UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.21006592C>A | CA345986883 | APOB | c.10276G>T (p.Ala3426Ser) c.5869+4141G>T (n.5869+4141G>T) | |
| 2 | g.21006592C= | CA2493474867 | APOB | c.10276G= (p.Ala3426=) c.5869+4141G= (n.5869+4141G=) | |
| 2 | g.21006592C>G | CA345986884 | APOB | c.10276G>C (p.Ala3426Pro) c.5869+4141G>C (n.5869+4141G>C) | |
| 2 | g.21006592C>T | CA042985 | APOB | c.10276G>A (p.Ala3426Thr) c.5869+4141G>A (n.5869+4141G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006593C>A | CA425343396 | APOB | c.10275G>T (p.Val3425=) c.5869+4140G>T (n.5869+4140G>T) | gnomAD v4 |
| 2 | g.21006593C>G | CA425343398 | APOB | c.10275G>C (p.Val3425=) c.5869+4140G>C (n.5869+4140G>C) | |
| 2 | g.21006593C>T | CA425343397 | APOB | c.10275G>A (p.Val3425=) c.5869+4140G>A (n.5869+4140G>A) | |
| 2 | g.21006594A>C | CA345986885 | APOB | c.10274T>G (p.Val3425Gly) c.5869+4139T>G (n.5869+4139T>G) | |
| 2 | g.21006594A>G | CA345986886 | APOB | c.10274T>C (p.Val3425Ala) c.5869+4139T>C (n.5869+4139T>C) | gnomAD v4 |
| 2 | g.21006594A>T | CA345986887 | APOB | c.10274T>A (p.Val3425Glu) c.5869+4139T>A (n.5869+4139T>A) | |
| 2 | g.21006595C>A | CA345986888 | APOB | c.10273G>T (p.Val3425Leu) c.5869+4138G>T (n.5869+4138G>T) | |
| 2 | g.21006595C>G | CA345986889 | APOB | c.10273G>C (p.Val3425Leu) c.5869+4138G>C (n.5869+4138G>C) | |
| 2 | g.21006595C>T | CA345986890 | APOB | c.10273G>A (p.Val3425Met) c.5869+4138G>A (n.5869+4138G>A) | |
| 2 | g.21006596T>A | CA425343494 | APOB | c.10272A>T (p.Ser3424=) c.5869+4137A>T (n.5869+4137A>T) | |
| 2 | g.21006596T>C | CA425343495 | APOB | c.10272A>G (p.Ser3424=) c.5869+4137A>G (n.5869+4137A>G) | |
| 2 | g.21006596T>G | CA425343497 | APOB | c.10272A>C (p.Ser3424=) c.5869+4137A>C (n.5869+4137A>C) | dbSNP |
| 2 | g.21006596T= | CA2493474868 | APOB | c.10272A= (p.Ser3424=) c.5869+4137A= (n.5869+4137A=) | |
| 2 | g.21006597G>A | CA345986891 | APOB | c.10271C>T (p.Ser3424Leu) c.5869+4136C>T (n.5869+4136C>T) | |
| 2 | g.21006597G>C | CA345986892 | APOB | c.10271C>G (p.Ser3424Ter) c.5869+4136C>G (n.5869+4136C>G) | |
| 2 | g.21006597G>T | CA345986893 | APOB | c.10271C>A (p.Ser3424Ter) c.5869+4136C>A (n.5869+4136C>A) | gnomAD v4 |
| 2 | g.21006598A= | CA2493474869 | APOB | c.10270T= (p.Ser3424=) c.5869+4135T= (n.5869+4135T=) | |
| 2 | g.21006598A>C | CA345986894 | APOB | c.10270T>G (p.Ser3424Ala) c.5869+4135T>G (n.5869+4135T>G) | |
| 2 | g.21006598A>G | CA345986896 | APOB | c.10270T>C (p.Ser3424Pro) c.5869+4135T>C (n.5869+4135T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006598A>T | CA345986895 | APOB | c.10270T>A (p.Ser3424Thr) c.5869+4135T>A (n.5869+4135T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006599C>A | CA425343501 | APOB | c.10269G>T (p.Val3423=) c.5869+4134G>T (n.5869+4134G>T) | gnomAD v4 |
| 2 | g.21006599C= | CA2493474870 | APOB | c.10269G= (p.Val3423=) c.5869+4134G= (n.5869+4134G=) | |
| 2 | g.21006599C>G | CA042953 | APOB | c.10269G>C (p.Val3423=) c.5869+4134G>C (n.5869+4134G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006599C>T | CA425343502 | APOB | c.10269G>A (p.Val3423=) c.5869+4134G>A (n.5869+4134G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006600A= | CA2493474871 | APOB | c.10268T= (p.Val3423=) c.5869+4133T= (n.5869+4133T=) | |
| 2 | g.21006600A>C | CA345986897 | APOB | c.10268T>G (p.Val3423Gly) c.5869+4133T>G (n.5869+4133T>G) | |
| 2 | g.21006600A>G | CA43496164 | APOB | c.10268T>C (p.Val3423Ala) c.5869+4133T>C (n.5869+4133T>C) | dbSNP gnomAD v4 COSMIC |
| 2 | g.21006600A>T | CA345986898 | APOB | c.10268T>A (p.Val3423Glu) c.5869+4133T>A (n.5869+4133T>A) | |
| 2 | g.21006601C>A | CA345986899 | APOB | c.10267G>T (p.Val3423Leu) c.5869+4132G>T (n.5869+4132G>T) | |
| 2 | g.21006601C= | CA2493474872 | APOB | c.10267G= (p.Val3423=) c.5869+4132G= (n.5869+4132G=) | |
| 2 | g.21006601C>G | CA345986900 | APOB | c.10267G>C (p.Val3423Leu) c.5869+4132G>C (n.5869+4132G>C) | |
| 2 | g.21006601C>T | CA042928 | APOB | c.10267G>A (p.Val3423Met) c.5869+4132G>A (n.5869+4132G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006602T>A | CA345986901 | APOB | c.10266A>T (p.Glu3422Asp) c.5869+4131A>T (n.5869+4131A>T) | |
| 2 | g.21006602T>C | CA425343504 | APOB | c.10266A>G (p.Glu3422=) c.5869+4131A>G (n.5869+4131A>G) | |
| 2 | g.21006602T>G | CA43496178 | APOB | c.10266A>C (p.Glu3422Asp) c.5869+4131A>C (n.5869+4131A>C) | dbSNP |
| 2 | g.21006602T= | CA2493474873 | APOB | c.10266A= (p.Glu3422=) c.5869+4131A= (n.5869+4131A=) | |
| 2 | g.21006603T>A | CA345986903 | APOB | c.10265A>T (p.Glu3422Val) c.5869+4130A>T (n.5869+4130A>T) | |
| 2 | g.21006603T>C | CA042911 | APOB | c.10265A>G (p.Glu3422Gly) c.5869+4130A>G (n.5869+4130A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006603T>G | CA345986902 | APOB | c.10265A>C (p.Glu3422Ala) c.5869+4130A>C (n.5869+4130A>C) | gnomAD v4 |
| 2 | g.21006603T= | CA2493474874 | APOB | c.10265A= (p.Glu3422=) c.5869+4130A= (n.5869+4130A=) | |
| 2 | g.21006604C>A | CA345986904 | APOB | c.10264G>T (p.Glu3422Ter) c.5869+4129G>T (n.5869+4129G>T) | |
| 2 | g.21006604C>G | CA345986905 | APOB | c.10264G>C (p.Glu3422Gln) c.5869+4129G>C (n.5869+4129G>C) | |
| 2 | g.21006604C>T | CA345986906 | APOB | c.10264G>A (p.Glu3422Lys) c.5869+4129G>A (n.5869+4129G>A) | COSMIC |
| 2 | g.21006605C>A | CA345986907 | APOB | c.10263G>T (p.Met3421Ile) c.5869+4128G>T (n.5869+4128G>T) | |
| 2 | g.21006605C>G | CA345986908 | APOB | c.10263G>C (p.Met3421Ile) c.5869+4128G>C (n.5869+4128G>C) | |
| 2 | g.21006605C>T | CA345986909 | APOB | c.10263G>A (p.Met3421Ile) c.5869+4128G>A (n.5869+4128G>A) | COSMIC |
| 2 | g.21006606A= | CA2493474875 | APOB | c.10262T= (p.Met3421=) c.5869+4127T= (n.5869+4127T=) | |
| 2 | g.21006606A>C | CA345986910 | APOB | c.10262T>G (p.Met3421Arg) c.5869+4127T>G (n.5869+4127T>G) | |
| 2 | g.21006606A>G | CA042900 | APOB | c.10262T>C (p.Met3421Thr) c.5869+4127T>C (n.5869+4127T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006606A>T | CA345986911 | APOB | c.10262T>A (p.Met3421Lys) c.5869+4127T>A (n.5869+4127T>A) | |
| 2 | g.21006607T>A | CA345986912 | APOB | c.10261A>T (p.Met3421Leu) c.5869+4126A>T (n.5869+4126A>T) | |
| 2 | g.21006607T>C | CA345986913 | APOB | c.10261A>G (p.Met3421Val) c.5869+4126A>G (n.5869+4126A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006607T>G | CA345986914 | APOB | c.10261A>C (p.Met3421Leu) c.5869+4126A>C (n.5869+4126A>C) | |
| 2 | g.21006607T= | CA2493474876 | APOB | c.10261A= (p.Met3421=) c.5869+4126A= (n.5869+4126A=) | |
| 2 | g.21006608A= | CA2493474877 | APOB | c.10260T= (p.Asn3420=) c.5869+4125T= (n.5869+4125T=) | |
| 2 | g.21006608A>C | CA345986916 | APOB | c.10260T>G (p.Asn3420Lys) c.5869+4125T>G (n.5869+4125T>G) | |
| 2 | g.21006608A>G | CA425343514 | APOB | c.10260T>C (p.Asn3420=) c.5869+4125T>C (n.5869+4125T>C) | |
| 2 | g.21006608A>T | CA345986915 | APOB | c.10260T>A (p.Asn3420Lys) c.5869+4125T>A (n.5869+4125T>A) | dbSNP |
| 2 | g.21006609T>A | CA345986917 | APOB | c.10259A>T (p.Asn3420Ile) c.5869+4124A>T (n.5869+4124A>T) | |
| 2 | g.21006609T>C | CA345986918 | APOB | c.10259A>G (p.Asn3420Ser) c.5869+4124A>G (n.5869+4124A>G) | |
| 2 | g.21006609T>G | CA345986919 | APOB | c.10259A>C (p.Asn3420Thr) c.5869+4124A>C (n.5869+4124A>C) | |
| 2 | g.21006613del | CA2576686508 | APOB | c.10259del (p.Asn3420IlefsTer17) c.5869+4124del (n.5869+4124del) | |
| 2 | g.21006610T>A | CA345986920 | APOB | c.10258A>T (p.Asn3420Tyr) c.5869+4123A>T (n.5869+4123A>T) | |
| 2 | g.21006610T>C | CA345986921 | APOB | c.10258A>G (p.Asn3420Asp) c.5869+4123A>G (n.5869+4123A>G) | |
| 2 | g.21006610T>G | CA345986922 | APOB | c.10258A>C (p.Asn3420His) c.5869+4123A>C (n.5869+4123A>C) | |
| 2 | g.21006611T>A | CA345986923 | APOB | c.10257A>T (p.Lys3419Asn) c.5869+4122A>T (n.5869+4122A>T) | |
| 2 | g.21006611T>C | CA425343518 | APOB | c.10257A>G (p.Lys3419=) c.5869+4122A>G (n.5869+4122A>G) | |
| 2 | g.21006611T>G | CA345986924 | APOB | c.10257A>C (p.Lys3419Asn) c.5869+4122A>C (n.5869+4122A>C) | |
| 2 | g.21006612T>A | CA345986925 | APOB | c.10256A>T (p.Lys3419Ile) c.5869+4121A>T (n.5869+4121A>T) | |
| 2 | g.21006612T>C | CA345986926 | APOB | c.10256A>G (p.Lys3419Arg) c.5869+4121A>G (n.5869+4121A>G) | dbSNP |
| 2 | g.21006612T>G | CA345986927 | APOB | c.10256A>C (p.Lys3419Thr) c.5869+4121A>C (n.5869+4121A>C) | COSMIC |
| 2 | g.21006612T= | CA2493474878 | APOB | c.10256A= (p.Lys3419=) c.5869+4121A= (n.5869+4121A=) | |
| 2 | g.21006613T>A | CA345986928 | APOB | c.10255A>T (p.Lys3419Ter) c.5869+4120A>T (n.5869+4120A>T) | |
| 2 | g.21006613T>C | CA345986929 | APOB | c.10255A>G (p.Lys3419Glu) c.5869+4120A>G (n.5869+4120A>G) | gnomAD v4 |
| 2 | g.21006613T>G | CA345986930 | APOB | c.10255A>C (p.Lys3419Gln) c.5869+4120A>C (n.5869+4120A>C) | |
| 2 | g.21006614C>A | CA425343523 | APOB | c.10254G>T (p.Thr3418=) c.5869+4119G>T (n.5869+4119G>T) | |
| 2 | g.21006614C= | CA2493474879 | APOB | c.10254G= (p.Thr3418=) c.5869+4119G= (n.5869+4119G=) | |
| 2 | g.21006614C>G | CA425343524 | APOB | c.10254G>C (p.Thr3418=) c.5869+4119G>C (n.5869+4119G>C) | |
| 2 | g.21006614C>T | CA042878 | APOB | c.10254G>A (p.Thr3418=) c.5869+4119G>A (n.5869+4119G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21006615G>A | CA042865 | APOB | c.10253C>T (p.Thr3418Met) c.5869+4118C>T (n.5869+4118C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006615G>C | CA345986931 | APOB | c.10253C>G (p.Thr3418Arg) c.5869+4118C>G (n.5869+4118C>G) | |
| 2 | g.21006615G= | CA2493474880 | APOB | c.10253C= (p.Thr3418=) c.5869+4118C= (n.5869+4118C=) | |
| 2 | g.21006615G>T | CA43496251 | APOB | c.10253C>A (p.Thr3418Lys) c.5869+4118C>A (n.5869+4118C>A) | dbSNP |
| 2 | g.21006616T>A | CA345986932 | APOB | c.10252A>T (p.Thr3418Ser) c.5869+4117A>T (n.5869+4117A>T) | |
| 2 | g.21006616T>C | CA345986933 | APOB | c.10252A>G (p.Thr3418Ala) c.5869+4117A>G (n.5869+4117A>G) | gnomAD v4 |
| 2 | g.21006616T>G | CA345986934 | APOB | c.10252A>C (p.Thr3418Pro) c.5869+4117A>C (n.5869+4117A>C) | |
| 2 | g.21006617G>A | CA042853 | APOB | c.10251C>T (p.Thr3417=) c.5869+4116C>T (n.5869+4116C>T) | dbSNP ExAC gnomAD v2 |
| 2 | g.21006617G>C | CA425343528 | APOB | c.10251C>G (p.Thr3417=) c.5869+4116C>G (n.5869+4116C>G) | |
| 2 | g.21006617G= | CA2493474881 | APOB | c.10251C= (p.Thr3417=) c.5869+4116C= (n.5869+4116C=) | |
| 2 | g.21006617G>T | CA425343529 | APOB | c.10251C>A (p.Thr3417=) c.5869+4116C>A (n.5869+4116C>A) | COSMIC |
| 2 | g.21006618G>A | CA345986937 | APOB | c.10250C>T (p.Thr3417Ile) c.5869+4115C>T (n.5869+4115C>T) | |
| 2 | g.21006618G>C | CA345986935 | APOB | c.10250C>G (p.Thr3417Ser) c.5869+4115C>G (n.5869+4115C>G) | |
| 2 | g.21006618G= | CA2493474882 | APOB | c.10250C= (p.Thr3417=) c.5869+4115C= (n.5869+4115C=) | |
| 2 | g.21006618G>T | CA345986936 | APOB | c.10250C>A (p.Thr3417Asn) c.5869+4115C>A (n.5869+4115C>A) | dbSNP gnomAD v4 |
| 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) | |
| 2 | g.21006633C>A | CA345986969 | APOB | c.10235G>T (p.Ser3412Ile) c.5869+4100G>T (n.5869+4100G>T) | |
| 2 | g.21006633C>G | CA345986970 | APOB | c.10235G>C (p.Ser3412Thr) c.5869+4100G>C (n.5869+4100G>C) | |
| 2 | g.21006633C>T | CA345986971 | APOB | c.10235G>A (p.Ser3412Asn) c.5869+4100G>A (n.5869+4100G>A) | gnomAD v4 |
| 2 | g.21006633_21006638delinsCTGTTA | CA2493474889 | APOB | c.10230_10235delinsTAACAG (p.His3410=) c.5869+4095_5869+4100delinsTAACAG (n.5869+4095_5869+4100delinsTAACAG) | |
| 2 | g.21006634T>A | CA345986972 | APOB | c.10234A>T (p.Ser3412Cys) c.5869+4099A>T (n.5869+4099A>T) | |
| 2 | g.21006634T>C | CA345986974 | APOB | c.10234A>G (p.Ser3412Gly) c.5869+4099A>G (n.5869+4099A>G) | |
| 2 | g.21006634T>G | CA345986973 | APOB | c.10234A>C (p.Ser3412Arg) c.5869+4099A>C (n.5869+4099A>C) | gnomAD v4 |
| 2 | g.21006636_21006640del | CA1028204357 | APOB | c.10230_10234del (p.His3410GlnfsTer?) c.5869+4095_5869+4099del (n.5869+4095_5869+4099del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006635G>A | CA425343557 | APOB | c.10233C>T (p.Asn3411=) c.5869+4098C>T (n.5869+4098C>T) | COSMIC |
| 2 | g.21006635G>C | CA042794 | APOB | c.10233C>G (p.Asn3411Lys) c.5869+4098C>G (n.5869+4098C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.21006635G= | CA2493474890 | APOB | c.10233C= (p.Asn3411=) c.5869+4098C= (n.5869+4098C=) | |
| 2 | g.21006635G>T | CA345986975 | APOB | c.10233C>A (p.Asn3411Lys) c.5869+4098C>A (n.5869+4098C>A) | |
| 2 | g.21006636T>A | CA345986976 | APOB | c.10232A>T (p.Asn3411Ile) c.5869+4097A>T (n.5869+4097A>T) | |
| 2 | g.21006636T>C | CA042780 | APOB | c.10232A>G (p.Asn3411Ser) c.5869+4097A>G (n.5869+4097A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006636T>G | CA345986977 | APOB | c.10232A>C (p.Asn3411Thr) c.5869+4097A>C (n.5869+4097A>C) | |
| 2 | g.21006636T= | CA2493474891 | APOB | c.10232A= (p.Asn3411=) c.5869+4097A= (n.5869+4097A=) | |
| 2 | g.21006637T>A | CA345986978 | APOB | c.10231A>T (p.Asn3411Tyr) c.5869+4096A>T (n.5869+4096A>T) | |
| 2 | g.21006637T>C | CA345986979 | APOB | c.10231A>G (p.Asn3411Asp) c.5869+4096A>G (n.5869+4096A>G) | |
| 2 | g.21006637T>G | CA345986980 | APOB | c.10231A>C (p.Asn3411His) c.5869+4096A>C (n.5869+4096A>C) | |
| 2 | g.21006638A>C | CA345986981 | APOB | c.10230T>G (p.His3410Gln) c.5869+4095T>G (n.5869+4095T>G) | |
| 2 | g.21006638A>G | CA425343558 | APOB | c.10230T>C (p.His3410=) c.5869+4095T>C (n.5869+4095T>C) | |
| 2 | g.21006638A>T | CA345986982 | APOB | c.10230T>A (p.His3410Gln) c.5869+4095T>A (n.5869+4095T>A) | |
| 2 | g.21006639T>A | CA345986985 | APOB | c.10229A>T (p.His3410Leu) c.5869+4094A>T (n.5869+4094A>T) | |
| 2 | g.21006639T>C | CA345986984 | APOB | c.10229A>G (p.His3410Arg) c.5869+4094A>G (n.5869+4094A>G) | dbSNP gnomAD v4 |
| 2 | g.21006639T>G | CA345986983 | APOB | c.10229A>C (p.His3410Pro) c.5869+4094A>C (n.5869+4094A>C) | |
| 2 | g.21006639T= | CA2493474892 | APOB | c.10229A= (p.His3410=) c.5869+4094A= (n.5869+4094A=) | |
| 2 | g.21006640G>A | CA345986986 | APOB | c.10228C>T (p.His3410Tyr) c.5869+4093C>T (n.5869+4093C>T) | |
| 2 | g.21006640G>C | CA345986988 | APOB | c.10228C>G (p.His3410Asp) c.5869+4093C>G (n.5869+4093C>G) | |
| 2 | g.21006640G>T | CA345986987 | APOB | c.10228C>A (p.His3410Asn) c.5869+4093C>A (n.5869+4093C>A) | gnomAD v4 |
| 2 | g.21006641A>C | CA345986989 | APOB | c.10227T>G (p.Ser3409Arg) c.5869+4092T>G (n.5869+4092T>G) | |
| 2 | g.21006641A>G | CA425343565 | APOB | c.10227T>C (p.Ser3409=) c.5869+4092T>C (n.5869+4092T>C) | ClinVar gnomAD v4 |
| 2 | g.21006641A>T | CA345986990 | APOB | c.10227T>A (p.Ser3409Arg) c.5869+4092T>A (n.5869+4092T>A) | COSMIC |
| 2 | g.21006642C>A | CA345986991 | APOB | c.10226G>T (p.Ser3409Ile) c.5869+4091G>T (n.5869+4091G>T) | |
| 2 | g.21006642C= | CA2493474893 | APOB | c.10226G= (p.Ser3409=) c.5869+4091G= (n.5869+4091G=) | |
| 2 | g.21006642C>G | CA345986992 | APOB | c.10226G>C (p.Ser3409Thr) c.5869+4091G>C (n.5869+4091G>C) | |
| 2 | g.21006642C>T | CA042765 | APOB | c.10226G>A (p.Ser3409Asn) c.5869+4091G>A (n.5869+4091G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006643T>A | CA345986994 | APOB | c.10225A>T (p.Ser3409Cys) c.5869+4090A>T (n.5869+4090A>T) | |
| 2 | g.21006643T>C | CA345986995 | APOB | c.10225A>G (p.Ser3409Gly) c.5869+4090A>G (n.5869+4090A>G) | gnomAD v4 |
| 2 | g.21006643T>G | CA345986996 | APOB | c.10225A>C (p.Ser3409Arg) c.5869+4090A>C (n.5869+4090A>C) | |
| 2 | g.21006644A= | CA2493474894 | APOB | c.10224T= (p.Gly3408=) c.5869+4089T= (n.5869+4089T=) | |
| 2 | g.21006644A>C | CA425343570 | APOB | c.10224T>G (p.Gly3408=) c.5869+4089T>G (n.5869+4089T>G) | |
| 2 | g.21006644A>G | CA042746 | APOB | c.10224T>C (p.Gly3408=) c.5869+4089T>C (n.5869+4089T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006644A>T | CA425343567 | APOB | c.10224T>A (p.Gly3408=) c.5869+4089T>A (n.5869+4089T>A) | |
| 2 | g.21006645C>A | CA345986997 | APOB | c.10223G>T (p.Gly3408Val) c.5869+4088G>T (n.5869+4088G>T) | |
| 2 | g.21006645C>G | CA345986998 | APOB | c.10223G>C (p.Gly3408Ala) c.5869+4088G>C (n.5869+4088G>C) | |
| 2 | g.21006645C>T | CA345987000 | APOB | c.10223G>A (p.Gly3408Asp) c.5869+4088G>A (n.5869+4088G>A) | |
| 2 | g.21006646C>A | CA345987002 | APOB | c.10222G>T (p.Gly3408Cys) c.5869+4087G>T (n.5869+4087G>T) | |
| 2 | g.21006646C= | CA2493474895 | APOB | c.10222G= (p.Gly3408=) c.5869+4087G= (n.5869+4087G=) | |
| 2 | g.21006646C>G | CA345987003 | APOB | c.10222G>C (p.Gly3408Arg) c.5869+4087G>C (n.5869+4087G>C) | |
| 2 | g.21006646C>T | CA345987005 | APOB | c.10222G>A (p.Gly3408Ser) c.5869+4087G>A (n.5869+4087G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006647C>A | CA345987008 | APOB | c.10221G>T (p.Glu3407Asp) c.5869+4086G>T (n.5869+4086G>T) | |
| 2 | g.21006647C= | CA2493474896 | APOB | c.10221G= (p.Glu3407=) c.5869+4086G= (n.5869+4086G=) | |
| 2 | g.21006647C>G | CA345987009 | APOB | c.10221G>C (p.Glu3407Asp) c.5869+4086G>C (n.5869+4086G>C) | |
| 2 | g.21006647C>T | CA43496303 | APOB | c.10221G>A (p.Glu3407=) c.5869+4086G>A (n.5869+4086G>A) | dbSNP gnomAD v4 |
| 2 | g.21006648_21006649del | CA2586968762 | APOB | c.10220_10221del (p.Glu3407GlyfsTer2) c.5869+4085_5869+4086del (n.5869+4085_5869+4086del) | |
| 2 | g.21006648T>A | CA345987012 | APOB | c.10220A>T (p.Glu3407Val) c.5869+4085A>T (n.5869+4085A>T) | |
| 2 | g.21006648T>C | CA345987016 | APOB | c.10220A>G (p.Glu3407Gly) c.5869+4085A>G (n.5869+4085A>G) | dbSNP |
| 2 | g.21006648T>G | CA345987013 | APOB | c.10220A>C (p.Glu3407Ala) c.5869+4085A>C (n.5869+4085A>C) | |
| 2 | g.21006648T= | CA2493474897 | APOB | c.10220A= (p.Glu3407=) c.5869+4085A= (n.5869+4085A=) | |
| 2 | g.21006649C>A | CA345987018 | APOB | c.10219G>T (p.Glu3407Ter) c.5869+4084G>T (n.5869+4084G>T) | |
| 2 | g.21006649C>G | CA345987020 | APOB | c.10219G>C (p.Glu3407Gln) c.5869+4084G>C (n.5869+4084G>C) | COSMIC |
| 2 | g.21006649C>T | CA345987021 | APOB | c.10219G>A (p.Glu3407Lys) c.5869+4084G>A (n.5869+4084G>A) | |
| 2 | g.21006650C>A | CA425343571 | APOB | c.10218G>T (p.Val3406=) c.5869+4083G>T (n.5869+4083G>T) | |
| 2 | g.21006650C= | CA2493474898 | APOB | c.10218G= (p.Val3406=) c.5869+4083G= (n.5869+4083G=) | |
| 2 | g.21006650C>G | CA425343572 | APOB | c.10218G>C (p.Val3406=) c.5869+4083G>C (n.5869+4083G>C) | |
| 2 | g.21006650C>T | CA425343573 | APOB | c.10218G>A (p.Val3406=) c.5869+4083G>A (n.5869+4083G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006651A= | CA2493474899 | APOB | c.10217T= (p.Val3406=) c.5869+4082T= (n.5869+4082T=) | |
| 2 | g.21006651A>C | CA345987024 | APOB | c.10217T>G (p.Val3406Gly) c.5869+4082T>G (n.5869+4082T>G) | |
| 2 | g.21006651A>G | CA345987026 | APOB | c.10217T>C (p.Val3406Ala) c.5869+4082T>C (n.5869+4082T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006651A>T | CA345987028 | APOB | c.10217T>A (p.Val3406Glu) c.5869+4082T>A (n.5869+4082T>A) | |
| 2 | g.21006652C>A | CA345987030 | APOB | c.10216G>T (p.Val3406Leu) c.5869+4081G>T (n.5869+4081G>T) | |
| 2 | g.21006652C= | CA2493474900 | APOB | c.10216G= (p.Val3406=) c.5869+4081G= (n.5869+4081G=) | |
| 2 | g.21006652C>G | CA345987032 | APOB | c.10216G>C (p.Val3406Leu) c.5869+4081G>C (n.5869+4081G>C) | |
| 2 | g.21006652C>T | CA042733 | APOB | c.10216G>A (p.Val3406Met) c.5869+4081G>A (n.5869+4081G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006653A>C | CA345987036 | APOB | c.10215T>G (p.Phe3405Leu) c.5869+4080T>G (n.5869+4080T>G) | |
| 2 | g.21006653A>G | CA425343578 | APOB | c.10215T>C (p.Phe3405=) c.5869+4080T>C (n.5869+4080T>C) | |
| 2 | g.21006653A>T | CA345987034 | APOB | c.10215T>A (p.Phe3405Leu) c.5869+4080T>A (n.5869+4080T>A) | |
| 2 | g.21006654A= | CA2493474901 | APOB | c.10214T= (p.Phe3405=) c.5869+4079T= (n.5869+4079T=) | |
| 2 | g.21006654A>C | CA345987038 | APOB | c.10214T>G (p.Phe3405Cys) c.5869+4079T>G (n.5869+4079T>G) | COSMIC |
| 2 | g.21006654A>G | CA345987040 | APOB | c.10214T>C (p.Phe3405Ser) c.5869+4079T>C (n.5869+4079T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006654A>T | CA345987042 | APOB | c.10214T>A (p.Phe3405Tyr) c.5869+4079T>A (n.5869+4079T>A) | |
| 2 | g.21006655A>C | CA345987044 | APOB | c.10213T>G (p.Phe3405Val) c.5869+4078T>G (n.5869+4078T>G) | gnomAD v4 |
| 2 | g.21006655A>G | CA345987046 | APOB | c.10213T>C (p.Phe3405Leu) c.5869+4078T>C (n.5869+4078T>C) | |
| 2 | g.21006655A>T | CA345987048 | APOB | c.10213T>A (p.Phe3405Ile) c.5869+4078T>A (n.5869+4078T>A) | |
| 2 | g.21006656T>A | CA345987050 | APOB | c.10212A>T (p.Lys3404Asn) c.5869+4077A>T (n.5869+4077A>T) | |
| 2 | g.21006656T>C | CA425343580 | APOB | c.10212A>G (p.Lys3404=) c.5869+4077A>G (n.5869+4077A>G) | gnomAD v4 |
| 2 | g.21006656T>G | CA345987052 | APOB | c.10212A>C (p.Lys3404Asn) c.5869+4077A>C (n.5869+4077A>C) | |
| 2 | g.21006657T>A | CA345987054 | APOB | c.10211A>T (p.Lys3404Ile) c.5869+4076A>T (n.5869+4076A>T) | |
| 2 | g.21006657T>C | CA345987056 | APOB | c.10211A>G (p.Lys3404Arg) c.5869+4076A>G (n.5869+4076A>G) | gnomAD v4 |
| 2 | g.21006657T>G | CA345987057 | APOB | c.10211A>C (p.Lys3404Thr) c.5869+4076A>C (n.5869+4076A>C) | |
| 2 | g.21006658T>A | CA345987058 | APOB | c.10210A>T (p.Lys3404Ter) c.5869+4075A>T (n.5869+4075A>T) | |
| 2 | g.21006658T>C | CA345987059 | APOB | c.10210A>G (p.Lys3404Glu) c.5869+4075A>G (n.5869+4075A>G) | |
| 2 | g.21006658T>G | CA345987060 | APOB | c.10210A>C (p.Lys3404Gln) c.5869+4075A>C (n.5869+4075A>C) | |
| 2 | g.21006659G>A | CA425343583 | APOB | c.10209C>T (p.Asn3403=) c.5869+4074C>T (n.5869+4074C>T) | |
| 2 | g.21006659G>C | CA345987063 | APOB | c.10209C>G (p.Asn3403Lys) c.5869+4074C>G (n.5869+4074C>G) | |
| 2 | g.21006659G>T | CA345987065 | APOB | c.10209C>A (p.Asn3403Lys) c.5869+4074C>A (n.5869+4074C>A) | |
| 2 | g.21006660T>A | CA345987068 | APOB | c.10208A>T (p.Asn3403Ile) c.5869+4073A>T (n.5869+4073A>T) | |
| 2 | g.21006660T>C | CA345987070 | APOB | c.10208A>G (p.Asn3403Ser) c.5869+4073A>G (n.5869+4073A>G) | |
| 2 | g.21006660T>G | CA345987071 | APOB | c.10208A>C (p.Asn3403Thr) c.5869+4073A>C (n.5869+4073A>C) | |
| 2 | g.21006661T>A | CA345987074 | APOB | c.10207A>T (p.Asn3403Tyr) c.5869+4072A>T (n.5869+4072A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006661T>C | CA345987075 | APOB | c.10207A>G (p.Asn3403Asp) c.5869+4072A>G (n.5869+4072A>G) | |
| 2 | g.21006661T>G | CA345987077 | APOB | c.10207A>C (p.Asn3403His) c.5869+4072A>C (n.5869+4072A>C) | |
| 2 | g.21006661T= | CA2493474902 | APOB | c.10207A= (p.Asn3403=) c.5869+4072A= (n.5869+4072A=) | |
| 2 | g.21006662G>A | CA43496328 | APOB | c.10206C>T (p.Ser3402=) c.5869+4071C>T (n.5869+4071C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006662G>C | CA345987080 | APOB | c.10206C>G (p.Ser3402Arg) c.5869+4071C>G (n.5869+4071C>G) | COSMIC |
| 2 | g.21006662G= | CA2493474903 | APOB | c.10206C= (p.Ser3402=) c.5869+4071C= (n.5869+4071C=) | |
| 2 | g.21006662G>T | CA345987081 | APOB | c.10206C>A (p.Ser3402Arg) c.5869+4071C>A (n.5869+4071C>A) | COSMIC |
| 2 | g.21006663C>A | CA345987084 | APOB | c.10205G>T (p.Ser3402Ile) c.5869+4070G>T (n.5869+4070G>T) | |
| 2 | g.21006663C= | CA2493474904 | APOB | c.10205G= (p.Ser3402=) c.5869+4070G= (n.5869+4070G=) | |
| 2 | g.21006663C>G | CA345987086 | APOB | c.10205G>C (p.Ser3402Thr) c.5869+4070G>C (n.5869+4070G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006663C>T | CA345987087 | APOB | c.10205G>A (p.Ser3402Asn) c.5869+4070G>A (n.5869+4070G>A) | dbSNP |
| 2 | g.21006664T>A | CA345987092 | APOB | c.10204A>T (p.Ser3402Cys) c.5869+4069A>T (n.5869+4069A>T) | |
| 2 | g.21006664T>C | CA345987094 | APOB | c.10204A>G (p.Ser3402Gly) c.5869+4069A>G (n.5869+4069A>G) | |
| 2 | g.21006664T>G | CA345987090 | APOB | c.10204A>C (p.Ser3402Arg) c.5869+4069A>C (n.5869+4069A>C) | |
| 2 | g.21006665C>A | CA425343590 | APOB | c.10203G>T (p.Leu3401=) c.5869+4068G>T (n.5869+4068G>T) | gnomAD v4 |
| 2 | g.21006665C>G | CA425343588 | APOB | c.10203G>C (p.Leu3401=) c.5869+4068G>C (n.5869+4068G>C) | |
| 2 | g.21006665C>T | CA425343589 | APOB | c.10203G>A (p.Leu3401=) c.5869+4068G>A (n.5869+4068G>A) | gnomAD v4 |
| 2 | g.21006665_21006667delinsCAG | CA2493474905 | APOB | c.10201_10203delinsCTG (p.Leu3401=) c.5869+4066_5869+4068delinsCTG (n.5869+4066_5869+4068delinsCTG) | |
| 2 | g.21006666A= | CA2493474906 | APOB | c.10202T= (p.Leu3401=) c.5869+4067T= (n.5869+4067T=) | |
| 2 | g.21006666A>C | CA345987096 | APOB | c.10202T>G (p.Leu3401Arg) c.5869+4067T>G (n.5869+4067T>G) | |
| 2 | g.21006666A>G | CA042719 | APOB | c.10202T>C (p.Leu3401Pro) c.5869+4067T>C (n.5869+4067T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006666A>T | CA345987099 | APOB | c.10202T>A (p.Leu3401Gln) c.5869+4067T>A (n.5869+4067T>A) | |
| 2 | g.21006669_21006670del | CA531312725 | APOB | c.10201_10202del (p.Leu3401GlufsTer8) c.5869+4066_5869+4067del (n.5869+4066_5869+4067del) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006667G>A | CA425343591 | APOB | c.10201C>T (p.Leu3401=) c.5869+4066C>T (n.5869+4066C>T) | |
| 2 | g.21006667G>C | CA345987102 | APOB | c.10201C>G (p.Leu3401Val) c.5869+4066C>G (n.5869+4066C>G) | dbSNP |
| 2 | g.21006667G= | CA2493474907 | APOB | c.10201C= (p.Leu3401=) c.5869+4066C= (n.5869+4066C=) | |
| 2 | g.21006667G>T | CA345987103 | APOB | c.10201C>A (p.Leu3401Met) c.5869+4066C>A (n.5869+4066C>A) | |
| 2 | g.21006668A>C | CA425343594 | APOB | c.10200T>G (p.Ser3400=) c.5869+4065T>G (n.5869+4065T>G) | |
| 2 | g.21006668A>G | CA425343596 | APOB | c.10200T>C (p.Ser3400=) c.5869+4065T>C (n.5869+4065T>C) | |
| 2 | g.21006668A>T | CA425343597 | APOB | c.10200T>A (p.Ser3400=) c.5869+4065T>A (n.5869+4065T>A) | |
| 2 | g.21006669G>A | CA345987106 | APOB | c.10199C>T (p.Ser3400Phe) c.5869+4064C>T (n.5869+4064C>T) | |
| 2 | g.21006669G>C | CA345987108 | APOB | c.10199C>G (p.Ser3400Cys) c.5869+4064C>G (n.5869+4064C>G) | |
| 2 | g.21006669G>T | CA345987109 | APOB | c.10199C>A (p.Ser3400Tyr) c.5869+4064C>A (n.5869+4064C>A) | |
| 2 | g.21006670A= | CA2493474908 | APOB | c.10198T= (p.Ser3400=) c.5869+4063T= (n.5869+4063T=) | |
| 2 | g.21006670A>C | CA345987112 | APOB | c.10198T>G (p.Ser3400Ala) c.5869+4063T>G (n.5869+4063T>G) | |
| 2 | g.21006670A>G | CA345987114 | APOB | c.10198T>C (p.Ser3400Pro) c.5869+4063T>C (n.5869+4063T>C) | gnomAD v4 |
| 2 | g.21006670A>T | CA345987116 | APOB | c.10198T>A (p.Ser3400Thr) c.5869+4063T>A (n.5869+4063T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006671C>A | CA425343600 | APOB | c.10197G>T (p.Leu3399=) c.5869+4062G>T (n.5869+4062G>T) | |
| 2 | g.21006671C>G | CA425343598 | APOB | c.10197G>C (p.Leu3399=) c.5869+4062G>C (n.5869+4062G>C) | gnomAD v4 |
| 2 | g.21006671C>T | CA425343599 | APOB | c.10197G>A (p.Leu3399=) c.5869+4062G>A (n.5869+4062G>A) | |
| 2 | g.21006671_21006673delinsCAG | CA2493474909 | APOB | c.10195_10197delinsCTG (p.Leu3399=) c.5869+4060_5869+4062delinsCTG (n.5869+4060_5869+4062delinsCTG) | |
| 2 | g.21006672A>C | CA345987119 | APOB | c.10196T>G (p.Leu3399Arg) c.5869+4061T>G (n.5869+4061T>G) | |
| 2 | g.21006672A>G | CA345987120 | APOB | c.10196T>C (p.Leu3399Pro) c.5869+4061T>C (n.5869+4061T>C) | |
| 2 | g.21006672A>T | CA345987122 | APOB | c.10196T>A (p.Leu3399Gln) c.5869+4061T>A (n.5869+4061T>A) | |
| 2 | g.21006674_21006675del | CA531312726 | APOB | c.10195_10196del (p.Leu3399ValfsTer10) c.5869+4060_5869+4061del (n.5869+4060_5869+4061del) | dbSNP gnomAD v2 |
| 2 | g.21006673G>A | CA425343604 | APOB | c.10195C>T (p.Leu3399=) c.5869+4060C>T (n.5869+4060C>T) | |
| 2 | g.21006673G>C | CA345987123 | APOB | c.10195C>G (p.Leu3399Val) c.5869+4060C>G (n.5869+4060C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006673G= | CA2493474910 | APOB | c.10195C= (p.Leu3399=) c.5869+4060C= (n.5869+4060C=) | |
| 2 | g.21006673G>T | CA345987125 | APOB | c.10195C>A (p.Leu3399Met) c.5869+4060C>A (n.5869+4060C>A) | |
| 2 | g.21006674A>C | CA425343605 | APOB | c.10194T>G (p.Ala3398=) c.5869+4059T>G (n.5869+4059T>G) | |
| 2 | g.21006674A>G | CA425343606 | APOB | c.10194T>C (p.Ala3398=) c.5869+4059T>C (n.5869+4059T>C) | |
| 2 | g.21006674A>T | CA425343607 | APOB | c.10194T>A (p.Ala3398=) c.5869+4059T>A (n.5869+4059T>A) | |
| 2 | g.21006675G>A | CA345987127 | APOB | c.10193C>T (p.Ala3398Val) c.5869+4058C>T (n.5869+4058C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21006675G>C | CA345987129 | APOB | c.10193C>G (p.Ala3398Gly) c.5869+4058C>G (n.5869+4058C>G) | |
| 2 | g.21006675G= | CA2493474911 | APOB | c.10193C= (p.Ala3398=) c.5869+4058C= (n.5869+4058C=) | |
| 2 | g.21006675G>T | CA345987130 | APOB | c.10193C>A (p.Ala3398Asp) c.5869+4058C>A (n.5869+4058C>A) | |
| 2 | g.21006676C>A | CA345987133 | APOB | c.10192G>T (p.Ala3398Ser) c.5869+4057G>T (n.5869+4057G>T) | |
| 2 | g.21006676C>G | CA345987135 | APOB | c.10192G>C (p.Ala3398Pro) c.5869+4057G>C (n.5869+4057G>C) | |
| 2 | g.21006676C>T | CA345987136 | APOB | c.10192G>A (p.Ala3398Thr) c.5869+4057G>A (n.5869+4057G>A) | |
| 2 | g.21006677T>A | CA425343609 | APOB | c.10191A>T (p.Thr3397=) c.5869+4056A>T (n.5869+4056A>T) | |
| 2 | g.21006677T>C | CA425343611 | APOB | c.10191A>G (p.Thr3397=) c.5869+4056A>G (n.5869+4056A>G) | |
| 2 | g.21006677T>G | CA425343612 | APOB | c.10191A>C (p.Thr3397=) c.5869+4056A>C (n.5869+4056A>C) | ClinVar |
| 2 | g.21006678G>A | CA345987139 | APOB | c.10190C>T (p.Thr3397Ile) c.5869+4055C>T (n.5869+4055C>T) | |
| 2 | g.21006678G>C | CA345987140 | APOB | c.10190C>G (p.Thr3397Arg) c.5869+4055C>G (n.5869+4055C>G) | |
| 2 | g.21006678G>T | CA345987141 | APOB | c.10190C>A (p.Thr3397Lys) c.5869+4055C>A (n.5869+4055C>A) | |
| 2 | g.21006679T>A | CA345987144 | APOB | c.10189A>T (p.Thr3397Ser) c.5869+4054A>T (n.5869+4054A>T) | gnomAD v4 |
| 2 | g.21006679T>C | CA345987145 | APOB | c.10189A>G (p.Thr3397Ala) c.5869+4054A>G (n.5869+4054A>G) | |
| 2 | g.21006679T>G | CA345987147 | APOB | c.10189A>C (p.Thr3397Pro) c.5869+4054A>C (n.5869+4054A>C) | |
| 2 | g.21006680G>A | CA042695 | APOB | c.10188C>T (p.Ala3396=) c.5869+4053C>T (n.5869+4053C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006680G>C | CA425343615 | APOB | c.10188C>G (p.Ala3396=) c.5869+4053C>G (n.5869+4053C>G) | |
| 2 | g.21006680G= | CA2493474912 | APOB | c.10188C= (p.Ala3396=) c.5869+4053C= (n.5869+4053C=) | |
| 2 | g.21006680G>T | CA425343617 | APOB | c.10188C>A (p.Ala3396=) c.5869+4053C>A (n.5869+4053C>A) | |
| 2 | g.21006681G>A | CA345987152 | APOB | c.10187C>T (p.Ala3396Val) c.5869+4052C>T (n.5869+4052C>T) | gnomAD v4 |
| 2 | g.21006681G>C | CA345987154 | APOB | c.10187C>G (p.Ala3396Gly) c.5869+4052C>G (n.5869+4052C>G) | |
| 2 | g.21006681G= | CA2493474913 | APOB | c.10187C= (p.Ala3396=) c.5869+4052C= (n.5869+4052C=) | |
| 2 | g.21006681G>T | CA022739 | APOB | c.10187C>A (p.Ala3396Asp) c.5869+4052C>A (n.5869+4052C>A) | ClinVar dbSNP |
| 2 | g.21006682C>A | CA345987157 | APOB | c.10186G>T (p.Ala3396Ser) c.5869+4051G>T (n.5869+4051G>T) | |
| 2 | g.21006682C= | CA2493474914 | APOB | c.10186G= (p.Ala3396=) c.5869+4051G= (n.5869+4051G=) | |
| 2 | g.21006682C>G | CA345987158 | APOB | c.10186G>C (p.Ala3396Pro) c.5869+4051G>C (n.5869+4051G>C) | |
| 2 | g.21006682C>T | CA345987160 | APOB | c.10186G>A (p.Ala3396Thr) c.5869+4051G>A (n.5869+4051G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21006683T>A | CA345987161 | APOB | c.10185A>T (p.Leu3395Phe) c.5869+4050A>T (n.5869+4050A>T) | |
| 2 | g.21006683T>C | CA425343621 | APOB | c.10185A>G (p.Leu3395=) c.5869+4050A>G (n.5869+4050A>G) | |
| 2 | g.21006683T>G | CA345987162 | APOB | c.10185A>C (p.Leu3395Phe) c.5869+4050A>C (n.5869+4050A>C) | |
| 2 | g.21006684A>C | CA345987163 | APOB | c.10184T>G (p.Leu3395Ter) c.5869+4049T>G (n.5869+4049T>G) | |
| 2 | g.21006684A>G | CA345987164 | APOB | c.10184T>C (p.Leu3395Ser) c.5869+4049T>C (n.5869+4049T>C) | |
| 2 | g.21006684A>T | CA345987165 | APOB | c.10184T>A (p.Leu3395Ter) c.5869+4049T>A (n.5869+4049T>A) | |
| 2 | g.21006685A>C | CA345987166 | APOB | c.10183T>G (p.Leu3395Val) c.5869+4048T>G (n.5869+4048T>G) | |
| 2 | g.21006685A>G | CA425343625 | APOB | c.10183T>C (p.Leu3395=) c.5869+4048T>C (n.5869+4048T>C) | gnomAD v4 |
| 2 | g.21006685A>T | CA345987167 | APOB | c.10183T>A (p.Leu3395Ile) c.5869+4048T>A (n.5869+4048T>A) | gnomAD v4 |
| 2 | g.21006686C>A | CA345987169 | APOB | c.10182G>T (p.Lys3394Asn) c.5869+4047G>T (n.5869+4047G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21006686C= | CA2493474915 | APOB | c.10182G= (p.Lys3394=) c.5869+4047G= (n.5869+4047G=) | |
| 2 | g.21006686C>G | CA345987170 | APOB | c.10182G>C (p.Lys3394Asn) c.5869+4047G>C (n.5869+4047G>C) | ClinVar |
| 2 | g.21006686C>T | CA425343627 | APOB | c.10182G>A (p.Lys3394=) c.5869+4047G>A (n.5869+4047G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006687T>A | CA345987175 | APOB | c.10181A>T (p.Lys3394Met) c.5869+4046A>T (n.5869+4046A>T) | |
| 2 | g.21006687T>C | CA345987173 | APOB | c.10181A>G (p.Lys3394Arg) c.5869+4046A>G (n.5869+4046A>G) | |
| 2 | g.21006687T>G | CA345987172 | APOB | c.10181A>C (p.Lys3394Thr) c.5869+4046A>C (n.5869+4046A>C) | ClinVar dbSNP |
| 2 | g.21006687T= | CA2493474916 | APOB | c.10181A= (p.Lys3394=) c.5869+4046A= (n.5869+4046A=) | |
| 2 | g.21006688T>A | CA345987177 | APOB | c.10180A>T (p.Lys3394Ter) c.5869+4045A>T (n.5869+4045A>T) | |
| 2 | g.21006688T>C | CA345987179 | APOB | c.10180A>G (p.Lys3394Glu) c.5869+4045A>G (n.5869+4045A>G) | gnomAD v4 |
| 2 | g.21006688T>G | CA345987181 | APOB | c.10180A>C (p.Lys3394Gln) c.5869+4045A>C (n.5869+4045A>C) | |
| 2 | g.21006689C>A | CA345987184 | APOB | c.10179G>T (p.Leu3393Phe) c.5869+4044G>T (n.5869+4044G>T) | |
| 2 | g.21006689C= | CA2493474917 | APOB | c.10179G= (p.Leu3393=) c.5869+4044G= (n.5869+4044G=) | |
| 2 | g.21006689C>G | CA345987185 | APOB | c.10179G>C (p.Leu3393Phe) c.5869+4044G>C (n.5869+4044G>C) | |
| 2 | g.21006689C>T | CA042671 | APOB | c.10179G>A (p.Leu3393=) c.5869+4044G>A (n.5869+4044G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006690A>C | CA345987188 | APOB | c.10178T>G (p.Leu3393Trp) c.5869+4043T>G (n.5869+4043T>G) | |
| 2 | g.21006690A>G | CA345987190 | APOB | c.10178T>C (p.Leu3393Ser) c.5869+4043T>C (n.5869+4043T>C) | COSMIC |
| 2 | g.21006690A>T | CA345987192 | APOB | c.10178T>A (p.Leu3393Ter) c.5869+4043T>A (n.5869+4043T>A) | |
| 2 | g.21006691A= | CA2493474918 | APOB | c.10177T= (p.Leu3393=) c.5869+4042T= (n.5869+4042T=) | |
| 2 | g.21006691A>C | CA345987195 | APOB | c.10177T>G (p.Leu3393Val) c.5869+4042T>G (n.5869+4042T>G) | |
| 2 | g.21006691A>G | CA042652 | APOB | c.10177T>C (p.Leu3393=) c.5869+4042T>C (n.5869+4042T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006691A>T | CA345987197 | APOB | c.10177T>A (p.Leu3393Met) c.5869+4042T>A (n.5869+4042T>A) | |
| 2 | g.21006692T>A | CA43496355 | APOB | c.10176A>T (p.Gly3392=) c.5869+4041A>T (n.5869+4041A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006692T>C | CA425343634 | APOB | c.10176A>G (p.Gly3392=) c.5869+4041A>G (n.5869+4041A>G) | |
| 2 | g.21006692T>G | CA425343636 | APOB | c.10176A>C (p.Gly3392=) c.5869+4041A>C (n.5869+4041A>C) | |
| 2 | g.21006692T= | CA2493474919 | APOB | c.10176A= (p.Gly3392=) c.5869+4041A= (n.5869+4041A=) |