Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21009323G>A | CA022913 | APOB | c.7545C>T (p.Thr2515=) c.5869+1410C>T (n.5869+1410C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009323G>C | CA425344980 | APOB | c.7545C>G (p.Thr2515=) c.5869+1410C>G (n.5869+1410C>G) | |
2 | g.21009323G= | CA2493476190 | APOB | c.7545C= (p.Thr2515=) c.5869+1410C= (n.5869+1410C=) | |
2 | g.21009323G>T | CA425344979 | APOB | c.7545C>A (p.Thr2515=) c.5869+1410C>A (n.5869+1410C>A) | |
2 | g.21009324G>A | CA345996920 | APOB | c.7544C>T (p.Thr2515Ile) c.5869+1409C>T (n.5869+1409C>T) | gnomAD v4 |
2 | g.21009324G>C | CA345996919 | APOB | c.7544C>G (p.Thr2515Ser) c.5869+1409C>G (n.5869+1409C>G) | |
2 | g.21009324G>T | CA345996921 | APOB | c.7544C>A (p.Thr2515Asn) c.5869+1409C>A (n.5869+1409C>A) | |
2 | g.21009325T>A | CA345996922 | APOB | c.7543A>T (p.Thr2515Ser) c.5869+1408A>T (n.5869+1408A>T) | |
2 | g.21009325T>C | CA345996923 | APOB | c.7543A>G (p.Thr2515Ala) c.5869+1408A>G (n.5869+1408A>G) | |
2 | g.21009325T>G | CA345996924 | APOB | c.7543A>C (p.Thr2515Pro) c.5869+1408A>C (n.5869+1408A>C) | |
2 | g.21009326C>A | CA345996925 | APOB | c.7542G>T (p.Glu2514Asp) c.5869+1407G>T (n.5869+1407G>T) | |
2 | g.21009326C= | CA2493476191 | APOB | c.7542G= (p.Glu2514=) c.5869+1407G= (n.5869+1407G=) | |
2 | g.21009326C>G | CA345996926 | APOB | c.7542G>C (p.Glu2514Asp) c.5869+1407G>C (n.5869+1407G>C) | gnomAD v4 |
2 | g.21009326C>T | CA425344984 | APOB | c.7542G>A (p.Glu2514=) c.5869+1407G>A (n.5869+1407G>A) | ClinVar dbSNP |
2 | g.21009326_21009327insAGCA | CA2543603453 | APOB | c.7541_7542insTGCT (p.Glu2514AspfsTer32) c.5869+1406_5869+1407insTGCT (n.5869+1406_5869+1407insTGCT) | |
2 | g.21009327T>A | CA345996927 | APOB | c.7541A>T (p.Glu2514Val) c.5869+1406A>T (n.5869+1406A>T) | |
2 | g.21009327T>C | CA345996928 | APOB | c.7541A>G (p.Glu2514Gly) c.5869+1406A>G (n.5869+1406A>G) | |
2 | g.21009327T>G | CA345996929 | APOB | c.7541A>C (p.Glu2514Ala) c.5869+1406A>C (n.5869+1406A>C) | |
2 | g.21009328C>A | CA345996931 | APOB | c.7540G>T (p.Glu2514Ter) c.5869+1405G>T (n.5869+1405G>T) | |
2 | g.21009328C= | CA2493476192 | APOB | c.7540G= (p.Glu2514=) c.5869+1405G= (n.5869+1405G=) | |
2 | g.21009328C>G | CA345996933 | APOB | c.7540G>C (p.Glu2514Gln) c.5869+1405G>C (n.5869+1405G>C) | |
2 | g.21009328C>T | CA345996934 | APOB | c.7540G>A (p.Glu2514Lys) c.5869+1405G>A (n.5869+1405G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009329T>A | CA425344991 | APOB | c.7539A>T (p.Arg2513=) c.5869+1404A>T (n.5869+1404A>T) | |
2 | g.21009329T>C | CA425344992 | APOB | c.7539A>G (p.Arg2513=) c.5869+1404A>G (n.5869+1404A>G) | |
2 | g.21009329T>G | CA425344993 | APOB | c.7539A>C (p.Arg2513=) c.5869+1404A>C (n.5869+1404A>C) | |
2 | g.21009330_21009335del | CA2529111314 | APOB | c.7534_7539del (p.Phe2512_Arg2513del) c.5869+1399_5869+1404del (n.5869+1399_5869+1404del) | |
2 | g.21009330C>A | CA345996935 | APOB | c.7538G>T (p.Arg2513Leu) c.5869+1403G>T (n.5869+1403G>T) | |
2 | g.21009330C= | CA2493476193 | APOB | c.7538G= (p.Arg2513=) c.5869+1403G= (n.5869+1403G=) | |
2 | g.21009330C>G | CA345996936 | APOB | c.7538G>C (p.Arg2513Pro) c.5869+1403G>C (n.5869+1403G>C) | |
2 | g.21009330C>T | CA064490 | APOB | c.7538G>A (p.Arg2513Gln) c.5869+1403G>A (n.5869+1403G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21009331G>A | CA064481 | APOB | c.7537C>T (p.Arg2513Ter) c.5869+1402C>T (n.5869+1402C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21009331G>C | CA064473 | APOB | c.7537C>G (p.Arg2513Gly) c.5869+1402C>G (n.5869+1402C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009331G= | CA2493476194 | APOB | c.7537C= (p.Arg2513=) c.5869+1402C= (n.5869+1402C=) | |
2 | g.21009331G>T | CA425344999 | APOB | c.7537C>A (p.Arg2513=) c.5869+1402C>A (n.5869+1402C>A) | |
2 | g.21009332G>A | CA425345000 | APOB | c.7536C>T (p.Phe2512=) c.5869+1401C>T (n.5869+1401C>T) | |
2 | g.21009332G>C | CA345996937 | APOB | c.7536C>G (p.Phe2512Leu) c.5869+1401C>G (n.5869+1401C>G) | |
2 | g.21009332G>T | CA345996938 | APOB | c.7536C>A (p.Phe2512Leu) c.5869+1401C>A (n.5869+1401C>A) | |
2 | g.21009333A>C | CA345996939 | APOB | c.7535T>G (p.Phe2512Cys) c.5869+1400T>G (n.5869+1400T>G) | |
2 | g.21009333A>G | CA345996940 | APOB | c.7535T>C (p.Phe2512Ser) c.5869+1400T>C (n.5869+1400T>C) | |
2 | g.21009333A>T | CA345996941 | APOB | c.7535T>A (p.Phe2512Tyr) c.5869+1400T>A (n.5869+1400T>A) | |
2 | g.21009334A>C | CA345996942 | APOB | c.7534T>G (p.Phe2512Val) c.5869+1399T>G (n.5869+1399T>G) | |
2 | g.21009334A>G | CA345996943 | APOB | c.7534T>C (p.Phe2512Leu) c.5869+1399T>C (n.5869+1399T>C) | |
2 | g.21009334A>T | CA345996944 | APOB | c.7534T>A (p.Phe2512Ile) c.5869+1399T>A (n.5869+1399T>A) | |
2 | g.21009335T>A | CA345996945 | APOB | c.7533A>T (p.Lys2511Asn) c.5869+1398A>T (n.5869+1398A>T) | |
2 | g.21009335T>C | CA425345002 | APOB | c.7533A>G (p.Lys2511=) c.5869+1398A>G (n.5869+1398A>G) | COSMIC |
2 | g.21009335T>G | CA345996946 | APOB | c.7533A>C (p.Lys2511Asn) c.5869+1398A>C (n.5869+1398A>C) | |
2 | g.21009336T>A | CA345996947 | APOB | c.7532A>T (p.Lys2511Ile) c.5869+1397A>T (n.5869+1397A>T) | |
2 | g.21009336T>C | CA345996948 | APOB | c.7532A>G (p.Lys2511Arg) c.5869+1397A>G (n.5869+1397A>G) | |
2 | g.21009336T>G | CA345996949 | APOB | c.7532A>C (p.Lys2511Thr) c.5869+1397A>C (n.5869+1397A>C) | |
2 | g.21009337T>A | CA345996950 | APOB | c.7531A>T (p.Lys2511Ter) c.5869+1396A>T (n.5869+1396A>T) | |
2 | g.21009337T>C | CA345996952 | APOB | c.7531A>G (p.Lys2511Glu) c.5869+1396A>G (n.5869+1396A>G) | |
2 | g.21009337T>G | CA345996951 | APOB | c.7531A>C (p.Lys2511Gln) c.5869+1396A>C (n.5869+1396A>C) | |
2 | g.21009338G>A | CA425345006 | APOB | c.7530C>T (p.Ala2510=) c.5869+1395C>T (n.5869+1395C>T) | |
2 | g.21009338G>C | CA425345007 | APOB | c.7530C>G (p.Ala2510=) c.5869+1395C>G (n.5869+1395C>G) | |
2 | g.21009338G>T | CA425345008 | APOB | c.7530C>A (p.Ala2510=) c.5869+1395C>A (n.5869+1395C>A) | |
2 | g.21009339G>A | CA345996953 | APOB | c.7529C>T (p.Ala2510Val) c.5869+1394C>T (n.5869+1394C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009339G>C | CA345996954 | APOB | c.7529C>G (p.Ala2510Gly) c.5869+1394C>G (n.5869+1394C>G) | |
2 | g.21009339G= | CA2493476195 | APOB | c.7529C= (p.Ala2510=) c.5869+1394C= (n.5869+1394C=) | |
2 | g.21009339G>T | CA345996955 | APOB | c.7529C>A (p.Ala2510Asp) c.5869+1394C>A (n.5869+1394C>A) | |
2 | g.21009340C>A | CA345996956 | APOB | c.7528G>T (p.Ala2510Ser) c.5869+1393G>T (n.5869+1393G>T) | |
2 | g.21009340C>G | CA345996957 | APOB | c.7528G>C (p.Ala2510Pro) c.5869+1393G>C (n.5869+1393G>C) | |
2 | g.21009340C>T | CA345996958 | APOB | c.7528G>A (p.Ala2510Thr) c.5869+1393G>A (n.5869+1393G>A) | gnomAD v4 |
2 | g.21009341_21009342insGCAGTGTGGTGCGCGAAATGAACCGCGTCGGCATGATGGTCGACC | CA2540602855 | APOB | c.7528_7529insTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCACACTGCGG (p.Lys2509_Ala2510insValAspHisHisAlaAspAlaValHisPheAlaHisHisThrAla) c.5869+1393_5869+1394insTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCACACTGCGG (n.5869+1393_5869+1394insTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCACACTGCGG) | |
2 | g.21009341_21009344dup | CA2658056029 | APOB | c.7525_7528dup (p.Ala2510GlufsTer?) c.5869+1390_5869+1393dup (n.5869+1390_5869+1393dup) | gnomAD v4 |
2 | g.21009341C>A | CA345996960 | APOB | c.7527G>T (p.Lys2509Asn) c.5869+1392G>T (n.5869+1392G>T) | |
2 | g.21009341C>G | CA345996959 | APOB | c.7527G>C (p.Lys2509Asn) c.5869+1392G>C (n.5869+1392G>C) | |
2 | g.21009341C>T | CA425345013 | APOB | c.7527G>A (p.Lys2509=) c.5869+1392G>A (n.5869+1392G>A) | |
2 | g.21009341_21009342insGCAG | CA2568708330 | APOB | c.7526_7527insCTGC (p.Lys2509AsnfsTer?) c.5869+1391_5869+1392insCTGC (n.5869+1391_5869+1392insCTGC) | |
2 | g.21009342T>A | CA345996961 | APOB | c.7526A>T (p.Lys2509Met) c.5869+1391A>T (n.5869+1391A>T) | |
2 | g.21009342T>C | CA345996962 | APOB | c.7526A>G (p.Lys2509Arg) c.5869+1391A>G (n.5869+1391A>G) | |
2 | g.21009342T>G | CA345996963 | APOB | c.7526A>C (p.Lys2509Thr) c.5869+1391A>C (n.5869+1391A>C) | |
2 | g.21009342_21009343insGTGGTGCGCGAAATGAACCGCGTCGGCATGATGGTCGACCTTTCGCACGGCGCCGAGACGAGTTTCTACGACGTCCTCGAGGTTTCTGCGCTGCCCATTGTGTGCAGCCAC | CA2556779076 | APOB | c.7525_7526insGTGGCTGCACACAATGGGCAGCGCAGAAACCTCGAGGACGTCGTAGAAACTCGTCTCGGCGCCGTGCGAAAGGTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCAC (p.Lys2509delinsSerGlyCysThrGlnTrpAlaAlaGlnLysProArgGlyArgArgArgAsnSerSerArgArgArgAlaLysGlyArgProSerCysArgArgGlySerPheArgAlaProGln) c.5869+1390_5869+1391insGTGGCTGCACACAATGGGCAGCGCAGAAACCTCGAGGACGTCGTAGAAACTCGTCTCGGCGCCGTGCGAAAGGTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCAC (n.5869+1390_5869+1391insGTGGCTGCACACAATGGGCAGCGCAGAAACCTCGAGGACGTCGTAGAAACTCGTCTCGGCGCCGTGCGAAAGGTCGACCATCATGCCGACGCGGTTCATTTCGCGCACCAC) | |
2 | g.21009343T>A | CA345996964 | APOB | c.7525A>T (p.Lys2509Ter) c.5869+1390A>T (n.5869+1390A>T) | |
2 | g.21009343T>C | CA345996965 | APOB | c.7525A>G (p.Lys2509Glu) c.5869+1390A>G (n.5869+1390A>G) | |
2 | g.21009343T>G | CA345996966 | APOB | c.7525A>C (p.Lys2509Gln) c.5869+1390A>C (n.5869+1390A>C) | |
2 | g.21009343_21009344insTCGCACGGCGCCGAGACGAGTTTCTACGACGCCCTCGAGGTTTCTGCGCTG | CA2556349413 | APOB | c.7524_7525insCAGCGCAGAAACCTCGAGGGCGTCGTAGAAACTCGTCTCGGCGCCGTGCGA (p.Met2508_Lys2509insGlnArgArgAsnLeuGluGlyValValGluThrArgLeuGlyAlaValArg) c.5869+1389_5869+1390insCAGCGCAGAAACCTCGAGGGCGTCGTAGAAACTCGTCTCGGCGCCGTGCGA (n.5869+1389_5869+1390insCAGCGCAGAAACCTCGAGGGCGTCGTAGAAACTCGTCTCGGCGCCGTGCGA) | |
2 | g.21009344C>A | CA345996967 | APOB | c.7524G>T (p.Met2508Ile) c.5869+1389G>T (n.5869+1389G>T) | |
2 | g.21009344C>G | CA345996969 | APOB | c.7524G>C (p.Met2508Ile) c.5869+1389G>C (n.5869+1389G>C) | |
2 | g.21009344C>T | CA345996968 | APOB | c.7524G>A (p.Met2508Ile) c.5869+1389G>A (n.5869+1389G>A) | |
2 | g.21009345A= | CA2493476196 | APOB | c.7523T= (p.Met2508=) c.5869+1388T= (n.5869+1388T=) | |
2 | g.21009345A>C | CA345996970 | APOB | c.7523T>G (p.Met2508Arg) c.5869+1388T>G (n.5869+1388T>G) | |
2 | g.21009345A>G | CA345996971 | APOB | c.7523T>C (p.Met2508Thr) c.5869+1388T>C (n.5869+1388T>C) | dbSNP |
2 | g.21009345A>T | CA345996972 | APOB | c.7523T>A (p.Met2508Lys) c.5869+1388T>A (n.5869+1388T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009346T>A | CA345996973 | APOB | c.7522A>T (p.Met2508Leu) c.5869+1387A>T (n.5869+1387A>T) | |
2 | g.21009346T>C | CA345996974 | APOB | c.7522A>G (p.Met2508Val) c.5869+1387A>G (n.5869+1387A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009346T>G | CA345996975 | APOB | c.7522A>C (p.Met2508Leu) c.5869+1387A>C (n.5869+1387A>C) | |
2 | g.21009346T= | CA2493476197 | APOB | c.7522A= (p.Met2508=) c.5869+1387A= (n.5869+1387A=) | |
2 | g.21009347G>A | CA425345021 | APOB | c.7521C>T (p.His2507=) c.5869+1386C>T (n.5869+1386C>T) | |
2 | g.21009347G>C | CA345996976 | APOB | c.7521C>G (p.His2507Gln) c.5869+1386C>G (n.5869+1386C>G) | |
2 | g.21009347G>T | CA345996977 | APOB | c.7521C>A (p.His2507Gln) c.5869+1386C>A (n.5869+1386C>A) | |
2 | g.21009348T>A | CA345996978 | APOB | c.7520A>T (p.His2507Leu) c.5869+1385A>T (n.5869+1385A>T) | |
2 | g.21009348T>C | CA064468 | APOB | c.7520A>G (p.His2507Arg) c.5869+1385A>G (n.5869+1385A>G) | ClinVar dbSNP ExAC |
2 | g.21009348T>G | CA064464 | APOB | c.7520A>C (p.His2507Pro) c.5869+1385A>C (n.5869+1385A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009348T= | CA2493476198 | APOB | c.7520A= (p.His2507=) c.5869+1385A= (n.5869+1385A=) | |
2 | g.21009349G>A | CA345996979 | APOB | c.7519C>T (p.His2507Tyr) c.5869+1384C>T (n.5869+1384C>T) | gnomAD v4 |
2 | g.21009349G>C | CA345996981 | APOB | c.7519C>G (p.His2507Asp) c.5869+1384C>G (n.5869+1384C>G) | |
2 | g.21009349G>T | CA345996980 | APOB | c.7519C>A (p.His2507Asn) c.5869+1384C>A (n.5869+1384C>A) | |
2 | g.21009350A>C | CA425345023 | APOB | c.7518T>G (p.Ala2506=) c.5869+1383T>G (n.5869+1383T>G) | |
2 | g.21009350A>G | CA425345024 | APOB | c.7518T>C (p.Ala2506=) c.5869+1383T>C (n.5869+1383T>C) | |
2 | g.21009350A>T | CA425345025 | APOB | c.7518T>A (p.Ala2506=) c.5869+1383T>A (n.5869+1383T>A) | |
2 | g.21009351G>A | CA064456 | APOB | c.7517C>T (p.Ala2506Val) c.5869+1382C>T (n.5869+1382C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009351G>C | CA345996983 | APOB | c.7517C>G (p.Ala2506Gly) c.5869+1382C>G (n.5869+1382C>G) | |
2 | g.21009351G= | CA2493476199 | APOB | c.7517C= (p.Ala2506=) c.5869+1382C= (n.5869+1382C=) | |
2 | g.21009351G>T | CA345996982 | APOB | c.7517C>A (p.Ala2506Asp) c.5869+1382C>A (n.5869+1382C>A) | |
2 | g.21009352C>A | CA345996984 | APOB | c.7516G>T (p.Ala2506Ser) c.5869+1381G>T (n.5869+1381G>T) | |
2 | g.21009352C>G | CA345996985 | APOB | c.7516G>C (p.Ala2506Pro) c.5869+1381G>C (n.5869+1381G>C) | |
2 | g.21009352C>T | CA345996986 | APOB | c.7516G>A (p.Ala2506Thr) c.5869+1381G>A (n.5869+1381G>A) | |
2 | g.21009353C>A | CA345996987 | APOB | c.7515G>T (p.Leu2505Phe) c.5869+1380G>T (n.5869+1380G>T) | |
2 | g.21009353C>G | CA345996988 | APOB | c.7515G>C (p.Leu2505Phe) c.5869+1380G>C (n.5869+1380G>C) | gnomAD v4 |
2 | g.21009353C>T | CA425345028 | APOB | c.7515G>A (p.Leu2505=) c.5869+1380G>A (n.5869+1380G>A) | |
2 | g.21009354A>C | CA345996989 | APOB | c.7514T>G (p.Leu2505Trp) c.5869+1379T>G (n.5869+1379T>G) | |
2 | g.21009354A>G | CA345996990 | APOB | c.7514T>C (p.Leu2505Ser) c.5869+1379T>C (n.5869+1379T>C) | |
2 | g.21009354A>T | CA345996991 | APOB | c.7514T>A (p.Leu2505Ter) c.5869+1379T>A (n.5869+1379T>A) | |
2 | g.21009355A>C | CA345996992 | APOB | c.7513T>G (p.Leu2505Val) c.5869+1378T>G (n.5869+1378T>G) | |
2 | g.21009355A>G | CA425345034 | APOB | c.7513T>C (p.Leu2505=) c.5869+1378T>C (n.5869+1378T>C) | |
2 | g.21009355A>T | CA345996993 | APOB | c.7513T>A (p.Leu2505Met) c.5869+1378T>A (n.5869+1378T>A) | |
2 | g.21009356A>C | CA425345036 | APOB | c.7512T>G (p.Ser2504=) c.5869+1377T>G (n.5869+1377T>G) | |
2 | g.21009356A>G | CA425345037 | APOB | c.7512T>C (p.Ser2504=) c.5869+1377T>C (n.5869+1377T>C) | |
2 | g.21009356A>T | CA425345038 | APOB | c.7512T>A (p.Ser2504=) c.5869+1377T>A (n.5869+1377T>A) | |
2 | g.21009357G>A | CA345996994 | APOB | c.7511C>T (p.Ser2504Phe) c.5869+1376C>T (n.5869+1376C>T) | ClinVar gnomAD v4 |
2 | g.21009357G>C | CA345996995 | APOB | c.7511C>G (p.Ser2504Cys) c.5869+1376C>G (n.5869+1376C>G) | |
2 | g.21009357G>T | CA345996996 | APOB | c.7511C>A (p.Ser2504Tyr) c.5869+1376C>A (n.5869+1376C>A) | COSMIC |
2 | g.21009358A= | CA2493476200 | APOB | c.7510T= (p.Ser2504=) c.5869+1375T= (n.5869+1375T=) | |
2 | g.21009358A>C | CA345996999 | APOB | c.7510T>G (p.Ser2504Ala) c.5869+1375T>G (n.5869+1375T>G) | |
2 | g.21009358A>G | CA345996997 | APOB | c.7510T>C (p.Ser2504Pro) c.5869+1375T>C (n.5869+1375T>C) | |
2 | g.21009358A>T | CA345996998 | APOB | c.7510T>A (p.Ser2504Thr) c.5869+1375T>A (n.5869+1375T>A) | ClinVar dbSNP gnomAD v4 |
2 | g.21009359T>A | CA425345041 | APOB | c.7509A>T (p.Ala2503=) c.5869+1374A>T (n.5869+1374A>T) | |
2 | g.21009359T>C | CA425345042 | APOB | c.7509A>G (p.Ala2503=) c.5869+1374A>G (n.5869+1374A>G) | |
2 | g.21009359T>G | CA425345043 | APOB | c.7509A>C (p.Ala2503=) c.5869+1374A>C (n.5869+1374A>C) | dbSNP |
2 | g.21009359T= | CA2493476201 | APOB | c.7509A= (p.Ala2503=) c.5869+1374A= (n.5869+1374A=) | |
2 | g.21009360G>A | CA345997000 | APOB | c.7508C>T (p.Ala2503Val) c.5869+1373C>T (n.5869+1373C>T) | |
2 | g.21009360G>C | CA345997001 | APOB | c.7508C>G (p.Ala2503Gly) c.5869+1373C>G (n.5869+1373C>G) | |
2 | g.21009360G>T | CA345997002 | APOB | c.7508C>A (p.Ala2503Glu) c.5869+1373C>A (n.5869+1373C>A) | |
2 | g.21009361C>A | CA345997003 | APOB | c.7507G>T (p.Ala2503Ser) c.5869+1372G>T (n.5869+1372G>T) | |
2 | g.21009361C>G | CA345997004 | APOB | c.7507G>C (p.Ala2503Pro) c.5869+1372G>C (n.5869+1372G>C) | |
2 | g.21009361C>T | CA345997005 | APOB | c.7507G>A (p.Ala2503Thr) c.5869+1372G>A (n.5869+1372G>A) | |
2 | g.21009362T>A | CA425345047 | APOB | c.7506A>T (p.Ser2502=) c.5869+1371A>T (n.5869+1371A>T) | |
2 | g.21009362T>C | CA425345048 | APOB | c.7506A>G (p.Ser2502=) c.5869+1371A>G (n.5869+1371A>G) | |
2 | g.21009362T>G | CA425345049 | APOB | c.7506A>C (p.Ser2502=) c.5869+1371A>C (n.5869+1371A>C) | |
2 | g.21009363G>A | CA345997006 | APOB | c.7505C>T (p.Ser2502Leu) c.5869+1370C>T (n.5869+1370C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009363G>C | CA345997007 | APOB | c.7505C>G (p.Ser2502Ter) c.5869+1370C>G (n.5869+1370C>G) | |
2 | g.21009363G= | CA2493476202 | APOB | c.7505C= (p.Ser2502=) c.5869+1370C= (n.5869+1370C=) | |
2 | g.21009363G>T | CA345997008 | APOB | c.7505C>A (p.Ser2502Ter) c.5869+1370C>A (n.5869+1370C>A) | |
2 | g.21009364A>C | CA345997009 | APOB | c.7504T>G (p.Ser2502Ala) c.5869+1369T>G (n.5869+1369T>G) | |
2 | g.21009364A>G | CA345997010 | APOB | c.7504T>C (p.Ser2502Pro) c.5869+1369T>C (n.5869+1369T>C) | |
2 | g.21009364A>T | CA345997011 | APOB | c.7504T>A (p.Ser2502Thr) c.5869+1369T>A (n.5869+1369T>A) | |
2 | g.21009365A>C | CA345997012 | APOB | c.7503T>G (p.Ser2501Arg) c.5869+1368T>G (n.5869+1368T>G) | |
2 | g.21009365A>G | CA425345051 | APOB | c.7503T>C (p.Ser2501=) c.5869+1368T>C (n.5869+1368T>C) | gnomAD v4 |
2 | g.21009365A>T | CA345997013 | APOB | c.7503T>A (p.Ser2501Arg) c.5869+1368T>A (n.5869+1368T>A) | |
2 | g.21009366C>A | CA345997014 | APOB | c.7502G>T (p.Ser2501Ile) c.5869+1367G>T (n.5869+1367G>T) | |
2 | g.21009366C= | CA2493476203 | APOB | c.7502G= (p.Ser2501=) c.5869+1367G= (n.5869+1367G=) | |
2 | g.21009366C>G | CA345997015 | APOB | c.7502G>C (p.Ser2501Thr) c.5869+1367G>C (n.5869+1367G>C) | |
2 | g.21009366C>T | CA43502502 | APOB | c.7502G>A (p.Ser2501Asn) c.5869+1367G>A (n.5869+1367G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009367T>A | CA43502520 | APOB | c.7501A>T (p.Ser2501Cys) c.5869+1366A>T (n.5869+1366A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.21009367T>C | CA345997016 | APOB | c.7501A>G (p.Ser2501Gly) c.5869+1366A>G (n.5869+1366A>G) | dbSNP |
2 | g.21009367T>G | CA345997017 | APOB | c.7501A>C (p.Ser2501Arg) c.5869+1366A>C (n.5869+1366A>C) | |
2 | g.21009367T= | CA2493476204 | APOB | c.7501A= (p.Ser2501=) c.5869+1366A= (n.5869+1366A=) | |
2 | g.21009368T>A | CA345997018 | APOB | c.7500A>T (p.Leu2500Phe) c.5869+1365A>T (n.5869+1365A>T) | |
2 | g.21009368T>C | CA425345055 | APOB | c.7500A>G (p.Leu2500=) c.5869+1365A>G (n.5869+1365A>G) | |
2 | g.21009368T>G | CA345997019 | APOB | c.7500A>C (p.Leu2500Phe) c.5869+1365A>C (n.5869+1365A>C) | |
2 | g.21009369A>C | CA345997020 | APOB | c.7499T>G (p.Leu2500Ter) c.5869+1364T>G (n.5869+1364T>G) | |
2 | g.21009369A>G | CA345997021 | APOB | c.7499T>C (p.Leu2500Ser) c.5869+1364T>C (n.5869+1364T>C) | |
2 | g.21009369A>T | CA345997022 | APOB | c.7499T>A (p.Leu2500Ter) c.5869+1364T>A (n.5869+1364T>A) | |
2 | g.21009370A= | CA2493476205 | APOB | c.7498T= (p.Leu2500=) c.5869+1363T= (n.5869+1363T=) | |
2 | g.21009370A>C | CA345997023 | APOB | c.7498T>G (p.Leu2500Val) c.5869+1363T>G (n.5869+1363T>G) | |
2 | g.21009370A>G | CA425345058 | APOB | c.7498T>C (p.Leu2500=) c.5869+1363T>C (n.5869+1363T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009370A>T | CA345997024 | APOB | c.7498T>A (p.Leu2500Ile) c.5869+1363T>A (n.5869+1363T>A) | |
2 | g.21009371A>C | CA425345059 | APOB | c.7497T>G (p.Ala2499=) c.5869+1362T>G (n.5869+1362T>G) | |
2 | g.21009371A>G | CA425345060 | APOB | c.7497T>C (p.Ala2499=) c.5869+1362T>C (n.5869+1362T>C) | |
2 | g.21009371A>T | CA425345061 | APOB | c.7497T>A (p.Ala2499=) c.5869+1362T>A (n.5869+1362T>A) | |
2 | g.21009372G>A | CA345997026 | APOB | c.7496C>T (p.Ala2499Val) c.5869+1361C>T (n.5869+1361C>T) | |
2 | g.21009372G>C | CA345997027 | APOB | c.7496C>G (p.Ala2499Gly) c.5869+1361C>G (n.5869+1361C>G) | |
2 | g.21009372G>T | CA345997025 | APOB | c.7496C>A (p.Ala2499Asp) c.5869+1361C>A (n.5869+1361C>A) | |
2 | g.21009373C>A | CA345997028 | APOB | c.7495G>T (p.Ala2499Ser) c.5869+1360G>T (n.5869+1360G>T) | gnomAD v4 |
2 | g.21009373C>G | CA345997029 | APOB | c.7495G>C (p.Ala2499Pro) c.5869+1360G>C (n.5869+1360G>C) | gnomAD v4 |
2 | g.21009373C>T | CA345997030 | APOB | c.7495G>A (p.Ala2499Thr) c.5869+1360G>A (n.5869+1360G>A) | |
2 | g.21009374C>A | CA43502529 | APOB | c.7494G>T (p.Glu2498Asp) c.5869+1359G>T (n.5869+1359G>T) | dbSNP |
2 | g.21009374C= | CA2493476206 | APOB | c.7494G= (p.Glu2498=) c.5869+1359G= (n.5869+1359G=) | |
2 | g.21009374C>G | CA345997031 | APOB | c.7494G>C (p.Glu2498Asp) c.5869+1359G>C (n.5869+1359G>C) | |
2 | g.21009374C>T | CA425345064 | APOB | c.7494G>A (p.Glu2498=) c.5869+1359G>A (n.5869+1359G>A) | |
2 | g.21009375T>A | CA345997034 | APOB | c.7493A>T (p.Glu2498Val) c.5869+1358A>T (n.5869+1358A>T) | |
2 | g.21009375T>C | CA345997032 | APOB | c.7493A>G (p.Glu2498Gly) c.5869+1358A>G (n.5869+1358A>G) | gnomAD v4 |
2 | g.21009375T>G | CA345997033 | APOB | c.7493A>C (p.Glu2498Ala) c.5869+1358A>C (n.5869+1358A>C) | ClinVar gnomAD v4 |
2 | g.21009376C>A | CA345997035 | APOB | c.7492G>T (p.Glu2498Ter) c.5869+1357G>T (n.5869+1357G>T) | |
2 | g.21009376C= | CA2493476207 | APOB | c.7492G= (p.Glu2498=) c.5869+1357G= (n.5869+1357G=) | |
2 | g.21009376C>G | CA345997036 | APOB | c.7492G>C (p.Glu2498Gln) c.5869+1357G>C (n.5869+1357G>C) | dbSNP |
2 | g.21009376C>T | CA345997037 | APOB | c.7492G>A (p.Glu2498Lys) c.5869+1357G>A (n.5869+1357G>A) | |
2 | g.21009377C>A | CA43502545 | APOB | c.7491G>T (p.Gln2497His) c.5869+1356G>T (n.5869+1356G>T) | dbSNP COSMIC |
2 | g.21009377C= | CA2493476208 | APOB | c.7491G= (p.Gln2497=) c.5869+1356G= (n.5869+1356G=) | |
2 | g.21009377C>G | CA345997038 | APOB | c.7491G>C (p.Gln2497His) c.5869+1356G>C (n.5869+1356G>C) | |
2 | g.21009377C>T | CA425345067 | APOB | c.7491G>A (p.Gln2497=) c.5869+1356G>A (n.5869+1356G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009378T>A | CA345997039 | APOB | c.7490A>T (p.Gln2497Leu) c.5869+1355A>T (n.5869+1355A>T) | |
2 | g.21009378T>C | CA345997041 | APOB | c.7490A>G (p.Gln2497Arg) c.5869+1355A>G (n.5869+1355A>G) | |
2 | g.21009378T>G | CA345997040 | APOB | c.7490A>C (p.Gln2497Pro) c.5869+1355A>C (n.5869+1355A>C) | |
2 | g.21009379G>A | CA345997042 | APOB | c.7489C>T (p.Gln2497Ter) c.5869+1354C>T (n.5869+1354C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009379G>C | CA345997044 | APOB | c.7489C>G (p.Gln2497Glu) c.5869+1354C>G (n.5869+1354C>G) | |
2 | g.21009379G= | CA2493476209 | APOB | c.7489C= (p.Gln2497=) c.5869+1354C= (n.5869+1354C=) | |
2 | g.21009379G>T | CA345997043 | APOB | c.7489C>A (p.Gln2497Lys) c.5869+1354C>A (n.5869+1354C>A) | |
2 | g.21009380T>A | CA345997045 | APOB | c.7488A>T (p.Leu2496Phe) c.5869+1353A>T (n.5869+1353A>T) | |
2 | g.21009380T>C | CA425345070 | APOB | c.7488A>G (p.Leu2496=) c.5869+1353A>G (n.5869+1353A>G) | |
2 | g.21009380T>G | CA345997046 | APOB | c.7488A>C (p.Leu2496Phe) c.5869+1353A>C (n.5869+1353A>C) | |
2 | g.21009381A= | CA2493476210 | APOB | c.7487T= (p.Leu2496=) c.5869+1352T= (n.5869+1352T=) | |
2 | g.21009381A>C | CA345997047 | APOB | c.7487T>G (p.Leu2496Ter) c.5869+1352T>G (n.5869+1352T>G) | |
2 | g.21009381A>G | CA345997048 | APOB | c.7487T>C (p.Leu2496Ser) c.5869+1352T>C (n.5869+1352T>C) | ClinVar dbSNP |
2 | g.21009381A>T | CA345997049 | APOB | c.7487T>A (p.Leu2496Ter) c.5869+1352T>A (n.5869+1352T>A) | |
2 | g.21009382A>C | CA345997050 | APOB | c.7486T>G (p.Leu2496Val) c.5869+1351T>G (n.5869+1351T>G) | |
2 | g.21009382A>G | CA425345075 | APOB | c.7486T>C (p.Leu2496=) c.5869+1351T>C (n.5869+1351T>C) | |
2 | g.21009382A>T | CA345997051 | APOB | c.7486T>A (p.Leu2496Ile) c.5869+1351T>A (n.5869+1351T>A) | |
2 | g.21009383C>A | CA345997052 | APOB | c.7485G>T (p.Trp2495Cys) c.5869+1350G>T (n.5869+1350G>T) | |
2 | g.21009383C>G | CA345997053 | APOB | c.7485G>C (p.Trp2495Cys) c.5869+1350G>C (n.5869+1350G>C) | |
2 | g.21009383C>T | CA345997054 | APOB | c.7485G>A (p.Trp2495Ter) c.5869+1350G>A (n.5869+1350G>A) | |
2 | g.21009384C>A | CA064445 | APOB | c.7484G>T (p.Trp2495Leu) c.5869+1349G>T (n.5869+1349G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009384C= | CA2493476211 | APOB | c.7484G= (p.Trp2495=) c.5869+1349G= (n.5869+1349G=) | |
2 | g.21009384C>G | CA345997056 | APOB | c.7484G>C (p.Trp2495Ser) c.5869+1349G>C (n.5869+1349G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009384C>T | CA345997055 | APOB | c.7484G>A (p.Trp2495Ter) c.5869+1349G>A (n.5869+1349G>A) | |
2 | g.21009384_21009385insT | CA2586968927 | APOB | c.7483_7484insA (p.Trp2495Ter) c.5869+1348_5869+1349insA (n.5869+1348_5869+1349insA) | |
2 | g.21009385A>C | CA345997057 | APOB | c.7483T>G (p.Trp2495Gly) c.5869+1348T>G (n.5869+1348T>G) | |
2 | g.21009385A>G | CA345997058 | APOB | c.7483T>C (p.Trp2495Arg) c.5869+1348T>C (n.5869+1348T>C) | COSMIC |
2 | g.21009385A>T | CA345997059 | APOB | c.7483T>A (p.Trp2495Arg) c.5869+1348T>A (n.5869+1348T>A) | dbSNP gnomAD v4 |
2 | g.21009386A>C | CA345997060 | APOB | c.7482T>G (p.Asn2494Lys) c.5869+1347T>G (n.5869+1347T>G) | COSMIC |
2 | g.21009386A>G | CA425345078 | APOB | c.7482T>C (p.Asn2494=) c.5869+1347T>C (n.5869+1347T>C) | |
2 | g.21009386A>T | CA345997061 | APOB | c.7482T>A (p.Asn2494Lys) c.5869+1347T>A (n.5869+1347T>A) | |
2 | g.21009387T>A | CA345997062 | APOB | c.7481A>T (p.Asn2494Ile) c.5869+1346A>T (n.5869+1346A>T) | |
2 | g.21009387T>C | CA345997063 | APOB | c.7481A>G (p.Asn2494Ser) c.5869+1346A>G (n.5869+1346A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009387T>G | CA345997064 | APOB | c.7481A>C (p.Asn2494Thr) c.5869+1346A>C (n.5869+1346A>C) | |
2 | g.21009387T= | CA2493476212 | APOB | c.7481A= (p.Asn2494=) c.5869+1346A= (n.5869+1346A=) | |
2 | g.21009388T>A | CA345997065 | APOB | c.7480A>T (p.Asn2494Tyr) c.5869+1345A>T (n.5869+1345A>T) | |
2 | g.21009388T>C | CA43502548 | APOB | c.7480A>G (p.Asn2494Asp) c.5869+1345A>G (n.5869+1345A>G) | dbSNP |
2 | g.21009388T>G | CA345997066 | APOB | c.7480A>C (p.Asn2494His) c.5869+1345A>C (n.5869+1345A>C) | |
2 | g.21009388T= | CA2493476213 | APOB | c.7480A= (p.Asn2494=) c.5869+1345A= (n.5869+1345A=) | |
2 | g.21009392_21009394del | CA2749094037 | APOB | c.7478_7480del (p.Ile2493del) c.5869+1343_5869+1345del (n.5869+1343_5869+1345del) | |
2 | g.21009389G>A | CA425345080 | APOB | c.7479C>T (p.Ile2493=) c.5869+1344C>T (n.5869+1344C>T) | |
2 | g.21009389G>C | CA345997067 | APOB | c.7479C>G (p.Ile2493Met) c.5869+1344C>G (n.5869+1344C>G) | |
2 | g.21009389G>T | CA425345082 | APOB | c.7479C>A (p.Ile2493=) c.5869+1344C>A (n.5869+1344C>A) | |
2 | g.21009390A>C | CA345997069 | APOB | c.7478T>G (p.Ile2493Ser) c.5869+1343T>G (n.5869+1343T>G) | |
2 | g.21009390A>G | CA345997070 | APOB | c.7478T>C (p.Ile2493Thr) c.5869+1343T>C (n.5869+1343T>C) | |
2 | g.21009390A>T | CA345997068 | APOB | c.7478T>A (p.Ile2493Asn) c.5869+1343T>A (n.5869+1343T>A) | |
2 | g.21009391T>A | CA345997071 | APOB | c.7477A>T (p.Ile2493Phe) c.5869+1342A>T (n.5869+1342A>T) | |
2 | g.21009391T>C | CA345997072 | APOB | c.7477A>G (p.Ile2493Val) c.5869+1342A>G (n.5869+1342A>G) | dbSNP |
2 | g.21009391T>G | CA345997073 | APOB | c.7477A>C (p.Ile2493Leu) c.5869+1342A>C (n.5869+1342A>C) | |
2 | g.21009391T= | CA2493476214 | APOB | c.7477A= (p.Ile2493=) c.5869+1342A= (n.5869+1342A=) | |
2 | g.21009392G>A | CA425345086 | APOB | c.7476C>T (p.Ile2492=) c.5869+1341C>T (n.5869+1341C>T) | dbSNP COSMIC |
2 | g.21009392G>C | CA345997074 | APOB | c.7476C>G (p.Ile2492Met) c.5869+1341C>G (n.5869+1341C>G) | |
2 | g.21009392G= | CA2493476215 | APOB | c.7476C= (p.Ile2492=) c.5869+1341C= (n.5869+1341C=) | |
2 | g.21009392G>T | CA425345087 | APOB | c.7476C>A (p.Ile2492=) c.5869+1341C>A (n.5869+1341C>A) | |
2 | g.21009393A>C | CA345997075 | APOB | c.7475T>G (p.Ile2492Ser) c.5869+1340T>G (n.5869+1340T>G) | |
2 | g.21009393A>G | CA345997076 | APOB | c.7475T>C (p.Ile2492Thr) c.5869+1340T>C (n.5869+1340T>C) | |
2 | g.21009393A>T | CA345997077 | APOB | c.7475T>A (p.Ile2492Asn) c.5869+1340T>A (n.5869+1340T>A) | |
2 | g.21009394T>A | CA345997078 | APOB | c.7474A>T (p.Ile2492Phe) c.5869+1339A>T (n.5869+1339A>T) | |
2 | g.21009394T>C | CA345997079 | APOB | c.7474A>G (p.Ile2492Val) c.5869+1339A>G (n.5869+1339A>G) | |
2 | g.21009394T>G | CA345997080 | APOB | c.7474A>C (p.Ile2492Leu) c.5869+1339A>C (n.5869+1339A>C) | |
2 | g.21009395T>A | CA345997081 | APOB | c.7473A>T (p.Leu2491Phe) c.5869+1338A>T (n.5869+1338A>T) | |
2 | g.21009395T>C | CA425345090 | APOB | c.7473A>G (p.Leu2491=) c.5869+1338A>G (n.5869+1338A>G) | |
2 | g.21009395T>G | CA345997082 | APOB | c.7473A>C (p.Leu2491Phe) c.5869+1338A>C (n.5869+1338A>C) | gnomAD v4 |
2 | g.21009396A= | CA2493476216 | APOB | c.7472T= (p.Leu2491=) c.5869+1337T= (n.5869+1337T=) | |
2 | g.21009396A>C | CA345997084 | APOB | c.7472T>G (p.Leu2491Ter) c.5869+1337T>G (n.5869+1337T>G) | gnomAD v4 |
2 | g.21009396A>G | CA064440 | APOB | c.7472T>C (p.Leu2491Ser) c.5869+1337T>C (n.5869+1337T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009396A>T | CA345997083 | APOB | c.7472T>A (p.Leu2491Ter) c.5869+1337T>A (n.5869+1337T>A) | |
2 | g.21009397A>C | CA345997085 | APOB | c.7471T>G (p.Leu2491Val) c.5869+1336T>G (n.5869+1336T>G) | |
2 | g.21009397A>G | CA425345093 | APOB | c.7471T>C (p.Leu2491=) c.5869+1336T>C (n.5869+1336T>C) | |
2 | g.21009397A>T | CA345997086 | APOB | c.7471T>A (p.Leu2491Ile) c.5869+1336T>A (n.5869+1336T>A) | |
2 | g.21009398G>A | CA064434 | APOB | c.7470C>T (p.Thr2490=) c.5869+1335C>T (n.5869+1335C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009398G>C | CA425345094 | APOB | c.7470C>G (p.Thr2490=) c.5869+1335C>G (n.5869+1335C>G) | ClinVar |
2 | g.21009398G= | CA2493476217 | APOB | c.7470C= (p.Thr2490=) c.5869+1335C= (n.5869+1335C=) | |
2 | g.21009398G>T | CA425345095 | APOB | c.7470C>A (p.Thr2490=) c.5869+1335C>A (n.5869+1335C>A) | COSMIC |
2 | g.21009399G>A | CA345997087 | APOB | c.7469C>T (p.Thr2490Ile) c.5869+1334C>T (n.5869+1334C>T) | gnomAD v4 |
2 | g.21009399G>C | CA345997088 | APOB | c.7469C>G (p.Thr2490Ser) c.5869+1334C>G (n.5869+1334C>G) | |
2 | g.21009399G= | CA2493476218 | APOB | c.7469C= (p.Thr2490=) c.5869+1334C= (n.5869+1334C=) | |
2 | g.21009399G>T | CA345997089 | APOB | c.7469C>A (p.Thr2490Asn) c.5869+1334C>A (n.5869+1334C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009400T>A | CA345997090 | APOB | c.7468A>T (p.Thr2490Ser) c.5869+1333A>T (n.5869+1333A>T) | |
2 | g.21009400T>C | CA345997092 | APOB | c.7468A>G (p.Thr2490Ala) c.5869+1333A>G (n.5869+1333A>G) | |
2 | g.21009400T>G | CA345997091 | APOB | c.7468A>C (p.Thr2490Pro) c.5869+1333A>C (n.5869+1333A>C) | |
2 | g.21009401T>A | CA425345099 | APOB | c.7467A>T (p.Ile2489=) c.5869+1332A>T (n.5869+1332A>T) | |
2 | g.21009401T>C | CA345997093 | APOB | c.7467A>G (p.Ile2489Met) c.5869+1332A>G (n.5869+1332A>G) | |
2 | g.21009401T>G | CA425345101 | APOB | c.7467A>C (p.Ile2489=) c.5869+1332A>C (n.5869+1332A>C) | |
2 | g.21009402A>C | CA345997094 | APOB | c.7466T>G (p.Ile2489Arg) c.5869+1331T>G (n.5869+1331T>G) | ClinVar |
2 | g.21009402A>G | CA345997095 | APOB | c.7466T>C (p.Ile2489Thr) c.5869+1331T>C (n.5869+1331T>C) | |
2 | g.21009402A>T | CA345997096 | APOB | c.7466T>A (p.Ile2489Lys) c.5869+1331T>A (n.5869+1331T>A) | |
2 | g.21009403T>A | CA345997097 | APOB | c.7465A>T (p.Ile2489Leu) c.5869+1330A>T (n.5869+1330A>T) | |
2 | g.21009403T>C | CA345997099 | APOB | c.7465A>G (p.Ile2489Val) c.5869+1330A>G (n.5869+1330A>G) | |
2 | g.21009403T>G | CA345997098 | APOB | c.7465A>C (p.Ile2489Leu) c.5869+1330A>C (n.5869+1330A>C) | |
2 | g.21009404T>A | CA345997100 | APOB | c.7464A>T (p.Lys2488Asn) c.5869+1329A>T (n.5869+1329A>T) | |
2 | g.21009404T>C | CA425345105 | APOB | c.7464A>G (p.Lys2488=) c.5869+1329A>G (n.5869+1329A>G) | gnomAD v4 |
2 | g.21009404T>G | CA345997101 | APOB | c.7464A>C (p.Lys2488Asn) c.5869+1329A>C (n.5869+1329A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009404T= | CA2493476219 | APOB | c.7464A= (p.Lys2488=) c.5869+1329A= (n.5869+1329A=) | |
2 | g.21009405T>A | CA345997102 | APOB | c.7463A>T (p.Lys2488Ile) c.5869+1328A>T (n.5869+1328A>T) | |
2 | g.21009405T>C | CA345997104 | APOB | c.7463A>G (p.Lys2488Arg) c.5869+1328A>G (n.5869+1328A>G) | dbSNP gnomAD v4 |
2 | g.21009405T>G | CA345997103 | APOB | c.7463A>C (p.Lys2488Thr) c.5869+1328A>C (n.5869+1328A>C) | |
2 | g.21009406T>A | CA345997105 | APOB | c.7462A>T (p.Lys2488Ter) c.5869+1327A>T (n.5869+1327A>T) | |
2 | g.21009406T>C | CA345997107 | APOB | c.7462A>G (p.Lys2488Glu) c.5869+1327A>G (n.5869+1327A>G) | gnomAD v4 |
2 | g.21009406T>G | CA345997106 | APOB | c.7462A>C (p.Lys2488Gln) c.5869+1327A>C (n.5869+1327A>C) | |
2 | g.21009407G>A | CA425345110 | APOB | c.7461C>T (p.Thr2487=) c.5869+1326C>T (n.5869+1326C>T) | |
2 | g.21009407G>C | CA425345111 | APOB | c.7461C>G (p.Thr2487=) c.5869+1326C>G (n.5869+1326C>G) | |
2 | g.21009407G>T | CA425345113 | APOB | c.7461C>A (p.Thr2487=) c.5869+1326C>A (n.5869+1326C>A) | gnomAD v4 |
2 | g.21009407_21009409delinsGGT | CA2493476220 | APOB | c.7459_7461delinsACC (p.Thr2487=) c.5869+1324_5869+1326delinsACC (n.5869+1324_5869+1326delinsACC) | |
2 | g.21009408G>A | CA345997108 | APOB | c.7460C>T (p.Thr2487Ile) c.5869+1325C>T (n.5869+1325C>T) | |
2 | g.21009408G>C | CA345997109 | APOB | c.7460C>G (p.Thr2487Ser) c.5869+1325C>G (n.5869+1325C>G) | gnomAD v4 |
2 | g.21009408G>T | CA345997110 | APOB | c.7460C>A (p.Thr2487Asn) c.5869+1325C>A (n.5869+1325C>A) | |
2 | g.21009410_21009411del | CA531312750 | APOB | c.7459_7460del (p.Thr2487GlnfsTer?) c.5869+1324_5869+1325del (n.5869+1324_5869+1325del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009409T>A | CA345997111 | APOB | c.7459A>T (p.Thr2487Ser) c.5869+1324A>T (n.5869+1324A>T) | |
2 | g.21009409T>C | CA345997112 | APOB | c.7459A>G (p.Thr2487Ala) c.5869+1324A>G (n.5869+1324A>G) | dbSNP |
2 | g.21009409T>G | CA345997113 | APOB | c.7459A>C (p.Thr2487Pro) c.5869+1324A>C (n.5869+1324A>C) | gnomAD v4 |
2 | g.21009410G>A | CA425345115 | APOB | c.7458C>T (p.Asp2486=) c.5869+1323C>T (n.5869+1323C>T) | |
2 | g.21009410G>C | CA345997114 | APOB | c.7458C>G (p.Asp2486Glu) c.5869+1323C>G (n.5869+1323C>G) | |
2 | g.21009410G>T | CA345997115 | APOB | c.7458C>A (p.Asp2486Glu) c.5869+1323C>A (n.5869+1323C>A) | COSMIC |
2 | g.21009411T>A | CA345997116 | APOB | c.7457A>T (p.Asp2486Val) c.5869+1322A>T (n.5869+1322A>T) | |
2 | g.21009411T>C | CA345997117 | APOB | c.7457A>G (p.Asp2486Gly) c.5869+1322A>G (n.5869+1322A>G) | |
2 | g.21009411T>G | CA345997118 | APOB | c.7457A>C (p.Asp2486Ala) c.5869+1322A>C (n.5869+1322A>C) | |
2 | g.21009412C>A | CA345997121 | APOB | c.7456G>T (p.Asp2486Tyr) c.5869+1321G>T (n.5869+1321G>T) | |
2 | g.21009412C>G | CA345997119 | APOB | c.7456G>C (p.Asp2486His) c.5869+1321G>C (n.5869+1321G>C) | |
2 | g.21009412C>T | CA345997120 | APOB | c.7456G>A (p.Asp2486Asn) c.5869+1321G>A (n.5869+1321G>A) | COSMIC |
2 | g.21009413C>A | CA345997122 | APOB | c.7455G>T (p.Gln2485His) c.5869+1320G>T (n.5869+1320G>T) | COSMIC |
2 | g.21009413C>G | CA345997123 | APOB | c.7455G>C (p.Gln2485His) c.5869+1320G>C (n.5869+1320G>C) | |
2 | g.21009413C>T | CA425345122 | APOB | c.7455G>A (p.Gln2485=) c.5869+1320G>A (n.5869+1320G>A) | |
2 | g.21009414T>A | CA345997124 | APOB | c.7454A>T (p.Gln2485Leu) c.5869+1319A>T (n.5869+1319A>T) | |
2 | g.21009414T>C | CA064430 | APOB | c.7454A>G (p.Gln2485Arg) c.5869+1319A>G (n.5869+1319A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009414T>G | CA345997125 | APOB | c.7454A>C (p.Gln2485Pro) c.5869+1319A>C (n.5869+1319A>C) | |
2 | g.21009414T= | CA2493476221 | APOB | c.7454A= (p.Gln2485=) c.5869+1319A= (n.5869+1319A=) | |
2 | g.21009415G>A | CA345997126 | APOB | c.7453C>T (p.Gln2485Ter) c.5869+1318C>T (n.5869+1318C>T) | dbSNP |
2 | g.21009415G>C | CA345997127 | APOB | c.7453C>G (p.Gln2485Glu) c.5869+1318C>G (n.5869+1318C>G) | |
2 | g.21009415G= | CA2493476222 | APOB | c.7453C= (p.Gln2485=) c.5869+1318C= (n.5869+1318C=) | |
2 | g.21009415G>T | CA345997128 | APOB | c.7453C>A (p.Gln2485Lys) c.5869+1318C>A (n.5869+1318C>A) | |
2 | g.21009416T>A | CA425345128 | APOB | c.7452A>T (p.Leu2484=) c.5869+1317A>T (n.5869+1317A>T) | |
2 | g.21009416T>C | CA425345130 | APOB | c.7452A>G (p.Leu2484=) c.5869+1317A>G (n.5869+1317A>G) | gnomAD v4 |
2 | g.21009416T>G | CA425345127 | APOB | c.7452A>C (p.Leu2484=) c.5869+1317A>C (n.5869+1317A>C) | |
2 | g.21009417A= | CA2493476223 | APOB | c.7451T= (p.Leu2484=) c.5869+1316T= (n.5869+1316T=) | |
2 | g.21009417A>C | CA345997129 | APOB | c.7451T>G (p.Leu2484Arg) c.5869+1316T>G (n.5869+1316T>G) | |
2 | g.21009417A>G | CA345997130 | APOB | c.7451T>C (p.Leu2484Pro) c.5869+1316T>C (n.5869+1316T>C) | dbSNP |
2 | g.21009417A>T | CA345997131 | APOB | c.7451T>A (p.Leu2484Gln) c.5869+1316T>A (n.5869+1316T>A) | |
2 | g.21009418G>A | CA425345133 | APOB | c.7450C>T (p.Leu2484=) c.5869+1315C>T (n.5869+1315C>T) | gnomAD v4 COSMIC |
2 | g.21009418G>C | CA345997132 | APOB | c.7450C>G (p.Leu2484Val) c.5869+1315C>G (n.5869+1315C>G) | |
2 | g.21009418G>T | CA345997133 | APOB | c.7450C>A (p.Leu2484Ile) c.5869+1315C>A (n.5869+1315C>A) | |
2 | g.21009419G>A | CA425345137 | APOB | c.7449C>T (p.Ser2483=) c.5869+1314C>T (n.5869+1314C>T) | dbSNP gnomAD v4 |
2 | g.21009419G>C | CA345997134 | APOB | c.7449C>G (p.Ser2483Arg) c.5869+1314C>G (n.5869+1314C>G) | |
2 | g.21009419G= | CA2493476224 | APOB | c.7449C= (p.Ser2483=) c.5869+1314C= (n.5869+1314C=) | |
2 | g.21009419G>T | CA345997135 | APOB | c.7449C>A (p.Ser2483Arg) c.5869+1314C>A (n.5869+1314C>A) | |
2 | g.21009420C>A | CA345997136 | APOB | c.7448G>T (p.Ser2483Ile) c.5869+1313G>T (n.5869+1313G>T) | |
2 | g.21009420C>G | CA345997137 | APOB | c.7448G>C (p.Ser2483Thr) c.5869+1313G>C (n.5869+1313G>C) | |
2 | g.21009420C>T | CA345997138 | APOB | c.7448G>A (p.Ser2483Asn) c.5869+1313G>A (n.5869+1313G>A) | COSMIC |
2 | g.21009420_21009421delinsCT | CA2493476225 | APOB | c.7447_7448delinsAG (p.Ser2483=) c.5869+1312_5869+1313delinsAG (n.5869+1312_5869+1313delinsAG) | |
2 | g.21009421T>A | CA345997139 | APOB | c.7447A>T (p.Ser2483Cys) c.5869+1312A>T (n.5869+1312A>T) | |
2 | g.21009421T>C | CA345997140 | APOB | c.7447A>G (p.Ser2483Gly) c.5869+1312A>G (n.5869+1312A>G) | |
2 | g.21009421T>G | CA345997141 | APOB | c.7447A>C (p.Ser2483Arg) c.5869+1312A>C (n.5869+1312A>C) | |
2 | g.21009423del | CA2493476226 | APOB | c.7447del (p.Ser2483AlafsTer7) c.5869+1312del (n.5869+1312del) | dbSNP |
2 | g.21009422T>A | CA345997142 | APOB | c.7446A>T (p.Glu2482Asp) c.5869+1311A>T (n.5869+1311A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009422T>C | CA425345144 | APOB | c.7446A>G (p.Glu2482=) c.5869+1311A>G (n.5869+1311A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009422T>G | CA345997143 | APOB | c.7446A>C (p.Glu2482Asp) c.5869+1311A>C (n.5869+1311A>C) | ClinVar gnomAD v4 |
2 | g.21009422T= | CA2493476227 | APOB | c.7446A= (p.Glu2482=) c.5869+1311A= (n.5869+1311A=) | |
2 | g.21009423T>A | CA345997144 | APOB | c.7445A>T (p.Glu2482Val) c.5869+1310A>T (n.5869+1310A>T) | |
2 | g.21009423T>C | CA345997145 | APOB | c.7445A>G (p.Glu2482Gly) c.5869+1310A>G (n.5869+1310A>G) | |
2 | g.21009423T>G | CA345997146 | APOB | c.7445A>C (p.Glu2482Ala) c.5869+1310A>C (n.5869+1310A>C) |