Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.18543002_18543006delinsAACTC | CA2353564494 | SEC23B | c.1512-17_1512-13delinsAACTC (n.1512-17_1512-13delinsAACTC) c.1458-17_1458-13delinsAACTC (n.1458-17_1458-13delinsAACTC) c.36-17_36-13delinsAACTC (n.36-17_36-13delinsAACTC) | |
20 | g.18543002_18543012delinsAACTCTGGAAT | CA2353564493 | SEC23B | c.1512-17_1512-7delinsAACTCTGGAAT (n.1512-17_1512-7delinsAACTCTGGAAT) c.1458-17_1458-7delinsAACTCTGGAAT (n.1458-17_1458-7delinsAACTCTGGAAT) c.36-17_36-7delinsAACTCTGGAAT (n.36-17_36-7delinsAACTCTGGAAT) | |
20 | g.18543003_18543005delinsACT | CA2353564497 | SEC23B | c.1512-16_1512-14delinsACT (n.1512-16_1512-14delinsACT) c.1458-16_1458-14delinsACT (n.1458-16_1458-14delinsACT) c.36-16_36-14delinsACT (n.36-16_36-14delinsACT) | |
20 | g.18543003_18543006del | CA634869162 | SEC23B | c.1512-16_1512-13del (n.1512-16_1512-13del) c.1458-16_1458-13del (n.1458-16_1458-13del) c.36-16_36-13del (n.36-16_36-13del) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.18543003_18543012del | CA2353564495 | SEC23B | c.1512-16_1512-7del (n.1512-16_1512-7del) c.1458-16_1458-7del (n.1458-16_1458-7del) c.36-16_36-7del (n.36-16_36-7del) | dbSNP |
20 | g.18543003_18543016delinsTGTTT | CA2695229330 | SEC23B | c.1512-16_1512-3delinsTGTTT (n.1512-16_1512-3delinsTGTTT) c.1458-16_1458-3delinsTGTTT (n.1458-16_1458-3delinsTGTTT) c.36-16_36-3delinsTGTTT (n.36-16_36-3delinsTGTTT) | |
20 | g.18543006_18543007del | CA1015929505 | SEC23B | c.1512-13_1512-12del (n.1512-13_1512-12del) c.1458-13_1458-12del (n.1458-13_1458-12del) c.36-13_36-12del (n.36-13_36-12del) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543005T>G | CA1015929506 | SEC23B | c.1512-14T>G (n.1512-14T>G) c.1458-14T>G (n.1458-14T>G) c.36-14T>G (n.36-14T>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543005T= | CA2353564499 | SEC23B | c.1512-14T= (n.1512-14T=) c.1458-14T= (n.1458-14T=) c.36-14T= (n.36-14T=) | |
20 | g.18543006C>G | CA2652043764 | SEC23B | c.1512-13C>G (n.1512-13C>G) c.1458-13C>G (n.1458-13C>G) c.36-13C>G (n.36-13C>G) | gnomAD v4 |
20 | g.18543008G>A | CA1015929526 | SEC23B | c.1512-11G>A (n.1512-11G>A) c.1458-11G>A (n.1458-11G>A) c.36-11G>A (n.36-11G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543008G= | CA2353564501 | SEC23B | c.1512-11G= (n.1512-11G=) c.1458-11G= (n.1458-11G=) c.36-11G= (n.36-11G=) | |
20 | g.18543008_18543011delinsGGAA | CA2353564500 | SEC23B | c.1512-11_1512-8delinsGGAA (n.1512-11_1512-8delinsGGAA) c.1458-11_1458-8delinsGGAA (n.1458-11_1458-8delinsGGAA) c.36-11_36-8delinsGGAA (n.36-11_36-8delinsGGAA) | |
20 | g.18543009G>C | CA2652043770 | SEC23B | c.1512-10G>C (n.1512-10G>C) c.1458-10G>C (n.1458-10G>C) c.36-10G>C (n.36-10G>C) | gnomAD v4 |
20 | g.18543009G= | CA2353564502 | SEC23B | c.1512-10G= (n.1512-10G=) c.1458-10G= (n.1458-10G=) c.36-10G= (n.36-10G=) | |
20 | g.18543009G>T | CA9778397 | SEC23B | c.1512-10G>T (n.1512-10G>T) c.1458-10G>T (n.1458-10G>T) c.36-10G>T (n.36-10G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543009_18543011del | CA634869165 | SEC23B | c.1512-10_1512-8del (n.1512-10_1512-8del) c.1458-10_1458-8del (n.1458-10_1458-8del) c.36-10_36-8del (n.36-10_36-8del) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.18543012T>A | CA2353564504 | SEC23B | c.1512-7T>A (n.1512-7T>A) c.1458-7T>A (n.1458-7T>A) c.36-7T>A (n.36-7T>A) | dbSNP |
20 | g.18543012T>C | CA9778398 | SEC23B | c.1512-7T>C (n.1512-7T>C) c.1458-7T>C (n.1458-7T>C) c.36-7T>C (n.36-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543012T= | CA2353564503 | SEC23B | c.1512-7T= (n.1512-7T=) c.1458-7T= (n.1458-7T=) c.36-7T= (n.36-7T=) | |
20 | g.18543013T>C | CA634869168 | SEC23B | c.1512-6T>C (n.1512-6T>C) c.1458-6T>C (n.1458-6T>C) c.36-6T>C (n.36-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.18543013T= | CA2353564505 | SEC23B | c.1512-6T= (n.1512-6T=) c.1458-6T= (n.1458-6T=) c.36-6T= (n.36-6T=) | |
20 | g.18543013_18543014delinsTG | CA2353564506 | SEC23B | c.1512-6_1512-5delinsTG (n.1512-6_1512-5delinsTG) c.1458-6_1458-5delinsTG (n.1458-6_1458-5delinsTG) c.36-6_36-5delinsTG (n.36-6_36-5delinsTG) | |
20 | g.18543014del | CA634869169 | SEC23B | c.1512-5del (n.1512-5del) c.1458-5del (n.1458-5del) c.36-5del (n.36-5del) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.18543014G>A | CA2740097044 | SEC23B | c.1512-5G>A (n.1512-5G>A) c.1458-5G>A (n.1458-5G>A) c.36-5G>A (n.36-5G>A) | ClinVar |
20 | g.18543015T>C | CA2577347662 | SEC23B | c.1512-4T>C (n.1512-4T>C) c.1458-4T>C (n.1458-4T>C) c.36-4T>C (n.36-4T>C) | |
20 | g.18543015_18543016delinsTC | CA2353564507 | SEC23B | c.1512-4_1512-3delinsTC (n.1512-4_1512-3delinsTC) c.1458-4_1458-3delinsTC (n.1458-4_1458-3delinsTC) c.36-4_36-3delinsTC (n.36-4_36-3delinsTC) | |
20 | g.18543016del | CA634869171 | SEC23B | c.1512-3del (n.1512-3del) c.1458-3del (n.1458-3del) c.36-3del (n.36-3del) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.18543017A= | CA2353564508 | SEC23B | c.1512-2A= (n.1512-2A=) c.1458-2A= (n.1458-2A=) c.36-2A= (n.36-2A=) | |
20 | g.18543017A>C | CA408363930 | SEC23B | c.1512-2A>C (n.1512-2A>C) c.1458-2A>C (n.1458-2A>C) c.36-2A>C (n.36-2A>C) | |
20 | g.18543017A>G | CA408363931 | SEC23B | c.1512-2A>G (n.1512-2A>G) c.1458-2A>G (n.1458-2A>G) c.36-2A>G (n.36-2A>G) | |
20 | g.18543017A>T | CA9778399 | SEC23B | c.1512-2A>T (n.1512-2A>T) c.1458-2A>T (n.1458-2A>T) c.36-2A>T (n.36-2A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543018G>A | CA408363932 | SEC23B | c.1512-1G>A (n.1512-1G>A) c.1458-1G>A (n.1458-1G>A) c.36-1G>A (n.36-1G>A) | |
20 | g.18543018G>C | CA408363933 | SEC23B | c.1512-1G>C (n.1512-1G>C) c.1458-1G>C (n.1458-1G>C) c.36-1G>C (n.36-1G>C) | |
20 | g.18543018G= | CA2353564509 | SEC23B | c.1512-1G= (n.1512-1G=) c.1458-1G= (n.1458-1G=) c.36-1G= (n.36-1G=) | |
20 | g.18543018G>T | CA9778400 | SEC23B | c.1512-1G>T (n.1512-1G>T) c.1458-1G>T (n.1458-1G>T) c.36-1G>T (n.36-1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543019T>A | CA408363934 | SEC23B | c.1512T>A (p.Asn504Lys) c.1458T>A (p.Asn486Lys) c.36T>A (p.Asn12Lys) | |
20 | g.18543019T>C | CA9778401 | SEC23B | c.1512T>C (p.Asn504=) c.1458T>C (p.Asn486=) c.36T>C (p.Asn12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543019T>G | CA408363935 | SEC23B | c.1512T>G (p.Asn504Lys) c.1458T>G (p.Asn486Lys) c.36T>G (p.Asn12Lys) | |
20 | g.18543019T= | CA2353564510 | SEC23B | c.1512T= (p.Asn504=) c.1458T= (p.Asn486=) c.36T= (p.Asn12=) | |
20 | g.18543020T>A | CA408363938 | SEC23B | c.1513T>A (p.Trp505Arg) c.1459T>A (p.Trp487Arg) c.37T>A (p.Trp13Arg) | |
20 | g.18543020T>C | CA408363936 | SEC23B | c.1513T>C (p.Trp505Arg) c.1459T>C (p.Trp487Arg) c.37T>C (p.Trp13Arg) | |
20 | g.18543020T>G | CA408363937 | SEC23B | c.1513T>G (p.Trp505Gly) c.1459T>G (p.Trp487Gly) c.37T>G (p.Trp13Gly) | dbSNP gnomAD v2 |
20 | g.18543020T= | CA2353564511 | SEC23B | c.1513T= (p.Trp505=) c.1459T= (p.Trp487=) c.37T= (p.Trp13=) | |
20 | g.18543021G>A | CA408363939 | SEC23B | c.1514G>A (p.Trp505Ter) c.1460G>A (p.Trp487Ter) c.38G>A (p.Trp13Ter) | |
20 | g.18543021G>C | CA408363940 | SEC23B | c.1514G>C (p.Trp505Ser) c.1460G>C (p.Trp487Ser) c.38G>C (p.Trp13Ser) | |
20 | g.18543021G>T | CA408363941 | SEC23B | c.1514G>T (p.Trp505Leu) c.1460G>T (p.Trp487Leu) c.38G>T (p.Trp13Leu) | |
20 | g.18543022G>A | CA408363942 | SEC23B | c.1515G>A (p.Trp505Ter) c.1461G>A (p.Trp487Ter) c.39G>A (p.Trp13Ter) | |
20 | g.18543022G>C | CA408363943 | SEC23B | c.1515G>C (p.Trp505Cys) c.1461G>C (p.Trp487Cys) c.39G>C (p.Trp13Cys) | |
20 | g.18543022G>T | CA408363944 | SEC23B | c.1515G>T (p.Trp505Cys) c.1461G>T (p.Trp487Cys) c.39G>T (p.Trp13Cys) | |
20 | g.18543023G>A | CA408363945 | SEC23B | c.1516G>A (p.Ala506Thr) c.1462G>A (p.Ala488Thr) c.40G>A (p.Ala14Thr) | |
20 | g.18543023G>C | CA408363946 | SEC23B | c.1516G>C (p.Ala506Pro) c.1462G>C (p.Ala488Pro) c.40G>C (p.Ala14Pro) | |
20 | g.18543023G= | CA2353564512 | SEC23B | c.1516G= (p.Ala506=) c.1462G= (p.Ala488=) c.40G= (p.Ala14=) | |
20 | g.18543023G>T | CA408363947 | SEC23B | c.1516G>T (p.Ala506Ser) c.1462G>T (p.Ala488Ser) c.40G>T (p.Ala14Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.18543024C>A | CA408363948 | SEC23B | c.1517C>A (p.Ala506Glu) c.1463C>A (p.Ala488Glu) c.41C>A (p.Ala14Glu) | |
20 | g.18543024C= | CA2353564513 | SEC23B | c.1517C= (p.Ala506=) c.1463C= (p.Ala488=) c.41C= (p.Ala14=) | |
20 | g.18543024C>G | CA408363949 | SEC23B | c.1517C>G (p.Ala506Gly) c.1463C>G (p.Ala488Gly) c.41C>G (p.Ala14Gly) | |
20 | g.18543024C>T | CA9778402 | SEC23B | c.1517C>T (p.Ala506Val) c.1463C>T (p.Ala488Val) c.41C>T (p.Ala14Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543025A>C | CA509829154 | SEC23B | c.1518A>C (p.Ala506=) c.1464A>C (p.Ala488=) c.42A>C (p.Ala14=) | |
20 | g.18543025A>G | CA509829155 | SEC23B | c.1518A>G (p.Ala506=) c.1464A>G (p.Ala488=) c.42A>G (p.Ala14=) | |
20 | g.18543025A>T | CA509829156 | SEC23B | c.1518A>T (p.Ala506=) c.1464A>T (p.Ala488=) c.42A>T (p.Ala14=) | |
20 | g.18543026G>A | CA9778403 | SEC23B | c.1519G>A (p.Asp507Asn) c.1465G>A (p.Asp489Asn) c.43G>A (p.Asp15Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543026G>C | CA408363951 | SEC23B | c.1519G>C (p.Asp507His) c.1465G>C (p.Asp489His) c.43G>C (p.Asp15His) | |
20 | g.18543026G= | CA2353564514 | SEC23B | c.1519G= (p.Asp507=) c.1465G= (p.Asp489=) c.43G= (p.Asp15=) | |
20 | g.18543026G>T | CA408363950 | SEC23B | c.1519G>T (p.Asp507Tyr) c.1465G>T (p.Asp489Tyr) c.43G>T (p.Asp15Tyr) | dbSNP gnomAD v4 |
20 | g.18543027A>C | CA408363954 | SEC23B | c.1520A>C (p.Asp507Ala) c.1466A>C (p.Asp489Ala) c.44A>C (p.Asp15Ala) | gnomAD v4 |
20 | g.18543027A>G | CA408363952 | SEC23B | c.1520A>G (p.Asp507Gly) c.1466A>G (p.Asp489Gly) c.44A>G (p.Asp15Gly) | gnomAD v4 |
20 | g.18543027A>T | CA408363953 | SEC23B | c.1520A>T (p.Asp507Val) c.1466A>T (p.Asp489Val) c.44A>T (p.Asp15Val) | |
20 | g.18543028T>A | CA408363955 | SEC23B | c.1521T>A (p.Asp507Glu) c.1467T>A (p.Asp489Glu) c.45T>A (p.Asp15Glu) | |
20 | g.18543028T>C | CA509829162 | SEC23B | c.1521T>C (p.Asp507=) c.1467T>C (p.Asp489=) c.45T>C (p.Asp15=) | ClinVar |
20 | g.18543028T>G | CA408363956 | SEC23B | c.1521T>G (p.Asp507Glu) c.1467T>G (p.Asp489Glu) c.45T>G (p.Asp15Glu) | |
20 | g.18543029G>A | CA312406912 | SEC23B | c.1522G>A (p.Val508Ile) c.1468G>A (p.Val490Ile) c.46G>A (p.Val16Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543029G>C | CA408363957 | SEC23B | c.1522G>C (p.Val508Leu) c.1468G>C (p.Val490Leu) c.46G>C (p.Val16Leu) | |
20 | g.18543029G= | CA2353564515 | SEC23B | c.1522G= (p.Val508=) c.1468G= (p.Val490=) c.46G= (p.Val16=) | |
20 | g.18543029G>T | CA9778404 | SEC23B | c.1522G>T (p.Val508Leu) c.1468G>T (p.Val490Leu) c.46G>T (p.Val16Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543030T>A | CA408363958 | SEC23B | c.1523T>A (p.Val508Glu) c.1469T>A (p.Val490Glu) c.47T>A (p.Val16Glu) | |
20 | g.18543030T>C | CA408363959 | SEC23B | c.1523T>C (p.Val508Ala) c.1469T>C (p.Val490Ala) c.47T>C (p.Val16Ala) | |
20 | g.18543030T>G | CA408363960 | SEC23B | c.1523T>G (p.Val508Gly) c.1469T>G (p.Val490Gly) c.47T>G (p.Val16Gly) | |
20 | g.18543031A>C | CA509829167 | SEC23B | c.1524A>C (p.Val508=) c.1470A>C (p.Val490=) c.48A>C (p.Val16=) | |
20 | g.18543031A>G | CA509829168 | SEC23B | c.1524A>G (p.Val508=) c.1470A>G (p.Val490=) c.48A>G (p.Val16=) | |
20 | g.18543031A>T | CA509829170 | SEC23B | c.1524A>T (p.Val508=) c.1470A>T (p.Val490=) c.48A>T (p.Val16=) | dbSNP |
20 | g.18543032C>A | CA408363961 | SEC23B | c.1525C>A (p.Gln509Lys) c.1471C>A (p.Gln491Lys) c.49C>A (p.Gln17Lys) | |
20 | g.18543032C= | CA2353564516 | SEC23B | c.1525C= (p.Gln509=) c.1471C= (p.Gln491=) c.49C= (p.Gln17=) | |
20 | g.18543032C>G | CA408363962 | SEC23B | c.1525C>G (p.Gln509Glu) c.1471C>G (p.Gln491Glu) c.49C>G (p.Gln17Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543032C>T | CA408363963 | SEC23B | c.1525C>T (p.Gln509Ter) c.1471C>T (p.Gln491Ter) c.49C>T (p.Gln17Ter) | |
20 | g.18543033A>C | CA408363966 | SEC23B | c.1526A>C (p.Gln509Pro) c.1472A>C (p.Gln491Pro) c.50A>C (p.Gln17Pro) | |
20 | g.18543033A>G | CA408363965 | SEC23B | c.1526A>G (p.Gln509Arg) c.1472A>G (p.Gln491Arg) c.50A>G (p.Gln17Arg) | |
20 | g.18543033A>T | CA408363964 | SEC23B | c.1526A>T (p.Gln509Leu) c.1472A>T (p.Gln491Leu) c.50A>T (p.Gln17Leu) | |
20 | g.18543034G>A | CA9778405 | SEC23B | c.1527G>A (p.Gln509=) c.1473G>A (p.Gln491=) c.51G>A (p.Gln17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543034G>C | CA408363967 | SEC23B | c.1527G>C (p.Gln509His) c.1473G>C (p.Gln491His) c.51G>C (p.Gln17His) | |
20 | g.18543034G= | CA2353564517 | SEC23B | c.1527G= (p.Gln509=) c.1473G= (p.Gln491=) c.51G= (p.Gln17=) | |
20 | g.18543034G>T | CA408363968 | SEC23B | c.1527G>T (p.Gln509His) c.1473G>T (p.Gln491His) c.51G>T (p.Gln17His) | |
20 | g.18543035A>C | CA408363969 | SEC23B | c.1528A>C (p.Ser510Arg) c.1474A>C (p.Ser492Arg) c.52A>C (p.Ser18Arg) | |
20 | g.18543035A>G | CA408363970 | SEC23B | c.1528A>G (p.Ser510Gly) c.1474A>G (p.Ser492Gly) c.52A>G (p.Ser18Gly) | |
20 | g.18543035A>T | CA408363971 | SEC23B | c.1528A>T (p.Ser510Cys) c.1474A>T (p.Ser492Cys) c.52A>T (p.Ser18Cys) | |
20 | g.18543036G>A | CA408363972 | SEC23B | c.1529G>A (p.Ser510Asn) c.1475G>A (p.Ser492Asn) c.53G>A (p.Ser18Asn) | gnomAD v4 COSMIC |
20 | g.18543036G>C | CA408363973 | SEC23B | c.1529G>C (p.Ser510Thr) c.1475G>C (p.Ser492Thr) c.53G>C (p.Ser18Thr) | |
20 | g.18543036G>T | CA408363974 | SEC23B | c.1529G>T (p.Ser510Ile) c.1475G>T (p.Ser492Ile) c.53G>T (p.Ser18Ile) | |
20 | g.18543037T>A | CA408363975 | SEC23B | c.1530T>A (p.Ser510Arg) c.1476T>A (p.Ser492Arg) c.54T>A (p.Ser18Arg) | |
20 | g.18543037T>C | CA509829184 | SEC23B | c.1530T>C (p.Ser510=) c.1476T>C (p.Ser492=) c.54T>C (p.Ser18=) | COSMIC |
20 | g.18543037T>G | CA408363976 | SEC23B | c.1530T>G (p.Ser510Arg) c.1476T>G (p.Ser492Arg) c.54T>G (p.Ser18Arg) | |
20 | g.18543038C>A | CA408363977 | SEC23B | c.1531C>A (p.Gln511Lys) c.1477C>A (p.Gln493Lys) c.55C>A (p.Gln19Lys) | |
20 | g.18543038C= | CA2353564518 | SEC23B | c.1531C= (p.Gln511=) c.1477C= (p.Gln493=) c.55C= (p.Gln19=) | |
20 | g.18543038C>G | CA408363978 | SEC23B | c.1531C>G (p.Gln511Glu) c.1477C>G (p.Gln493Glu) c.55C>G (p.Gln19Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543038C>T | CA408363979 | SEC23B | c.1531C>T (p.Gln511Ter) c.1477C>T (p.Gln493Ter) c.55C>T (p.Gln19Ter) | |
20 | g.18543039A= | CA2353564519 | SEC23B | c.1532A= (p.Gln511=) c.1478A= (p.Gln493=) c.56A= (p.Gln19=) | |
20 | g.18543039A>C | CA408363981 | SEC23B | c.1532A>C (p.Gln511Pro) c.1478A>C (p.Gln493Pro) c.56A>C (p.Gln19Pro) | |
20 | g.18543039A>G | CA408363982 | SEC23B | c.1532A>G (p.Gln511Arg) c.1478A>G (p.Gln493Arg) c.56A>G (p.Gln19Arg) | dbSNP |
20 | g.18543039A>T | CA408363980 | SEC23B | c.1532A>T (p.Gln511Leu) c.1478A>T (p.Gln493Leu) c.56A>T (p.Gln19Leu) | dbSNP |
20 | g.18543040G>A | CA312406920 | SEC23B | c.1533G>A (p.Gln511=) c.1479G>A (p.Gln493=) c.57G>A (p.Gln19=) | dbSNP gnomAD v4 |
20 | g.18543040G>C | CA408363983 | SEC23B | c.1533G>C (p.Gln511His) c.1479G>C (p.Gln493His) c.57G>C (p.Gln19His) | |
20 | g.18543040G= | CA2353564520 | SEC23B | c.1533G= (p.Gln511=) c.1479G= (p.Gln493=) c.57G= (p.Gln19=) | |
20 | g.18543040G>T | CA9778406 | SEC23B | c.1533G>T (p.Gln511His) c.1479G>T (p.Gln493His) c.57G>T (p.Gln19His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543041C>A | CA408363984 | SEC23B | c.1534C>A (p.Leu512Ile) c.1480C>A (p.Leu494Ile) c.58C>A (p.Leu20Ile) | |
20 | g.18543041C= | CA2353564521 | SEC23B | c.1534C= (p.Leu512=) c.1480C= (p.Leu494=) c.58C= (p.Leu20=) | |
20 | g.18543041C>G | CA408363985 | SEC23B | c.1534C>G (p.Leu512Val) c.1480C>G (p.Leu494Val) c.58C>G (p.Leu20Val) | |
20 | g.18543041C>T | CA408363986 | SEC23B | c.1534C>T (p.Leu512Phe) c.1480C>T (p.Leu494Phe) c.58C>T (p.Leu20Phe) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543042T>A | CA408363989 | SEC23B | c.1535T>A (p.Leu512His) c.1481T>A (p.Leu494His) c.59T>A (p.Leu20His) | |
20 | g.18543042T>C | CA408363987 | SEC23B | c.1535T>C (p.Leu512Pro) c.1481T>C (p.Leu494Pro) c.59T>C (p.Leu20Pro) | |
20 | g.18543042T>G | CA408363988 | SEC23B | c.1535T>G (p.Leu512Arg) c.1481T>G (p.Leu494Arg) c.59T>G (p.Leu20Arg) | |
20 | g.18543043C>A | CA312406931 | SEC23B | c.1536C>A (p.Leu512=) c.1482C>A (p.Leu494=) c.60C>A (p.Leu20=) | ClinVar dbSNP gnomAD v4 |
20 | g.18543043C= | CA2353564522 | SEC23B | c.1536C= (p.Leu512=) c.1482C= (p.Leu494=) c.60C= (p.Leu20=) | |
20 | g.18543043C>G | CA509829195 | SEC23B | c.1536C>G (p.Leu512=) c.1482C>G (p.Leu494=) c.60C>G (p.Leu20=) | gnomAD v4 |
20 | g.18543043C>T | CA509829196 | SEC23B | c.1536C>T (p.Leu512=) c.1482C>T (p.Leu494=) c.60C>T (p.Leu20=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543044A= | CA2353564523 | SEC23B | c.1537A= (p.Arg513=) c.1483A= (p.Arg495=) c.61A= (p.Arg21=) | |
20 | g.18543044A>C | CA509829198 | SEC23B | c.1537A>C (p.Arg513=) c.1483A>C (p.Arg495=) c.61A>C (p.Arg21=) | |
20 | g.18543044A>G | CA408363990 | SEC23B | c.1537A>G (p.Arg513Gly) c.1483A>G (p.Arg495Gly) c.61A>G (p.Arg21Gly) | gnomAD v4 |
20 | g.18543044A>T | CA312406932 | SEC23B | c.1537A>T (p.Arg513Trp) c.1483A>T (p.Arg495Trp) c.61A>T (p.Arg21Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543046_18543053dup | CA2652043825 | SEC23B | c.1539_1546dup (p.Glu516GlyfsTer3) c.1485_1492dup (p.Glu498GlyfsTer3) c.63_70dup (p.Glu24GlyfsTer3) | gnomAD v4 |
20 | g.18543045G>A | CA408363991 | SEC23B | c.1538G>A (p.Arg513Lys) c.1484G>A (p.Arg495Lys) c.62G>A (p.Arg21Lys) | |
20 | g.18543045G>C | CA408363992 | SEC23B | c.1538G>C (p.Arg513Thr) c.1484G>C (p.Arg495Thr) c.62G>C (p.Arg21Thr) | |
20 | g.18543045G>T | CA408363993 | SEC23B | c.1538G>T (p.Arg513Met) c.1484G>T (p.Arg495Met) c.62G>T (p.Arg21Met) | |
20 | g.18543046G>A | CA9778407 | SEC23B | c.1539G>A (p.Arg513=) c.1485G>A (p.Arg495=) c.63G>A (p.Arg21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543046G>C | CA408363995 | SEC23B | c.1539G>C (p.Arg513Ser) c.1485G>C (p.Arg495Ser) c.63G>C (p.Arg21Ser) | |
20 | g.18543046G= | CA2353564524 | SEC23B | c.1539G= (p.Arg513=) c.1485G= (p.Arg495=) c.63G= (p.Arg21=) | |
20 | g.18543046G>T | CA408363994 | SEC23B | c.1539G>T (p.Arg513Ser) c.1485G>T (p.Arg495Ser) c.63G>T (p.Arg21Ser) | |
20 | g.18543047C>A | CA408363996 | SEC23B | c.1540C>A (p.His514Asn) c.1486C>A (p.His496Asn) c.64C>A (p.His22Asn) | |
20 | g.18543047C>G | CA408363997 | SEC23B | c.1540C>G (p.His514Asp) c.1486C>G (p.His496Asp) c.64C>G (p.His22Asp) | |
20 | g.18543047C>T | CA408363998 | SEC23B | c.1540C>T (p.His514Tyr) c.1486C>T (p.His496Tyr) c.64C>T (p.His22Tyr) | gnomAD v4 |
20 | g.18543048A>C | CA408363999 | SEC23B | c.1541A>C (p.His514Pro) c.1487A>C (p.His496Pro) c.65A>C (p.His22Pro) | |
20 | g.18543048A>G | CA408364000 | SEC23B | c.1541A>G (p.His514Arg) c.1487A>G (p.His496Arg) c.65A>G (p.His22Arg) | |
20 | g.18543048A>T | CA408364001 | SEC23B | c.1541A>T (p.His514Leu) c.1487A>T (p.His496Leu) c.65A>T (p.His22Leu) | |
20 | g.18543049C>A | CA408364002 | SEC23B | c.1542C>A (p.His514Gln) c.1488C>A (p.His496Gln) c.66C>A (p.His22Gln) | |
20 | g.18543049C>G | CA408364003 | SEC23B | c.1542C>G (p.His514Gln) c.1488C>G (p.His496Gln) c.66C>G (p.His22Gln) | |
20 | g.18543049C>T | CA509829206 | SEC23B | c.1542C>T (p.His514=) c.1488C>T (p.His496=) c.66C>T (p.His22=) | COSMIC |
20 | g.18543050A= | CA2353564525 | SEC23B | c.1543A= (p.Ile515=) c.1489A= (p.Ile497=) c.67A= (p.Ile23=) | |
20 | g.18543050A>C | CA408364004 | SEC23B | c.1543A>C (p.Ile515Leu) c.1489A>C (p.Ile497Leu) c.67A>C (p.Ile23Leu) | |
20 | g.18543050A>G | CA9778408 | SEC23B | c.1543A>G (p.Ile515Val) c.1489A>G (p.Ile497Val) c.67A>G (p.Ile23Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543050A>T | CA408364005 | SEC23B | c.1543A>T (p.Ile515Leu) c.1489A>T (p.Ile497Leu) c.67A>T (p.Ile23Leu) | |
20 | g.18543051T>A | CA408364007 | SEC23B | c.1544T>A (p.Ile515Lys) c.1490T>A (p.Ile497Lys) c.68T>A (p.Ile23Lys) | |
20 | g.18543051T>C | CA408364008 | SEC23B | c.1544T>C (p.Ile515Thr) c.1490T>C (p.Ile497Thr) c.68T>C (p.Ile23Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.18543051T>G | CA408364006 | SEC23B | c.1544T>G (p.Ile515Arg) c.1490T>G (p.Ile497Arg) c.68T>G (p.Ile23Arg) | |
20 | g.18543051T= | CA2353564526 | SEC23B | c.1544T= (p.Ile515=) c.1490T= (p.Ile497=) c.68T= (p.Ile23=) | |
20 | g.18543052A>C | CA509829209 | SEC23B | c.1545A>C (p.Ile515=) c.1491A>C (p.Ile497=) c.69A>C (p.Ile23=) | |
20 | g.18543052A>G | CA408364009 | SEC23B | c.1545A>G (p.Ile515Met) c.1491A>G (p.Ile497Met) c.69A>G (p.Ile23Met) | |
20 | g.18543052A>T | CA509829212 | SEC23B | c.1545A>T (p.Ile515=) c.1491A>T (p.Ile497=) c.69A>T (p.Ile23=) | gnomAD v4 |
20 | g.18543053G>A | CA408364011 | SEC23B | c.1546G>A (p.Glu516Lys) c.1492G>A (p.Glu498Lys) c.70G>A (p.Glu24Lys) | |
20 | g.18543053G>C | CA408364010 | SEC23B | c.1546G>C (p.Glu516Gln) c.1492G>C (p.Glu498Gln) c.70G>C (p.Glu24Gln) | |
20 | g.18543053G>T | CA408364012 | SEC23B | c.1546G>T (p.Glu516Ter) c.1492G>T (p.Glu498Ter) c.70G>T (p.Glu24Ter) | |
20 | g.18543054A>C | CA408364013 | SEC23B | c.1547A>C (p.Glu516Ala) c.1493A>C (p.Glu498Ala) c.71A>C (p.Glu24Ala) | |
20 | g.18543054A>G | CA408364014 | SEC23B | c.1547A>G (p.Glu516Gly) c.1493A>G (p.Glu498Gly) c.71A>G (p.Glu24Gly) | |
20 | g.18543054A>T | CA408364015 | SEC23B | c.1547A>T (p.Glu516Val) c.1493A>T (p.Glu498Val) c.71A>T (p.Glu24Val) | |
20 | g.18543055A>C | CA408364016 | SEC23B | c.1548A>C (p.Glu516Asp) c.1494A>C (p.Glu498Asp) c.72A>C (p.Glu24Asp) | |
20 | g.18543055A>G | CA509829216 | SEC23B | c.1548A>G (p.Glu516=) c.1494A>G (p.Glu498=) c.72A>G (p.Glu24=) | |
20 | g.18543055A>T | CA408364017 | SEC23B | c.1548A>T (p.Glu516Asp) c.1494A>T (p.Glu498Asp) c.72A>T (p.Glu24Asp) | |
20 | g.18543056G>A | CA408364018 | SEC23B | c.1549G>A (p.Ala517Thr) c.1495G>A (p.Ala499Thr) c.73G>A (p.Ala25Thr) | |
20 | g.18543056G>C | CA408364019 | SEC23B | c.1549G>C (p.Ala517Pro) c.1495G>C (p.Ala499Pro) c.73G>C (p.Ala25Pro) | |
20 | g.18543056G>T | CA408364020 | SEC23B | c.1549G>T (p.Ala517Ser) c.1495G>T (p.Ala499Ser) c.73G>T (p.Ala25Ser) | gnomAD v4 |
20 | g.18543057C>A | CA408364021 | SEC23B | c.1550C>A (p.Ala517Glu) c.1496C>A (p.Ala499Glu) c.74C>A (p.Ala25Glu) | |
20 | g.18543057C>G | CA408364022 | SEC23B | c.1550C>G (p.Ala517Gly) c.1496C>G (p.Ala499Gly) c.74C>G (p.Ala25Gly) | |
20 | g.18543057C>T | CA408364023 | SEC23B | c.1550C>T (p.Ala517Val) c.1496C>T (p.Ala499Val) c.74C>T (p.Ala25Val) | |
20 | g.18543058A= | CA2353564527 | SEC23B | c.1551A= (p.Ala517=) c.1497A= (p.Ala499=) c.75A= (p.Ala25=) | |
20 | g.18543058A>C | CA509829220 | SEC23B | c.1551A>C (p.Ala517=) c.1497A>C (p.Ala499=) c.75A>C (p.Ala25=) | |
20 | g.18543058A>G | CA509829222 | SEC23B | c.1551A>G (p.Ala517=) c.1497A>G (p.Ala499=) c.75A>G (p.Ala25=) | |
20 | g.18543058A>T | CA509829221 | SEC23B | c.1551A>T (p.Ala517=) c.1497A>T (p.Ala499=) c.75A>T (p.Ala25=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543059G>A | CA312406938 | SEC23B | c.1552G>A (p.Ala518Thr) c.1498G>A (p.Ala500Thr) c.76G>A (p.Ala26Thr) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.18543059G>C | CA408364025 | SEC23B | c.1552G>C (p.Ala518Pro) c.1498G>C (p.Ala500Pro) c.76G>C (p.Ala26Pro) | |
20 | g.18543059G= | CA2353564528 | SEC23B | c.1552G= (p.Ala518=) c.1498G= (p.Ala500=) c.76G= (p.Ala26=) | |
20 | g.18543059G>T | CA408364024 | SEC23B | c.1552G>T (p.Ala518Ser) c.1498G>T (p.Ala500Ser) c.76G>T (p.Ala26Ser) | |
20 | g.18543060C>A | CA408364026 | SEC23B | c.1553C>A (p.Ala518Glu) c.1499C>A (p.Ala500Glu) c.77C>A (p.Ala26Glu) | |
20 | g.18543060C= | CA2353564529 | SEC23B | c.1553C= (p.Ala518=) c.1499C= (p.Ala500=) c.77C= (p.Ala26=) | |
20 | g.18543060C>G | CA408364027 | SEC23B | c.1553C>G (p.Ala518Gly) c.1499C>G (p.Ala500Gly) c.77C>G (p.Ala26Gly) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.18543060C>T | CA408364028 | SEC23B | c.1553C>T (p.Ala518Val) c.1499C>T (p.Ala500Val) c.77C>T (p.Ala26Val) | |
20 | g.18543061A= | CA2353564530 | SEC23B | c.1554A= (p.Ala518=) c.1500A= (p.Ala500=) c.78A= (p.Ala26=) | |
20 | g.18543061A>C | CA509829226 | SEC23B | c.1554A>C (p.Ala518=) c.1500A>C (p.Ala500=) c.78A>C (p.Ala26=) | |
20 | g.18543061A>G | CA9778409 | SEC23B | c.1554A>G (p.Ala518=) c.1500A>G (p.Ala500=) c.78A>G (p.Ala26=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543061A>T | CA509829229 | SEC23B | c.1554A>T (p.Ala518=) c.1500A>T (p.Ala500=) c.78A>T (p.Ala26=) | |
20 | g.18543062T>A | CA408364029 | SEC23B | c.1555T>A (p.Phe519Ile) c.1501T>A (p.Phe501Ile) c.79T>A (p.Phe27Ile) | |
20 | g.18543062T>C | CA408364030 | SEC23B | c.1555T>C (p.Phe519Leu) c.1501T>C (p.Phe501Leu) c.79T>C (p.Phe27Leu) | ClinVar gnomAD v4 |
20 | g.18543062T>G | CA408364031 | SEC23B | c.1555T>G (p.Phe519Val) c.1501T>G (p.Phe501Val) c.79T>G (p.Phe27Val) | |
20 | g.18543063T>A | CA408364032 | SEC23B | c.1556T>A (p.Phe519Tyr) c.1502T>A (p.Phe501Tyr) c.80T>A (p.Phe27Tyr) | |
20 | g.18543063T>C | CA408364033 | SEC23B | c.1556T>C (p.Phe519Ser) c.1502T>C (p.Phe501Ser) c.80T>C (p.Phe27Ser) | |
20 | g.18543063T>G | CA408364034 | SEC23B | c.1556T>G (p.Phe519Cys) c.1502T>G (p.Phe501Cys) c.80T>G (p.Phe27Cys) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543063T= | CA2353564531 | SEC23B | c.1556T= (p.Phe519=) c.1502T= (p.Phe501=) c.80T= (p.Phe27=) | |
20 | g.18543064T>A | CA408364035 | SEC23B | c.1557T>A (p.Phe519Leu) c.1503T>A (p.Phe501Leu) c.81T>A (p.Phe27Leu) | |
20 | g.18543064T>C | CA509829235 | SEC23B | c.1557T>C (p.Phe519=) c.1503T>C (p.Phe501=) c.81T>C (p.Phe27=) | |
20 | g.18543064T>G | CA408364036 | SEC23B | c.1557T>G (p.Phe519Leu) c.1503T>G (p.Phe501Leu) c.81T>G (p.Phe27Leu) | |
20 | g.18543065G>A | CA408364038 | SEC23B | c.1558G>A (p.Asp520Asn) c.1504G>A (p.Asp502Asn) c.82G>A (p.Asp28Asn) | |
20 | g.18543065G>C | CA408364039 | SEC23B | c.1558G>C (p.Asp520His) c.1504G>C (p.Asp502His) c.82G>C (p.Asp28His) | |
20 | g.18543065G>T | CA408364037 | SEC23B | c.1558G>T (p.Asp520Tyr) c.1504G>T (p.Asp502Tyr) c.82G>T (p.Asp28Tyr) | |
20 | g.18543066A>C | CA408364040 | SEC23B | c.1559A>C (p.Asp520Ala) c.1505A>C (p.Asp502Ala) c.83A>C (p.Asp28Ala) | |
20 | g.18543066A>G | CA408364041 | SEC23B | c.1559A>G (p.Asp520Gly) c.1505A>G (p.Asp502Gly) c.83A>G (p.Asp28Gly) | |
20 | g.18543066A>T | CA408364042 | SEC23B | c.1559A>T (p.Asp520Val) c.1505A>T (p.Asp502Val) c.83A>T (p.Asp28Val) | |
20 | g.18543067C>A | CA408364043 | SEC23B | c.1560C>A (p.Asp520Glu) c.1506C>A (p.Asp502Glu) c.84C>A (p.Asp28Glu) | |
20 | g.18543067C>G | CA408364044 | SEC23B | c.1560C>G (p.Asp520Glu) c.1506C>G (p.Asp502Glu) c.84C>G (p.Asp28Glu) | |
20 | g.18543067C>T | CA509829242 | SEC23B | c.1560C>T (p.Asp520=) c.1506C>T (p.Asp502=) c.84C>T (p.Asp28=) | |
20 | g.18543068C>A | CA408364045 | SEC23B | c.1561C>A (p.Gln521Lys) c.1507C>A (p.Gln503Lys) c.85C>A (p.Gln29Lys) | |
20 | g.18543068C= | CA2353564532 | SEC23B | c.1561C= (p.Gln521=) c.1507C= (p.Gln503=) c.85C= (p.Gln29=) | |
20 | g.18543068C>G | CA408364046 | SEC23B | c.1561C>G (p.Gln521Glu) c.1507C>G (p.Gln503Glu) c.85C>G (p.Gln29Glu) | |
20 | g.18543068C>T | CA408364047 | SEC23B | c.1561C>T (p.Gln521Ter) c.1507C>T (p.Gln503Ter) c.85C>T (p.Gln29Ter) | ClinVar dbSNP gnomAD v4 |
20 | g.18543069A>C | CA408364048 | SEC23B | c.1562A>C (p.Gln521Pro) c.1508A>C (p.Gln503Pro) c.86A>C (p.Gln29Pro) | |
20 | g.18543069A>G | CA408364049 | SEC23B | c.1562A>G (p.Gln521Arg) c.1508A>G (p.Gln503Arg) c.86A>G (p.Gln29Arg) | |
20 | g.18543069A>T | CA408364050 | SEC23B | c.1562A>T (p.Gln521Leu) c.1508A>T (p.Gln503Leu) c.86A>T (p.Gln29Leu) | |
20 | g.18543070G>A | CA509829248 | SEC23B | c.1563G>A (p.Gln521=) c.1509G>A (p.Gln503=) c.87G>A (p.Gln29=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.18543070G>C | CA408364051 | SEC23B | c.1563G>C (p.Gln521His) c.1509G>C (p.Gln503His) c.87G>C (p.Gln29His) | COSMIC |
20 | g.18543070G= | CA2353564533 | SEC23B | c.1563G= (p.Gln521=) c.1509G= (p.Gln503=) c.87G= (p.Gln29=) | |
20 | g.18543070G>T | CA408364052 | SEC23B | c.1563G>T (p.Gln521His) c.1509G>T (p.Gln503His) c.87G>T (p.Gln29His) | gnomAD v4 |
20 | g.18543071G>A | CA408364055 | SEC23B | c.1564G>A (p.Glu522Lys) c.1510G>A (p.Glu504Lys) c.88G>A (p.Glu30Lys) | gnomAD v4 |
20 | g.18543071G>C | CA408364054 | SEC23B | c.1564G>C (p.Glu522Gln) c.1510G>C (p.Glu504Gln) c.88G>C (p.Glu30Gln) | |
20 | g.18543071G>T | CA408364053 | SEC23B | c.1564G>T (p.Glu522Ter) c.1510G>T (p.Glu504Ter) c.88G>T (p.Glu30Ter) | COSMIC |
20 | g.18543072A>C | CA408364056 | SEC23B | c.1565A>C (p.Glu522Ala) c.1511A>C (p.Glu504Ala) c.89A>C (p.Glu30Ala) | |
20 | g.18543072A>G | CA408364057 | SEC23B | c.1565A>G (p.Glu522Gly) c.1511A>G (p.Glu504Gly) c.89A>G (p.Glu30Gly) | |
20 | g.18543072A>T | CA408364058 | SEC23B | c.1565A>T (p.Glu522Val) c.1511A>T (p.Glu504Val) c.89A>T (p.Glu30Val) | |
20 | g.18543073G>A | CA9778410 | SEC23B | c.1566G>A (p.Glu522=) c.1512G>A (p.Glu504=) c.90G>A (p.Glu30=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543073G>C | CA408364059 | SEC23B | c.1566G>C (p.Glu522Asp) c.1512G>C (p.Glu504Asp) c.90G>C (p.Glu30Asp) | |
20 | g.18543073G= | CA2353564534 | SEC23B | c.1566G= (p.Glu522=) c.1512G= (p.Glu504=) c.90G= (p.Glu30=) | |
20 | g.18543073G>T | CA408364060 | SEC23B | c.1566G>T (p.Glu522Asp) c.1512G>T (p.Glu504Asp) c.90G>T (p.Glu30Asp) | |
20 | g.18543074dup | CA2652043868 | SEC23B | c.1567dup (p.Ala523GlyfsTer?) c.1513dup (p.Ala505GlyfsTer?) c.91dup (p.Ala31GlyfsTer?) | gnomAD v4 |
20 | g.18543074G>A | CA408364061 | SEC23B | c.1567G>A (p.Ala523Thr) c.1513G>A (p.Ala505Thr) c.91G>A (p.Ala31Thr) | |
20 | g.18543074G>C | CA408364062 | SEC23B | c.1567G>C (p.Ala523Pro) c.1513G>C (p.Ala505Pro) c.91G>C (p.Ala31Pro) | |
20 | g.18543074G>T | CA408364063 | SEC23B | c.1567G>T (p.Ala523Ser) c.1513G>T (p.Ala505Ser) c.91G>T (p.Ala31Ser) | |
20 | g.18543075C>A | CA408364064 | SEC23B | c.1568C>A (p.Ala523Asp) c.1514C>A (p.Ala505Asp) c.92C>A (p.Ala31Asp) | |
20 | g.18543075C>G | CA408364065 | SEC23B | c.1568C>G (p.Ala523Gly) c.1514C>G (p.Ala505Gly) c.92C>G (p.Ala31Gly) | |
20 | g.18543075C>T | CA408364066 | SEC23B | c.1568C>T (p.Ala523Val) c.1514C>T (p.Ala505Val) c.92C>T (p.Ala31Val) | |
20 | g.18543076T>A | CA509829259 | SEC23B | c.1569T>A (p.Ala523=) c.1515T>A (p.Ala505=) c.93T>A (p.Ala31=) | |
20 | g.18543076T>C | CA312406941 | SEC23B | c.1569T>C (p.Ala523=) c.1515T>C (p.Ala505=) c.93T>C (p.Ala31=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.18543076T>G | CA509829260 | SEC23B | c.1569T>G (p.Ala523=) c.1515T>G (p.Ala505=) c.93T>G (p.Ala31=) | gnomAD v4 |
20 | g.18543076T= | CA2353564535 | SEC23B | c.1569T= (p.Ala523=) c.1515T= (p.Ala505=) c.93T= (p.Ala31=) | |
20 | g.18543077G>A | CA408364069 | SEC23B | c.1570G>A (p.Ala524Thr) c.1516G>A (p.Ala506Thr) c.94G>A (p.Ala32Thr) | gnomAD v4 |
20 | g.18543077G>C | CA408364068 | SEC23B | c.1570G>C (p.Ala524Pro) c.1516G>C (p.Ala506Pro) c.94G>C (p.Ala32Pro) | |
20 | g.18543077G>T | CA408364067 | SEC23B | c.1570G>T (p.Ala524Ser) c.1516G>T (p.Ala506Ser) c.94G>T (p.Ala32Ser) | |
20 | g.18543078C>A | CA408364070 | SEC23B | c.1571C>A (p.Ala524Glu) c.1517C>A (p.Ala506Glu) c.95C>A (p.Ala32Glu) | |
20 | g.18543078C= | CA2353564536 | SEC23B | c.1571C= (p.Ala524=) c.1517C= (p.Ala506=) c.95C= (p.Ala32=) | |
20 | g.18543078C>G | CA408364071 | SEC23B | c.1571C>G (p.Ala524Gly) c.1517C>G (p.Ala506Gly) c.95C>G (p.Ala32Gly) | |
20 | g.18543078C>T | CA222937 | SEC23B | c.1571C>T (p.Ala524Val) c.1517C>T (p.Ala506Val) c.95C>T (p.Ala32Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543079G>A | CA509829266 | SEC23B | c.1572G>A (p.Ala524=) c.1518G>A (p.Ala506=) c.96G>A (p.Ala32=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.18543079G>C | CA509829267 | SEC23B | c.1572G>C (p.Ala524=) c.1518G>C (p.Ala506=) c.96G>C (p.Ala32=) | |
20 | g.18543079G= | CA2353564537 | SEC23B | c.1572G= (p.Ala524=) c.1518G= (p.Ala506=) c.96G= (p.Ala32=) | |
20 | g.18543079G>T | CA509829268 | SEC23B | c.1572G>T (p.Ala524=) c.1518G>T (p.Ala506=) c.96G>T (p.Ala32=) | |
20 | g.18543080G>A | CA408364072 | SEC23B | c.1573G>A (p.Ala525Thr) c.1519G>A (p.Ala507Thr) c.97G>A (p.Ala33Thr) | |
20 | g.18543080G>C | CA408364073 | SEC23B | c.1573G>C (p.Ala525Pro) c.1519G>C (p.Ala507Pro) c.97G>C (p.Ala33Pro) | |
20 | g.18543080G>T | CA408364074 | SEC23B | c.1573G>T (p.Ala525Ser) c.1519G>T (p.Ala507Ser) c.97G>T (p.Ala33Ser) | |
20 | g.18543081C>A | CA408364075 | SEC23B | c.1574C>A (p.Ala525Glu) c.1520C>A (p.Ala507Glu) c.98C>A (p.Ala33Glu) | |
20 | g.18543081C= | CA2353564538 | SEC23B | c.1574C= (p.Ala525=) c.1520C= (p.Ala507=) c.98C= (p.Ala33=) | |
20 | g.18543081C>G | CA408364076 | SEC23B | c.1574C>G (p.Ala525Gly) c.1520C>G (p.Ala507Gly) c.98C>G (p.Ala33Gly) | |
20 | g.18543081C>T | CA9778411 | SEC23B | c.1574C>T (p.Ala525Val) c.1520C>T (p.Ala507Val) c.98C>T (p.Ala33Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543082A>C | CA509829278 | SEC23B | c.1575A>C (p.Ala525=) c.1521A>C (p.Ala507=) c.99A>C (p.Ala33=) | |
20 | g.18543082A>G | CA509829280 | SEC23B | c.1575A>G (p.Ala525=) c.1521A>G (p.Ala507=) c.99A>G (p.Ala33=) | |
20 | g.18543082A>T | CA509829282 | SEC23B | c.1575A>T (p.Ala525=) c.1521A>T (p.Ala507=) c.99A>T (p.Ala33=) | |
20 | g.18543083G>A | CA408364077 | SEC23B | c.1576G>A (p.Val526Met) c.1522G>A (p.Val508Met) c.100G>A (p.Val34Met) | |
20 | g.18543083G>C | CA408364078 | SEC23B | c.1576G>C (p.Val526Leu) c.1522G>C (p.Val508Leu) c.100G>C (p.Val34Leu) | |
20 | g.18543083G>T | CA408364079 | SEC23B | c.1576G>T (p.Val526Leu) c.1522G>T (p.Val508Leu) c.100G>T (p.Val34Leu) | |
20 | g.18543084T>A | CA408364080 | SEC23B | c.1577T>A (p.Val526Glu) c.1523T>A (p.Val508Glu) c.101T>A (p.Val34Glu) | |
20 | g.18543084T>C | CA408364081 | SEC23B | c.1577T>C (p.Val526Ala) c.1523T>C (p.Val508Ala) c.101T>C (p.Val34Ala) | |
20 | g.18543084T>G | CA408364082 | SEC23B | c.1577T>G (p.Val526Gly) c.1523T>G (p.Val508Gly) c.101T>G (p.Val34Gly) | |
20 | g.18543085G>A | CA9778412 | SEC23B | c.1578G>A (p.Val526=) c.1524G>A (p.Val508=) c.102G>A (p.Val34=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543085G>C | CA509829288 | SEC23B | c.1578G>C (p.Val526=) c.1524G>C (p.Val508=) c.102G>C (p.Val34=) | dbSNP |
20 | g.18543085G= | CA2353564539 | SEC23B | c.1578G= (p.Val526=) c.1524G= (p.Val508=) c.102G= (p.Val34=) | |
20 | g.18543085G>T | CA509829290 | SEC23B | c.1578G>T (p.Val526=) c.1524G>T (p.Val508=) c.102G>T (p.Val34=) | |
20 | g.18543085_18543086delinsGT | CA2353564540 | SEC23B | c.1578_1579delinsGT (p.Val526=) c.1524_1525delinsGT (p.Val508=) c.102_103delinsGT (p.Val34=) | |
20 | g.18543086T>A | CA408364083 | SEC23B | c.1579T>A (p.Leu527Met) c.1525T>A (p.Leu509Met) c.103T>A (p.Leu35Met) | |
20 | g.18543086T>C | CA509829292 | SEC23B | c.1579T>C (p.Leu527=) c.1525T>C (p.Leu509=) c.103T>C (p.Leu35=) | |
20 | g.18543086T>G | CA408364084 | SEC23B | c.1579T>G (p.Leu527Val) c.1525T>G (p.Leu509Val) c.103T>G (p.Leu35Val) | |
20 | g.18543087del | CA2353564541 | SEC23B | c.1580del (p.Leu527Ter) c.1526del (p.Leu509Ter) c.104del (p.Leu35Ter) | dbSNP |
20 | g.18543087T>A | CA408364085 | SEC23B | c.1580T>A (p.Leu527Ter) c.1526T>A (p.Leu509Ter) c.104T>A (p.Leu35Ter) | |
20 | g.18543087T>C | CA408364086 | SEC23B | c.1580T>C (p.Leu527Ser) c.1526T>C (p.Leu509Ser) c.104T>C (p.Leu35Ser) | ClinVar dbSNP gnomAD v4 |
20 | g.18543087T>G | CA408364087 | SEC23B | c.1580T>G (p.Leu527Trp) c.1526T>G (p.Leu509Trp) c.104T>G (p.Leu35Trp) | |
20 | g.18543087T= | CA2353564542 | SEC23B | c.1580T= (p.Leu527=) c.1526T= (p.Leu509=) c.104T= (p.Leu35=) | |
20 | g.18543088G>A | CA509829297 | SEC23B | c.1581G>A (p.Leu527=) c.1527G>A (p.Leu509=) c.105G>A (p.Leu35=) | |
20 | g.18543088G>C | CA408364088 | SEC23B | c.1581G>C (p.Leu527Phe) c.1527G>C (p.Leu509Phe) c.105G>C (p.Leu35Phe) | dbSNP |
20 | g.18543088G= | CA2353564543 | SEC23B | c.1581G= (p.Leu527=) c.1527G= (p.Leu509=) c.105G= (p.Leu35=) | |
20 | g.18543088G>T | CA9778413 | SEC23B | c.1581G>T (p.Leu527Phe) c.1527G>T (p.Leu509Phe) c.105G>T (p.Leu35Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543089A= | CA2353564544 | SEC23B | c.1582A= (p.Met528=) c.1528A= (p.Met510=) c.106A= (p.Met36=) | |
20 | g.18543089A>C | CA408364089 | SEC23B | c.1582A>C (p.Met528Leu) c.1528A>C (p.Met510Leu) c.106A>C (p.Met36Leu) | dbSNP |
20 | g.18543089A>G | CA408364090 | SEC23B | c.1582A>G (p.Met528Val) c.1528A>G (p.Met510Val) c.106A>G (p.Met36Val) | |
20 | g.18543089A>T | CA408364091 | SEC23B | c.1582A>T (p.Met528Leu) c.1528A>T (p.Met510Leu) c.106A>T (p.Met36Leu) | |
20 | g.18543090T>A | CA408364092 | SEC23B | c.1583T>A (p.Met528Lys) c.1529T>A (p.Met510Lys) c.107T>A (p.Met36Lys) | |
20 | g.18543090T>C | CA408364093 | SEC23B | c.1583T>C (p.Met528Thr) c.1529T>C (p.Met510Thr) c.107T>C (p.Met36Thr) | |
20 | g.18543090T>G | CA408364094 | SEC23B | c.1583T>G (p.Met528Arg) c.1529T>G (p.Met510Arg) c.107T>G (p.Met36Arg) | |
20 | g.18543091G>A | CA408364097 | SEC23B | c.1584G>A (p.Met528Ile) c.1530G>A (p.Met510Ile) c.108G>A (p.Met36Ile) | gnomAD v4 |
20 | g.18543091G>C | CA408364096 | SEC23B | c.1584G>C (p.Met528Ile) c.1530G>C (p.Met510Ile) c.108G>C (p.Met36Ile) | |
20 | g.18543091G>T | CA408364095 | SEC23B | c.1584G>T (p.Met528Ile) c.1530G>T (p.Met510Ile) c.108G>T (p.Met36Ile) | |
20 | g.18543092G>A | CA408364098 | SEC23B | c.1585G>A (p.Ala529Thr) c.1531G>A (p.Ala511Thr) c.109G>A (p.Ala37Thr) | |
20 | g.18543092G>C | CA408364099 | SEC23B | c.1585G>C (p.Ala529Pro) c.1531G>C (p.Ala511Pro) c.109G>C (p.Ala37Pro) | |
20 | g.18543092G>T | CA408364100 | SEC23B | c.1585G>T (p.Ala529Ser) c.1531G>T (p.Ala511Ser) c.109G>T (p.Ala37Ser) | |
20 | g.18543093C>A | CA408364101 | SEC23B | c.1586C>A (p.Ala529Glu) c.1532C>A (p.Ala511Glu) c.110C>A (p.Ala37Glu) | |
20 | g.18543093C>G | CA408364102 | SEC23B | c.1586C>G (p.Ala529Gly) c.1532C>G (p.Ala511Gly) c.110C>G (p.Ala37Gly) | |
20 | g.18543093C>T | CA408364103 | SEC23B | c.1586C>T (p.Ala529Val) c.1532C>T (p.Ala511Val) c.110C>T (p.Ala37Val) | gnomAD v4 |
20 | g.18543094A>C | CA509829307 | SEC23B | c.1587A>C (p.Ala529=) c.1533A>C (p.Ala511=) c.111A>C (p.Ala37=) | |
20 | g.18543094A>G | CA509829308 | SEC23B | c.1587A>G (p.Ala529=) c.1533A>G (p.Ala511=) c.111A>G (p.Ala37=) | gnomAD v4 |
20 | g.18543094A>T | CA509829309 | SEC23B | c.1587A>T (p.Ala529=) c.1533A>T (p.Ala511=) c.111A>T (p.Ala37=) | |
20 | g.18543095C>A | CA509829310 | SEC23B | c.1588C>A (p.Arg530=) c.1534C>A (p.Arg512=) c.112C>A (p.Arg38=) | |
20 | g.18543095C= | CA2353564545 | SEC23B | c.1588C= (p.Arg530=) c.1534C= (p.Arg512=) c.112C= (p.Arg38=) | |
20 | g.18543095C>G | CA408364104 | SEC23B | c.1588C>G (p.Arg530Gly) c.1534C>G (p.Arg512Gly) c.112C>G (p.Arg38Gly) | |
20 | g.18543095C>T | CA114849 | SEC23B | c.1588C>T (p.Arg530Trp) c.1534C>T (p.Arg512Trp) c.112C>T (p.Arg38Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.18543096G>A | CA9778414 | SEC23B | c.1589G>A (p.Arg530Gln) c.1535G>A (p.Arg512Gln) c.113G>A (p.Arg38Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543096G>C | CA408364105 | SEC23B | c.1589G>C (p.Arg530Pro) c.1535G>C (p.Arg512Pro) c.113G>C (p.Arg38Pro) | gnomAD v4 |
20 | g.18543096G= | CA2353564546 | SEC23B | c.1589G= (p.Arg530=) c.1535G= (p.Arg512=) c.113G= (p.Arg38=) | |
20 | g.18543096G>T | CA408364106 | SEC23B | c.1589G>T (p.Arg530Leu) c.1535G>T (p.Arg512Leu) c.113G>T (p.Arg38Leu) | |
20 | g.18543097G>A | CA509829318 | SEC23B | c.1590G>A (p.Arg530=) c.1536G>A (p.Arg512=) c.114G>A (p.Arg38=) | |
20 | g.18543097G>C | CA312406962 | SEC23B | c.1590G>C (p.Arg530=) c.1536G>C (p.Arg512=) c.114G>C (p.Arg38=) | dbSNP gnomAD v4 |
20 | g.18543097G= | CA2353564547 | SEC23B | c.1590G= (p.Arg530=) c.1536G= (p.Arg512=) c.114G= (p.Arg38=) | |
20 | g.18543097G>T | CA509829319 | SEC23B | c.1590G>T (p.Arg530=) c.1536G>T (p.Arg512=) c.114G>T (p.Arg38=) | |
20 | g.18543098C>A | CA408364107 | SEC23B | c.1591C>A (p.Leu531Ile) c.1537C>A (p.Leu513Ile) c.115C>A (p.Leu39Ile) | |
20 | g.18543098C>G | CA408364108 | SEC23B | c.1591C>G (p.Leu531Val) c.1537C>G (p.Leu513Val) c.115C>G (p.Leu39Val) | |
20 | g.18543098C>T | CA408364109 | SEC23B | c.1591C>T (p.Leu531Phe) c.1537C>T (p.Leu513Phe) c.115C>T (p.Leu39Phe) | |
20 | g.18543099T>A | CA408364110 | SEC23B | c.1592T>A (p.Leu531His) c.1538T>A (p.Leu513His) c.116T>A (p.Leu39His) | |
20 | g.18543099T>C | CA408364112 | SEC23B | c.1592T>C (p.Leu531Pro) c.1538T>C (p.Leu513Pro) c.116T>C (p.Leu39Pro) | |
20 | g.18543099T>G | CA408364111 | SEC23B | c.1592T>G (p.Leu531Arg) c.1538T>G (p.Leu513Arg) c.116T>G (p.Leu39Arg) | |
20 | g.18543100T>A | CA509829323 | SEC23B | c.1593T>A (p.Leu531=) c.1539T>A (p.Leu513=) c.117T>A (p.Leu39=) | |
20 | g.18543100T>C | CA509829326 | SEC23B | c.1593T>C (p.Leu531=) c.1539T>C (p.Leu513=) c.117T>C (p.Leu39=) | |
20 | g.18543100T>G | CA509829325 | SEC23B | c.1593T>G (p.Leu531=) c.1539T>G (p.Leu513=) c.117T>G (p.Leu39=) | |
20 | g.18543101G>A | CA408364113 | SEC23B | c.1594G>A (p.Gly532Arg) c.1540G>A (p.Gly514Arg) c.118G>A (p.Gly40Arg) | |
20 | g.18543101G>C | CA408364114 | SEC23B | c.1594G>C (p.Gly532Arg) c.1540G>C (p.Gly514Arg) c.118G>C (p.Gly40Arg) | |
20 | g.18543101G>T | CA408364115 | SEC23B | c.1594G>T (p.Gly532Trp) c.1540G>T (p.Gly514Trp) c.118G>T (p.Gly40Trp) | |
20 | g.18543102G>A | CA408364116 | SEC23B | c.1595G>A (p.Gly532Glu) c.1541G>A (p.Gly514Glu) c.119G>A (p.Gly40Glu) | |
20 | g.18543102G>C | CA9778415 | SEC23B | c.1595G>C (p.Gly532Ala) c.1541G>C (p.Gly514Ala) c.119G>C (p.Gly40Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543102G= | CA2353564548 | SEC23B | c.1595G= (p.Gly532=) c.1541G= (p.Gly514=) c.119G= (p.Gly40=) | |
20 | g.18543102G>T | CA408364117 | SEC23B | c.1595G>T (p.Gly532Val) c.1541G>T (p.Gly514Val) c.119G>T (p.Gly40Val) | |
20 | g.18543103G>A | CA509829328 | SEC23B | c.1596G>A (p.Gly532=) c.1542G>A (p.Gly514=) c.120G>A (p.Gly40=) | |
20 | g.18543103G>C | CA9778416 | SEC23B | c.1596G>C (p.Gly532=) c.1542G>C (p.Gly514=) c.120G>C (p.Gly40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543103G= | CA2353564549 | SEC23B | c.1596G= (p.Gly532=) c.1542G= (p.Gly514=) c.120G= (p.Gly40=) | |
20 | g.18543103G>T | CA509829329 | SEC23B | c.1596G>T (p.Gly532=) c.1542G>T (p.Gly514=) c.120G>T (p.Gly40=) | |
20 | g.18543104G>A | CA408364118 | SEC23B | c.1597G>A (p.Val533Met) c.1543G>A (p.Val515Met) c.121G>A (p.Val41Met) | |
20 | g.18543104G>C | CA408364119 | SEC23B | c.1597G>C (p.Val533Leu) c.1543G>C (p.Val515Leu) c.121G>C (p.Val41Leu) | |
20 | g.18543104G>T | CA408364120 | SEC23B | c.1597G>T (p.Val533Leu) c.1543G>T (p.Val515Leu) c.121G>T (p.Val41Leu) | |
20 | g.18543105T>A | CA408364123 | SEC23B | c.1598T>A (p.Val533Glu) c.1544T>A (p.Val515Glu) c.122T>A (p.Val41Glu) | |
20 | g.18543105T>C | CA408364122 | SEC23B | c.1598T>C (p.Val533Ala) c.1544T>C (p.Val515Ala) c.122T>C (p.Val41Ala) | |
20 | g.18543105T>G | CA408364121 | SEC23B | c.1598T>G (p.Val533Gly) c.1544T>G (p.Val515Gly) c.122T>G (p.Val41Gly) | dbSNP gnomAD v2 |
20 | g.18543105T= | CA2353564550 | SEC23B | c.1598T= (p.Val533=) c.1544T= (p.Val515=) c.122T= (p.Val41=) |