Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21006619T>A | CA345986938 | APOB | c.10249A>T (p.Thr3417Ser) c.5869+4114A>T (n.5869+4114A>T) | |
2 | g.21006619T>C | CA345986939 | APOB | c.10249A>G (p.Thr3417Ala) c.5869+4114A>G (n.5869+4114A>G) | gnomAD v4 |
2 | g.21006619T>G | CA345986940 | APOB | c.10249A>C (p.Thr3417Pro) c.5869+4114A>C (n.5869+4114A>C) | |
2 | g.21006620T>A | CA345986941 | APOB | c.10248A>T (p.Leu3416Phe) c.5869+4113A>T (n.5869+4113A>T) | |
2 | g.21006620T>C | CA425343532 | APOB | c.10248A>G (p.Leu3416=) c.5869+4113A>G (n.5869+4113A>G) | |
2 | g.21006620T>G | CA345986942 | APOB | c.10248A>C (p.Leu3416Phe) c.5869+4113A>C (n.5869+4113A>C) | gnomAD v4 |
2 | g.21006621A>C | CA345986945 | APOB | c.10247T>G (p.Leu3416Ter) c.5869+4112T>G (n.5869+4112T>G) | |
2 | g.21006621A>G | CA345986943 | APOB | c.10247T>C (p.Leu3416Ser) c.5869+4112T>C (n.5869+4112T>C) | |
2 | g.21006621A>T | CA345986944 | APOB | c.10247T>A (p.Leu3416Ter) c.5869+4112T>A (n.5869+4112T>A) | |
2 | g.21006622A= | CA2493474883 | APOB | c.10246T= (p.Leu3416=) c.5869+4111T= (n.5869+4111T=) | |
2 | g.21006622A>C | CA345986946 | APOB | c.10246T>G (p.Leu3416Val) c.5869+4111T>G (n.5869+4111T>G) | |
2 | g.21006622A>G | CA425343536 | APOB | c.10246T>C (p.Leu3416=) c.5869+4111T>C (n.5869+4111T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21006622A>T | CA345986947 | APOB | c.10246T>A (p.Leu3416Ile) c.5869+4111T>A (n.5869+4111T>A) | gnomAD v4 |
2 | g.21006623G>A | CA425343537 | APOB | c.10245C>T (p.Ser3415=) c.5869+4110C>T (n.5869+4110C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21006623G>C | CA345986948 | APOB | c.10245C>G (p.Ser3415Arg) c.5869+4110C>G (n.5869+4110C>G) | |
2 | g.21006623G= | CA2493474884 | APOB | c.10245C= (p.Ser3415=) c.5869+4110C= (n.5869+4110C=) | |
2 | g.21006623G>T | CA345986949 | APOB | c.10245C>A (p.Ser3415Arg) c.5869+4110C>A (n.5869+4110C>A) | COSMIC |
2 | g.21006624C>A | CA345986950 | APOB | c.10244G>T (p.Ser3415Ile) c.5869+4109G>T (n.5869+4109G>T) | |
2 | g.21006624C= | CA2493474885 | APOB | c.10244G= (p.Ser3415=) c.5869+4109G= (n.5869+4109G=) | |
2 | g.21006624C>G | CA042839 | APOB | c.10244G>C (p.Ser3415Thr) c.5869+4109G>C (n.5869+4109G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21006624C>T | CA345986951 | APOB | c.10244G>A (p.Ser3415Asn) c.5869+4109G>A (n.5869+4109G>A) | gnomAD v4 |
2 | g.21006625T>A | CA345986952 | APOB | c.10243A>T (p.Ser3415Cys) c.5869+4108A>T (n.5869+4108A>T) | |
2 | g.21006625T>C | CA345986953 | APOB | c.10243A>G (p.Ser3415Gly) c.5869+4108A>G (n.5869+4108A>G) | |
2 | g.21006625T>G | CA345986954 | APOB | c.10243A>C (p.Ser3415Arg) c.5869+4108A>C (n.5869+4108A>C) | |
2 | g.21006626C>A | CA425343538 | APOB | c.10242G>T (p.Val3414=) c.5869+4107G>T (n.5869+4107G>T) | |
2 | g.21006626C>G | CA425343541 | APOB | c.10242G>C (p.Val3414=) c.5869+4107G>C (n.5869+4107G>C) | |
2 | g.21006626C>T | CA425343544 | APOB | c.10242G>A (p.Val3414=) c.5869+4107G>A (n.5869+4107G>A) | ClinVar |
2 | g.21006627A>C | CA345986955 | APOB | c.10241T>G (p.Val3414Gly) c.5869+4106T>G (n.5869+4106T>G) | |
2 | g.21006627A>G | CA345986956 | APOB | c.10241T>C (p.Val3414Ala) c.5869+4106T>C (n.5869+4106T>C) | gnomAD v4 |
2 | g.21006627A>T | CA345986957 | APOB | c.10241T>A (p.Val3414Glu) c.5869+4106T>A (n.5869+4106T>A) | |
2 | g.21006628C>A | CA345986958 | APOB | c.10240G>T (p.Val3414Leu) c.5869+4105G>T (n.5869+4105G>T) | |
2 | g.21006628C= | CA2493474886 | APOB | c.10240G= (p.Val3414=) c.5869+4105G= (n.5869+4105G=) | |
2 | g.21006628C>G | CA345986959 | APOB | c.10240G>C (p.Val3414Leu) c.5869+4105G>C (n.5869+4105G>C) | |
2 | g.21006628C>T | CA042827 | APOB | c.10240G>A (p.Val3414Met) c.5869+4105G>A (n.5869+4105G>A) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.21006629A>C | CA425343548 | APOB | c.10239T>G (p.Thr3413=) c.5869+4104T>G (n.5869+4104T>G) | |
2 | g.21006629A>G | CA425343547 | APOB | c.10239T>C (p.Thr3413=) c.5869+4104T>C (n.5869+4104T>C) | gnomAD v4 |
2 | g.21006629A>T | CA425343549 | APOB | c.10239T>A (p.Thr3413=) c.5869+4104T>A (n.5869+4104T>A) | |
2 | g.21006629_21006630delinsAG | CA2493474887 | APOB | c.10238_10239delinsCT (p.Thr3413=) c.5869+4103_5869+4104delinsCT (n.5869+4103_5869+4104delinsCT) | |
2 | g.21006630del | CA042812 | APOB | c.10238del (p.Thr3413MetfsTer2) c.5869+4103del (n.5869+4103del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21006630G>A | CA345986960 | APOB | c.10238C>T (p.Thr3413Ile) c.5869+4103C>T (n.5869+4103C>T) | dbSNP gnomAD v4 |
2 | g.21006630G>C | CA345986961 | APOB | c.10238C>G (p.Thr3413Ser) c.5869+4103C>G (n.5869+4103C>G) | |
2 | g.21006630G= | CA2493474888 | APOB | c.10238C= (p.Thr3413=) c.5869+4103C= (n.5869+4103C=) | |
2 | g.21006630G>T | CA345986962 | APOB | c.10238C>A (p.Thr3413Asn) c.5869+4103C>A (n.5869+4103C>A) | gnomAD v4 |
2 | g.21006631del | CA345986966 | APOB | c.10237del (p.Thr3413LeufsTer2) c.5869+4102del (n.5869+4102del) | |
2 | g.21006631T>A | CA345986963 | APOB | c.10237A>T (p.Thr3413Ser) c.5869+4102A>T (n.5869+4102A>T) | |
2 | g.21006631T>C | CA345986964 | APOB | c.10237A>G (p.Thr3413Ala) c.5869+4102A>G (n.5869+4102A>G) | gnomAD v4 |
2 | g.21006631T>G | CA345986965 | APOB | c.10237A>C (p.Thr3413Pro) c.5869+4102A>C (n.5869+4102A>C) | |
2 | g.21006632A>C | CA345986967 | APOB | c.10236T>G (p.Ser3412Arg) c.5869+4101T>G (n.5869+4101T>G) | |
2 | g.21006632A>G | CA425343554 | APOB | c.10236T>C (p.Ser3412=) c.5869+4101T>C (n.5869+4101T>C) | |
2 | g.21006632A>T | CA345986968 | APOB | c.10236T>A (p.Ser3412Arg) c.5869+4101T>A (n.5869+4101T>A) |