Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21010202T>A | CA346001107 | APOB | c.6666A>T (p.Leu2222Phe) c.5869+531A>T (n.5869+531A>T) | |
2 | g.21010202T>C | CA425345672 | APOB | c.6666A>G (p.Leu2222=) c.5869+531A>G (n.5869+531A>G) | gnomAD v4 |
2 | g.21010202T>G | CA346001109 | APOB | c.6666A>C (p.Leu2222Phe) c.5869+531A>C (n.5869+531A>C) | |
2 | g.21010203A>C | CA346001111 | APOB | c.6665T>G (p.Leu2222Ter) c.5869+530T>G (n.5869+530T>G) | COSMIC |
2 | g.21010203A>G | CA346001113 | APOB | c.6665T>C (p.Leu2222Ser) c.5869+530T>C (n.5869+530T>C) | |
2 | g.21010203A>T | CA346001115 | APOB | c.6665T>A (p.Leu2222Ter) c.5869+530T>A (n.5869+530T>A) | |
2 | g.21010205del | CA2586968874 | APOB | c.6665del (p.Leu2222Ter) c.5869+530del (n.5869+530del) | |
2 | g.21010204A>C | CA346001117 | APOB | c.6664T>G (p.Leu2222Val) c.5869+529T>G (n.5869+529T>G) | |
2 | g.21010204A>G | CA425345674 | APOB | c.6664T>C (p.Leu2222=) c.5869+529T>C (n.5869+529T>C) | |
2 | g.21010204A>T | CA346001118 | APOB | c.6664T>A (p.Leu2222Ile) c.5869+529T>A (n.5869+529T>A) | |
2 | g.21010205A>C | CA346001121 | APOB | c.6663T>G (p.Asn2221Lys) c.5869+528T>G (n.5869+528T>G) | |
2 | g.21010205A>G | CA425345675 | APOB | c.6663T>C (p.Asn2221=) c.5869+528T>C (n.5869+528T>C) | |
2 | g.21010205A>T | CA346001122 | APOB | c.6663T>A (p.Asn2221Lys) c.5869+528T>A (n.5869+528T>A) | |
2 | g.21010206T>A | CA346001127 | APOB | c.6662A>T (p.Asn2221Ile) c.5869+527A>T (n.5869+527A>T) | |
2 | g.21010206T>C | CA346001125 | APOB | c.6662A>G (p.Asn2221Ser) c.5869+527A>G (n.5869+527A>G) | |
2 | g.21010206T>G | CA346001124 | APOB | c.6662A>C (p.Asn2221Thr) c.5869+527A>C (n.5869+527A>C) | |
2 | g.21010207T>A | CA346001133 | APOB | c.6661A>T (p.Asn2221Tyr) c.5869+526A>T (n.5869+526A>T) | |
2 | g.21010207T>C | CA346001130 | APOB | c.6661A>G (p.Asn2221Asp) c.5869+526A>G (n.5869+526A>G) | |
2 | g.21010207T>G | CA346001131 | APOB | c.6661A>C (p.Asn2221His) c.5869+526A>C (n.5869+526A>C) | COSMIC |
2 | g.21010208T>A | CA425345677 | APOB | c.6660A>T (p.Val2220=) c.5869+525A>T (n.5869+525A>T) | |
2 | g.21010208T>C | CA425345678 | APOB | c.6660A>G (p.Val2220=) c.5869+525A>G (n.5869+525A>G) | COSMIC |
2 | g.21010208T>G | CA425345679 | APOB | c.6660A>C (p.Val2220=) c.5869+525A>C (n.5869+525A>C) | |
2 | g.21010209A= | CA2493476587 | APOB | c.6659T= (p.Val2220=) c.5869+524T= (n.5869+524T=) | |
2 | g.21010209A>C | CA346001136 | APOB | c.6659T>G (p.Val2220Gly) c.5869+524T>G (n.5869+524T>G) | |
2 | g.21010209A>G | CA063428 | APOB | c.6659T>C (p.Val2220Ala) c.5869+524T>C (n.5869+524T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010209A>T | CA346001138 | APOB | c.6659T>A (p.Val2220Glu) c.5869+524T>A (n.5869+524T>A) | |
2 | g.21010210C>A | CA346001140 | APOB | c.6658G>T (p.Val2220Leu) c.5869+523G>T (n.5869+523G>T) | dbSNP gnomAD v4 |
2 | g.21010210C= | CA2493476588 | APOB | c.6658G= (p.Val2220=) c.5869+523G= (n.5869+523G=) | |
2 | g.21010210C>G | CA346001142 | APOB | c.6658G>C (p.Val2220Leu) c.5869+523G>C (n.5869+523G>C) | |
2 | g.21010210C>T | CA43505034 | APOB | c.6658G>A (p.Val2220Ile) c.5869+523G>A (n.5869+523G>A) | dbSNP gnomAD v4 |
2 | g.21010211A>C | CA425345680 | APOB | c.6657T>G (p.Arg2219=) c.5869+522T>G (n.5869+522T>G) | |
2 | g.21010211A>G | CA425345683 | APOB | c.6657T>C (p.Arg2219=) c.5869+522T>C (n.5869+522T>C) | |
2 | g.21010211A>T | CA425345681 | APOB | c.6657T>A (p.Arg2219=) c.5869+522T>A (n.5869+522T>A) | |
2 | g.21010212C>A | CA346001145 | APOB | c.6656G>T (p.Arg2219Leu) c.5869+521G>T (n.5869+521G>T) | gnomAD v4 |
2 | g.21010212C= | CA2493476589 | APOB | c.6656G= (p.Arg2219=) c.5869+521G= (n.5869+521G=) | |
2 | g.21010212C>G | CA346001147 | APOB | c.6656G>C (p.Arg2219Pro) c.5869+521G>C (n.5869+521G>C) | gnomAD v4 |
2 | g.21010212C>T | CA063423 | APOB | c.6656G>A (p.Arg2219His) c.5869+521G>A (n.5869+521G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21010213G>A | CA063418 | APOB | c.6655C>T (p.Arg2219Cys) c.5869+520C>T (n.5869+520C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21010213G>C | CA346001152 | APOB | c.6655C>G (p.Arg2219Gly) c.5869+520C>G (n.5869+520C>G) | |
2 | g.21010213G= | CA2493476590 | APOB | c.6655C= (p.Arg2219=) c.5869+520C= (n.5869+520C=) | |
2 | g.21010213G>T | CA346001154 | APOB | c.6655C>A (p.Arg2219Ser) c.5869+520C>A (n.5869+520C>A) | gnomAD v4 |
2 | g.21010214G>A | CA425345684 | APOB | c.6654C>T (p.Ile2218=) c.5869+519C>T (n.5869+519C>T) | gnomAD v4 COSMIC |
2 | g.21010214G>C | CA346001157 | APOB | c.6654C>G (p.Ile2218Met) c.5869+519C>G (n.5869+519C>G) | |
2 | g.21010214G= | CA2493476591 | APOB | c.6654C= (p.Ile2218=) c.5869+519C= (n.5869+519C=) | |
2 | g.21010214G>T | CA063413 | APOB | c.6654C>A (p.Ile2218=) c.5869+519C>A (n.5869+519C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010215A>C | CA346001159 | APOB | c.6653T>G (p.Ile2218Ser) c.5869+518T>G (n.5869+518T>G) | |
2 | g.21010215A>G | CA346001161 | APOB | c.6653T>C (p.Ile2218Thr) c.5869+518T>C (n.5869+518T>C) | |
2 | g.21010215A>T | CA346001163 | APOB | c.6653T>A (p.Ile2218Asn) c.5869+518T>A (n.5869+518T>A) | |
2 | g.21010216T>A | CA346001165 | APOB | c.6652A>T (p.Ile2218Phe) c.5869+517A>T (n.5869+517A>T) | |
2 | g.21010216T>C | CA346001166 | APOB | c.6652A>G (p.Ile2218Val) c.5869+517A>G (n.5869+517A>G) | |
2 | g.21010216T>G | CA346001168 | APOB | c.6652A>C (p.Ile2218Leu) c.5869+517A>C (n.5869+517A>C) | |
2 | g.21010217A>C | CA346001172 | APOB | c.6651T>G (p.His2217Gln) c.5869+516T>G (n.5869+516T>G) | |
2 | g.21010217A>G | CA425345686 | APOB | c.6651T>C (p.His2217=) c.5869+516T>C (n.5869+516T>C) | |
2 | g.21010217A>T | CA346001170 | APOB | c.6651T>A (p.His2217Gln) c.5869+516T>A (n.5869+516T>A) | |
2 | g.21010218T>A | CA346001174 | APOB | c.6650A>T (p.His2217Leu) c.5869+515A>T (n.5869+515A>T) | |
2 | g.21010218T>C | CA346001176 | APOB | c.6650A>G (p.His2217Arg) c.5869+515A>G (n.5869+515A>G) | |
2 | g.21010218T>G | CA346001178 | APOB | c.6650A>C (p.His2217Pro) c.5869+515A>C (n.5869+515A>C) | |
2 | g.21010219G>A | CA346001181 | APOB | c.6649C>T (p.His2217Tyr) c.5869+514C>T (n.5869+514C>T) | |
2 | g.21010219G>C | CA346001182 | APOB | c.6649C>G (p.His2217Asp) c.5869+514C>G (n.5869+514C>G) | |
2 | g.21010219G>T | CA346001184 | APOB | c.6649C>A (p.His2217Asn) c.5869+514C>A (n.5869+514C>A) | gnomAD v4 |
2 | g.21010220A= | CA2493476592 | APOB | c.6648T= (p.Tyr2216=) c.5869+513T= (n.5869+513T=) | |
2 | g.21010220A>C | CA346001186 | APOB | c.6648T>G (p.Tyr2216Ter) c.5869+513T>G (n.5869+513T>G) | |
2 | g.21010220A>G | CA063407 | APOB | c.6648T>C (p.Tyr2216=) c.5869+513T>C (n.5869+513T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010220A>T | CA346001188 | APOB | c.6648T>A (p.Tyr2216Ter) c.5869+513T>A (n.5869+513T>A) | |
2 | g.21010221T>A | CA346001190 | APOB | c.6647A>T (p.Tyr2216Phe) c.5869+512A>T (n.5869+512A>T) | |
2 | g.21010221T>C | CA346001191 | APOB | c.6647A>G (p.Tyr2216Cys) c.5869+512A>G (n.5869+512A>G) | |
2 | g.21010221T>G | CA346001193 | APOB | c.6647A>C (p.Tyr2216Ser) c.5869+512A>C (n.5869+512A>C) | gnomAD v4 |
2 | g.21010222A= | CA2493476593 | APOB | c.6646T= (p.Tyr2216=) c.5869+511T= (n.5869+511T=) | |
2 | g.21010222A>C | CA346001195 | APOB | c.6646T>G (p.Tyr2216Asp) c.5869+511T>G (n.5869+511T>G) | |
2 | g.21010222A>G | CA063403 | APOB | c.6646T>C (p.Tyr2216His) c.5869+511T>C (n.5869+511T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21010222A>T | CA346001198 | APOB | c.6646T>A (p.Tyr2216Asn) c.5869+511T>A (n.5869+511T>A) | |
2 | g.21010223G>A | CA063396 | APOB | c.6645C>T (p.His2215=) c.5869+510C>T (n.5869+510C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010223G>C | CA43505050 | APOB | c.6645C>G (p.His2215Gln) c.5869+510C>G (n.5869+510C>G) | dbSNP |
2 | g.21010223G= | CA2493476594 | APOB | c.6645C= (p.His2215=) c.5869+510C= (n.5869+510C=) | |
2 | g.21010223G>T | CA346001202 | APOB | c.6645C>A (p.His2215Gln) c.5869+510C>A (n.5869+510C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010224T>A | CA346001205 | APOB | c.6644A>T (p.His2215Leu) c.5869+509A>T (n.5869+509A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010224T>C | CA346001207 | APOB | c.6644A>G (p.His2215Arg) c.5869+509A>G (n.5869+509A>G) | dbSNP |
2 | g.21010224T>G | CA346001209 | APOB | c.6644A>C (p.His2215Pro) c.5869+509A>C (n.5869+509A>C) | |
2 | g.21010224T= | CA2493476595 | APOB | c.6644A= (p.His2215=) c.5869+509A= (n.5869+509A=) | |
2 | g.21010225G>A | CA346001214 | APOB | c.6643C>T (p.His2215Tyr) c.5869+508C>T (n.5869+508C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010225G>C | CA346001211 | APOB | c.6643C>G (p.His2215Asp) c.5869+508C>G (n.5869+508C>G) | |
2 | g.21010225G= | CA2493476596 | APOB | c.6643C= (p.His2215=) c.5869+508C= (n.5869+508C=) | |
2 | g.21010225G>T | CA346001212 | APOB | c.6643C>A (p.His2215Asn) c.5869+508C>A (n.5869+508C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.21010226C>A | CA346001216 | APOB | c.6642G>T (p.Glu2214Asp) c.5869+507G>T (n.5869+507G>T) | gnomAD v4 |
2 | g.21010226C= | CA2493476598 | APOB | c.6642G= (p.Glu2214=) c.5869+507G= (n.5869+507G=) | |
2 | g.21010226C>G | CA346001218 | APOB | c.6642G>C (p.Glu2214Asp) c.5869+507G>C (n.5869+507G>C) | |
2 | g.21010226C>T | CA425345689 | APOB | c.6642G>A (p.Glu2214=) c.5869+507G>A (n.5869+507G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010227_21010228dup | CA916488003 | APOB | c.6641_6642dup (p.His2215SerfsTer7) c.5869+506_5869+507dup (n.5869+506_5869+507dup) | dbSNP |
2 | g.21010226_21010229delinsCTCA | CA2493476597 | APOB | c.6639_6642delinsTGAG (p.Asp2213=) c.5869+504_5869+507delinsTGAG (n.5869+504_5869+507delinsTGAG) | |
2 | g.21010227T>A | CA346001223 | APOB | c.6641A>T (p.Glu2214Val) c.5869+506A>T (n.5869+506A>T) | |
2 | g.21010227T>C | CA346001225 | APOB | c.6641A>G (p.Glu2214Gly) c.5869+506A>G (n.5869+506A>G) | gnomAD v4 |
2 | g.21010227T>G | CA346001227 | APOB | c.6641A>C (p.Glu2214Ala) c.5869+506A>C (n.5869+506A>C) | |
2 | g.21010230_21010232del | CA022887 | APOB | c.6639_6641del (p.Asp2213del) c.5869+504_5869+506del (n.5869+504_5869+506del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010228C>A | CA346001232 | APOB | c.6640G>T (p.Glu2214Ter) c.5869+505G>T (n.5869+505G>T) | |
2 | g.21010228C= | CA2493476600 | APOB | c.6640G= (p.Glu2214=) c.5869+505G= (n.5869+505G=) | |
2 | g.21010228C>G | CA346001234 | APOB | c.6640G>C (p.Glu2214Gln) c.5869+505G>C (n.5869+505G>C) | |
2 | g.21010228C>T | CA346001236 | APOB | c.6640G>A (p.Glu2214Lys) c.5869+505G>A (n.5869+505G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010228_21010229delinsCA | CA2493476599 | APOB | c.6639_6640delinsTG (p.Asp2213=) c.5869+504_5869+505delinsTG (n.5869+504_5869+505delinsTG) | |
2 | g.21010229del | CA916488004 | APOB | c.6639del (p.Asp2213GlufsTer8) c.5869+504del (n.5869+504del) | dbSNP |
2 | g.21010229A= | CA2493476601 | APOB | c.6639T= (p.Asp2213=) c.5869+504T= (n.5869+504T=) | |
2 | g.21010229A>C | CA346001238 | APOB | c.6639T>G (p.Asp2213Glu) c.5869+504T>G (n.5869+504T>G) | |
2 | g.21010229A>G | CA425345691 | APOB | c.6639T>C (p.Asp2213=) c.5869+504T>C (n.5869+504T>C) | ClinVar gnomAD v4 |
2 | g.21010229A>T | CA346001240 | APOB | c.6639T>A (p.Asp2213Glu) c.5869+504T>A (n.5869+504T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010230T>A | CA346001244 | APOB | c.6638A>T (p.Asp2213Val) c.5869+503A>T (n.5869+503A>T) | |
2 | g.21010230T>C | CA346001246 | APOB | c.6638A>G (p.Asp2213Gly) c.5869+503A>G (n.5869+503A>G) | gnomAD v4 |
2 | g.21010230T>G | CA346001242 | APOB | c.6638A>C (p.Asp2213Ala) c.5869+503A>C (n.5869+503A>C) | |
2 | g.21010231C>A | CA346001248 | APOB | c.6637G>T (p.Asp2213Tyr) c.5869+502G>T (n.5869+502G>T) | |
2 | g.21010231C= | CA2493476602 | APOB | c.6637G= (p.Asp2213=) c.5869+502G= (n.5869+502G=) | |
2 | g.21010231C>G | CA346001253 | APOB | c.6637G>C (p.Asp2213His) c.5869+502G>C (n.5869+502G>C) | |
2 | g.21010231C>T | CA346001250 | APOB | c.6637G>A (p.Asp2213Asn) c.5869+502G>A (n.5869+502G>A) | dbSNP gnomAD v4 |
2 | g.21010232A>C | CA425345695 | APOB | c.6636T>G (p.Leu2212=) c.5869+501T>G (n.5869+501T>G) | |
2 | g.21010232A>G | CA425345696 | APOB | c.6636T>C (p.Leu2212=) c.5869+501T>C (n.5869+501T>C) | gnomAD v4 |
2 | g.21010232A>T | CA425345697 | APOB | c.6636T>A (p.Leu2212=) c.5869+501T>A (n.5869+501T>A) | |
2 | g.21010233A>C | CA346001255 | APOB | c.6635T>G (p.Leu2212Arg) c.5869+500T>G (n.5869+500T>G) | |
2 | g.21010233A>G | CA346001257 | APOB | c.6635T>C (p.Leu2212Pro) c.5869+500T>C (n.5869+500T>C) | |
2 | g.21010233A>T | CA346001259 | APOB | c.6635T>A (p.Leu2212His) c.5869+500T>A (n.5869+500T>A) | |
2 | g.21010234del | CA2586968875 | APOB | c.6634del (p.Asp2213MetfsTer8) c.5869+499del (n.5869+499del) | |
2 | g.21010234G>A | CA346001261 | APOB | c.6634C>T (p.Leu2212Phe) c.5869+499C>T (n.5869+499C>T) | |
2 | g.21010234G>C | CA346001263 | APOB | c.6634C>G (p.Leu2212Val) c.5869+499C>G (n.5869+499C>G) | |
2 | g.21010234G>T | CA346001264 | APOB | c.6634C>A (p.Leu2212Ile) c.5869+499C>A (n.5869+499C>A) | |
2 | g.21010235A= | CA2493476603 | APOB | c.6633T= (p.Ser2211=) c.5869+498T= (n.5869+498T=) | |
2 | g.21010235A>C | CA346001267 | APOB | c.6633T>G (p.Ser2211Arg) c.5869+498T>G (n.5869+498T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010235A>G | CA425345699 | APOB | c.6633T>C (p.Ser2211=) c.5869+498T>C (n.5869+498T>C) | |
2 | g.21010235A>T | CA346001269 | APOB | c.6633T>A (p.Ser2211Arg) c.5869+498T>A (n.5869+498T>A) | |
2 | g.21010236C>A | CA346001271 | APOB | c.6632G>T (p.Ser2211Ile) c.5869+497G>T (n.5869+497G>T) | dbSNP gnomAD v4 |
2 | g.21010236C= | CA2493476605 | APOB | c.6632G= (p.Ser2211=) c.5869+497G= (n.5869+497G=) | |
2 | g.21010236C>G | CA346001274 | APOB | c.6632G>C (p.Ser2211Thr) c.5869+497G>C (n.5869+497G>C) | |
2 | g.21010236C>T | CA346001273 | APOB | c.6632G>A (p.Ser2211Asn) c.5869+497G>A (n.5869+497G>A) | gnomAD v4 |
2 | g.21010236_21010238delinsCTT | CA2493476604 | APOB | c.6630_6632delinsAAG (p.Lys2210=) c.5869+495_5869+497delinsAAG (n.5869+495_5869+497delinsAAG) | |
2 | g.21010237T>A | CA346001275 | APOB | c.6631A>T (p.Ser2211Cys) c.5869+496A>T (n.5869+496A>T) | |
2 | g.21010237T>C | CA346001277 | APOB | c.6631A>G (p.Ser2211Gly) c.5869+496A>G (n.5869+496A>G) | |
2 | g.21010237T>G | CA346001279 | APOB | c.6631A>C (p.Ser2211Arg) c.5869+496A>C (n.5869+496A>C) | |
2 | g.21010240_21010241del | CA531312747 | APOB | c.6630_6631del (p.Leu2212Ter) c.5869+495_5869+496del (n.5869+495_5869+496del) | ClinVar dbSNP gnomAD v2 |
2 | g.21010238T>A | CA346001281 | APOB | c.6630A>T (p.Lys2210Asn) c.5869+495A>T (n.5869+495A>T) | |
2 | g.21010238T>C | CA425345700 | APOB | c.6630A>G (p.Lys2210=) c.5869+495A>G (n.5869+495A>G) | |
2 | g.21010238T>G | CA346001283 | APOB | c.6630A>C (p.Lys2210Asn) c.5869+495A>C (n.5869+495A>C) | |
2 | g.21010239T>A | CA346001285 | APOB | c.6629A>T (p.Lys2210Ile) c.5869+494A>T (n.5869+494A>T) | |
2 | g.21010239T>C | CA346001291 | APOB | c.6629A>G (p.Lys2210Arg) c.5869+494A>G (n.5869+494A>G) | |
2 | g.21010239T>G | CA346001290 | APOB | c.6629A>C (p.Lys2210Thr) c.5869+494A>C (n.5869+494A>C) | |
2 | g.21010240T>A | CA346001292 | APOB | c.6628A>T (p.Lys2210Ter) c.5869+493A>T (n.5869+493A>T) | |
2 | g.21010240T>C | CA346001294 | APOB | c.6628A>G (p.Lys2210Glu) c.5869+493A>G (n.5869+493A>G) | |
2 | g.21010240T>G | CA346001296 | APOB | c.6628A>C (p.Lys2210Gln) c.5869+493A>C (n.5869+493A>C) | |
2 | g.21010241T>A | CA346001298 | APOB | c.6627A>T (p.Leu2209Phe) c.5869+492A>T (n.5869+492A>T) | gnomAD v4 |
2 | g.21010241T>C | CA425345704 | APOB | c.6627A>G (p.Leu2209=) c.5869+492A>G (n.5869+492A>G) | |
2 | g.21010241T>G | CA346001300 | APOB | c.6627A>C (p.Leu2209Phe) c.5869+492A>C (n.5869+492A>C) | |
2 | g.21010242A>C | CA346001302 | APOB | c.6626T>G (p.Leu2209Ter) c.5869+491T>G (n.5869+491T>G) | gnomAD v4 |
2 | g.21010242A>G | CA346001304 | APOB | c.6626T>C (p.Leu2209Ser) c.5869+491T>C (n.5869+491T>C) | ClinVar |
2 | g.21010242A>T | CA346001306 | APOB | c.6626T>A (p.Leu2209Ter) c.5869+491T>A (n.5869+491T>A) | |
2 | g.21010243A>C | CA346001309 | APOB | c.6625T>G (p.Leu2209Val) c.5869+490T>G (n.5869+490T>G) | |
2 | g.21010243A>G | CA425345706 | APOB | c.6625T>C (p.Leu2209=) c.5869+490T>C (n.5869+490T>C) | |
2 | g.21010243A>T | CA346001311 | APOB | c.6625T>A (p.Leu2209Ile) c.5869+490T>A (n.5869+490T>A) | |
2 | g.21010244T>A | CA346001313 | APOB | c.6624A>T (p.Lys2208Asn) c.5869+489A>T (n.5869+489A>T) | |
2 | g.21010244T>C | CA425345707 | APOB | c.6624A>G (p.Lys2208=) c.5869+489A>G (n.5869+489A>G) | dbSNP |
2 | g.21010244T>G | CA346001315 | APOB | c.6624A>C (p.Lys2208Asn) c.5869+489A>C (n.5869+489A>C) | |
2 | g.21010244T= | CA2493476606 | APOB | c.6624A= (p.Lys2208=) c.5869+489A= (n.5869+489A=) | |
2 | g.21010248dup | CA2698844484 | APOB | c.6624dup (p.Leu2209IlefsTer5) c.5869+489dup (n.5869+489dup) | dbSNP |
2 | g.21010245T>A | CA346001316 | APOB | c.6623A>T (p.Lys2208Ile) c.5869+488A>T (n.5869+488A>T) | |
2 | g.21010245T>C | CA346001320 | APOB | c.6623A>G (p.Lys2208Arg) c.5869+488A>G (n.5869+488A>G) | |
2 | g.21010245T>G | CA346001318 | APOB | c.6623A>C (p.Lys2208Thr) c.5869+488A>C (n.5869+488A>C) | gnomAD v4 |
2 | g.21010246T>A | CA346001322 | APOB | c.6622A>T (p.Lys2208Ter) c.5869+487A>T (n.5869+487A>T) | |
2 | g.21010246T>C | CA346001324 | APOB | c.6622A>G (p.Lys2208Glu) c.5869+487A>G (n.5869+487A>G) | |
2 | g.21010246T>G | CA346001326 | APOB | c.6622A>C (p.Lys2208Gln) c.5869+487A>C (n.5869+487A>C) | |
2 | g.21010247T>A | CA346001328 | APOB | c.6621A>T (p.Glu2207Asp) c.5869+486A>T (n.5869+486A>T) | |
2 | g.21010247T>C | CA425345709 | APOB | c.6621A>G (p.Glu2207=) c.5869+486A>G (n.5869+486A>G) | |
2 | g.21010247T>G | CA346001330 | APOB | c.6621A>C (p.Glu2207Asp) c.5869+486A>C (n.5869+486A>C) | |
2 | g.21010248T>A | CA346001332 | APOB | c.6620A>T (p.Glu2207Val) c.5869+485A>T (n.5869+485A>T) | |
2 | g.21010248T>C | CA346001334 | APOB | c.6620A>G (p.Glu2207Gly) c.5869+485A>G (n.5869+485A>G) | |
2 | g.21010248T>G | CA346001336 | APOB | c.6620A>C (p.Glu2207Ala) c.5869+485A>C (n.5869+485A>C) | |
2 | g.21010249C>A | CA346001338 | APOB | c.6619G>T (p.Glu2207Ter) c.5869+484G>T (n.5869+484G>T) | gnomAD v4 |
2 | g.21010249C>G | CA346001340 | APOB | c.6619G>C (p.Glu2207Gln) c.5869+484G>C (n.5869+484G>C) | |
2 | g.21010249C>T | CA346001342 | APOB | c.6619G>A (p.Glu2207Lys) c.5869+484G>A (n.5869+484G>A) | |
2 | g.21010250A= | CA2493476607 | APOB | c.6618T= (p.Ile2206=) c.5869+483T= (n.5869+483T=) | |
2 | g.21010250A>C | CA346001343 | APOB | c.6618T>G (p.Ile2206Met) c.5869+483T>G (n.5869+483T>G) | |
2 | g.21010250A>G | CA425345713 | APOB | c.6618T>C (p.Ile2206=) c.5869+483T>C (n.5869+483T>C) | dbSNP gnomAD v4 COSMIC |
2 | g.21010250A>T | CA425345714 | APOB | c.6618T>A (p.Ile2206=) c.5869+483T>A (n.5869+483T>A) | |
2 | g.21010251A= | CA2493476608 | APOB | c.6617T= (p.Ile2206=) c.5869+482T= (n.5869+482T=) | |
2 | g.21010251A>C | CA346001347 | APOB | c.6617T>G (p.Ile2206Ser) c.5869+482T>G (n.5869+482T>G) | |
2 | g.21010251A>G | CA346001345 | APOB | c.6617T>C (p.Ile2206Thr) c.5869+482T>C (n.5869+482T>C) | dbSNP gnomAD v4 |
2 | g.21010251A>T | CA346001344 | APOB | c.6617T>A (p.Ile2206Asn) c.5869+482T>A (n.5869+482T>A) | |
2 | g.21010252T>A | CA346001348 | APOB | c.6616A>T (p.Ile2206Phe) c.5869+481A>T (n.5869+481A>T) | |
2 | g.21010252T>C | CA346001350 | APOB | c.6616A>G (p.Ile2206Val) c.5869+481A>G (n.5869+481A>G) | gnomAD v4 |
2 | g.21010252T>G | CA346001353 | APOB | c.6616A>C (p.Ile2206Leu) c.5869+481A>C (n.5869+481A>C) | |
2 | g.21010253G>A | CA425345716 | APOB | c.6615C>T (p.Ile2205=) c.5869+480C>T (n.5869+480C>T) | gnomAD v4 |
2 | g.21010253G>C | CA346001354 | APOB | c.6615C>G (p.Ile2205Met) c.5869+480C>G (n.5869+480C>G) | |
2 | g.21010253G= | CA2493476609 | APOB | c.6615C= (p.Ile2205=) c.5869+480C= (n.5869+480C=) | |
2 | g.21010253G>T | CA425345718 | APOB | c.6615C>A (p.Ile2205=) c.5869+480C>A (n.5869+480C>A) | dbSNP gnomAD v4 |
2 | g.21010254A>C | CA346001355 | APOB | c.6614T>G (p.Ile2205Ser) c.5869+479T>G (n.5869+479T>G) | |
2 | g.21010254A>G | CA346001356 | APOB | c.6614T>C (p.Ile2205Thr) c.5869+479T>C (n.5869+479T>C) | gnomAD v4 |
2 | g.21010254A>T | CA346001357 | APOB | c.6614T>A (p.Ile2205Asn) c.5869+479T>A (n.5869+479T>A) | |
2 | g.21010255T>A | CA346001358 | APOB | c.6613A>T (p.Ile2205Phe) c.5869+478A>T (n.5869+478A>T) | |
2 | g.21010255T>C | CA346001359 | APOB | c.6613A>G (p.Ile2205Val) c.5869+478A>G (n.5869+478A>G) | |
2 | g.21010255T>G | CA346001360 | APOB | c.6613A>C (p.Ile2205Leu) c.5869+478A>C (n.5869+478A>C) | gnomAD v4 |
2 | g.21010256T>A | CA346001361 | APOB | c.6612A>T (p.Glu2204Asp) c.5869+477A>T (n.5869+477A>T) | |
2 | g.21010256T>C | CA425345719 | APOB | c.6612A>G (p.Glu2204=) c.5869+477A>G (n.5869+477A>G) | |
2 | g.21010256T>G | CA346001362 | APOB | c.6612A>C (p.Glu2204Asp) c.5869+477A>C (n.5869+477A>C) | |
2 | g.21010256_21010259delinsTTCA | CA2493476610 | APOB | c.6609_6612delinsTGAA (p.Asp2203=) c.5869+474_5869+477delinsTGAA (n.5869+474_5869+477delinsTGAA) | |
2 | g.21010257T>A | CA346001363 | APOB | c.6611A>T (p.Glu2204Val) c.5869+476A>T (n.5869+476A>T) | |
2 | g.21010257T>C | CA346001365 | APOB | c.6611A>G (p.Glu2204Gly) c.5869+476A>G (n.5869+476A>G) | dbSNP gnomAD v4 |
2 | g.21010257T>G | CA346001364 | APOB | c.6611A>C (p.Glu2204Ala) c.5869+476A>C (n.5869+476A>C) | |
2 | g.21010257T= | CA2493476611 | APOB | c.6611A= (p.Glu2204=) c.5869+476A= (n.5869+476A=) | |
2 | g.21010260_21010262del | CA16610674 | APOB | c.6609_6611del (p.Asp2203del) c.5869+474_5869+476del (n.5869+474_5869+476del) | ClinVar dbSNP |
2 | g.21010258C>A | CA346001366 | APOB | c.6610G>T (p.Glu2204Ter) c.5869+475G>T (n.5869+475G>T) | |
2 | g.21010258C= | CA2493476612 | APOB | c.6610G= (p.Glu2204=) c.5869+475G= (n.5869+475G=) | |
2 | g.21010258C>G | CA346001368 | APOB | c.6610G>C (p.Glu2204Gln) c.5869+475G>C (n.5869+475G>C) | dbSNP |
2 | g.21010258C>T | CA346001367 | APOB | c.6610G>A (p.Glu2204Lys) c.5869+475G>A (n.5869+475G>A) | gnomAD v4 |
2 | g.21010259A= | CA2493476613 | APOB | c.6609T= (p.Asp2203=) c.5869+474T= (n.5869+474T=) | |
2 | g.21010259A>C | CA346001369 | APOB | c.6609T>G (p.Asp2203Glu) c.5869+474T>G (n.5869+474T>G) | |
2 | g.21010259A>G | CA43505063 | APOB | c.6609T>C (p.Asp2203=) c.5869+474T>C (n.5869+474T>C) | dbSNP gnomAD v4 |
2 | g.21010259A>T | CA346001370 | APOB | c.6609T>A (p.Asp2203Glu) c.5869+474T>A (n.5869+474T>A) | |
2 | g.21010260T>A | CA346001371 | APOB | c.6608A>T (p.Asp2203Val) c.5869+473A>T (n.5869+473A>T) | |
2 | g.21010260T>C | CA346001372 | APOB | c.6608A>G (p.Asp2203Gly) c.5869+473A>G (n.5869+473A>G) | gnomAD v4 |
2 | g.21010260T>G | CA346001373 | APOB | c.6608A>C (p.Asp2203Ala) c.5869+473A>C (n.5869+473A>C) | |
2 | g.21010261C>A | CA346001374 | APOB | c.6607G>T (p.Asp2203Tyr) c.5869+472G>T (n.5869+472G>T) | dbSNP gnomAD v4 |
2 | g.21010261C= | CA2493476615 | APOB | c.6607G= (p.Asp2203=) c.5869+472G= (n.5869+472G=) | |
2 | g.21010261C>G | CA346001375 | APOB | c.6607G>C (p.Asp2203His) c.5869+472G>C (n.5869+472G>C) | COSMIC |
2 | g.21010261C>T | CA346001376 | APOB | c.6607G>A (p.Asp2203Asn) c.5869+472G>A (n.5869+472G>A) | |
2 | g.21010261_21010264delinsCAAT | CA2493476614 | APOB | c.6604_6607delinsATTG (p.Ile2202=) c.5869+469_5869+472delinsATTG (n.5869+469_5869+472delinsATTG) | |
2 | g.21010262A>C | CA346001377 | APOB | c.6606T>G (p.Ile2202Met) c.5869+471T>G (n.5869+471T>G) | |
2 | g.21010262A>G | CA425345723 | APOB | c.6606T>C (p.Ile2202=) c.5869+471T>C (n.5869+471T>C) | gnomAD v4 |
2 | g.21010262A>T | CA425345724 | APOB | c.6606T>A (p.Ile2202=) c.5869+471T>A (n.5869+471T>A) | |
2 | g.21010266_21010268del | CA531312748 | APOB | c.6604_6606del (p.Ile2202del) c.5869+469_5869+471del (n.5869+469_5869+471del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010263A>C | CA346001378 | APOB | c.6605T>G (p.Ile2202Ser) c.5869+470T>G (n.5869+470T>G) | |
2 | g.21010263A>G | CA346001379 | APOB | c.6605T>C (p.Ile2202Thr) c.5869+470T>C (n.5869+470T>C) | gnomAD v4 |
2 | g.21010263A>T | CA346001380 | APOB | c.6605T>A (p.Ile2202Asn) c.5869+470T>A (n.5869+470T>A) | gnomAD v4 |
2 | g.21010264T>A | CA063387 | APOB | c.6604A>T (p.Ile2202Phe) c.5869+469A>T (n.5869+469A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010264T>C | CA346001382 | APOB | c.6604A>G (p.Ile2202Val) c.5869+469A>G (n.5869+469A>G) | |
2 | g.21010264T>G | CA346001381 | APOB | c.6604A>C (p.Ile2202Leu) c.5869+469A>C (n.5869+469A>C) | |
2 | g.21010264T= | CA2493476616 | APOB | c.6604A= (p.Ile2202=) c.5869+469A= (n.5869+469A=) | |
2 | g.21010265A>C | CA346001383 | APOB | c.6603T>G (p.Ile2201Met) c.5869+468T>G (n.5869+468T>G) | |
2 | g.21010265A>G | CA425345725 | APOB | c.6603T>C (p.Ile2201=) c.5869+468T>C (n.5869+468T>C) | |
2 | g.21010265A>T | CA425345726 | APOB | c.6603T>A (p.Ile2201=) c.5869+468T>A (n.5869+468T>A) | |
2 | g.21010266A>C | CA346001384 | APOB | c.6602T>G (p.Ile2201Ser) c.5869+467T>G (n.5869+467T>G) | |
2 | g.21010266A>G | CA346001385 | APOB | c.6602T>C (p.Ile2201Thr) c.5869+467T>C (n.5869+467T>C) | |
2 | g.21010266A>T | CA346001386 | APOB | c.6602T>A (p.Ile2201Asn) c.5869+467T>A (n.5869+467T>A) | |
2 | g.21010267T>A | CA346001387 | APOB | c.6601A>T (p.Ile2201Phe) c.5869+466A>T (n.5869+466A>T) | |
2 | g.21010267T>C | CA346001388 | APOB | c.6601A>G (p.Ile2201Val) c.5869+466A>G (n.5869+466A>G) | |
2 | g.21010267T>G | CA346001389 | APOB | c.6601A>C (p.Ile2201Leu) c.5869+466A>C (n.5869+466A>C) | |
2 | g.21010268A= | CA2493476617 | APOB | c.6600T= (p.Asn2200=) c.5869+465T= (n.5869+465T=) | |
2 | g.21010268A>C | CA346001390 | APOB | c.6600T>G (p.Asn2200Lys) c.5869+465T>G (n.5869+465T>G) | dbSNP |
2 | g.21010268A>G | CA425345727 | APOB | c.6600T>C (p.Asn2200=) c.5869+465T>C (n.5869+465T>C) | |
2 | g.21010268A>T | CA346001391 | APOB | c.6600T>A (p.Asn2200Lys) c.5869+465T>A (n.5869+465T>A) | |
2 | g.21010269T>A | CA346001394 | APOB | c.6599A>T (p.Asn2200Ile) c.5869+464A>T (n.5869+464A>T) | |
2 | g.21010269T>C | CA346001393 | APOB | c.6599A>G (p.Asn2200Ser) c.5869+464A>G (n.5869+464A>G) | dbSNP |
2 | g.21010269T>G | CA346001392 | APOB | c.6599A>C (p.Asn2200Thr) c.5869+464A>C (n.5869+464A>C) | |
2 | g.21010269T= | CA2493476618 | APOB | c.6599A= (p.Asn2200=) c.5869+464A= (n.5869+464A=) | |
2 | g.21010270T>A | CA346001395 | APOB | c.6598A>T (p.Asn2200Tyr) c.5869+463A>T (n.5869+463A>T) | |
2 | g.21010270T>C | CA346001396 | APOB | c.6598A>G (p.Asn2200Asp) c.5869+463A>G (n.5869+463A>G) | dbSNP |
2 | g.21010270T>G | CA346001397 | APOB | c.6598A>C (p.Asn2200His) c.5869+463A>C (n.5869+463A>C) | dbSNP |
2 | g.21010270T= | CA2493476619 | APOB | c.6598A= (p.Asn2200=) c.5869+463A= (n.5869+463A=) | |
2 | g.21010271A>C | CA425345731 | APOB | c.6597T>G (p.Ala2199=) c.5869+462T>G (n.5869+462T>G) | |
2 | g.21010271A>G | CA425345730 | APOB | c.6597T>C (p.Ala2199=) c.5869+462T>C (n.5869+462T>C) | |
2 | g.21010271A>T | CA425345729 | APOB | c.6597T>A (p.Ala2199=) c.5869+462T>A (n.5869+462T>A) | |
2 | g.21010272G>A | CA43505067 | APOB | c.6596C>T (p.Ala2199Val) c.5869+461C>T (n.5869+461C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.21010272G>C | CA346001398 | APOB | c.6596C>G (p.Ala2199Gly) c.5869+461C>G (n.5869+461C>G) | |
2 | g.21010272G= | CA2493476620 | APOB | c.6596C= (p.Ala2199=) c.5869+461C= (n.5869+461C=) | |
2 | g.21010272G>T | CA346001399 | APOB | c.6596C>A (p.Ala2199Asp) c.5869+461C>A (n.5869+461C>A) | |
2 | g.21010273C>A | CA346001400 | APOB | c.6595G>T (p.Ala2199Ser) c.5869+460G>T (n.5869+460G>T) | gnomAD v4 |
2 | g.21010273C= | CA2493476621 | APOB | c.6595G= (p.Ala2199=) c.5869+460G= (n.5869+460G=) | |
2 | g.21010273C>G | CA346001401 | APOB | c.6595G>C (p.Ala2199Pro) c.5869+460G>C (n.5869+460G>C) | |
2 | g.21010273C>T | CA063379 | APOB | c.6595G>A (p.Ala2199Thr) c.5869+460G>A (n.5869+460G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010274A>C | CA346001402 | APOB | c.6594T>G (p.Ile2198Met) c.5869+459T>G (n.5869+459T>G) | |
2 | g.21010274A>G | CA425345735 | APOB | c.6594T>C (p.Ile2198=) c.5869+459T>C (n.5869+459T>C) | gnomAD v4 |
2 | g.21010274A>T | CA425345734 | APOB | c.6594T>A (p.Ile2198=) c.5869+459T>A (n.5869+459T>A) | |
2 | g.21010275A>C | CA346001403 | APOB | c.6593T>G (p.Ile2198Ser) c.5869+458T>G (n.5869+458T>G) | |
2 | g.21010275A>G | CA346001404 | APOB | c.6593T>C (p.Ile2198Thr) c.5869+458T>C (n.5869+458T>C) | |
2 | g.21010275A>T | CA346001405 | APOB | c.6593T>A (p.Ile2198Asn) c.5869+458T>A (n.5869+458T>A) | |
2 | g.21010276T>A | CA346001406 | APOB | c.6592A>T (p.Ile2198Phe) c.5869+457A>T (n.5869+457A>T) | |
2 | g.21010276T>C | CA346001408 | APOB | c.6592A>G (p.Ile2198Val) c.5869+457A>G (n.5869+457A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010276T>G | CA346001407 | APOB | c.6592A>C (p.Ile2198Leu) c.5869+457A>C (n.5869+457A>C) | |
2 | g.21010276T= | CA2493476622 | APOB | c.6592A= (p.Ile2198=) c.5869+457A= (n.5869+457A=) | |
2 | g.21010277A>C | CA425345737 | APOB | c.6591T>G (p.Ala2197=) c.5869+456T>G (n.5869+456T>G) | |
2 | g.21010277A>G | CA425345739 | APOB | c.6591T>C (p.Ala2197=) c.5869+456T>C (n.5869+456T>C) | |
2 | g.21010277A>T | CA425345741 | APOB | c.6591T>A (p.Ala2197=) c.5869+456T>A (n.5869+456T>A) | |
2 | g.21010278G>A | CA346001409 | APOB | c.6590C>T (p.Ala2197Val) c.5869+455C>T (n.5869+455C>T) | dbSNP |
2 | g.21010278G>C | CA346001410 | APOB | c.6590C>G (p.Ala2197Gly) c.5869+455C>G (n.5869+455C>G) | |
2 | g.21010278G= | CA2493476623 | APOB | c.6590C= (p.Ala2197=) c.5869+455C= (n.5869+455C=) | |
2 | g.21010278G>T | CA346001411 | APOB | c.6590C>A (p.Ala2197Asp) c.5869+455C>A (n.5869+455C>A) | dbSNP gnomAD v4 |
2 | g.21010279C>A | CA346001412 | APOB | c.6589G>T (p.Ala2197Ser) c.5869+454G>T (n.5869+454G>T) | |
2 | g.21010279C= | CA2493476624 | APOB | c.6589G= (p.Ala2197=) c.5869+454G= (n.5869+454G=) | |
2 | g.21010279C>G | CA346001413 | APOB | c.6589G>C (p.Ala2197Pro) c.5869+454G>C (n.5869+454G>C) | |
2 | g.21010279C>T | CA346001414 | APOB | c.6589G>A (p.Ala2197Thr) c.5869+454G>A (n.5869+454G>A) | dbSNP |
2 | g.21010280T>A | CA425345744 | APOB | c.6588A>T (p.Ile2196=) c.5869+453A>T (n.5869+453A>T) | |
2 | g.21010280T>C | CA346001415 | APOB | c.6588A>G (p.Ile2196Met) c.5869+453A>G (n.5869+453A>G) | |
2 | g.21010280T>G | CA425345745 | APOB | c.6588A>C (p.Ile2196=) c.5869+453A>C (n.5869+453A>C) | |
2 | g.21010281A= | CA2493476625 | APOB | c.6587T= (p.Ile2196=) c.5869+452T= (n.5869+452T=) | |
2 | g.21010281A>C | CA346001416 | APOB | c.6587T>G (p.Ile2196Arg) c.5869+452T>G (n.5869+452T>G) | dbSNP |
2 | g.21010281A>G | CA346001417 | APOB | c.6587T>C (p.Ile2196Thr) c.5869+452T>C (n.5869+452T>C) | gnomAD v4 |
2 | g.21010281A>T | CA346001418 | APOB | c.6587T>A (p.Ile2196Lys) c.5869+452T>A (n.5869+452T>A) | |
2 | g.21010282T>A | CA346001421 | APOB | c.6586A>T (p.Ile2196Leu) c.5869+451A>T (n.5869+451A>T) | |
2 | g.21010282T>C | CA346001420 | APOB | c.6586A>G (p.Ile2196Val) c.5869+451A>G (n.5869+451A>G) | |
2 | g.21010282T>G | CA346001419 | APOB | c.6586A>C (p.Ile2196Leu) c.5869+451A>C (n.5869+451A>C) | |
2 | g.21010283T>A | CA063372 | APOB | c.6585A>T (p.Lys2195Asn) c.5869+450A>T (n.5869+450A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010283T>C | CA425345746 | APOB | c.6585A>G (p.Lys2195=) c.5869+450A>G (n.5869+450A>G) | COSMIC |
2 | g.21010283T>G | CA346001422 | APOB | c.6585A>C (p.Lys2195Asn) c.5869+450A>C (n.5869+450A>C) | |
2 | g.21010283T= | CA2493476626 | APOB | c.6585A= (p.Lys2195=) c.5869+450A= (n.5869+450A=) | |
2 | g.21010284T>A | CA346001423 | APOB | c.6584A>T (p.Lys2195Ile) c.5869+449A>T (n.5869+449A>T) | gnomAD v4 |
2 | g.21010284T>C | CA346001425 | APOB | c.6584A>G (p.Lys2195Arg) c.5869+449A>G (n.5869+449A>G) | |
2 | g.21010284T>G | CA346001424 | APOB | c.6584A>C (p.Lys2195Thr) c.5869+449A>C (n.5869+449A>C) | |
2 | g.21010285T>A | CA346001426 | APOB | c.6583A>T (p.Lys2195Ter) c.5869+448A>T (n.5869+448A>T) | |
2 | g.21010285T>C | CA346001427 | APOB | c.6583A>G (p.Lys2195Glu) c.5869+448A>G (n.5869+448A>G) | ClinVar gnomAD v4 |
2 | g.21010285T>G | CA346001428 | APOB | c.6583A>C (p.Lys2195Gln) c.5869+448A>C (n.5869+448A>C) | |
2 | g.21010286C>A | CA346001429 | APOB | c.6582G>T (p.Leu2194Phe) c.5869+447G>T (n.5869+447G>T) | |
2 | g.21010286C= | CA2493476627 | APOB | c.6582G= (p.Leu2194=) c.5869+447G= (n.5869+447G=) | |
2 | g.21010286C>G | CA346001430 | APOB | c.6582G>C (p.Leu2194Phe) c.5869+447G>C (n.5869+447G>C) | |
2 | g.21010286C>T | CA425345748 | APOB | c.6582G>A (p.Leu2194=) c.5869+447G>A (n.5869+447G>A) | dbSNP |
2 | g.21010287A>C | CA346001431 | APOB | c.6581T>G (p.Leu2194Trp) c.5869+446T>G (n.5869+446T>G) | |
2 | g.21010287A>G | CA346001432 | APOB | c.6581T>C (p.Leu2194Ser) c.5869+446T>C (n.5869+446T>C) | |
2 | g.21010287A>T | CA346001433 | APOB | c.6581T>A (p.Leu2194Ter) c.5869+446T>A (n.5869+446T>A) | |
2 | g.21010294_21010302del | CA2658056048 | APOB | c.6573_6581del (p.His2192_Leu2194del) c.5869+438_5869+446del (n.5869+438_5869+446del) | gnomAD v4 |
2 | g.21010288A>C | CA346001434 | APOB | c.6580T>G (p.Leu2194Val) c.5869+445T>G (n.5869+445T>G) | |
2 | g.21010288A>G | CA425345750 | APOB | c.6580T>C (p.Leu2194=) c.5869+445T>C (n.5869+445T>C) | |
2 | g.21010288A>T | CA346001435 | APOB | c.6580T>A (p.Leu2194Met) c.5869+445T>A (n.5869+445T>A) | |
2 | g.21010289A= | CA2493476628 | APOB | c.6579T= (p.Asp2193=) c.5869+444T= (n.5869+444T=) | |
2 | g.21010289A>C | CA346001436 | APOB | c.6579T>G (p.Asp2193Glu) c.5869+444T>G (n.5869+444T>G) | gnomAD v4 |
2 | g.21010289A>G | CA425345753 | APOB | c.6579T>C (p.Asp2193=) c.5869+444T>C (n.5869+444T>C) | dbSNP |
2 | g.21010289A>T | CA346001437 | APOB | c.6579T>A (p.Asp2193Glu) c.5869+444T>A (n.5869+444T>A) | dbSNP |
2 | g.21010290T>A | CA346001440 | APOB | c.6578A>T (p.Asp2193Val) c.5869+443A>T (n.5869+443A>T) | |
2 | g.21010290T>C | CA346001438 | APOB | c.6578A>G (p.Asp2193Gly) c.5869+443A>G (n.5869+443A>G) | |
2 | g.21010290T>G | CA346001439 | APOB | c.6578A>C (p.Asp2193Ala) c.5869+443A>C (n.5869+443A>C) | |
2 | g.21010291C>A | CA346001441 | APOB | c.6577G>T (p.Asp2193Tyr) c.5869+442G>T (n.5869+442G>T) | gnomAD v4 |
2 | g.21010291C= | CA2493476629 | APOB | c.6577G= (p.Asp2193=) c.5869+442G= (n.5869+442G=) | |
2 | g.21010291C>G | CA346001442 | APOB | c.6577G>C (p.Asp2193His) c.5869+442G>C (n.5869+442G>C) | |
2 | g.21010291C>T | CA346001443 | APOB | c.6577G>A (p.Asp2193Asn) c.5869+442G>A (n.5869+442G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010292A>C | CA346001444 | APOB | c.6576T>G (p.His2192Gln) c.5869+441T>G (n.5869+441T>G) | |
2 | g.21010292A>G | CA425345756 | APOB | c.6576T>C (p.His2192=) c.5869+441T>C (n.5869+441T>C) | gnomAD v4 |
2 | g.21010292A>T | CA346001445 | APOB | c.6576T>A (p.His2192Gln) c.5869+441T>A (n.5869+441T>A) | |
2 | g.21010293T>A | CA346001446 | APOB | c.6575A>T (p.His2192Leu) c.5869+440A>T (n.5869+440A>T) | |
2 | g.21010293T>C | CA346001447 | APOB | c.6575A>G (p.His2192Arg) c.5869+440A>G (n.5869+440A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.21010293T>G | CA346001448 | APOB | c.6575A>C (p.His2192Pro) c.5869+440A>C (n.5869+440A>C) | |
2 | g.21010293T= | CA2493476630 | APOB | c.6575A= (p.His2192=) c.5869+440A= (n.5869+440A=) | |
2 | g.21010294G>A | CA346001449 | APOB | c.6574C>T (p.His2192Tyr) c.5869+439C>T (n.5869+439C>T) | |
2 | g.21010294G>C | CA346001450 | APOB | c.6574C>G (p.His2192Asp) c.5869+439C>G (n.5869+439C>G) | |
2 | g.21010294G>T | CA346001451 | APOB | c.6574C>A (p.His2192Asn) c.5869+439C>A (n.5869+439C>A) | gnomAD v4 |
2 | g.21010295T>A | CA346001452 | APOB | c.6573A>T (p.Leu2191Phe) c.5869+438A>T (n.5869+438A>T) | |
2 | g.21010295T>C | CA425345757 | APOB | c.6573A>G (p.Leu2191=) c.5869+438A>G (n.5869+438A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010295T>G | CA346001453 | APOB | c.6573A>C (p.Leu2191Phe) c.5869+438A>C (n.5869+438A>C) | |
2 | g.21010295T= | CA2493476631 | APOB | c.6573A= (p.Leu2191=) c.5869+438A= (n.5869+438A=) | |
2 | g.21010296A= | CA2493476632 | APOB | c.6572T= (p.Leu2191=) c.5869+437T= (n.5869+437T=) | |
2 | g.21010296A>C | CA346001454 | APOB | c.6572T>G (p.Leu2191Ter) c.5869+437T>G (n.5869+437T>G) | |
2 | g.21010296A>G | CA063363 | APOB | c.6572T>C (p.Leu2191Ser) c.5869+437T>C (n.5869+437T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010296A>T | CA346001455 | APOB | c.6572T>A (p.Leu2191Ter) c.5869+437T>A (n.5869+437T>A) | |
2 | g.21010297A= | CA2493476633 | APOB | c.6571T= (p.Leu2191=) c.5869+436T= (n.5869+436T=) | |
2 | g.21010297A>C | CA346001456 | APOB | c.6571T>G (p.Leu2191Val) c.5869+436T>G (n.5869+436T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010297A>G | CA425345760 | APOB | c.6571T>C (p.Leu2191=) c.5869+436T>C (n.5869+436T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.21010297A>T | CA346001457 | APOB | c.6571T>A (p.Leu2191Ile) c.5869+436T>A (n.5869+436T>A) | ClinVar gnomAD v4 |
2 | g.21010298A>C | CA346001458 | APOB | c.6570T>G (p.Asp2190Glu) c.5869+435T>G (n.5869+435T>G) | |
2 | g.21010298A>G | CA425345761 | APOB | c.6570T>C (p.Asp2190=) c.5869+435T>C (n.5869+435T>C) | |
2 | g.21010298A>T | CA346001459 | APOB | c.6570T>A (p.Asp2190Glu) c.5869+435T>A (n.5869+435T>A) | |
2 | g.21010299T>A | CA346001460 | APOB | c.6569A>T (p.Asp2190Val) c.5869+434A>T (n.5869+434A>T) | |
2 | g.21010299T>C | CA346001461 | APOB | c.6569A>G (p.Asp2190Gly) c.5869+434A>G (n.5869+434A>G) | gnomAD v4 |
2 | g.21010299T>G | CA346001462 | APOB | c.6569A>C (p.Asp2190Ala) c.5869+434A>C (n.5869+434A>C) | |
2 | g.21010300C>A | CA346001463 | APOB | c.6568G>T (p.Asp2190Tyr) c.5869+433G>T (n.5869+433G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010300C= | CA2493476634 | APOB | c.6568G= (p.Asp2190=) c.5869+433G= (n.5869+433G=) | |
2 | g.21010300C>G | CA346001464 | APOB | c.6568G>C (p.Asp2190His) c.5869+433G>C (n.5869+433G>C) | |
2 | g.21010300C>T | CA346001465 | APOB | c.6568G>A (p.Asp2190Asn) c.5869+433G>A (n.5869+433G>A) | |
2 | g.21010301A= | CA2493476635 | APOB | c.6567T= (p.Tyr2189=) c.5869+432T= (n.5869+432T=) | |
2 | g.21010301A>C | CA346001466 | APOB | c.6567T>G (p.Tyr2189Ter) c.5869+432T>G (n.5869+432T>G) | |
2 | g.21010301A>G | CA425345766 | APOB | c.6567T>C (p.Tyr2189=) c.5869+432T>C (n.5869+432T>C) | gnomAD v4 |
2 | g.21010301A>T | CA346001467 | APOB | c.6567T>A (p.Tyr2189Ter) c.5869+432T>A (n.5869+432T>A) | ClinVar dbSNP |
2 | g.21010302T>A | CA346001468 | APOB | c.6566A>T (p.Tyr2189Phe) c.5869+431A>T (n.5869+431A>T) | |
2 | g.21010302T>C | CA346001469 | APOB | c.6566A>G (p.Tyr2189Cys) c.5869+431A>G (n.5869+431A>G) | gnomAD v4 COSMIC |
2 | g.21010302T>G | CA346001470 | APOB | c.6566A>C (p.Tyr2189Ser) c.5869+431A>C (n.5869+431A>C) |