Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47441880_47441923dup | CA1139661959 | RAPSN | c.691-2_732dup c.532-2_573dup | ClinVar dbSNP |
11 | g.47441897G>A | CA221716825 | RAPSN | c.715C>T (p.His239Tyr) c.556C>T (p.His186Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441897G>C | CA380330419 | RAPSN | c.715C>G (p.His239Asp) c.556C>G (p.His186Asp) | |
11 | g.47441897G= | CA1969387719 | RAPSN | c.715C= (p.His239=) c.556C= (p.His186=) | |
11 | g.47441897G>T | CA380330422 | RAPSN | c.715C>A (p.His239Asn) c.556C>A (p.His186Asn) | gnomAD v4 |
11 | g.47441898C>A | CA380330437 | RAPSN | c.714G>T (p.Gln238His) c.555G>T (p.Gln185His) | gnomAD v4 |
11 | g.47441898C>G | CA380330434 | RAPSN | c.714G>C (p.Gln238His) c.555G>C (p.Gln185His) | gnomAD v4 |
11 | g.47441898C>T | CA474218448 | RAPSN | c.714G>A (p.Gln238=) c.555G>A (p.Gln185=) | ClinVar dbSNP gnomAD v4 |
11 | g.47441899T>A | CA380330438 | RAPSN | c.713A>T (p.Gln238Leu) c.554A>T (p.Gln185Leu) | |
11 | g.47441899T>C | CA380330440 | RAPSN | c.713A>G (p.Gln238Arg) c.554A>G (p.Gln185Arg) | gnomAD v4 |
11 | g.47441899T>G | CA380330443 | RAPSN | c.713A>C (p.Gln238Pro) c.554A>C (p.Gln185Pro) | |
11 | g.47441900G>A | CA380330446 | RAPSN | c.712C>T (p.Gln238Ter) c.553C>T (p.Gln185Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47441900G>C | CA380330449 | RAPSN | c.712C>G (p.Gln238Glu) c.553C>G (p.Gln185Glu) | |
11 | g.47441900G= | CA1969387720 | RAPSN | c.712C= (p.Gln238=) c.553C= (p.Gln185=) | |
11 | g.47441900G>T | CA380330451 | RAPSN | c.712C>A (p.Gln238Lys) c.553C>A (p.Gln185Lys) | gnomAD v4 |
11 | g.47441901C>A | CA474218455 | RAPSN | c.711G>T (p.Leu237=) c.552G>T (p.Leu184=) | gnomAD v4 |
11 | g.47441901C>G | CA474218457 | RAPSN | c.711G>C (p.Leu237=) c.552G>C (p.Leu184=) | |
11 | g.47441901C>T | CA474218459 | RAPSN | c.711G>A (p.Leu237=) c.552G>A (p.Leu184=) | gnomAD v4 |
11 | g.47441902A= | CA1969387721 | RAPSN | c.710T= (p.Leu237=) c.551T= (p.Leu184=) | |
11 | g.47441902A>C | CA380330453 | RAPSN | c.710T>G (p.Leu237Arg) c.551T>G (p.Leu184Arg) | dbSNP |
11 | g.47441902A>G | CA380330458 | RAPSN | c.710T>C (p.Leu237Pro) c.551T>C (p.Leu184Pro) | gnomAD v4 |
11 | g.47441902A>T | CA380330455 | RAPSN | c.710T>A (p.Leu237Gln) c.551T>A (p.Leu184Gln) | |
11 | g.47441903G>A | CA474218464 | RAPSN | c.709C>T (p.Leu237=) c.550C>T (p.Leu184=) | ClinVar dbSNP gnomAD v4 |
11 | g.47441903G>C | CA380330461 | RAPSN | c.709C>G (p.Leu237Val) c.550C>G (p.Leu184Val) | |
11 | g.47441903G>T | CA380330464 | RAPSN | c.709C>A (p.Leu237Met) c.550C>A (p.Leu184Met) | gnomAD v4 |
11 | g.47441904C>A | CA474218467 | RAPSN | c.708G>T (p.Ala236=) c.549G>T (p.Ala183=) | gnomAD v4 |
11 | g.47441904C= | CA1969387722 | RAPSN | c.708G= (p.Ala236=) c.549G= (p.Ala183=) | |
11 | g.47441904C>G | CA474218469 | RAPSN | c.708G>C (p.Ala236=) c.549G>C (p.Ala183=) | gnomAD v4 |
11 | g.47441904C>T | CA5976659 | RAPSN | c.708G>A (p.Ala236=) c.549G>A (p.Ala183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441905G>A | CA380330465 | RAPSN | c.707C>T (p.Ala236Val) c.548C>T (p.Ala183Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441905G>C | CA380330473 | RAPSN | c.707C>G (p.Ala236Gly) c.548C>G (p.Ala183Gly) | |
11 | g.47441905G= | CA1969387723 | RAPSN | c.707C= (p.Ala236=) c.548C= (p.Ala183=) | |
11 | g.47441905G>T | CA380330476 | RAPSN | c.707C>A (p.Ala236Glu) c.548C>A (p.Ala183Glu) | gnomAD v4 |
11 | g.47441906C>A | CA380330479 | RAPSN | c.706G>T (p.Ala236Ser) c.547G>T (p.Ala183Ser) | gnomAD v4 |
11 | g.47441906C= | CA1969387724 | RAPSN | c.706G= (p.Ala236=) c.547G= (p.Ala183=) | |
11 | g.47441906C>G | CA380330483 | RAPSN | c.706G>C (p.Ala236Pro) c.547G>C (p.Ala183Pro) | |
11 | g.47441906C>T | CA5976660 | RAPSN | c.706G>A (p.Ala236Thr) c.547G>A (p.Ala183Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441907G>A | CA5976661 | RAPSN | c.705C>T (p.Ile235=) c.546C>T (p.Ile182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.47441907G>C | CA380330495 | RAPSN | c.705C>G (p.Ile235Met) c.546C>G (p.Ile182Met) | |
11 | g.47441907G= | CA1969387725 | RAPSN | c.705C= (p.Ile235=) c.546C= (p.Ile182=) | |
11 | g.47441907G>T | CA474218478 | RAPSN | c.705C>A (p.Ile235=) c.546C>A (p.Ile182=) | gnomAD v4 |
11 | g.47441908A= | CA1969387726 | RAPSN | c.704T= (p.Ile235=) c.545T= (p.Ile182=) | |
11 | g.47441908A>C | CA380330500 | RAPSN | c.704T>G (p.Ile235Ser) c.545T>G (p.Ile182Ser) | |
11 | g.47441908A>G | CA380330505 | RAPSN | c.704T>C (p.Ile235Thr) c.545T>C (p.Ile182Thr) | dbSNP gnomAD v4 |
11 | g.47441908A>T | CA380330499 | RAPSN | c.704T>A (p.Ile235Asn) c.545T>A (p.Ile182Asn) | |
11 | g.47441909T>A | CA380330514 | RAPSN | c.703A>T (p.Ile235Phe) c.544A>T (p.Ile182Phe) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441909T>C | CA380330511 | RAPSN | c.703A>G (p.Ile235Val) c.544A>G (p.Ile182Val) | gnomAD v4 |
11 | g.47441909T>G | CA380330518 | RAPSN | c.703A>C (p.Ile235Leu) c.544A>C (p.Ile182Leu) | |
11 | g.47441909T= | CA1969387727 | RAPSN | c.703A= (p.Ile235=) c.544A= (p.Ile182=) | |
11 | g.47441910C>A | CA380330521 | RAPSN | c.702G>T (p.Lys234Asn) c.543G>T (p.Lys181Asn) | gnomAD v4 |
11 | g.47441910C>G | CA380330523 | RAPSN | c.702G>C (p.Lys234Asn) c.543G>C (p.Lys181Asn) | gnomAD v4 |
11 | g.47441910C>T | CA474218481 | RAPSN | c.702G>A (p.Lys234=) c.543G>A (p.Lys181=) | gnomAD v4 |
11 | g.47441911T>A | CA380330526 | RAPSN | c.701A>T (p.Lys234Met) c.542A>T (p.Lys181Met) | |
11 | g.47441911T>C | CA380330529 | RAPSN | c.701A>G (p.Lys234Arg) c.542A>G (p.Lys181Arg) | gnomAD v4 |
11 | g.47441911T>G | CA380330532 | RAPSN | c.701A>C (p.Lys234Thr) c.542A>C (p.Lys181Thr) | |
11 | g.47441912T>A | CA380330539 | RAPSN | c.700A>T (p.Lys234Ter) c.541A>T (p.Lys181Ter) | gnomAD v4 |
11 | g.47441912T>C | CA380330543 | RAPSN | c.700A>G (p.Lys234Glu) c.541A>G (p.Lys181Glu) | gnomAD v4 |
11 | g.47441912T>G | CA380330547 | RAPSN | c.700A>C (p.Lys234Gln) c.541A>C (p.Lys181Gln) | |
11 | g.47441913C>A | CA380330558 | RAPSN | c.699G>T (p.Met233Ile) c.540G>T (p.Met180Ile) | gnomAD v4 |
11 | g.47441913C>G | CA380330556 | RAPSN | c.699G>C (p.Met233Ile) c.540G>C (p.Met180Ile) | gnomAD v4 |
11 | g.47441913C>T | CA380330551 | RAPSN | c.699G>A (p.Met233Ile) c.540G>A (p.Met180Ile) | gnomAD v4 |
11 | g.47441914A= | CA1969387728 | RAPSN | c.698T= (p.Met233=) c.539T= (p.Met180=) | |
11 | g.47441914A>C | CA380330560 | RAPSN | c.698T>G (p.Met233Arg) c.539T>G (p.Met180Arg) | |
11 | g.47441914A>G | CA221716853 | RAPSN | c.698T>C (p.Met233Thr) c.539T>C (p.Met180Thr) | dbSNP gnomAD v4 |
11 | g.47441914A>T | CA380330565 | RAPSN | c.698T>A (p.Met233Lys) c.539T>A (p.Met180Lys) | gnomAD v4 |
11 | g.47441915T>A | CA380330569 | RAPSN | c.697A>T (p.Met233Leu) c.538A>T (p.Met180Leu) | gnomAD v4 |
11 | g.47441915T>C | CA5976662 | RAPSN | c.697A>G (p.Met233Val) c.538A>G (p.Met180Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441915T>G | CA380330573 | RAPSN | c.697A>C (p.Met233Leu) c.538A>C (p.Met180Leu) | |
11 | g.47441915T= | CA1969387729 | RAPSN | c.697A= (p.Met233=) c.538A= (p.Met180=) | |
11 | g.47441916A>C | CA474218497 | RAPSN | c.696T>G (p.Ser232=) c.537T>G (p.Ser179=) | |
11 | g.47441916A>G | CA474218498 | RAPSN | c.696T>C (p.Ser232=) c.537T>C (p.Ser179=) | gnomAD v4 |
11 | g.47441916A>T | CA474218501 | RAPSN | c.696T>A (p.Ser232=) c.537T>A (p.Ser179=) | |
11 | g.47441917G>A | CA380330576 | RAPSN | c.695C>T (p.Ser232Phe) c.536C>T (p.Ser179Phe) | |
11 | g.47441917G>C | CA380330582 | RAPSN | c.695C>G (p.Ser232Cys) c.536C>G (p.Ser179Cys) | gnomAD v4 |
11 | g.47441917G>T | CA380330580 | RAPSN | c.695C>A (p.Ser232Tyr) c.536C>A (p.Ser179Tyr) | gnomAD v4 |
11 | g.47441918A>C | CA380330587 | RAPSN | c.694T>G (p.Ser232Ala) c.535T>G (p.Ser179Ala) | |
11 | g.47441918A>G | CA380330601 | RAPSN | c.694T>C (p.Ser232Pro) c.535T>C (p.Ser179Pro) | |
11 | g.47441918A>T | CA380330605 | RAPSN | c.694T>A (p.Ser232Thr) c.535T>A (p.Ser179Thr) | gnomAD v4 |
11 | g.47441919C>A | CA380330608 | RAPSN | c.693G>T (p.Glu231Asp) c.534G>T (p.Glu178Asp) | gnomAD v4 |
11 | g.47441919C= | CA1969387730 | RAPSN | c.693G= (p.Glu231=) c.534G= (p.Glu178=) | |
11 | g.47441919C>G | CA380330611 | RAPSN | c.693G>C (p.Glu231Asp) c.534G>C (p.Glu178Asp) | gnomAD v4 |
11 | g.47441919C>T | CA474218511 | RAPSN | c.693G>A (p.Glu231=) c.534G>A (p.Glu178=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441920T>A | CA380330617 | RAPSN | c.692A>T (p.Glu231Val) c.533A>T (p.Glu178Val) | COSMIC |
11 | g.47441920T>C | CA380330623 | RAPSN | c.692A>G (p.Glu231Gly) c.533A>G (p.Glu178Gly) | |
11 | g.47441920T>G | CA380330626 | RAPSN | c.692A>C (p.Glu231Ala) c.533A>C (p.Glu178Ala) | |
11 | g.47441921C>A | CA380330629 | RAPSN | c.691G>T (p.Glu231Ter) c.532G>T (p.Glu178Ter) | gnomAD v4 |
11 | g.47441921C>G | CA380330630 | RAPSN | c.691G>C (p.Glu231Gln) c.532G>C (p.Glu178Gln) | |
11 | g.47441921C>T | CA380330631 | RAPSN | c.691G>A (p.Glu231Lys) c.532G>A (p.Glu178Lys) | gnomAD v3 gnomAD v4 |
11 | g.47441922C>A | CA380330632 | RAPSN | c.691-1G>T (n.691-1G>T) c.532-1G>T (n.532-1G>T) | dbSNP gnomAD v4 |
11 | g.47441922C= | CA1969387731 | RAPSN | c.691-1G= (n.691-1G=) c.532-1G= (n.532-1G=) | |
11 | g.47441922C>G | CA380330636 | RAPSN | c.691-1G>C (n.691-1G>C) c.532-1G>C (n.532-1G>C) | gnomAD v4 |
11 | g.47441922C>T | CA380330635 | RAPSN | c.691-1G>A (n.691-1G>A) c.532-1G>A (n.532-1G>A) | ClinVar |
11 | g.47441923T>A | CA380330639 | RAPSN | c.691-2A>T (n.691-2A>T) c.532-2A>T (n.532-2A>T) | gnomAD v4 |
11 | g.47441923T>C | CA380330640 | RAPSN | c.691-2A>G (n.691-2A>G) c.532-2A>G (n.532-2A>G) | gnomAD v4 |
11 | g.47441923T>G | CA380330642 | RAPSN | c.691-2A>C (n.691-2A>C) c.532-2A>C (n.532-2A>C) | |
11 | g.47441924G>A | CA2613404152 | RAPSN | c.691-3C>T (n.691-3C>T) c.532-3C>T (n.532-3C>T) | gnomAD v4 |
11 | g.47441924G= | CA1969387732 | RAPSN | c.691-3C= (n.691-3C=) c.532-3C= (n.532-3C=) | |
11 | g.47441924G>T | CA599374855 | RAPSN | c.691-3C>A (n.691-3C>A) c.532-3C>A (n.532-3C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441925_47441926del | CA2613404148 | RAPSN | c.691-4_691-3del (n.691-4_691-3del) c.532-4_532-3del (n.532-4_532-3del) | gnomAD v4 |
11 | g.47441924_47441950delinsGCGAGGGAGGCCAGTGGCTCAGGCCTA | CA1969387733 | RAPSN | c.691-29_691-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC (n.691-29_691-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC) c.532-29_532-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC (n.532-29_532-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC) | |
11 | g.47441925C>A | CA10638749 | RAPSN | c.691-4G>T (n.691-4G>T) c.532-4G>T (n.532-4G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441925C= | CA1969387734 | RAPSN | c.691-4G= (n.691-4G=) c.532-4G= (n.532-4G=) | |
11 | g.47441925C>G | CA2613404160 | RAPSN | c.691-4G>C (n.691-4G>C) c.532-4G>C (n.532-4G>C) | gnomAD v4 |
11 | g.47441925C>T | CA677010615 | RAPSN | c.691-4G>A (n.691-4G>A) c.532-4G>A (n.532-4G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441926_47441951del | CA937663907 | RAPSN | c.691-29_691-4del (n.691-29_691-4del) c.532-29_532-4del (n.532-29_532-4del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441926G>A | CA599374856 | RAPSN | c.691-5C>T (n.691-5C>T) c.532-5C>T (n.532-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441926G= | CA1969387735 | RAPSN | c.691-5C= (n.691-5C=) c.532-5C= (n.532-5C=) | |
11 | g.47441926G>T | CA599374857 | RAPSN | c.691-5C>A (n.691-5C>A) c.532-5C>A (n.532-5C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441927A>G | CA2613404173 | RAPSN | c.691-6T>C (n.691-6T>C) c.532-6T>C (n.532-6T>C) | gnomAD v4 |
11 | g.47441927A>T | CA2613404179 | RAPSN | c.691-6T>A (n.691-6T>A) c.532-6T>A (n.532-6T>A) | gnomAD v4 |
11 | g.47441927_47441928delinsAG | CA1969387736 | RAPSN | c.691-7_691-6delinsCT (n.691-7_691-6delinsCT) c.532-7_532-6delinsCT (n.532-7_532-6delinsCT) | |
11 | g.47441928G>T | CA2573147335 | RAPSN | c.691-7C>A (n.691-7C>A) c.532-7C>A (n.532-7C>A) | ClinVar dbSNP gnomAD v4 |
11 | g.47441930del | CA5976663 | RAPSN | c.691-7del (n.691-7del) c.532-7del (n.532-7del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441929G>A | CA599374859 | RAPSN | c.691-8C>T (n.691-8C>T) c.532-8C>T (n.532-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441929G= | CA1969387737 | RAPSN | c.691-8C= (n.691-8C=) c.532-8C= (n.532-8C=) | |
11 | g.47441929G>T | CA2613404198 | RAPSN | c.691-8C>A (n.691-8C>A) c.532-8C>A (n.532-8C>A) | gnomAD v4 |
11 | g.47441930G>A | CA1969387740 | RAPSN | c.691-9C>T (n.691-9C>T) c.532-9C>T (n.532-9C>T) | dbSNP |
11 | g.47441930G>C | CA2613404204 | RAPSN | c.691-9C>G (n.691-9C>G) c.532-9C>G (n.532-9C>G) | gnomAD v4 |
11 | g.47441930G= | CA1969387739 | RAPSN | c.691-9C= (n.691-9C=) c.532-9C= (n.532-9C=) | |
11 | g.47441930G>T | CA2613404205 | RAPSN | c.691-9C>A (n.691-9C>A) c.532-9C>A (n.532-9C>A) | gnomAD v4 |
11 | g.47441930_47441931delinsGA | CA1969387738 | RAPSN | c.691-10_691-9delinsTC (n.691-10_691-9delinsTC) c.532-10_532-9delinsTC (n.532-10_532-9delinsTC) | |
11 | g.47441931del | CA599374860 | RAPSN | c.691-10del (n.691-10del) c.532-10del (n.532-10del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441931A= | CA2742038533 | RAPSN | c.691-10T= (n.691-10T=) c.532-10T= (n.532-10T=) | |
11 | g.47441931_47441932delinsAG | CA1969387742 | RAPSN | c.691-11_691-10delinsCT (n.691-11_691-10delinsCT) c.532-11_532-10delinsCT (n.532-11_532-10delinsCT) | |
11 | g.47441931_47441933delinsAGG | CA1969387741 | RAPSN | c.691-12_691-10delinsCCT (n.691-12_691-10delinsCCT) c.532-12_532-10delinsCCT (n.532-12_532-10delinsCCT) | |
11 | g.47441932G>A | CA5976664 | RAPSN | c.691-11C>T (n.691-11C>T) c.532-11C>T (n.532-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47441932G= | CA1969387744 | RAPSN | c.691-11C= (n.691-11C=) c.532-11C= (n.532-11C=) | |
11 | g.47441932G>T | CA2613404218 | RAPSN | c.691-11C>A (n.691-11C>A) c.532-11C>A (n.532-11C>A) | gnomAD v4 |
11 | g.47441932_47441933del | CA1969387743 | RAPSN | c.691-12_691-11del (n.691-12_691-11del) c.532-12_532-11del (n.532-12_532-11del) | dbSNP |
11 | g.47441933dup | CA2723698812 | RAPSN | c.691-11dup (n.691-11dup) c.532-11dup (n.532-11dup) | dbSNP |
11 | g.47441933del | CA202775 | RAPSN | c.691-11del (n.691-11del) c.532-11del (n.532-11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441933G>A | CA2613404225 | RAPSN | c.691-12C>T (n.691-12C>T) c.532-12C>T (n.532-12C>T) | gnomAD v4 |
11 | g.47441933G>C | CA221716889 | RAPSN | c.691-12C>G (n.691-12C>G) c.532-12C>G (n.532-12C>G) | dbSNP gnomAD v2 |
11 | g.47441933G= | CA1969387745 | RAPSN | c.691-12C= (n.691-12C=) c.532-12C= (n.532-12C=) | |
11 | g.47441933G>T | CA2613404226 | RAPSN | c.691-12C>A (n.691-12C>A) c.532-12C>A (n.532-12C>A) | gnomAD v4 |
11 | g.47441934C>A | CA599374861 | RAPSN | c.691-13G>T (n.691-13G>T) c.532-13G>T (n.532-13G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441934C= | CA1969387746 | RAPSN | c.691-13G= (n.691-13G=) c.532-13G= (n.532-13G=) | |
11 | g.47441934C>T | CA1969387747 | RAPSN | c.691-13G>A (n.691-13G>A) c.532-13G>A (n.532-13G>A) | dbSNP gnomAD v4 |
11 | g.47441935C>A | CA654208815 | RAPSN | c.691-14G>T (n.691-14G>T) c.532-14G>T (n.532-14G>T) | gnomAD v4 COSMIC |
11 | g.47441935C>T | CA2613404241 | RAPSN | c.691-14G>A (n.691-14G>A) c.532-14G>A (n.532-14G>A) | gnomAD v4 |
11 | g.47441936A>G | CA2613404244 | RAPSN | c.691-15T>C (n.691-15T>C) c.532-15T>C (n.532-15T>C) | gnomAD v4 |
11 | g.47441936A>T | CA2613404245 | RAPSN | c.691-15T>A (n.691-15T>A) c.532-15T>A (n.532-15T>A) | gnomAD v4 |
11 | g.47441937G>A | CA599374862 | RAPSN | c.691-16C>T (n.691-16C>T) c.532-16C>T (n.532-16C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441937G>C | CA2574817153 | RAPSN | c.691-16C>G (n.691-16C>G) c.532-16C>G (n.532-16C>G) | ClinVar gnomAD v4 |
11 | g.47441937G= | CA1969387748 | RAPSN | c.691-16C= (n.691-16C=) c.532-16C= (n.532-16C=) | |
11 | g.47441937G>T | CA2613404247 | RAPSN | c.691-16C>A (n.691-16C>A) c.532-16C>A (n.532-16C>A) | gnomAD v4 |
11 | g.47441938T>A | CA2613404252 | RAPSN | c.691-17A>T (n.691-17A>T) c.532-17A>T (n.532-17A>T) | gnomAD v4 |
11 | g.47441939G>A | CA2613404255 | RAPSN | c.691-18C>T (n.691-18C>T) c.532-18C>T (n.532-18C>T) | gnomAD v4 |
11 | g.47441939G>T | CA2613404254 | RAPSN | c.691-18C>A (n.691-18C>A) c.532-18C>A (n.532-18C>A) | gnomAD v4 |
11 | g.47441940G>A | CA2613404258 | RAPSN | c.691-19C>T (n.691-19C>T) c.532-19C>T (n.532-19C>T) | gnomAD v4 |
11 | g.47441940G= | CA1969387749 | RAPSN | c.691-19C= (n.691-19C=) c.532-19C= (n.532-19C=) | |
11 | g.47441940G>T | CA599374863 | RAPSN | c.691-19C>A (n.691-19C>A) c.532-19C>A (n.532-19C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441941C>A | CA599374864 | RAPSN | c.691-20G>T (n.691-20G>T) c.532-20G>T (n.532-20G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441941C= | CA1969387750 | RAPSN | c.691-20G= (n.691-20G=) c.532-20G= (n.532-20G=) | |
11 | g.47441941C>T | CA2574817154 | RAPSN | c.691-20G>A (n.691-20G>A) c.532-20G>A (n.532-20G>A) | ClinVar gnomAD v4 |
11 | g.47441941_47441942insAGAGGAG | CA2613404266 | RAPSN | c.691-21_691-20insCTCCTCT (n.691-21_691-20insCTCCTCT) c.532-21_532-20insCTCCTCT (n.532-21_532-20insCTCCTCT) | gnomAD v4 |
11 | g.47441942T>C | CA2613404268 | RAPSN | c.691-21A>G (n.691-21A>G) c.532-21A>G (n.532-21A>G) | gnomAD v4 |
11 | g.47441942T>G | CA1969387752 | RAPSN | c.691-21A>C (n.691-21A>C) c.532-21A>C (n.532-21A>C) | dbSNP |
11 | g.47441942T= | CA1969387751 | RAPSN | c.691-21A= (n.691-21A=) c.532-21A= (n.532-21A=) | |
11 | g.47441943del | CA2613404273 | RAPSN | c.691-22del (n.691-22del) c.532-22del (n.532-22del) | gnomAD v4 |
11 | g.47441943C>A | CA2613404272 | RAPSN | c.691-22G>T (n.691-22G>T) c.532-22G>T (n.532-22G>T) | gnomAD v4 |
11 | g.47441943C>T | CA2613404271 | RAPSN | c.691-22G>A (n.691-22G>A) c.532-22G>A (n.532-22G>A) | gnomAD v4 |
11 | g.47441944A= | CA1969387753 | RAPSN | c.691-23T= (n.691-23T=) c.532-23T= (n.532-23T=) | |
11 | g.47441944A>C | CA1969387754 | RAPSN | c.691-23T>G (n.691-23T>G) c.532-23T>G (n.532-23T>G) | dbSNP |
11 | g.47441944A>G | CA2613404276 | RAPSN | c.691-23T>C (n.691-23T>C) c.532-23T>C (n.532-23T>C) | gnomAD v4 |
11 | g.47441945G>A | CA5976665 | RAPSN | c.691-24C>T (n.691-24C>T) c.532-24C>T (n.532-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441945G>C | CA2613404279 | RAPSN | c.691-24C>G (n.691-24C>G) c.532-24C>G (n.532-24C>G) | gnomAD v4 |
11 | g.47441945G= | CA1969387755 | RAPSN | c.691-24C= (n.691-24C=) c.532-24C= (n.532-24C=) | |
11 | g.47441945G>T | CA2613404286 | RAPSN | c.691-24C>A (n.691-24C>A) c.532-24C>A (n.532-24C>A) | gnomAD v4 |
11 | g.47441946G>A | CA2613404289 | RAPSN | c.691-25C>T (n.691-25C>T) c.532-25C>T (n.532-25C>T) | gnomAD v4 |
11 | g.47441946G>T | CA2613404290 | RAPSN | c.691-25C>A (n.691-25C>A) c.532-25C>A (n.532-25C>A) | gnomAD v4 |
11 | g.47441947C>A | CA2613404319 | RAPSN | c.691-26G>T (n.691-26G>T) c.532-26G>T (n.532-26G>T) | gnomAD v4 |
11 | g.47441947C= | CA1969387756 | RAPSN | c.691-26G= (n.691-26G=) c.532-26G= (n.532-26G=) | |
11 | g.47441947C>T | CA599374865 | RAPSN | c.691-26G>A (n.691-26G>A) c.532-26G>A (n.532-26G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441948del | CA2613404293 | RAPSN | c.691-26del (n.691-26del) c.532-26del (n.532-26del) | gnomAD v4 |
11 | g.47441948C>A | CA2613404323 | RAPSN | c.691-27G>T (n.691-27G>T) c.532-27G>T (n.532-27G>T) | gnomAD v4 |
11 | g.47441948C>T | CA2613404332 | RAPSN | c.691-27G>A (n.691-27G>A) c.532-27G>A (n.532-27G>A) | gnomAD v4 |
11 | g.47441950_47441957del | CA2613404322 | RAPSN | c.691-34_691-27del (n.691-34_691-27del) c.532-34_532-27del (n.532-34_532-27del) | gnomAD v4 |
11 | g.47441949T>C | CA2613404336 | RAPSN | c.691-28A>G (n.691-28A>G) c.532-28A>G (n.532-28A>G) | gnomAD v4 |
11 | g.47441949T>G | CA2613404337 | RAPSN | c.691-28A>C (n.691-28A>C) c.532-28A>C (n.532-28A>C) | gnomAD v4 |
11 | g.47441950A>G | CA2613404339 | RAPSN | c.691-29T>C (n.691-29T>C) c.532-29T>C (n.532-29T>C) | gnomAD v4 |
11 | g.47441950A>T | CA2613404355 | RAPSN | c.691-29T>A (n.691-29T>A) c.532-29T>A (n.532-29T>A) | gnomAD v4 |
11 | g.47441951C>A | CA2613404356 | RAPSN | c.691-30G>T (n.691-30G>T) c.532-30G>T (n.532-30G>T) | gnomAD v4 |
11 | g.47441951C>T | CA2613404358 | RAPSN | c.691-30G>A (n.691-30G>A) c.532-30G>A (n.532-30G>A) | gnomAD v4 |
11 | g.47441952T>A | CA2613404369 | RAPSN | c.691-31A>T (n.691-31A>T) c.532-31A>T (n.532-31A>T) | gnomAD v4 |
11 | g.47441953C>A | CA2613404373 | RAPSN | c.691-32G>T (n.691-32G>T) c.532-32G>T (n.532-32G>T) | gnomAD v4 |
11 | g.47441954C>A | CA2613404379 | RAPSN | c.691-33G>T (n.691-33G>T) c.532-33G>T (n.532-33G>T) | gnomAD v4 |
11 | g.47441954C= | CA1969387757 | RAPSN | c.691-33G= (n.691-33G=) c.532-33G= (n.532-33G=) | |
11 | g.47441954C>T | CA221716893 | RAPSN | c.691-33G>A (n.691-33G>A) c.532-33G>A (n.532-33G>A) | dbSNP gnomAD v4 |
11 | g.47441954_47441955insAGTGGTGGTGGCAGAGGAG | CA2613404391 | RAPSN | c.691-34_691-33insCTCCTCTGCCACCACCACT (n.691-34_691-33insCTCCTCTGCCACCACCACT) c.532-34_532-33insCTCCTCTGCCACCACCACT (n.532-34_532-33insCTCCTCTGCCACCACCACT) | gnomAD v4 |
11 | g.47441955T>C | CA2613404390 | RAPSN | c.691-34A>G (n.691-34A>G) c.532-34A>G (n.532-34A>G) | gnomAD v4 |
11 | g.47441956C>A | CA2613404392 | RAPSN | c.691-35G>T (n.691-35G>T) c.532-35G>T (n.532-35G>T) | gnomAD v4 |
11 | g.47441956C= | CA1969387758 | RAPSN | c.691-35G= (n.691-35G=) c.532-35G= (n.532-35G=) | |
11 | g.47441956C>T | CA677010656 | RAPSN | c.691-35G>A (n.691-35G>A) c.532-35G>A (n.532-35G>A) | dbSNP gnomAD v4 |
11 | g.47441957T>G | CA2613404395 | RAPSN | c.691-36A>C (n.691-36A>C) c.532-36A>C (n.532-36A>C) | gnomAD v4 |
11 | g.47441958G>A | CA599374866 | RAPSN | c.691-37C>T (n.691-37C>T) c.532-37C>T (n.532-37C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441958G= | CA1969387759 | RAPSN | c.691-37C= (n.691-37C=) c.532-37C= (n.532-37C=) | |
11 | g.47441958G>T | CA2613404397 | RAPSN | c.691-37C>A (n.691-37C>A) c.532-37C>A (n.532-37C>A) | gnomAD v4 |
11 | g.47441959C>A | CA2613404401 | RAPSN | c.691-38G>T (n.691-38G>T) c.532-38G>T (n.532-38G>T) | gnomAD v4 |
11 | g.47441959C= | CA1969387761 | RAPSN | c.691-38G= (n.691-38G=) c.532-38G= (n.532-38G=) | |
11 | g.47441959C>T | CA599374867 | RAPSN | c.691-38G>A (n.691-38G>A) c.532-38G>A (n.532-38G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441960dup | CA1969387760 | RAPSN | c.691-38dup (n.691-38dup) c.532-38dup (n.532-38dup) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441959_47441963del | CA2613404402 | RAPSN | c.691-42_691-38del (n.691-42_691-38del) c.532-42_532-38del (n.532-42_532-38del) | gnomAD v4 |
11 | g.47441960C>A | CA2613404404 | RAPSN | c.691-39G>T (n.691-39G>T) c.532-39G>T (n.532-39G>T) | gnomAD v4 |
11 | g.47441961A>G | CA2613404406 | RAPSN | c.691-40T>C (n.691-40T>C) c.532-40T>C (n.532-40T>C) | gnomAD v4 |
11 | g.47441961A>T | CA2613404405 | RAPSN | c.691-40T>A (n.691-40T>A) c.532-40T>A (n.532-40T>A) | gnomAD v4 |
11 | g.47441962C>A | CA2613404407 | RAPSN | c.691-41G>T (n.691-41G>T) c.532-41G>T (n.532-41G>T) | gnomAD v4 |
11 | g.47441962C>T | CA2613404410 | RAPSN | c.691-41G>A (n.691-41G>A) c.532-41G>A (n.532-41G>A) | gnomAD v4 |
11 | g.47441963del | CA2613404408 | RAPSN | c.691-41del (n.691-41del) c.532-41del (n.532-41del) | gnomAD v4 |
11 | g.47441963C>A | CA2613404411 | RAPSN | c.691-42G>T (n.691-42G>T) c.532-42G>T (n.532-42G>T) | gnomAD v4 |
11 | g.47441964_47441965insG | CA2613404412 | RAPSN | c.691-44_691-43insC (n.691-44_691-43insC) c.532-44_532-43insC (n.532-44_532-43insC) | gnomAD v4 |
11 | g.47441965C>A | CA2613404414 | RAPSN | c.691-44G>T (n.691-44G>T) c.532-44G>T (n.532-44G>T) | gnomAD v4 |
11 | g.47441965C= | CA1969387762 | RAPSN | c.691-44G= (n.691-44G=) c.532-44G= (n.532-44G=) | |
11 | g.47441965C>T | CA221716904 | RAPSN | c.691-44G>A (n.691-44G>A) c.532-44G>A (n.532-44G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441966C>A | CA2613404416 | RAPSN | c.691-45G>T (n.691-45G>T) c.532-45G>T (n.532-45G>T) | gnomAD v4 |
11 | g.47441966C>T | CA2613404417 | RAPSN | c.691-45G>A (n.691-45G>A) c.532-45G>A (n.532-45G>A) | gnomAD v4 |
11 | g.47441967A= | CA1969387764 | RAPSN | c.691-46T= (n.691-46T=) c.532-46T= (n.532-46T=) | |
11 | g.47441967A>G | CA1969387763 | RAPSN | c.691-46T>C (n.691-46T>C) c.532-46T>C (n.532-46T>C) | dbSNP |
11 | g.47441967A>T | CA599374868 | RAPSN | c.691-46T>A (n.691-46T>A) c.532-46T>A (n.532-46T>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441968C= | CA1969387765 | RAPSN | c.691-47G= (n.691-47G=) c.532-47G= (n.532-47G=) | |
11 | g.47441968C>T | CA599374869 | RAPSN | c.691-47G>A (n.691-47G>A) c.532-47G>A (n.532-47G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47441969T>A | CA2613404438 | RAPSN | c.691-48A>T (n.691-48A>T) c.532-48A>T (n.532-48A>T) | gnomAD v4 |
11 | g.47441969T>C | CA2613404440 | RAPSN | c.691-48A>G (n.691-48A>G) c.532-48A>G (n.532-48A>G) | gnomAD v4 |
11 | g.47441969T>G | CA937663918 | RAPSN | c.691-48A>C (n.691-48A>C) c.532-48A>C (n.532-48A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441969T= | CA1969387766 | RAPSN | c.691-48A= (n.691-48A=) c.532-48A= (n.532-48A=) | |
11 | g.47441970G>A | CA1969387768 | RAPSN | c.691-49C>T (n.691-49C>T) c.532-49C>T (n.532-49C>T) | dbSNP gnomAD v4 |
11 | g.47441970G= | CA1969387767 | RAPSN | c.691-49C= (n.691-49C=) c.532-49C= (n.532-49C=) | |
11 | g.47441970G>T | CA2613404446 | RAPSN | c.691-49C>A (n.691-49C>A) c.532-49C>A (n.532-49C>A) | gnomAD v4 |
11 | g.47441971G>T | CA2613404488 | RAPSN | c.691-50C>A (n.691-50C>A) c.532-50C>A (n.532-50C>A) | gnomAD v4 |
11 | g.47441973G= | CA1969387769 | RAPSN | c.691-52C= (n.691-52C=) c.532-52C= (n.532-52C=) | |
11 | g.47441973G>T | CA599374870 | RAPSN | c.691-52C>A (n.691-52C>A) c.532-52C>A (n.532-52C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441974T>A | CA2574817155 | RAPSN | c.691-53A>T (n.691-53A>T) c.532-53A>T (n.532-53A>T) | |
11 | g.47441975G>A | CA1969387771 | RAPSN | c.691-54C>T (n.691-54C>T) c.532-54C>T (n.532-54C>T) | dbSNP gnomAD v4 |
11 | g.47441975G= | CA1969387770 | RAPSN | c.691-54C= (n.691-54C=) c.532-54C= (n.532-54C=) | |
11 | g.47441975G>T | CA2613404492 | RAPSN | c.691-54C>A (n.691-54C>A) c.532-54C>A (n.532-54C>A) | gnomAD v4 |
11 | g.47441976C>A | CA2613404493 | RAPSN | c.691-55G>T (n.691-55G>T) c.532-55G>T (n.532-55G>T) | gnomAD v4 |
11 | g.47441976C>T | CA2574817156 | RAPSN | c.691-55G>A (n.691-55G>A) c.532-55G>A (n.532-55G>A) | gnomAD v4 |
11 | g.47441977C>A | CA2613404496 | RAPSN | c.691-56G>T (n.691-56G>T) c.532-56G>T (n.532-56G>T) | gnomAD v4 |
11 | g.47441977C>T | CA2613404497 | RAPSN | c.691-56G>A (n.691-56G>A) c.532-56G>A (n.532-56G>A) | gnomAD v4 |
11 | g.47441978C>T | CA2613404498 | RAPSN | c.691-57G>A (n.691-57G>A) c.532-57G>A (n.532-57G>A) | gnomAD v4 |
11 | g.47441979T>C | CA2613404501 | RAPSN | c.691-58A>G (n.691-58A>G) c.532-58A>G (n.532-58A>G) | gnomAD v4 |
11 | g.47441979T>G | CA677010675 | RAPSN | c.691-58A>C (n.691-58A>C) c.532-58A>C (n.532-58A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441979T= | CA1969387772 | RAPSN | c.691-58A= (n.691-58A=) c.532-58A= (n.532-58A=) | |
11 | g.47441980C= | CA1969387773 | RAPSN | c.691-59G= (n.691-59G=) c.532-59G= (n.532-59G=) | |
11 | g.47441980C>G | CA1969387774 | RAPSN | c.691-59G>C (n.691-59G>C) c.532-59G>C (n.532-59G>C) | dbSNP |
11 | g.47441980C>T | CA221716918 | RAPSN | c.691-59G>A (n.691-59G>A) c.532-59G>A (n.532-59G>A) | dbSNP gnomAD v4 |
11 | g.47441981C>A | CA2574817157 | RAPSN | c.691-60G>T (n.691-60G>T) c.532-60G>T (n.532-60G>T) | gnomAD v4 |
11 | g.47441981C= | CA1969387775 | RAPSN | c.691-60G= (n.691-60G=) c.532-60G= (n.532-60G=) | |
11 | g.47441981C>T | CA937663926 | RAPSN | c.691-60G>A (n.691-60G>A) c.532-60G>A (n.532-60G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47441982C>A | CA221716929 | RAPSN | c.691-61G>T (n.691-61G>T) c.532-61G>T (n.532-61G>T) | dbSNP gnomAD v4 |
11 | g.47441982C= | CA1969387776 | RAPSN | c.691-61G= (n.691-61G=) c.532-61G= (n.532-61G=) | |
11 | g.47441982C>T | CA2613404518 | RAPSN | c.691-61G>A (n.691-61G>A) c.532-61G>A (n.532-61G>A) | gnomAD v4 |
11 | g.47441983C>T | CA2613404526 | RAPSN | c.691-62G>A (n.691-62G>A) c.532-62G>A (n.532-62G>A) | gnomAD v4 |
11 | g.47441984T>A | CA2613404530 | RAPSN | c.691-63A>T (n.691-63A>T) c.532-63A>T (n.532-63A>T) | gnomAD v4 |
11 | g.47441984T>C | CA2613404534 | RAPSN | c.691-63A>G (n.691-63A>G) c.532-63A>G (n.532-63A>G) | gnomAD v4 |
11 | g.47441986A>C | CA2613404539 | RAPSN | c.691-65T>G (n.691-65T>G) c.532-65T>G (n.532-65T>G) | gnomAD v4 |
11 | g.47441987A>G | CA2613404543 | RAPSN | c.691-66T>C (n.691-66T>C) c.532-66T>C (n.532-66T>C) | gnomAD v4 |
11 | g.47441988C>A | CA1969387778 | RAPSN | c.691-67G>T (n.691-67G>T) c.532-67G>T (n.532-67G>T) | dbSNP |
11 | g.47441988C= | CA1969387777 | RAPSN | c.691-67G= (n.691-67G=) c.532-67G= (n.532-67G=) | |
11 | g.47441988C>T | CA2613404548 | RAPSN | c.691-67G>A (n.691-67G>A) c.532-67G>A (n.532-67G>A) | gnomAD v4 |
11 | g.47441989A= | CA1969387779 | RAPSN | c.691-68T= (n.691-68T=) c.532-68T= (n.532-68T=) | |
11 | g.47441989A>C | CA221716945 | RAPSN | c.691-68T>G (n.691-68T>G) c.532-68T>G (n.532-68T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441989A>G | CA2613404555 | RAPSN | c.691-68T>C (n.691-68T>C) c.532-68T>C (n.532-68T>C) | gnomAD v4 |
11 | g.47441989A>T | CA2613404557 | RAPSN | c.691-68T>A (n.691-68T>A) c.532-68T>A (n.532-68T>A) | gnomAD v4 |
11 | g.47441990G>T | CA2613404562 | RAPSN | c.691-69C>A (n.691-69C>A) c.532-69C>A (n.532-69C>A) | gnomAD v4 |
11 | g.47441991_47441992delinsAC | CA1969387780 | RAPSN | c.691-71_691-70delinsGT (n.691-71_691-70delinsGT) c.532-71_532-70delinsGT (n.532-71_532-70delinsGT) | |
11 | g.47441992C>A | CA2613404572 | RAPSN | c.691-71G>T (n.691-71G>T) c.532-71G>T (n.532-71G>T) | gnomAD v4 |
11 | g.47441992C>T | CA2613404571 | RAPSN | c.691-71G>A (n.691-71G>A) c.532-71G>A (n.532-71G>A) | gnomAD v4 |
11 | g.47441995del | CA599374871 | RAPSN | c.691-71del (n.691-71del) c.532-71del (n.532-71del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441993C= | CA1969387781 | RAPSN | c.691-72G= (n.691-72G=) c.532-72G= (n.532-72G=) | |
11 | g.47441993C>T | CA221716952 | RAPSN | c.691-72G>A (n.691-72G>A) c.532-72G>A (n.532-72G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47441994C>A | CA2613404580 | RAPSN | c.691-73G>T (n.691-73G>T) c.532-73G>T (n.532-73G>T) | gnomAD v4 |
11 | g.47441994C>T | CA2613404585 | RAPSN | c.691-73G>A (n.691-73G>A) c.532-73G>A (n.532-73G>A) | gnomAD v4 |
11 | g.47441995C>A | CA2613404592 | RAPSN | c.691-74G>T (n.691-74G>T) c.532-74G>T (n.532-74G>T) | gnomAD v4 |
11 | g.47441995C= | CA1969387782 | RAPSN | c.691-74G= (n.691-74G=) c.532-74G= (n.532-74G=) | |
11 | g.47441995C>G | CA1969387783 | RAPSN | c.691-74G>C (n.691-74G>C) c.532-74G>C (n.532-74G>C) | dbSNP |
11 | g.47441995C>T | CA2613404594 | RAPSN | c.691-74G>A (n.691-74G>A) c.532-74G>A (n.532-74G>A) | gnomAD v4 |
11 | g.47441997C>A | CA2613404598 | RAPSN | c.691-76G>T (n.691-76G>T) c.532-76G>T (n.532-76G>T) | gnomAD v4 |
11 | g.47441997C>T | CA2613404623 | RAPSN | c.691-76G>A (n.691-76G>A) c.532-76G>A (n.532-76G>A) | gnomAD v4 |