | CA390369451 | VSX2 | c.733A>G (p.Met245Val) | |
14 | g.74259755A>T | CA390369452 | VSX2 | c.733A>T (p.Met245Leu) | |
14 | g.74259756T>A | CA390369454 | VSX2 | c.734T>A (p.Met245Lys) | |
14 | g.74259756T>C | CA390369455 | VSX2 | c.734T>C (p.Met245Thr) | |
14 | g.74259756T>G | CA390369456 | VSX2 | c.734T>G (p.Met245Arg) | |
14 | g.74259757G>A | CA390369457 | VSX2 | c.735G>A (p.Met245Ile) | |
14 | g.74259757G>C | CA390369458 | VSX2 | c.735G>C (p.Met245Ile) | gnomAD v4 |
14 | g.74259757G>T | CA390369459 | VSX2 | c.735G>T (p.Met245Ile) | |
14 | g.74259758G>A | CA390369460 | VSX2 | c.736G>A (p.Asp246Asn) | |
14 | g.74259758G>C | CA390369461 | VSX2 | c.736G>C (p.Asp246His) | |
14 | g.74259758G>T | CA390369462 | VSX2 | c.736G>T (p.Asp246Tyr) | |
14 | g.74259759A= | CA2146964520 | VSX2 | c.737A= (p.Asp246=) | |
14 | g.74259759A>C | CA390369464 | VSX2 | c.737A>C (p.Asp246Ala) | dbSNP |
14 | g.74259759A>G | CA7266420 | VSX2 | c.737A>G (p.Asp246Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259759A>T | CA390369463 | VSX2 | c.737A>T (p.Asp246Val) | |
14 | g.74259760C>A | CA390369465 | VSX2 | c.738C>A (p.Asp246Glu) | |
14 | g.74259760C= | CA2146964521 | VSX2 | c.738C= (p.Asp246=) | |
14 | g.74259760C>G | CA390369466 | VSX2 | c.738C>G (p.Asp246Glu) | |
14 | g.74259760C>T | CA487155976 | VSX2 | c.738C>T (p.Asp246=) | dbSNP |
14 | g.74259761T>A | CA390369467 | VSX2 | c.739T>A (p.Ser247Thr) | |
14 | g.74259761T>C | CA390369468 | VSX2 | c.739T>C (p.Ser247Pro) | |
14 | g.74259761T>G | CA390369469 | VSX2 | c.739T>G (p.Ser247Ala) | |
14 | g.74259762C>A | CA390369470 | VSX2 | c.740C>A (p.Ser247Tyr) | |
14 | g.74259762C= | CA2146964522 | VSX2 | c.740C= (p.Ser247=) | |
14 | g.74259762C>G | CA390369471 | VSX2 | c.740C>G (p.Ser247Cys) | |
14 | g.74259762C>T | CA263556667 | VSX2 | c.740C>T (p.Ser247Phe) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259763C>A | CA487155981 | VSX2 | c.741C>A (p.Ser247=) | |
14 | g.74259763C>G | CA487155980 | VSX2 | c.741C>G (p.Ser247=) | |
14 | g.74259763C>T | CA487155979 | VSX2 | c.741C>T (p.Ser247=) | |
14 | g.74259764T>A | CA390369472 | VSX2 | c.742T>A (p.Cys248Ser) | |
14 | g.74259764T>C | CA390369473 | VSX2 | c.742T>C (p.Cys248Arg) | |
14 | g.74259764T>G | CA390369474 | VSX2 | c.742T>G (p.Cys248Gly) | |
14 | g.74259765G>A | CA390369477 | VSX2 | c.743G>A (p.Cys248Tyr) | |
14 | g.74259765G>C | CA390369476 | VSX2 | c.743G>C (p.Cys248Ser) | gnomAD v4 |
14 | g.74259765G>T | CA390369475 | VSX2 | c.743G>T (p.Cys248Phe) | |
14 | g.74259766T>A | CA390369478 | VSX2 | c.744T>A (p.Cys248Ter) | |
14 | g.74259766T>C | CA487155982 | VSX2 | c.744T>C (p.Cys248=) | |
14 | g.74259766T>G | CA390369479 | VSX2 | c.744T>G (p.Cys248Trp) | |
14 | g.74259767G>A | CA390369480 | VSX2 | c.745G>A (p.Ala249Thr) | |
14 | g.74259767G>C | CA390369481 | VSX2 | c.745G>C (p.Ala249Pro) | |
14 | g.74259767G>T | CA390369482 | VSX2 | c.745G>T (p.Ala249Ser) | |
14 | g.74259768C>A | CA7266421 | VSX2 | c.746C>A (p.Ala249Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259768C= | CA2146964523 | VSX2 | c.746C= (p.Ala249=) | |
14 | g.74259768C>G | CA390369483 | VSX2 | c.746C>G (p.Ala249Gly) | gnomAD v4 |
14 | g.74259768C>T | CA390369484 | VSX2 | c.746C>T (p.Ala249Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.74259769C>A | CA487155983 | VSX2 | c.747C>A (p.Ala249=) | |
14 | g.74259769C>G | CA487155984 | VSX2 | c.747C>G (p.Ala249=) | |
14 | g.74259769C>T | CA487155985 | VSX2 | c.747C>T (p.Ala249=) | |
14 | g.74259770C>A | CA390369485 | VSX2 | c.748C>A (p.Pro250Thr) | gnomAD v4 |
14 | g.74259770C>G | CA390369486 | VSX2 | c.748C>G (p.Pro250Ala) | |
14 | g.74259770C>T | CA390369487 | VSX2 | c.748C>T (p.Pro250Ser) | COSMIC |
14 | g.74259771C>A | CA390369488 | VSX2 | c.749C>A (p.Pro250Gln) | |
14 | g.74259771C= | CA2146964524 | VSX2 | c.749C= (p.Pro250=) | |
14 | g.74259771C>G | CA7266423 | VSX2 | c.749C>G (p.Pro250Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259771C>T | CA7266422 | VSX2 | c.749C>T (p.Pro250Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259772G>A | CA7266424 | VSX2 | c.750G>A (p.Pro250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259772G>C | CA487155986 | VSX2 | c.750G>C (p.Pro250=) | |
14 | g.74259772G= | CA2146964525 | VSX2 | c.750G= (p.Pro250=) | |
14 | g.74259772G>T | CA487155987 | VSX2 | c.750G>T (p.Pro250=) | |
14 | g.74259773T>A | CA390369489 | VSX2 | c.751T>A (p.Trp251Arg) | |
14 | g.74259773T>C | CA390369490 | VSX2 | c.751T>C (p.Trp251Arg) | |
14 | g.74259773T>G | CA390369491 | VSX2 | c.751T>G (p.Trp251Gly) | |
14 | g.74259774G>A | CA390369492 | VSX2 | c.752G>A (p.Trp251Ter) | |
14 | g.74259774G>C | CA390369493 | VSX2 | c.752G>C (p.Trp251Ser) | |
14 | g.74259774G>T | CA390369494 | VSX2 | c.752G>T (p.Trp251Leu) | |
14 | g.74259775G>A | CA390369495 | VSX2 | c.753G>A (p.Trp251Ter) | |
14 | g.74259775G>C | CA390369496 | VSX2 | c.753G>C (p.Trp251Cys) | |
14 | g.74259775G>T | CA390369497 | VSX2 | c.753G>T (p.Trp251Cys) | |
14 | g.74259776C>A | CA390369498 | VSX2 | c.754C>A (p.Leu252Ile) | |
14 | g.74259776C= | CA2146964526 | VSX2 | c.754C= (p.Leu252=) | |
14 | g.74259776C>G | CA390369499 | VSX2 | c.754C>G (p.Leu252Val) | |
14 | g.74259776C>T | CA7266425 | VSX2 | c.754C>T (p.Leu252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259777T>A | CA390369501 | VSX2 | c.755T>A (p.Leu252Gln) | |
14 | g.74259777T>C | CA390369502 | VSX2 | c.755T>C (p.Leu252Pro) | |
14 | g.74259777T>G | CA390369500 | VSX2 | c.755T>G (p.Leu252Arg) | |
14 | g.74259778A= | CA2146964527 | VSX2 | c.756A= (p.Leu252=) | |
14 | g.74259778A>C | CA487155988 | VSX2 | c.756A>C (p.Leu252=) | |
14 | g.74259778A>G | CA7266426 | VSX2 | c.756A>G (p.Leu252=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
14 | g.74259778A>T | CA487155989 | VSX2 | c.756A>T (p.Leu252=) | |
14 | g.74259779C>A | CA390369503 | VSX2 | c.757C>A (p.Leu253Met) | |
14 | g.74259779C>G | CA390369504 | VSX2 | c.757C>G (p.Leu253Val) | |
14 | g.74259779C>T | CA487155990 | VSX2 | c.757C>T (p.Leu253=) | ClinVar dbSNP |
14 | g.74259780T>A | CA390369505 | VSX2 | c.758T>A (p.Leu253Gln) | |
14 | g.74259780T>C | CA390369506 | VSX2 | c.758T>C (p.Leu253Pro) | |
14 | g.74259780T>G | CA7266427 | VSX2 | c.758T>G (p.Leu253Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259780T= | CA2146964528 | VSX2 | c.758T= (p.Leu253=) | |
14 | g.74259780_74259781delinsTG | CA2146964529 | VSX2 | c.758_759delinsTG (p.Leu253=) | |
14 | g.74259781G>A | CA487155992 | VSX2 | c.759G>A (p.Leu253=) | |
14 | g.74259781G>C | CA487155995 | VSX2 | c.759G>C (p.Leu253=) | |
14 | g.74259781G>T | CA487155993 | VSX2 | c.759G>T (p.Leu253=) | |
14 | g.74259783del | CA708456151 | VSX2 | c.760+1del | dbSNP |
14 | g.74259782G>A | CA263556732 | VSX2 | c.760G>A (p.Gly254Arg) c.760G>A (p.Val254Ile) | dbSNP gnomAD v2 |
14 | g.74259782G>C | CA390369507 | VSX2 | c.760G>C (p.Gly254Arg) c.760G>C (p.Val254Leu) | |
14 | g.74259782G= | CA2146964530 | VSX2 | c.760G= (p.Gly254=) c.760G= (p.Val254=) | |
14 | g.74259782G>T | CA390369508 | VSX2 | c.760G>T (p.Gly254Trp) c.760G>T (p.Val254Phe) | |
14 | g.74259783G>A | CA263556740 | VSX2 | c.760+1G>A (n.760+1G>A) | dbSNP |
14 | g.74259783G>C | CA390369509 | VSX2 | c.760+1G>C (n.760+1G>C) | |
14 | g.74259783G= | CA2146964531 | VSX2 | c.760+1G= (n.760+1G=) | |
14 | g.74259783G>T | CA390369510 | VSX2 | c.760+1G>T (n.760+1G>T) | gnomAD v4 |
14 | g.74259784T>A | CA390369511 | VSX2 | c.760+2T>A (n.760+2T>A) | |
14 | g.74259784T>C | CA390369512 | VSX2 | c.760+2T>C (n.760+2T>C) | |
14 | g.74259784T>G | CA390369513 | VSX2 | c.760+2T>G (n.760+2T>G) | dbSNP gnomAD v4 |
14 | g.74259784T= | CA2146964532 | VSX2 | c.760+2T= (n.760+2T=) | |
14 | g.74259787G>A | CA615192826 | VSX2 | c.760+5G>A (n.760+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.74259787G>C | CA2625651045 | VSX2 | c.760+5G>C (n.760+5G>C) | gnomAD v4 |
14 | g.74259787G= | CA2146964533 | VSX2 | c.760+5G= (n.760+5G=) | |
14 | g.74259789G>A | CA7266428 | VSX2 | c.760+7G>A (n.760+7G>A) | ClinVar dbSNP ExAC gnomAD v2 |
14 | g.74259789G= | CA2146964534 | VSX2 | c.760+7G= (n.760+7G=) | |
14 | g.74259790C>A | CA2625651046 | VSX2 | c.760+8C>A (n.760+8C>A) | gnomAD v4 |
14 | g.74259790C= | CA2146964535 | VSX2 | c.760+8C= (n.760+8C=) | |
14 | g.74259790C>T | CA7266429 | VSX2 | c.760+8C>T (n.760+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259791C>A | CA2625651047 | VSX2 | c.760+9C>A (n.760+9C>A) | gnomAD v4 |
14 | g.74259791C>T | CA2573150167 | VSX2 | c.760+9C>T (n.760+9C>T) | ClinVar dbSNP |
14 | g.74259792C>A | CA2625651048 | VSX2 | c.760+10C>A (n.760+10C>A) | gnomAD v4 |
14 | g.74259792C= | CA2146964536 | VSX2 | c.760+10C= (n.760+10C=) | |
14 | g.74259792C>G | CA2625651049 | VSX2 | c.760+10C>G (n.760+10C>G) | gnomAD v4 |
14 | g.74259792C>T | CA7266430 | VSX2 | c.760+10C>T (n.760+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259793G>A | CA7266431 | VSX2 | c.760+11G>A (n.760+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259793G= | CA2146964537 | VSX2 | c.760+11G= (n.760+11G=) | |
14 | g.74259793G>T | CA2625651050 | VSX2 | c.760+11G>T (n.760+11G>T) | gnomAD v4 |
14 | g.74259794C>A | CA2625651051 | VSX2 | c.760+12C>A (n.760+12C>A) | gnomAD v4 |
14 | g.74259794C= | CA2146964538 | VSX2 | c.760+12C= (n.760+12C=) | |
14 | g.74259794C>T | CA7266432 | VSX2 | c.760+12C>T (n.760+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259795A= | CA2146964539 | VSX2 | c.760+13A= (n.760+13A=) | |
14 | g.74259795A>C | CA2146964540 | VSX2 | c.760+13A>C (n.760+13A>C) | dbSNP gnomAD v4 |
14 | g.74259795A>G | CA2575575855 | VSX2 | c.760+13A>G (n.760+13A>G) | |
14 | g.74259795A>T | CA2625651052 | VSX2 | c.760+13A>T (n.760+13A>T) | gnomAD v4 |
14 | g.74259797C>A | CA615192827 | VSX2 | c.760+15C>A (n.760+15C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259797C= | CA2146964541 | VSX2 | c.760+15C= (n.760+15C=) | |
14 | g.74259797C>T | CA708456165 | VSX2 | c.760+15C>T (n.760+15C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259798C>A | CA2625651053 | VSX2 | c.760+16C>A (n.760+16C>A) | gnomAD v4 |
14 | g.74259798C= | CA2146964542 | VSX2 | c.760+16C= (n.760+16C=) | |
14 | g.74259798C>T | CA615192828 | VSX2 | c.760+16C>T (n.760+16C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259799del | CA2802149050 | VSX2 | c.760+17del (n.760+17del) | |
14 | g.74259800C= | CA2146964543 | VSX2 | c.760+18C= (n.760+18C=) | |
14 | g.74259800C>T | CA7266433 | VSX2 | c.760+18C>T (n.760+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259801C>A | CA2625651054 | VSX2 | c.760+19C>A (n.760+19C>A) | gnomAD v4 |
14 | g.74259802T>C | CA7266434 | VSX2 | c.760+20T>C (n.760+20T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259802T= | CA2146964544 | VSX2 | c.760+20T= (n.760+20T=) | |
14 | g.74259803T>C | CA2625651055 | VSX2 | c.760+21T>C (n.760+21T>C) | gnomAD v4 |
14 | g.74259804G>A | CA2625651057 | VSX2 | c.760+22G>A (n.760+22G>A) | gnomAD v4 |
14 | g.74259804G>T | CA2802149051 | VSX2 | c.760+22G>T (n.760+22G>T) | |
14 | g.74259807del | CA2625651056 | VSX2 | c.760+25del (n.760+25del) | gnomAD v4 |
14 | g.74259805G>A | CA2625651058 | VSX2 | c.760+23G>A (n.760+23G>A) | gnomAD v4 |
14 | g.74259805G>T | CA2625651059 | VSX2 | c.760+23G>T (n.760+23G>T) | gnomAD v4 |
14 | g.74259807G>T | CA2625651060 | VSX2 | c.760+25G>T (n.760+25G>T) | gnomAD v4 |
14 | g.74259808T>A | CA2625651061 | VSX2 | c.760+26T>A (n.760+26T>A) | gnomAD v4 |
14 | g.74259808T>G | CA2146964546 | VSX2 | c.760+26T>G (n.760+26T>G) | dbSNP |
14 | g.74259808T= | CA2146964545 | VSX2 | c.760+26T= (n.760+26T=) | |
14 | g.74259809C>A | CA615192829 | VSX2 | c.760+27C>A (n.760+27C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259809C= | CA2146964547 | VSX2 | c.760+27C= (n.760+27C=) | |
14 | g.74259809C>T | CA7266435 | VSX2 | c.760+27C>T (n.760+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259810C>A | CA2625651062 | VSX2 | c.760+28C>A (n.760+28C>A) | gnomAD v4 |
14 | g.74259811T>C | CA2575575857 | VSX2 | c.760+29T>C (n.760+29T>C) | gnomAD v4 |
14 | g.74259811dup | CA2625651063 | VSX2 | c.760+29dup (n.760+29dup) | gnomAD v4 |
14 | g.74259811_74259812insA | CA2625651067 | VSX2 | c.760+29_760+30insA (n.760+29_760+30insA) | gnomAD v4 |
14 | g.74259812G>A | CA2625651066 | VSX2 | c.760+30G>A (n.760+30G>A) | gnomAD v4 |
14 | g.74259812G>C | CA2625651065 | VSX2 | c.760+30G>C (n.760+30G>C) | gnomAD v4 |
14 | g.74259812G= | CA2146964548 | VSX2 | c.760+30G= (n.760+30G=) | |
14 | g.74259812G>T | CA2625651064 | VSX2 | c.760+30G>T (n.760+30G>T) | gnomAD v4 |
14 | g.74259812_74259813delinsGC | CA2742041009 | VSX2 | c.760+30_760+31delinsGC (n.760+30_760+31delinsGC) | |
14 | g.74259812_74259813insA | CA2625651068 | VSX2 | c.760+30_760+31insA (n.760+30_760+31insA) | gnomAD v4 |
14 | g.74259812_74259813insT | CA615192830 | VSX2 | c.760+30_760+31insT (n.760+30_760+31insT) | gnomAD v2 gnomAD v4 |
14 | g.74259813C= | CA2146964549 | VSX2 | c.760+31C= (n.760+31C=) | |
14 | g.74259813_74259814insAGGGGCAGGACC | CA2625651069 | VSX2 | c.760+31_760+32insAGGGGCAGGACC (n.760+31_760+32insAGGGGCAGGACC) | gnomAD v4 |
14 | g.74259815_74259816insCTGCAGGACTCCTGTGCCCCGTGGCTACTGGGTAAGAGCCCGCACCCTCCTTGGGGTCCTGCCCC | CA964715456 | VSX2 | c.760+33_760+34insCTGCAGGACTCCTGTGCCCCGTGGCTACTGGGTAAGAGCCCGCACCCTCCTTGGGGTCCTGCCCC (n.760+33_760+34insCTGCAGGACTCCTGTGCCCCGTGGCTACTGGGTAAGAGCCCGCACCCTCCTTGGGGTCCTGCCCC) | gnomAD v3 gnomAD v4 |
14 | g.74259815dup | CA7266436 | VSX2 | c.760+33dup (n.760+33dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259814_74259815dup | CA2625651070 | VSX2 | c.760+32_760+33dup (n.760+32_760+33dup) | gnomAD v4 |
14 | g.74259813_74259814insA | CA615192831 | VSX2 | c.760+31_760+32insA (n.760+31_760+32insA) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.74259814_74259815insA | CA2625651071 | VSX2 | c.760+32_760+33insA (n.760+32_760+33insA) | gnomAD v4 |
14 | g.74259814_74259815insT | CA2575575859 | VSX2 | c.760+32_760+33insT (n.760+32_760+33insT) | gnomAD v4 |
14 | g.74259815C= | CA2146964550 | VSX2 | c.760+33C= (n.760+33C=) | |
14 | g.74259815_74259816insA | CA2625651072 | VSX2 | c.760+33_760+34insA (n.760+33_760+34insA) | gnomAD v4 |
14 | g.74259816T>A | CA2625651073 | VSX2 | c.760+34T>A (n.760+34T>A) | gnomAD v4 |
14 | g.74259816T>C | CA2575575860 | VSX2 | c.760+34T>C (n.760+34T>C) | gnomAD v4 |
14 | g.74259816dup | CA7266437 | VSX2 | c.760+34dup (n.760+34dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259817G= | CA2146964552 | VSX2 | c.760+35G= (n.760+35G=) | |
14 | g.74259817G>T | CA2146964551 | VSX2 | c.760+35G>T (n.760+35G>T) | dbSNP |
14 | g.74259818C>A | CA2625651074 | VSX2 | c.760+36C>A (n.760+36C>A) | gnomAD v4 |
14 | g.74259818C= | CA2146964553 | VSX2 | c.760+36C= (n.760+36C=) | |
14 | g.74259818C>T | CA7266438 | VSX2 | c.760+36C>T (n.760+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.74259819G>A | CA7266439 | VSX2 | c.760+37G>A (n.760+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259819G= | CA2146964554 | VSX2 | c.760+37G= (n.760+37G=) | |
14 | g.74259819G>T | CA2625651075 | VSX2 | c.760+37G>T (n.760+37G>T) | gnomAD v4 |
14 | g.74259820G>A | CA2146964556 | VSX2 | c.760+38G>A (n.760+38G>A) | dbSNP |
14 | g.74259820G= | CA2146964555 | VSX2 | c.760+38G= (n.760+38G=) | |
14 | g.74259820G>T | CA2575575861 | VSX2 | c.760+38G>T (n.760+38G>T) | |
14 | g.74259821T>C | CA2575575863 | VSX2 | c.760+39T>C (n.760+39T>C) | gnomAD v4 |
14 | g.74259822G>A | CA7266440 | VSX2 | c.760+40G>A (n.760+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259822G= | CA2146964557 | VSX2 | c.760+40G= (n.760+40G=) | |
14 | g.74259822G>T | CA2625651076 | VSX2 | c.760+40G>T (n.760+40G>T) | gnomAD v4 |
14 | g.74259825G>A | CA615192832 | VSX2 | c.760+43G>A (n.760+43G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259825G= | CA2146964558 | VSX2 | c.760+43G= (n.760+43G=) | |
14 | g.74259827G>A | CA2729876774 | VSX2 | c.760+45G>A (n.760+45G>A) | dbSNP |
14 | g.74259827G>C | CA263556799 | VSX2 | c.760+45G>C (n.760+45G>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259827G= | CA2146964559 | VSX2 | c.760+45G= (n.760+45G=) | |
14 | g.74259828A>G | CA2625651077 | VSX2 | c.760+46A>G (n.760+46A>G) | gnomAD v4 |
14 | g.74259829G>A | CA615192834 | VSX2 | c.760+47G>A (n.760+47G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.74259829G= | CA2146964560 | VSX2 | c.760+47G= (n.760+47G=) | |
14 | g.74259829G>T | CA615192833 | VSX2 | c.760+47G>T (n.760+47G>T) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.74259830C>A | CA2625651078 | VSX2 | c.760+48C>A (n.760+48C>A) | gnomAD v4 |
14 | g.74259830C= | CA2146964561 | VSX2 | c.760+48C= (n.760+48C=) | |
14 | g.74259830C>T | CA7266441 | VSX2 | c.760+48C>T (n.760+48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259831G>A | CA7266442 | VSX2 | c.760+49G>A (n.760+49G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259831G= | CA2146964562 | VSX2 | c.760+49G= (n.760+49G=) | |
14 | g.74259831G>T | CA2625651079 | VSX2 | c.760+49G>T (n.760+49G>T) | gnomAD v4 |
14 | g.74259832G>C | CA2625651080 | VSX2 | c.760+50G>C (n.760+50G>C) | gnomAD v4 |
14 | g.74259833G>A | CA2625651081 | VSX2 | c.760+51G>A (n.760+51G>A) | gnomAD v4 |
14 | g.74259833G>T | CA2625651082 | VSX2 | c.760+51G>T (n.760+51G>T) | gnomAD v4 |
14 | g.74259834C>A | CA2625651083 | VSX2 | c.760+52C>A (n.760+52C>A) | gnomAD v4 |
14 | g.74259834C= | CA2146964563 | VSX2 | c.760+52C= (n.760+52C=) | |
14 | g.74259834C>T | CA7266443 | VSX2 | c.760+52C>T (n.760+52C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74259834dup | CA2575575864 | VSX2 | c.760+52dup (n.760+52dup) | |
14 | g.74259836C>A | CA2802149052 | VSX2 | c.760+54C>A (n.760+54C>A) | |
14 | g.74259836C= | CA2146964564 | VSX2 | c.760+54C= (n.760+54C=) | |
14 | g.74259836C>T | CA263556806 | VSX2 | c.760+54C>T (n.760+54C>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259837del | CA2625651084 | VSX2 | c.760+55del (n.760+55del) | gnomAD v4 |
14 | g.74259837C>A | CA2625651085 | VSX2 | c.760+55C>A (n.760+55C>A) | gnomAD v4 |
14 | g.74259838T>A | CA2625651086 | VSX2 | c.760+56T>A (n.760+56T>A) | gnomAD v4 |
14 | g.74259839T>A | CA2625651087 | VSX2 | c.760+57T>A (n.760+57T>A) | gnomAD v4 |
14 | g.74259840G>T | CA2625651089 | VSX2 | c.760+58G>T (n.760+58G>T) | gnomAD v4 |
14 | g.74259841del | CA2625651088 | VSX2 | c.760+59del (n.760+59del) | gnomAD v4 |
14 | g.74259841G>T | CA2625651090 | VSX2 | c.760+59G>T (n.760+59G>T) | gnomAD v4 |
14 | g.74259842A>G | CA2625651091 | VSX2 | c.760+60A>G (n.760+60A>G) | gnomAD v4 |
14 | g.74259843G>A | CA2625651092 | VSX2 | c.760+61G>A (n.760+61G>A) | gnomAD v4 |
14 | g.74259843G>T | CA2802149053 | VSX2 | c.760+61G>T (n.760+61G>T) | |
14 | g.74259844G>A | CA708456177 | VSX2 | c.760+62G>A (n.760+62G>A) | dbSNP |
14 | g.74259844G= | CA2146964565 | VSX2 | c.760+62G= (n.760+62G=) | |
14 | g.74259844G>T | CA2625651093 | VSX2 | c.760+62G>T (n.760+62G>T) | gnomAD v4 |
14 | g.74259845A>G | CA2575575865 | VSX2 | c.760+63A>G (n.760+63A>G) | gnomAD v4 |
14 | g.74259845_74259847delinsAGG | CA2146964566 | VSX2 | c.760+63_760+65delinsAGG (n.760+63_760+65delinsAGG) | |
14 | g.74259846G>A | CA708456178 | VSX2 | c.760+64G>A (n.760+64G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74259846G>C | CA263556824 | VSX2 | c.760+64G>C (n.760+64G>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259846G= | CA2146964568 | VSX2 | c.760+64G= (n.760+64G=) | |
14 | g.74259846G>T | CA2625651094 | VSX2 | c.760+64G>T (n.760+64G>T) | gnomAD v4 |
14 | g.74259849del | CA2625651095 | VSX2 | c.760+67del (n.760+67del) | gnomAD v4 |
14 | g.74259848_74259849del | CA2146964567 | VSX2 | c.760+66_760+67del (n.760+66_760+67del) | dbSNP gnomAD v4 |
14 | g.74259847G>A | CA2625651096 | VSX2 | c.760+65G>A (n.760+65G>A) | gnomAD v4 |
14 | g.74259847G>T | CA2625651097 | VSX2 | c.760+65G>T (n.760+65G>T) | gnomAD v4 |
14 | g.74259848G>A | CA964715464 | VSX2 | c.760+66G>A (n.760+66G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259848G= | CA2146964569 | VSX2 | c.760+66G= (n.760+66G=) | |
14 | g.74259849G>A | CA708456180 | VSX2 | c.760+67G>A (n.760+67G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74259849G= | CA2146964570 | VSX2 | c.760+67G= (n.760+67G=) | |
14 | g.74259849G>T | CA2625651098 | VSX2 | c.760+67G>T (n.760+67G>T) | gnomAD v4 |
14 | g.74259850A>C | CA2625651099 | VSX2 | c.760+68A>C (n.760+68A>C) | gnomAD v4 |
14 | g.74259850A>G | CA2625651100 | VSX2 | c.760+68A>G (n.760+68A>G) | gnomAD v4 |