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.21006482del | CA2586968759 | APOB | c.10386del (p.Tyr3462Ter) c.5869+4251del (n.5869+4251del) | |
| 2 | g.21006482A>C | CA345986643 | APOB | c.10386T>G (p.Tyr3462Ter) c.5869+4251T>G (n.5869+4251T>G) | |
| 2 | g.21006482A>G | CA425343196 | APOB | c.10386T>C (p.Tyr3462=) c.5869+4251T>C (n.5869+4251T>C) | |
| 2 | g.21006482A>T | CA345986644 | APOB | c.10386T>A (p.Tyr3462Ter) c.5869+4251T>A (n.5869+4251T>A) | |
| 2 | g.21006483T>A | CA345986645 | APOB | c.10385A>T (p.Tyr3462Phe) c.5869+4250A>T (n.5869+4250A>T) | |
| 2 | g.21006483T>C | CA043373 | APOB | c.10385A>G (p.Tyr3462Cys) c.5869+4250A>G (n.5869+4250A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006483T>G | CA345986646 | APOB | c.10385A>C (p.Tyr3462Ser) c.5869+4250A>C (n.5869+4250A>C) | |
| 2 | g.21006483T= | CA2493474807 | APOB | c.10385A= (p.Tyr3462=) c.5869+4250A= (n.5869+4250A=) | |
| 2 | g.21006484A>C | CA345986647 | APOB | c.10384T>G (p.Tyr3462Asp) c.5869+4249T>G (n.5869+4249T>G) | |
| 2 | g.21006484A>G | CA345986648 | APOB | c.10384T>C (p.Tyr3462His) c.5869+4249T>C (n.5869+4249T>C) | |
| 2 | g.21006484A>T | CA345986649 | APOB | c.10384T>A (p.Tyr3462Asn) c.5869+4249T>A (n.5869+4249T>A) | gnomAD v4 |
| 2 | g.21006485C>A | CA345986650 | APOB | c.10383G>T (p.Lys3461Asn) c.5869+4248G>T (n.5869+4248G>T) | |
| 2 | g.21006485C= | CA2493474808 | APOB | c.10383G= (p.Lys3461=) c.5869+4248G= (n.5869+4248G=) | |
| 2 | g.21006485C>G | CA345986651 | APOB | c.10383G>C (p.Lys3461Asn) c.5869+4248G>C (n.5869+4248G>C) | dbSNP |
| 2 | g.21006485C>T | CA425343201 | APOB | c.10383G>A (p.Lys3461=) c.5869+4248G>A (n.5869+4248G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21006486T>A | CA345986652 | APOB | c.10382A>T (p.Lys3461Met) c.5869+4247A>T (n.5869+4247A>T) | |
| 2 | g.21006486T>C | CA345986654 | APOB | c.10382A>G (p.Lys3461Arg) c.5869+4247A>G (n.5869+4247A>G) | |
| 2 | g.21006486T>G | CA345986653 | APOB | c.10382A>C (p.Lys3461Thr) c.5869+4247A>C (n.5869+4247A>C) | |
| 2 | g.21006487T>A | CA345986655 | APOB | c.10381A>T (p.Lys3461Ter) c.5869+4246A>T (n.5869+4246A>T) | |
| 2 | g.21006487T>C | CA345986656 | APOB | c.10381A>G (p.Lys3461Glu) c.5869+4246A>G (n.5869+4246A>G) | |
| 2 | g.21006487T>G | CA345986657 | APOB | c.10381A>C (p.Lys3461Gln) c.5869+4246A>C (n.5869+4246A>C) | |
| 2 | g.21006488A= | CA2493474809 | APOB | c.10380T= (p.Phe3460=) c.5869+4245T= (n.5869+4245T=) | |
| 2 | g.21006488A>C | CA345986658 | APOB | c.10380T>G (p.Phe3460Leu) c.5869+4245T>G (n.5869+4245T>G) | |
| 2 | g.21006488A>G | CA425343207 | APOB | c.10380T>C (p.Phe3460=) c.5869+4245T>C (n.5869+4245T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006488A>T | CA345986659 | APOB | c.10380T>A (p.Phe3460Leu) c.5869+4245T>A (n.5869+4245T>A) | dbSNP |
| 2 | g.21006489A>C | CA345986660 | APOB | c.10379T>G (p.Phe3460Cys) c.5869+4244T>G (n.5869+4244T>G) | gnomAD v4 |
| 2 | g.21006489A>G | CA345986661 | APOB | c.10379T>C (p.Phe3460Ser) c.5869+4244T>C (n.5869+4244T>C) | |
| 2 | g.21006489A>T | CA345986662 | APOB | c.10379T>A (p.Phe3460Tyr) c.5869+4244T>A (n.5869+4244T>A) | COSMIC |
| 2 | g.21006490A= | CA2493474810 | APOB | c.10378T= (p.Phe3460=) c.5869+4243T= (n.5869+4243T=) | |
| 2 | g.21006490A>C | CA345986663 | APOB | c.10378T>G (p.Phe3460Val) c.5869+4243T>G (n.5869+4243T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006490A>G | CA345986664 | APOB | c.10378T>C (p.Phe3460Leu) c.5869+4243T>C (n.5869+4243T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006490A>T | CA345986665 | APOB | c.10378T>A (p.Phe3460Ile) c.5869+4243T>A (n.5869+4243T>A) | |
| 2 | g.21006491T>A | CA345986666 | APOB | c.10377A>T (p.Glu3459Asp) c.5869+4242A>T (n.5869+4242A>T) | |
| 2 | g.21006491T>C | CA425343210 | APOB | c.10377A>G (p.Glu3459=) c.5869+4242A>G (n.5869+4242A>G) | |
| 2 | g.21006491T>G | CA345986667 | APOB | c.10377A>C (p.Glu3459Asp) c.5869+4242A>C (n.5869+4242A>C) | |
| 2 | g.21006492T>A | CA345986668 | APOB | c.10376A>T (p.Glu3459Val) c.5869+4241A>T (n.5869+4241A>T) | |
| 2 | g.21006492T>C | CA345986670 | APOB | c.10376A>G (p.Glu3459Gly) c.5869+4241A>G (n.5869+4241A>G) | gnomAD v4 |
| 2 | g.21006492T>G | CA345986669 | APOB | c.10376A>C (p.Glu3459Ala) c.5869+4241A>C (n.5869+4241A>C) | |
| 2 | g.21006493C>A | CA345986671 | APOB | c.10375G>T (p.Glu3459Ter) c.5869+4240G>T (n.5869+4240G>T) | |
| 2 | g.21006493C>G | CA345986672 | APOB | c.10375G>C (p.Glu3459Gln) c.5869+4240G>C (n.5869+4240G>C) | |
| 2 | g.21006493C>T | CA345986673 | APOB | c.10375G>A (p.Glu3459Lys) c.5869+4240G>A (n.5869+4240G>A) | gnomAD v4 |
| 2 | g.21006494C>A | CA345986674 | APOB | c.10374G>T (p.Met3458Ile) c.5869+4239G>T (n.5869+4239G>T) | dbSNP |
| 2 | g.21006494C= | CA2493474811 | APOB | c.10374G= (p.Met3458=) c.5869+4239G= (n.5869+4239G=) | |
| 2 | g.21006494C>G | CA345986675 | APOB | c.10374G>C (p.Met3458Ile) c.5869+4239G>C (n.5869+4239G>C) | |
| 2 | g.21006494C>T | CA345986676 | APOB | c.10374G>A (p.Met3458Ile) c.5869+4239G>A (n.5869+4239G>A) | gnomAD v4 COSMIC |
| 2 | g.21006495A>C | CA345986677 | APOB | c.10373T>G (p.Met3458Arg) c.5869+4238T>G (n.5869+4238T>G) | |
| 2 | g.21006495A>G | CA345986678 | APOB | c.10373T>C (p.Met3458Thr) c.5869+4238T>C (n.5869+4238T>C) | gnomAD v4 |
| 2 | g.21006495A>T | CA345986679 | APOB | c.10373T>A (p.Met3458Lys) c.5869+4238T>A (n.5869+4238T>A) | |
| 2 | g.21006496T>A | CA043363 | APOB | c.10372A>T (p.Met3458Leu) c.5869+4237A>T (n.5869+4237A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006496T>C | CA345986680 | APOB | c.10372A>G (p.Met3458Val) c.5869+4237A>G (n.5869+4237A>G) | dbSNP |
| 2 | g.21006496T>G | CA345986681 | APOB | c.10372A>C (p.Met3458Leu) c.5869+4237A>C (n.5869+4237A>C) | gnomAD v4 |
| 2 | g.21006496T= | CA2493474812 | APOB | c.10372A= (p.Met3458=) c.5869+4237A= (n.5869+4237A=) | |
| 2 | g.21006497G>A | CA043352 | APOB | c.10371C>T (p.Ser3457=) c.5869+4236C>T (n.5869+4236C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006497G>C | CA425343219 | APOB | c.10371C>G (p.Ser3457=) c.5869+4236C>G (n.5869+4236C>G) | |
| 2 | g.21006497G= | CA2493474813 | APOB | c.10371C= (p.Ser3457=) c.5869+4236C= (n.5869+4236C=) | |
| 2 | g.21006497G>T | CA425343221 | APOB | c.10371C>A (p.Ser3457=) c.5869+4236C>A (n.5869+4236C>A) | |
| 2 | g.21006498G>A | CA345986683 | APOB | c.10370C>T (p.Ser3457Phe) c.5869+4235C>T (n.5869+4235C>T) | dbSNP |
| 2 | g.21006498G>C | CA043335 | APOB | c.10370C>G (p.Ser3457Cys) c.5869+4235C>G (n.5869+4235C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006498G= | CA2493474814 | APOB | c.10370C= (p.Ser3457=) c.5869+4235C= (n.5869+4235C=) | |
| 2 | g.21006498G>T | CA345986682 | APOB | c.10370C>A (p.Ser3457Tyr) c.5869+4235C>A (n.5869+4235C>A) | |
| 2 | g.21006499A>C | CA345986684 | APOB | c.10369T>G (p.Ser3457Ala) c.5869+4234T>G (n.5869+4234T>G) | |
| 2 | g.21006499A>G | CA345986685 | APOB | c.10369T>C (p.Ser3457Pro) c.5869+4234T>C (n.5869+4234T>C) | |
| 2 | g.21006499A>T | CA345986686 | APOB | c.10369T>A (p.Ser3457Thr) c.5869+4234T>A (n.5869+4234T>A) | |
| 2 | g.21006500G>A | CA425343223 | APOB | c.10368C>T (p.Ser3456=) c.5869+4233C>T (n.5869+4233C>T) | gnomAD v4 COSMIC |
| 2 | g.21006500G>C | CA425343224 | APOB | c.10368C>G (p.Ser3456=) c.5869+4233C>G (n.5869+4233C>G) | |
| 2 | g.21006500G= | CA2493474815 | APOB | c.10368C= (p.Ser3456=) c.5869+4233C= (n.5869+4233C=) | |
| 2 | g.21006500G>T | CA425343225 | APOB | c.10368C>A (p.Ser3456=) c.5869+4233C>A (n.5869+4233C>A) | dbSNP |
| 2 | g.21006501G>A | CA345986687 | APOB | c.10367C>T (p.Ser3456Phe) c.5869+4232C>T (n.5869+4232C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21006501G>C | CA345986688 | APOB | c.10367C>G (p.Ser3456Cys) c.5869+4232C>G (n.5869+4232C>G) | |
| 2 | g.21006501G= | CA2493474816 | APOB | c.10367C= (p.Ser3456=) c.5869+4232C= (n.5869+4232C=) | |
| 2 | g.21006501G>T | CA345986689 | APOB | c.10367C>A (p.Ser3456Tyr) c.5869+4232C>A (n.5869+4232C>A) | |
| 2 | g.21006502A>C | CA345986690 | APOB | c.10366T>G (p.Ser3456Ala) c.5869+4231T>G (n.5869+4231T>G) | |
| 2 | g.21006502A>G | CA345986691 | APOB | c.10366T>C (p.Ser3456Pro) c.5869+4231T>C (n.5869+4231T>C) | |
| 2 | g.21006502A>T | CA345986692 | APOB | c.10366T>A (p.Ser3456Thr) c.5869+4231T>A (n.5869+4231T>A) | |
| 2 | g.21006502_21006505dup | CA2658076149 | APOB | c.10363_10366dup (p.Ser3456PhefsTer7) c.5869+4228_5869+4231dup (n.5869+4228_5869+4231dup) | gnomAD v4 |
| 2 | g.21006503A= | CA2493474817 | APOB | c.10365T= (p.Ser3455=) c.5869+4230T= (n.5869+4230T=) | |
| 2 | g.21006503A>C | CA425343228 | APOB | c.10365T>G (p.Ser3455=) c.5869+4230T>G (n.5869+4230T>G) | gnomAD v4 |
| 2 | g.21006503A>G | CA425343231 | APOB | c.10365T>C (p.Ser3455=) c.5869+4230T>C (n.5869+4230T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006503A>T | CA425343230 | APOB | c.10365T>A (p.Ser3455=) c.5869+4230T>A (n.5869+4230T>A) | dbSNP |
| 2 | g.21006504G>A | CA345986693 | APOB | c.10364C>T (p.Ser3455Phe) c.5869+4229C>T (n.5869+4229C>T) | |
| 2 | g.21006504G>C | CA345986694 | APOB | c.10364C>G (p.Ser3455Cys) c.5869+4229C>G (n.5869+4229C>G) | |
| 2 | g.21006504G>T | CA345986695 | APOB | c.10364C>A (p.Ser3455Tyr) c.5869+4229C>A (n.5869+4229C>A) | COSMIC |
| 2 | g.21006505A= | CA2493474818 | APOB | c.10363T= (p.Ser3455=) c.5869+4228T= (n.5869+4228T=) | |
| 2 | g.21006505A>C | CA345986696 | APOB | c.10363T>G (p.Ser3455Ala) c.5869+4228T>G (n.5869+4228T>G) | |
| 2 | g.21006505A>G | CA43495909 | APOB | c.10363T>C (p.Ser3455Pro) c.5869+4228T>C (n.5869+4228T>C) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21006505A>T | CA345986697 | APOB | c.10363T>A (p.Ser3455Thr) c.5869+4228T>A (n.5869+4228T>A) | |
| 2 | g.21006506G>A | CA43495916 | APOB | c.10362C>T (p.Val3454=) c.5869+4227C>T (n.5869+4227C>T) | dbSNP COSMIC |
| 2 | g.21006506G>C | CA043317 | APOB | c.10362C>G (p.Val3454=) c.5869+4227C>G (n.5869+4227C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006506G= | CA2493474819 | APOB | c.10362C= (p.Val3454=) c.5869+4227C= (n.5869+4227C=) | |
| 2 | g.21006506G>T | CA425343234 | APOB | c.10362C>A (p.Val3454=) c.5869+4227C>A (n.5869+4227C>A) | |
| 2 | g.21006507A>C | CA345986698 | APOB | c.10361T>G (p.Val3454Gly) c.5869+4226T>G (n.5869+4226T>G) | |
| 2 | g.21006507A>G | CA345986699 | APOB | c.10361T>C (p.Val3454Ala) c.5869+4226T>C (n.5869+4226T>C) | gnomAD v4 |
| 2 | g.21006507A>T | CA345986700 | APOB | c.10361T>A (p.Val3454Asp) c.5869+4226T>A (n.5869+4226T>A) | |
| 2 | g.21006508C>A | CA345986701 | APOB | c.10360G>T (p.Val3454Phe) c.5869+4225G>T (n.5869+4225G>T) | |
| 2 | g.21006508C>G | CA345986702 | APOB | c.10360G>C (p.Val3454Leu) c.5869+4225G>C (n.5869+4225G>C) | |
| 2 | g.21006508C>T | CA345986703 | APOB | c.10360G>A (p.Val3454Ile) c.5869+4225G>A (n.5869+4225G>A) | ClinVar gnomAD v4 |
| 2 | g.21006509A= | CA2493474820 | APOB | c.10359T= (p.Thr3453=) c.5869+4224T= (n.5869+4224T=) | |
| 2 | g.21006509A>C | CA425343238 | APOB | c.10359T>G (p.Thr3453=) c.5869+4224T>G (n.5869+4224T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006509A>G | CA425343240 | APOB | c.10359T>C (p.Thr3453=) c.5869+4224T>C (n.5869+4224T>C) | |
| 2 | g.21006509A>T | CA425343242 | APOB | c.10359T>A (p.Thr3453=) c.5869+4224T>A (n.5869+4224T>A) | |
| 2 | g.21006510G>A | CA345986704 | APOB | c.10358C>T (p.Thr3453Ile) c.5869+4223C>T (n.5869+4223C>T) | ClinVar |
| 2 | g.21006510G>C | CA345986705 | APOB | c.10358C>G (p.Thr3453Ser) c.5869+4223C>G (n.5869+4223C>G) | |
| 2 | g.21006510G>T | CA345986706 | APOB | c.10358C>A (p.Thr3453Asn) c.5869+4223C>A (n.5869+4223C>A) | |
| 2 | g.21006511T>A | CA345986707 | APOB | c.10357A>T (p.Thr3453Ser) c.5869+4222A>T (n.5869+4222A>T) | |
| 2 | g.21006511T>C | CA345986708 | APOB | c.10357A>G (p.Thr3453Ala) c.5869+4222A>G (n.5869+4222A>G) | ClinVar |
| 2 | g.21006511T>G | CA345986709 | APOB | c.10357A>C (p.Thr3453Pro) c.5869+4222A>C (n.5869+4222A>C) | |
| 2 | g.21006512A= | CA2493474821 | APOB | c.10356T= (p.Pro3452=) c.5869+4221T= (n.5869+4221T=) | |
| 2 | g.21006512A>C | CA425343246 | APOB | c.10356T>G (p.Pro3452=) c.5869+4221T>G (n.5869+4221T>G) | |
| 2 | g.21006512A>G | CA425343247 | APOB | c.10356T>C (p.Pro3452=) c.5869+4221T>C (n.5869+4221T>C) | dbSNP |
| 2 | g.21006512A>T | CA425343244 | APOB | c.10356T>A (p.Pro3452=) c.5869+4221T>A (n.5869+4221T>A) | |
| 2 | g.21006513G>A | CA043305 | APOB | c.10355C>T (p.Pro3452Leu) c.5869+4220C>T (n.5869+4220C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006513G>C | CA043289 | APOB | c.10355C>G (p.Pro3452Arg) c.5869+4220C>G (n.5869+4220C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006513G= | CA2493474822 | APOB | c.10355C= (p.Pro3452=) c.5869+4220C= (n.5869+4220C=) | |
| 2 | g.21006513G>T | CA345986710 | APOB | c.10355C>A (p.Pro3452His) c.5869+4220C>A (n.5869+4220C>A) | |
| 2 | g.21006514G>A | CA345986711 | APOB | c.10354C>T (p.Pro3452Ser) c.5869+4219C>T (n.5869+4219C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006514G>C | CA043283 | APOB | c.10354C>G (p.Pro3452Ala) c.5869+4219C>G (n.5869+4219C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006514G= | CA2493474823 | APOB | c.10354C= (p.Pro3452=) c.5869+4219C= (n.5869+4219C=) | |
| 2 | g.21006514G>T | CA345986712 | APOB | c.10354C>A (p.Pro3452Thr) c.5869+4219C>A (n.5869+4219C>A) | |
| 2 | g.21006515T>A | CA345986713 | APOB | c.10353A>T (p.Lys3451Asn) c.5869+4218A>T (n.5869+4218A>T) | |
| 2 | g.21006515T>C | CA425343252 | APOB | c.10353A>G (p.Lys3451=) c.5869+4218A>G (n.5869+4218A>G) | |
| 2 | g.21006515T>G | CA345986714 | APOB | c.10353A>C (p.Lys3451Asn) c.5869+4218A>C (n.5869+4218A>C) | gnomAD v4 |
| 2 | g.21006516T>A | CA345986715 | APOB | c.10352A>T (p.Lys3451Ile) c.5869+4217A>T (n.5869+4217A>T) | |
| 2 | g.21006516T>C | CA345986716 | APOB | c.10352A>G (p.Lys3451Arg) c.5869+4217A>G (n.5869+4217A>G) | |
| 2 | g.21006516T>G | CA345986717 | APOB | c.10352A>C (p.Lys3451Thr) c.5869+4217A>C (n.5869+4217A>C) | dbSNP gnomAD v4 |
| 2 | g.21006516T= | CA2493474824 | APOB | c.10352A= (p.Lys3451=) c.5869+4217A= (n.5869+4217A=) | |
| 2 | g.21006517T>A | CA345986718 | APOB | c.10351A>T (p.Lys3451Ter) c.5869+4216A>T (n.5869+4216A>T) | |
| 2 | g.21006517T>C | CA345986719 | APOB | c.10351A>G (p.Lys3451Glu) c.5869+4216A>G (n.5869+4216A>G) | |
| 2 | g.21006517T>G | CA043268 | APOB | c.10351A>C (p.Lys3451Gln) c.5869+4216A>C (n.5869+4216A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006517T= | CA2493474825 | APOB | c.10351A= (p.Lys3451=) c.5869+4216A= (n.5869+4216A=) | |
| 2 | g.21006518T>A | CA425343256 | APOB | c.10350A>T (p.Ser3450=) c.5869+4215A>T (n.5869+4215A>T) | |
| 2 | g.21006518T>C | CA425343257 | APOB | c.10350A>G (p.Ser3450=) c.5869+4215A>G (n.5869+4215A>G) | |
| 2 | g.21006518T>G | CA425343258 | APOB | c.10350A>C (p.Ser3450=) c.5869+4215A>C (n.5869+4215A>C) | dbSNP gnomAD v4 |
| 2 | g.21006518T= | CA2493474826 | APOB | c.10350A= (p.Ser3450=) c.5869+4215A= (n.5869+4215A=) | |
| 2 | g.21006519G>A | CA345986721 | APOB | c.10349C>T (p.Ser3450Leu) c.5869+4214C>T (n.5869+4214C>T) | |
| 2 | g.21006519G>C | CA345986722 | APOB | c.10349C>G (p.Ser3450Ter) c.5869+4214C>G (n.5869+4214C>G) | |
| 2 | g.21006519G>T | CA345986720 | APOB | c.10349C>A (p.Ser3450Ter) c.5869+4214C>A (n.5869+4214C>A) | |
| 2 | g.21006520A>C | CA345986723 | APOB | c.10348T>G (p.Ser3450Ala) c.5869+4213T>G (n.5869+4213T>G) | |
| 2 | g.21006520A>G | CA345986724 | APOB | c.10348T>C (p.Ser3450Pro) c.5869+4213T>C (n.5869+4213T>C) | |
| 2 | g.21006520A>T | CA345986725 | APOB | c.10348T>A (p.Ser3450Thr) c.5869+4213T>A (n.5869+4213T>A) | |
| 2 | g.21006521C>A | CA345986726 | APOB | c.10347G>T (p.Lys3449Asn) c.5869+4212G>T (n.5869+4212G>T) | |
| 2 | g.21006521C>G | CA345986727 | APOB | c.10347G>C (p.Lys3449Asn) c.5869+4212G>C (n.5869+4212G>C) | gnomAD v4 |
| 2 | g.21006521C>T | CA425343263 | APOB | c.10347G>A (p.Lys3449=) c.5869+4212G>A (n.5869+4212G>A) | gnomAD v4 |
| 2 | g.21006522T>A | CA345986728 | APOB | c.10346A>T (p.Lys3449Met) c.5869+4211A>T (n.5869+4211A>T) | |
| 2 | g.21006522T>C | CA345986729 | APOB | c.10346A>G (p.Lys3449Arg) c.5869+4211A>G (n.5869+4211A>G) | gnomAD v4 |
| 2 | g.21006522T>G | CA345986730 | APOB | c.10346A>C (p.Lys3449Thr) c.5869+4211A>C (n.5869+4211A>C) | |
| 2 | g.21006523T>A | CA345986731 | APOB | c.10345A>T (p.Lys3449Ter) c.5869+4210A>T (n.5869+4210A>T) | |
| 2 | g.21006523T>C | CA345986732 | APOB | c.10345A>G (p.Lys3449Glu) c.5869+4210A>G (n.5869+4210A>G) | ClinVar dbSNP |
| 2 | g.21006523T>G | CA43495963 | APOB | c.10345A>C (p.Lys3449Gln) c.5869+4210A>C (n.5869+4210A>C) | dbSNP |
| 2 | g.21006523T= | CA2493474827 | APOB | c.10345A= (p.Lys3449=) c.5869+4210A= (n.5869+4210A=) | |
| 2 | g.21006524G>A | CA043251 | APOB | c.10344C>T (p.Thr3448=) c.5869+4209C>T (n.5869+4209C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006524G>C | CA425343269 | APOB | c.10344C>G (p.Thr3448=) c.5869+4209C>G (n.5869+4209C>G) | |
| 2 | g.21006524G= | CA2493474828 | APOB | c.10344C= (p.Thr3448=) c.5869+4209C= (n.5869+4209C=) | |
| 2 | g.21006524G>T | CA425343271 | APOB | c.10344C>A (p.Thr3448=) c.5869+4209C>A (n.5869+4209C>A) | |
| 2 | g.21006525G>A | CA345986734 | APOB | c.10343C>T (p.Thr3448Ile) c.5869+4208C>T (n.5869+4208C>T) | |
| 2 | g.21006525G>C | CA345986735 | APOB | c.10343C>G (p.Thr3448Ser) c.5869+4208C>G (n.5869+4208C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006525G= | CA2493474829 | APOB | c.10343C= (p.Thr3448=) c.5869+4208C= (n.5869+4208C=) | |
| 2 | g.21006525G>T | CA345986733 | APOB | c.10343C>A (p.Thr3448Asn) c.5869+4208C>A (n.5869+4208C>A) | COSMIC |
| 2 | g.21006526T>A | CA345986736 | APOB | c.10342A>T (p.Thr3448Ser) c.5869+4207A>T (n.5869+4207A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006526T>C | CA345986737 | APOB | c.10342A>G (p.Thr3448Ala) c.5869+4207A>G (n.5869+4207A>G) | |
| 2 | g.21006526T>G | CA345986738 | APOB | c.10342A>C (p.Thr3448Pro) c.5869+4207A>C (n.5869+4207A>C) | |
| 2 | g.21006526T= | CA2493474830 | APOB | c.10342A= (p.Thr3448=) c.5869+4207A= (n.5869+4207A=) | |
| 2 | g.21006527A= | CA2493474831 | APOB | c.10341T= (p.Asn3447=) c.5869+4206T= (n.5869+4206T=) | |
| 2 | g.21006527A>C | CA345986739 | APOB | c.10341T>G (p.Asn3447Lys) c.5869+4206T>G (n.5869+4206T>G) | |
| 2 | g.21006527A>G | CA425343276 | APOB | c.10341T>C (p.Asn3447=) c.5869+4206T>C (n.5869+4206T>C) | |
| 2 | g.21006527A>T | CA345986740 | APOB | c.10341T>A (p.Asn3447Lys) c.5869+4206T>A (n.5869+4206T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006528T>A | CA345986743 | APOB | c.10340A>T (p.Asn3447Ile) c.5869+4205A>T (n.5869+4205A>T) | |
| 2 | g.21006528T>C | CA345986742 | APOB | c.10340A>G (p.Asn3447Ser) c.5869+4205A>G (n.5869+4205A>G) | |
| 2 | g.21006528T>G | CA345986741 | APOB | c.10340A>C (p.Asn3447Thr) c.5869+4205A>C (n.5869+4205A>C) | |
| 2 | g.21006529T>A | CA345986744 | APOB | c.10339A>T (p.Asn3447Tyr) c.5869+4204A>T (n.5869+4204A>T) | |
| 2 | g.21006529T>C | CA345986745 | APOB | c.10339A>G (p.Asn3447Asp) c.5869+4204A>G (n.5869+4204A>G) | |
| 2 | g.21006529T>G | CA345986746 | APOB | c.10339A>C (p.Asn3447His) c.5869+4204A>C (n.5869+4204A>C) | |
| 2 | g.21006530T>A | CA425343284 | APOB | c.10338A>T (p.Gly3446=) c.5869+4203A>T (n.5869+4203A>T) | |
| 2 | g.21006530T>C | CA425343285 | APOB | c.10338A>G (p.Gly3446=) c.5869+4203A>G (n.5869+4203A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006530T>G | CA425343286 | APOB | c.10338A>C (p.Gly3446=) c.5869+4203A>C (n.5869+4203A>C) | |
| 2 | g.21006530T= | CA2493474832 | APOB | c.10338A= (p.Gly3446=) c.5869+4203A= (n.5869+4203A=) | |
| 2 | g.21006531C>A | CA345986747 | APOB | c.10337G>T (p.Gly3446Val) c.5869+4202G>T (n.5869+4202G>T) | |
| 2 | g.21006531C>G | CA345986748 | APOB | c.10337G>C (p.Gly3446Ala) c.5869+4202G>C (n.5869+4202G>C) | |
| 2 | g.21006531C>T | CA345986749 | APOB | c.10337G>A (p.Gly3446Glu) c.5869+4202G>A (n.5869+4202G>A) | COSMIC |
| 2 | g.21006532C>A | CA345986752 | APOB | c.10336G>T (p.Gly3446Ter) c.5869+4201G>T (n.5869+4201G>T) | |
| 2 | g.21006532C= | CA2493474833 | APOB | c.10336G= (p.Gly3446=) c.5869+4201G= (n.5869+4201G=) | |
| 2 | g.21006532C>G | CA345986751 | APOB | c.10336G>C (p.Gly3446Arg) c.5869+4201G>C (n.5869+4201G>C) | |
| 2 | g.21006532C>T | CA345986750 | APOB | c.10336G>A (p.Gly3446Arg) c.5869+4201G>A (n.5869+4201G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006533A= | CA2493474834 | APOB | c.10335T= (p.Asn3445=) c.5869+4200T= (n.5869+4200T=) | |
| 2 | g.21006533A>C | CA345986753 | APOB | c.10335T>G (p.Asn3445Lys) c.5869+4200T>G (n.5869+4200T>G) | gnomAD v4 |
| 2 | g.21006533A>G | CA425343290 | APOB | c.10335T>C (p.Asn3445=) c.5869+4200T>C (n.5869+4200T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006533A>T | CA345986754 | APOB | c.10335T>A (p.Asn3445Lys) c.5869+4200T>A (n.5869+4200T>A) | |
| 2 | g.21006534T>A | CA345986755 | APOB | c.10334A>T (p.Asn3445Ile) c.5869+4199A>T (n.5869+4199A>T) | |
| 2 | g.21006534T>C | CA345986757 | APOB | c.10334A>G (p.Asn3445Ser) c.5869+4199A>G (n.5869+4199A>G) | |
| 2 | g.21006534T>G | CA345986756 | APOB | c.10334A>C (p.Asn3445Thr) c.5869+4199A>C (n.5869+4199A>C) | dbSNP |
| 2 | g.21006534T= | CA2493474835 | APOB | c.10334A= (p.Asn3445=) c.5869+4199A= (n.5869+4199A=) | |
| 2 | g.21006535T>A | CA345986758 | APOB | c.10333A>T (p.Asn3445Tyr) c.5869+4198A>T (n.5869+4198A>T) | |
| 2 | g.21006535T>C | CA043220 | APOB | c.10333A>G (p.Asn3445Asp) c.5869+4198A>G (n.5869+4198A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006535T>G | CA345986759 | APOB | c.10333A>C (p.Asn3445His) c.5869+4198A>C (n.5869+4198A>C) | |
| 2 | g.21006535T= | CA2493474836 | APOB | c.10333A= (p.Asn3445=) c.5869+4198A= (n.5869+4198A=) | |
| 2 | g.21006536A= | CA2493474837 | APOB | c.10332T= (p.Leu3444=) c.5869+4197T= (n.5869+4197T=) | |
| 2 | g.21006536A>C | CA43495995 | APOB | c.10332T>G (p.Leu3444=) c.5869+4197T>G (n.5869+4197T>G) | dbSNP |
| 2 | g.21006536A>G | CA043199 | APOB | c.10332T>C (p.Leu3444=) c.5869+4197T>C (n.5869+4197T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006536A>T | CA425343298 | APOB | c.10332T>A (p.Leu3444=) c.5869+4197T>A (n.5869+4197T>A) | |
| 2 | g.21006537A= | CA2493474838 | APOB | c.10331T= (p.Leu3444=) c.5869+4196T= (n.5869+4196T=) | |
| 2 | g.21006537A>C | CA345986761 | APOB | c.10331T>G (p.Leu3444Arg) c.5869+4196T>G (n.5869+4196T>G) | |
| 2 | g.21006537A>G | CA345986760 | APOB | c.10331T>C (p.Leu3444Pro) c.5869+4196T>C (n.5869+4196T>C) | COSMIC |
| 2 | g.21006537A>T | CA345986762 | APOB | c.10331T>A (p.Leu3444His) c.5869+4196T>A (n.5869+4196T>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21006538G>A | CA345986763 | APOB | c.10330C>T (p.Leu3444Phe) c.5869+4195C>T (n.5869+4195C>T) | |
| 2 | g.21006538G>C | CA345986765 | APOB | c.10330C>G (p.Leu3444Val) c.5869+4195C>G (n.5869+4195C>G) | gnomAD v4 |
| 2 | g.21006538G= | CA2493474839 | APOB | c.10330C= (p.Leu3444=) c.5869+4195C= (n.5869+4195C=) | |
| 2 | g.21006538G>T | CA345986764 | APOB | c.10330C>A (p.Leu3444Ile) c.5869+4195C>A (n.5869+4195C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006539T>A | CA345986766 | APOB | c.10329A>T (p.Glu3443Asp) c.5869+4194A>T (n.5869+4194A>T) | |
| 2 | g.21006539T>C | CA425343302 | APOB | c.10329A>G (p.Glu3443=) c.5869+4194A>G (n.5869+4194A>G) | |
| 2 | g.21006539T>G | CA345986767 | APOB | c.10329A>C (p.Glu3443Asp) c.5869+4194A>C (n.5869+4194A>C) | |
| 2 | g.21006540T>A | CA345986768 | APOB | c.10328A>T (p.Glu3443Val) c.5869+4193A>T (n.5869+4193A>T) | |
| 2 | g.21006540T>C | CA345986769 | APOB | c.10328A>G (p.Glu3443Gly) c.5869+4193A>G (n.5869+4193A>G) | |
| 2 | g.21006540T>G | CA345986770 | APOB | c.10328A>C (p.Glu3443Ala) c.5869+4193A>C (n.5869+4193A>C) | |
| 2 | g.21006541C>A | CA345986771 | APOB | c.10327G>T (p.Glu3443Ter) c.5869+4192G>T (n.5869+4192G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21006541C>G | CA345986772 | APOB | c.10327G>C (p.Glu3443Gln) c.5869+4192G>C (n.5869+4192G>C) | |
| 2 | g.21006541C>T | CA345986773 | APOB | c.10327G>A (p.Glu3443Lys) c.5869+4192G>A (n.5869+4192G>A) | gnomAD v4 |
| 2 | g.21006542T>A | CA345986774 | APOB | c.10326A>T (p.Gln3442His) c.5869+4191A>T (n.5869+4191A>T) | |
| 2 | g.21006542T>C | CA043188 | APOB | c.10326A>G (p.Gln3442=) c.5869+4191A>G (n.5869+4191A>G) | ClinVar dbSNP ExAC gnomAD v4 |
| 2 | g.21006542T>G | CA345986775 | APOB | c.10326A>C (p.Gln3442His) c.5869+4191A>C (n.5869+4191A>C) | COSMIC |
| 2 | g.21006542T= | CA2493474840 | APOB | c.10326A= (p.Gln3442=) c.5869+4191A= (n.5869+4191A=) | |
| 2 | g.21006543T>A | CA345986778 | APOB | c.10325A>T (p.Gln3442Leu) c.5869+4190A>T (n.5869+4190A>T) | |
| 2 | g.21006543T>C | CA345986776 | APOB | c.10325A>G (p.Gln3442Arg) c.5869+4190A>G (n.5869+4190A>G) | |
| 2 | g.21006543T>G | CA345986777 | APOB | c.10325A>C (p.Gln3442Pro) c.5869+4190A>C (n.5869+4190A>C) | |
| 2 | g.21006544G>A | CA345986779 | APOB | c.10324C>T (p.Gln3442Ter) c.5869+4189C>T (n.5869+4189C>T) | |
| 2 | g.21006544G>C | CA345986780 | APOB | c.10324C>G (p.Gln3442Glu) c.5869+4189C>G (n.5869+4189C>G) | |
| 2 | g.21006544G= | CA2493474841 | APOB | c.10324C= (p.Gln3442=) c.5869+4189C= (n.5869+4189C=) | |
| 2 | g.21006544G>T | CA345986781 | APOB | c.10324C>A (p.Gln3442Lys) c.5869+4189C>A (n.5869+4189C>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21006545C>A | CA345986782 | APOB | c.10323G>T (p.Lys3441Asn) c.5869+4188G>T (n.5869+4188G>T) | |
| 2 | g.21006545C= | CA2493474842 | APOB | c.10323G= (p.Lys3441=) c.5869+4188G= (n.5869+4188G=) | |
| 2 | g.21006545C>G | CA345986783 | APOB | c.10323G>C (p.Lys3441Asn) c.5869+4188G>C (n.5869+4188G>C) | |
| 2 | g.21006545C>T | CA425343307 | APOB | c.10323G>A (p.Lys3441=) c.5869+4188G>A (n.5869+4188G>A) | ClinVar dbSNP |
| 2 | g.21006546T>A | CA345986784 | APOB | c.10322A>T (p.Lys3441Met) c.5869+4187A>T (n.5869+4187A>T) | |
| 2 | g.21006546T>C | CA345986785 | APOB | c.10322A>G (p.Lys3441Arg) c.5869+4187A>G (n.5869+4187A>G) | |
| 2 | g.21006546T>G | CA345986786 | APOB | c.10322A>C (p.Lys3441Thr) c.5869+4187A>C (n.5869+4187A>C) | |
| 2 | g.21006547T>A | CA345986787 | APOB | c.10321A>T (p.Lys3441Ter) c.5869+4186A>T (n.5869+4186A>T) | |
| 2 | g.21006547T>C | CA345986788 | APOB | c.10321A>G (p.Lys3441Glu) c.5869+4186A>G (n.5869+4186A>G) | |
| 2 | g.21006547T>G | CA345986789 | APOB | c.10321A>C (p.Lys3441Gln) c.5869+4186A>C (n.5869+4186A>C) | |
| 2 | g.21006548G>A | CA043171 | APOB | c.10320C>T (p.Phe3440=) c.5869+4185C>T (n.5869+4185C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21006548G>C | CA345986791 | APOB | c.10320C>G (p.Phe3440Leu) c.5869+4185C>G (n.5869+4185C>G) | |
| 2 | g.21006548G= | CA2493474843 | APOB | c.10320C= (p.Phe3440=) c.5869+4185C= (n.5869+4185C=) | |
| 2 | g.21006548G>T | CA345986790 | APOB | c.10320C>A (p.Phe3440Leu) c.5869+4185C>A (n.5869+4185C>A) | |
| 2 | g.21006549A>C | CA345986792 | APOB | c.10319T>G (p.Phe3440Cys) c.5869+4184T>G (n.5869+4184T>G) | |
| 2 | g.21006549A>G | CA345986793 | APOB | c.10319T>C (p.Phe3440Ser) c.5869+4184T>C (n.5869+4184T>C) | |
| 2 | g.21006549A>T | CA345986794 | APOB | c.10319T>A (p.Phe3440Tyr) c.5869+4184T>A (n.5869+4184T>A) | |
| 2 | g.21006550A= | CA2493474844 | APOB | c.10318T= (p.Phe3440=) c.5869+4183T= (n.5869+4183T=) | |
| 2 | g.21006550A>C | CA43496047 | APOB | c.10318T>G (p.Phe3440Val) c.5869+4183T>G (n.5869+4183T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21006550A>G | CA345986795 | APOB | c.10318T>C (p.Phe3440Leu) c.5869+4183T>C (n.5869+4183T>C) | |
| 2 | g.21006550A>T | CA345986796 | APOB | c.10318T>A (p.Phe3440Ile) c.5869+4183T>A (n.5869+4183T>A) | |
| 2 | g.21006551A= | CA2493474845 | APOB | c.10317T= (p.Asn3439=) c.5869+4182T= (n.5869+4182T=) | |
| 2 | g.21006551A>C | CA345986798 | APOB | c.10317T>G (p.Asn3439Lys) c.5869+4182T>G (n.5869+4182T>G) | |
| 2 | g.21006551A>G | CA425343321 | APOB | c.10317T>C (p.Asn3439=) c.5869+4182T>C (n.5869+4182T>C) | ClinVar dbSNP |
| 2 | g.21006551A>T | CA345986797 | APOB | c.10317T>A (p.Asn3439Lys) c.5869+4182T>A (n.5869+4182T>A) | |
| 2 | g.21006552T>A | CA345986799 | APOB | c.10316A>T (p.Asn3439Ile) c.5869+4181A>T (n.5869+4181A>T) | |
| 2 | g.21006552T>C | CA345986800 | APOB | c.10316A>G (p.Asn3439Ser) c.5869+4181A>G (n.5869+4181A>G) | |
| 2 | g.21006552T>G | CA345986801 | APOB | c.10316A>C (p.Asn3439Thr) c.5869+4181A>C (n.5869+4181A>C) | |
| 2 | g.21006553T>A | CA345986802 | APOB | c.10315A>T (p.Asn3439Tyr) c.5869+4180A>T (n.5869+4180A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006553T>C | CA345986803 | APOB | c.10315A>G (p.Asn3439Asp) c.5869+4180A>G (n.5869+4180A>G) | dbSNP |
| 2 | g.21006553T>G | CA345986804 | APOB | c.10315A>C (p.Asn3439His) c.5869+4180A>C (n.5869+4180A>C) | |
| 2 | g.21006553T= | CA2493474846 | APOB | c.10315A= (p.Asn3439=) c.5869+4180A= (n.5869+4180A=) | |
| 2 | g.21006554C>A | CA43496054 | APOB | c.10314G>T (p.Met3438Ile) c.5869+4179G>T (n.5869+4179G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006554C= | CA2493474847 | APOB | c.10314G= (p.Met3438=) c.5869+4179G= (n.5869+4179G=) | |
| 2 | g.21006554C>G | CA345986806 | APOB | c.10314G>C (p.Met3438Ile) c.5869+4179G>C (n.5869+4179G>C) | |
| 2 | g.21006554C>T | CA345986805 | APOB | c.10314G>A (p.Met3438Ile) c.5869+4179G>A (n.5869+4179G>A) | |
| 2 | g.21006554_21006563delinsCATTCTCAAA | CA2493474848 | APOB | c.10305_10314delinsTTTGAGAATG (p.Ile3435=) c.5869+4170_5869+4179delinsTTTGAGAATG (n.5869+4170_5869+4179delinsTTTGAGAATG) | |
| 2 | g.21006555A>C | CA345986807 | APOB | c.10313T>G (p.Met3438Arg) c.5869+4178T>G (n.5869+4178T>G) | |
| 2 | g.21006555A>G | CA345986808 | APOB | c.10313T>C (p.Met3438Thr) c.5869+4178T>C (n.5869+4178T>C) | |
| 2 | g.21006555A>T | CA345986809 | APOB | c.10313T>A (p.Met3438Lys) c.5869+4178T>A (n.5869+4178T>A) | |
| 2 | g.21006558_21006566del | CA916487986 | APOB | c.10305_10313del (p.Ile3435_Arg3437del) c.5869+4170_5869+4178del (n.5869+4170_5869+4178del) | dbSNP |
| 2 | g.21006556T>A | CA345986810 | APOB | c.10312A>T (p.Met3438Leu) c.5869+4177A>T (n.5869+4177A>T) | |
| 2 | g.21006556T>C | CA345986811 | APOB | c.10312A>G (p.Met3438Val) c.5869+4177A>G (n.5869+4177A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006556T>G | CA345986812 | APOB | c.10312A>C (p.Met3438Leu) c.5869+4177A>C (n.5869+4177A>C) | |
| 2 | g.21006556T= | CA2493474849 | APOB | c.10312A= (p.Met3438=) c.5869+4177A= (n.5869+4177A=) | |
| 2 | g.21006557del | CA2586968761 | APOB | c.10312del (p.Met3438Ter) c.5869+4177del (n.5869+4177del) | gnomAD v4 |
| 2 | g.21006557T>A | CA345986813 | APOB | c.10311A>T (p.Arg3437Ser) c.5869+4176A>T (n.5869+4176A>T) | |
| 2 | g.21006557T>C | CA425343332 | APOB | c.10311A>G (p.Arg3437=) c.5869+4176A>G (n.5869+4176A>G) | |
| 2 | g.21006557T>G | CA345986814 | APOB | c.10311A>C (p.Arg3437Ser) c.5869+4176A>C (n.5869+4176A>C) | |
| 2 | g.21006558C>A | CA345986815 | APOB | c.10310G>T (p.Arg3437Ile) c.5869+4175G>T (n.5869+4175G>T) | |
| 2 | g.21006558C= | CA2493474850 | APOB | c.10310G= (p.Arg3437=) c.5869+4175G= (n.5869+4175G=) | |
| 2 | g.21006558C>G | CA345986816 | APOB | c.10310G>C (p.Arg3437Thr) c.5869+4175G>C (n.5869+4175G>C) | |
| 2 | g.21006558C>T | CA345986817 | APOB | c.10310G>A (p.Arg3437Lys) c.5869+4175G>A (n.5869+4175G>A) | ClinVar dbSNP |
| 2 | g.21006559T>A | CA345986819 | APOB | c.10309A>T (p.Arg3437Ter) c.5869+4174A>T (n.5869+4174A>T) | |
| 2 | g.21006559T>C | CA345986820 | APOB | c.10309A>G (p.Arg3437Gly) c.5869+4174A>G (n.5869+4174A>G) | |
| 2 | g.21006559T>G | CA425343335 | APOB | c.10309A>C (p.Arg3437=) c.5869+4174A>C (n.5869+4174A>C) | |
| 2 | g.21006560C>A | CA345986821 | APOB | c.10308G>T (p.Leu3436Phe) c.5869+4173G>T (n.5869+4173G>T) | |
| 2 | g.21006560C>G | CA345986822 | APOB | c.10308G>C (p.Leu3436Phe) c.5869+4173G>C (n.5869+4173G>C) | gnomAD v4 |
| 2 | g.21006560C>T | CA425343339 | APOB | c.10308G>A (p.Leu3436=) c.5869+4173G>A (n.5869+4173G>A) | |
| 2 | g.21006561A>C | CA345986823 | APOB | c.10307T>G (p.Leu3436Trp) c.5869+4172T>G (n.5869+4172T>G) | |
| 2 | g.21006561A>G | CA345986825 | APOB | c.10307T>C (p.Leu3436Ser) c.5869+4172T>C (n.5869+4172T>C) | |
| 2 | g.21006561A>T | CA345986824 | APOB | c.10307T>A (p.Leu3436Ter) c.5869+4172T>A (n.5869+4172T>A) | gnomAD v4 |
| 2 | g.21006562A= | CA2493474851 | APOB | c.10306T= (p.Leu3436=) c.5869+4171T= (n.5869+4171T=) | |
| 2 | g.21006562A>C | CA345986826 | APOB | c.10306T>G (p.Leu3436Val) c.5869+4171T>G (n.5869+4171T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006562A>G | CA043158 | APOB | c.10306T>C (p.Leu3436=) c.5869+4171T>C (n.5869+4171T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006562A>T | CA345986827 | APOB | c.10306T>A (p.Leu3436Met) c.5869+4171T>A (n.5869+4171T>A) | |
| 2 | g.21006563A>C | CA345986828 | APOB | c.10305T>G (p.Ile3435Met) c.5869+4170T>G (n.5869+4170T>G) | |
| 2 | g.21006563A>G | CA425343344 | APOB | c.10305T>C (p.Ile3435=) c.5869+4170T>C (n.5869+4170T>C) | |
| 2 | g.21006563A>T | CA425343345 | APOB | c.10305T>A (p.Ile3435=) c.5869+4170T>A (n.5869+4170T>A) | |
| 2 | g.21006564A= | CA2493474852 | APOB | c.10304T= (p.Ile3435=) c.5869+4169T= (n.5869+4169T=) | |
| 2 | g.21006564A>C | CA345986829 | APOB | c.10304T>G (p.Ile3435Ser) c.5869+4169T>G (n.5869+4169T>G) | |
| 2 | g.21006564A>G | CA043140 | APOB | c.10304T>C (p.Ile3435Thr) c.5869+4169T>C (n.5869+4169T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006564A>T | CA345986830 | APOB | c.10304T>A (p.Ile3435Asn) c.5869+4169T>A (n.5869+4169T>A) | ClinVar |
| 2 | g.21006565T>A | CA345986831 | APOB | c.10303A>T (p.Ile3435Phe) c.5869+4168A>T (n.5869+4168A>T) | |
| 2 | g.21006565T>C | CA345986832 | APOB | c.10303A>G (p.Ile3435Val) c.5869+4168A>G (n.5869+4168A>G) | |
| 2 | g.21006565T>G | CA345986833 | APOB | c.10303A>C (p.Ile3435Leu) c.5869+4168A>C (n.5869+4168A>C) | |
| 2 | g.21006566T>A | CA425343349 | APOB | c.10302A>T (p.Pro3434=) c.5869+4167A>T (n.5869+4167A>T) | |
| 2 | g.21006566T>C | CA425343351 | APOB | c.10302A>G (p.Pro3434=) c.5869+4167A>G (n.5869+4167A>G) | |
| 2 | g.21006566T>G | CA425343350 | APOB | c.10302A>C (p.Pro3434=) c.5869+4167A>C (n.5869+4167A>C) | |
| 2 | g.21006567G>A | CA345986836 | APOB | c.10301C>T (p.Pro3434Leu) c.5869+4166C>T (n.5869+4166C>T) | gnomAD v4 |
| 2 | g.21006567G>C | CA345986835 | APOB | c.10301C>G (p.Pro3434Arg) c.5869+4166C>G (n.5869+4166C>G) | |
| 2 | g.21006567G= | CA2493474853 | APOB | c.10301C= (p.Pro3434=) c.5869+4166C= (n.5869+4166C=) | |
| 2 | g.21006567G>T | CA345986834 | APOB | c.10301C>A (p.Pro3434Gln) c.5869+4166C>A (n.5869+4166C>A) | |
| 2 | g.21006567_21006568insA | CA916487987 | APOB | c.10300_10301insT (p.Pro3434LeufsTer12) c.5869+4165_5869+4166insT (n.5869+4165_5869+4166insT) | dbSNP |
| 2 | g.21006568G>A | CA345986837 | APOB | c.10300C>T (p.Pro3434Ser) c.5869+4165C>T (n.5869+4165C>T) | |
| 2 | g.21006568G>C | CA345986838 | APOB | c.10300C>G (p.Pro3434Ala) c.5869+4165C>G (n.5869+4165C>G) | |
| 2 | g.21006568G>T | CA345986839 | APOB | c.10300C>A (p.Pro3434Thr) c.5869+4165C>A (n.5869+4165C>A) | |
| 2 | g.21006569A>C | CA345986840 | APOB | c.10299T>G (p.Ile3433Met) c.5869+4164T>G (n.5869+4164T>G) | |
| 2 | g.21006569A>G | CA425343354 | APOB | c.10299T>C (p.Ile3433=) c.5869+4164T>C (n.5869+4164T>C) | |
| 2 | g.21006569A>T | CA425343355 | APOB | c.10299T>A (p.Ile3433=) c.5869+4164T>A (n.5869+4164T>A) | |
| 2 | g.21006570A>C | CA345986841 | APOB | c.10298T>G (p.Ile3433Ser) c.5869+4163T>G (n.5869+4163T>G) | |
| 2 | g.21006570A>G | CA345986842 | APOB | c.10298T>C (p.Ile3433Thr) c.5869+4163T>C (n.5869+4163T>C) | |
| 2 | g.21006570A>T | CA345986843 | APOB | c.10298T>A (p.Ile3433Asn) c.5869+4163T>A (n.5869+4163T>A) | |
| 2 | g.21006571T>A | CA345986844 | APOB | c.10297A>T (p.Ile3433Phe) c.5869+4162A>T (n.5869+4162A>T) | |
| 2 | g.21006571T>C | CA345986845 | APOB | c.10297A>G (p.Ile3433Val) c.5869+4162A>G (n.5869+4162A>G) | |
| 2 | g.21006571T>G | CA345986846 | APOB | c.10297A>C (p.Ile3433Leu) c.5869+4162A>C (n.5869+4162A>C) | |
| 2 | g.21006572T>A | CA345986847 | APOB | c.10296A>T (p.Gln3432His) c.5869+4161A>T (n.5869+4161A>T) | dbSNP |
| 2 | g.21006572T>C | CA425343360 | APOB | c.10296A>G (p.Gln3432=) c.5869+4161A>G (n.5869+4161A>G) | |
| 2 | g.21006572T>G | CA345986848 | APOB | c.10296A>C (p.Gln3432His) c.5869+4161A>C (n.5869+4161A>C) | |
| 2 | g.21006572T= | CA2493474854 | APOB | c.10296A= (p.Gln3432=) c.5869+4161A= (n.5869+4161A=) | |
| 2 | g.21006573T>A | CA345986850 | APOB | c.10295A>T (p.Gln3432Leu) c.5869+4160A>T (n.5869+4160A>T) | |
| 2 | g.21006573T>C | CA043118 | APOB | c.10295A>G (p.Gln3432Arg) c.5869+4160A>G (n.5869+4160A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006573T>G | CA345986849 | APOB | c.10295A>C (p.Gln3432Pro) c.5869+4160A>C (n.5869+4160A>C) | gnomAD v4 |
| 2 | g.21006573T= | CA2493474855 | APOB | c.10295A= (p.Gln3432=) c.5869+4160A= (n.5869+4160A=) | |
| 2 | g.21006574G>A | CA345986851 | APOB | c.10294C>T (p.Gln3432Ter) c.5869+4159C>T (n.5869+4159C>T) | |
| 2 | g.21006574G>C | CA022744 | APOB | c.10294C>G (p.Gln3432Glu) c.5869+4159C>G (n.5869+4159C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006574G= | CA2493474856 | APOB | c.10294C= (p.Gln3432=) c.5869+4159C= (n.5869+4159C=) | |
| 2 | g.21006574G>T | CA345986852 | APOB | c.10294C>A (p.Gln3432Lys) c.5869+4159C>A (n.5869+4159C>A) | |
| 2 | g.21006575G>A | CA425343363 | APOB | c.10293C>T (p.Ala3431=) c.5869+4158C>T (n.5869+4158C>T) | ClinVar gnomAD v4 |
| 2 | g.21006575G>C | CA425343364 | APOB | c.10293C>G (p.Ala3431=) c.5869+4158C>G (n.5869+4158C>G) | gnomAD v4 |
| 2 | g.21006575G= | CA2493474857 | APOB | c.10293C= (p.Ala3431=) c.5869+4158C= (n.5869+4158C=) | |
| 2 | g.21006575G>T | CA425343365 | APOB | c.10293C>A (p.Ala3431=) c.5869+4158C>A (n.5869+4158C>A) | gnomAD v3 gnomAD v4 |
| 2 | g.21006576G>A | CA345986853 | APOB | c.10292C>T (p.Ala3431Val) c.5869+4157C>T (n.5869+4157C>T) | gnomAD v4 |
| 2 | g.21006576G>C | CA345986854 | APOB | c.10292C>G (p.Ala3431Gly) c.5869+4157C>G (n.5869+4157C>G) | |
| 2 | g.21006576G>T | CA345986855 | APOB | c.10292C>A (p.Ala3431Asp) c.5869+4157C>A (n.5869+4157C>A) | ClinVar dbSNP |
| 2 | g.21006576_21006577insAG | CA916487988 | APOB | c.10292_10293insTC (p.Gln3432ProfsTer6) c.5869+4157_5869+4158insTC (n.5869+4157_5869+4158insTC) | dbSNP |
| 2 | g.21006577C>A | CA345986858 | APOB | c.10291G>T (p.Ala3431Ser) c.5869+4156G>T (n.5869+4156G>T) | |
| 2 | g.21006577C>G | CA345986856 | APOB | c.10291G>C (p.Ala3431Pro) c.5869+4156G>C (n.5869+4156G>C) | gnomAD v4 |
| 2 | g.21006577C>T | CA345986857 | APOB | c.10291G>A (p.Ala3431Thr) c.5869+4156G>A (n.5869+4156G>A) | |
| 2 | g.21006578T>A | CA345986859 | APOB | c.10290A>T (p.Lys3430Asn) c.5869+4155A>T (n.5869+4155A>T) | dbSNP |
| 2 | g.21006578T>C | CA425343368 | APOB | c.10290A>G (p.Lys3430=) c.5869+4155A>G (n.5869+4155A>G) | |
| 2 | g.21006578T>G | CA345986860 | APOB | c.10290A>C (p.Lys3430Asn) c.5869+4155A>C (n.5869+4155A>C) | |
| 2 | g.21006578T= | CA2493474858 | APOB | c.10290A= (p.Lys3430=) c.5869+4155A= (n.5869+4155A=) | |
| 2 | g.21006579T>A | CA345986861 | APOB | c.10289A>T (p.Lys3430Ile) c.5869+4154A>T (n.5869+4154A>T) | |
| 2 | g.21006579T>C | CA345986862 | APOB | c.10289A>G (p.Lys3430Arg) c.5869+4154A>G (n.5869+4154A>G) | |
| 2 | g.21006579T>G | CA043058 | APOB | c.10289A>C (p.Lys3430Thr) c.5869+4154A>C (n.5869+4154A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006579T= | CA2493474859 | APOB | c.10289A= (p.Lys3430=) c.5869+4154A= (n.5869+4154A=) | |
| 2 | g.21006579_21006580insGGAGG | CA916487990 | APOB | c.10288_10289insCCTCC (p.Lys3430ThrfsTer9) c.5869+4153_5869+4154insCCTCC (n.5869+4153_5869+4154insCCTCC) | dbSNP |
| 2 | g.21006580T>A | CA345986863 | APOB | c.10288A>T (p.Lys3430Ter) c.5869+4153A>T (n.5869+4153A>T) | |
| 2 | g.21006580T>C | CA043029 | APOB | c.10288A>G (p.Lys3430Glu) c.5869+4153A>G (n.5869+4153A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006580T>G | CA345986864 | APOB | c.10288A>C (p.Lys3430Gln) c.5869+4153A>C (n.5869+4153A>C) | |
| 2 | g.21006580T= | CA2493474860 | APOB | c.10288A= (p.Lys3430=) c.5869+4153A= (n.5869+4153A=) | |
| 2 | g.21006581T>A | CA425343374 | APOB | c.10287A>T (p.Thr3429=) c.5869+4152A>T (n.5869+4152A>T) | |
| 2 | g.21006581T>C | CA425343371 | APOB | c.10287A>G (p.Thr3429=) c.5869+4152A>G (n.5869+4152A>G) | |
| 2 | g.21006581T>G | CA425343372 | APOB | c.10287A>C (p.Thr3429=) c.5869+4152A>C (n.5869+4152A>C) | |
| 2 | g.21006582G>A | CA345986865 | APOB | c.10286C>T (p.Thr3429Ile) c.5869+4151C>T (n.5869+4151C>T) | |
| 2 | g.21006582G>C | CA345986866 | APOB | c.10286C>G (p.Thr3429Arg) c.5869+4151C>G (n.5869+4151C>G) | |
| 2 | g.21006582G>T | CA345986867 | APOB | c.10286C>A (p.Thr3429Lys) c.5869+4151C>A (n.5869+4151C>A) | |
| 2 | g.21006582_21006583delinsGT | CA2493474861 | APOB | c.10285_10286delinsAC (p.Thr3429=) c.5869+4150_5869+4151delinsAC (n.5869+4150_5869+4151delinsAC) |