Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.169154495A>CCA349137102LRP2c.12260T>G (p.Val4087Gly)
c.3160T>G
c.1288T>G (p.Leu430Val)
c.12131T>G (p.Val4044Gly)
c.9971T>G (p.Val3324Gly)
2g.169154495A>GCA349137104LRP2c.12260T>C (p.Val4087Ala)
c.3160T>C
c.1288T>C (p.Leu430=)
c.12131T>C (p.Val4044Ala)
c.9971T>C (p.Val3324Ala)
 gnomAD v4
2g.169154495A>TCA349137106LRP2c.12260T>A (p.Val4087Asp)
c.3160T>A
c.1288T>A (p.Leu430Met)
c.12131T>A (p.Val4044Asp)
c.9971T>A (p.Val3324Asp)
2g.169154496C>ACA349137109LRP2c.12259G>T (p.Val4087Phe)
c.3159G>T
c.1287G>T (p.Leu429=)
c.12130G>T (p.Val4044Phe)
c.9970G>T (p.Val3324Phe)
2g.169154496C>GCA349137113LRP2c.12259G>C (p.Val4087Leu)
c.3159G>C
c.1287G>C (p.Leu429=)
c.12130G>C (p.Val4044Leu)
c.9970G>C (p.Val3324Leu)
2g.169154496C>TCA349137112LRP2c.12259G>A (p.Val4087Ile)
c.3159G>A
c.1287G>A (p.Leu429=)
c.12130G>A (p.Val4044Ile)
c.9970G>A (p.Val3324Ile)
 gnomAD v4
2g.169154497A>CCA429922559LRP2c.12258T>G (p.Ala4086=)
c.3158T>G
c.1286T>G (p.Leu429Arg)
c.12129T>G (p.Ala4043=)
c.9969T>G (p.Ala3323=)
2g.169154497A>GCA429922560LRP2c.12258T>C (p.Ala4086=)
c.3158T>C
c.1286T>C (p.Leu429Pro)
c.12129T>C (p.Ala4043=)
c.9969T>C (p.Ala3323=)
2g.169154497A>TCA429922561LRP2c.12258T>A (p.Ala4086=)
c.3158T>A
c.1286T>A (p.Leu429Gln)
c.12129T>A (p.Ala4043=)
c.9969T>A (p.Ala3323=)
2g.169154498G>ACA349137114LRP2c.12257C>T (p.Ala4086Val)
c.3157C>T
c.1285C>T (p.Leu429=)
c.12128C>T (p.Ala4043Val)
c.9968C>T (p.Ala3323Val)
2g.169154498G>CCA349137116LRP2c.12257C>G (p.Ala4086Gly)
c.3157C>G
c.1285C>G (p.Leu429Val)
c.12128C>G (p.Ala4043Gly)
c.9968C>G (p.Ala3323Gly)
2g.169154498G=CA1306305589LRP2c.12257C= (p.Ala4086=)
c.3157C=
c.1285C= (p.Leu429=)
c.12128C= (p.Ala4043=)
c.9968C= (p.Ala3323=)
2g.169154498G>TCA1952855LRP2c.12257C>A (p.Ala4086Asp)
c.3157C>A
c.1285C>A (p.Leu429Met)
c.12128C>A (p.Ala4043Asp)
c.9968C>A (p.Ala3323Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169154499C>ACA349137119LRP2c.12256G>T (p.Ala4086Ser)
c.3156G>T
c.1284G>T (p.Lys428Asn)
c.12127G>T (p.Ala4043Ser)
c.9967G>T (p.Ala3323Ser)
2g.169154499C>GCA349137122LRP2c.12256G>C (p.Ala4086Pro)
c.3156G>C
c.1284G>C (p.Lys428Asn)
c.12127G>C (p.Ala4043Pro)
c.9967G>C (p.Ala3323Pro)
2g.169154499C>TCA349137123LRP2c.12256G>A (p.Ala4086Thr)
c.3156G>A
c.1284G>A (p.Lys428=)
c.12127G>A (p.Ala4043Thr)
c.9967G>A (p.Ala3323Thr)
 gnomAD v4
2g.169154500T>ACA349137125LRP2c.12255A>T (p.Gln4085His)
c.3155A>T
c.1283A>T (p.Lys428Met)
c.12126A>T (p.Gln4042His)
c.9966A>T (p.Gln3322His)
2g.169154500T>CCA429922562LRP2c.12255A>G (p.Gln4085=)
c.3155A>G
c.1283A>G (p.Lys428Arg)
c.12126A>G (p.Gln4042=)
c.9966A>G (p.Gln3322=)
2g.169154500T>GCA349137126LRP2c.12255A>C (p.Gln4085His)
c.3155A>C
c.1283A>C (p.Lys428Thr)
c.12126A>C (p.Gln4042His)
c.9966A>C (p.Gln3322His)
2g.169154501T>ACA349137129LRP2c.12254A>T (p.Gln4085Leu)
c.3154A>T
c.1282A>T (p.Lys428Ter)
c.12125A>T (p.Gln4042Leu)
c.9965A>T (p.Gln3322Leu)
2g.169154501T>CCA349137132LRP2c.12254A>G (p.Gln4085Arg)
c.3154A>G
c.1282A>G (p.Lys428Glu)
c.12125A>G (p.Gln4042Arg)
c.9965A>G (p.Gln3322Arg)
 gnomAD v4
2g.169154501T>GCA349137133LRP2c.12254A>C (p.Gln4085Pro)
c.3154A>C
c.1282A>C (p.Lys428Gln)
c.12125A>C (p.Gln4042Pro)
c.9965A>C (p.Gln3322Pro)
2g.169154502G>ACA349137137LRP2c.12253C>T (p.Gln4085Ter)
c.3153C>T
c.1281C>T (p.Ser427=)
c.12124C>T (p.Gln4042Ter)
c.9964C>T (p.Gln3322Ter)
 COSMIC
2g.169154502G>CCA349137139LRP2c.12253C>G (p.Gln4085Glu)
c.3153C>G
c.1281C>G (p.Ser427=)
c.12124C>G (p.Gln4042Glu)
c.9964C>G (p.Gln3322Glu)
2g.169154502G>TCA349137135LRP2c.12253C>A (p.Gln4085Lys)
c.3153C>A
c.1281C>A (p.Ser427=)
c.12124C>A (p.Gln4042Lys)
c.9964C>A (p.Gln3322Lys)
 gnomAD v4
2g.169154503G>ACA429922564LRP2c.12252C>T (p.Ile4084=)
c.3152C>T
c.1280C>T (p.Ser427Phe)
c.12123C>T (p.Ile4041=)
c.9963C>T (p.Ile3321=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.169154503G>CCA349137142LRP2c.12252C>G (p.Ile4084Met)
c.3152C>G
c.1280C>G (p.Ser427Cys)
c.12123C>G (p.Ile4041Met)
c.9963C>G (p.Ile3321Met)
2g.169154503G=CA1306305592LRP2c.12252C= (p.Ile4084=)
c.3152C=
c.1280C= (p.Ser427=)
c.12123C= (p.Ile4041=)
c.9963C= (p.Ile3321=)
2g.169154503G>TCA429922563LRP2c.12252C>A (p.Ile4084=)
c.3152C>A
c.1280C>A (p.Ser427Tyr)
c.12123C>A (p.Ile4041=)
c.9963C>A (p.Ile3321=)
2g.169154504A>CCA349137145LRP2c.12251T>G (p.Ile4084Ser)
c.3151T>G
c.1279T>G (p.Ser427Ala)
c.12122T>G (p.Ile4041Ser)
c.9962T>G (p.Ile3321Ser)
2g.169154504A>GCA349137147LRP2c.12251T>C (p.Ile4084Thr)
c.3151T>C
c.1279T>C (p.Ser427Pro)
c.12122T>C (p.Ile4041Thr)
c.9962T>C (p.Ile3321Thr)
2g.169154504A>TCA349137154LRP2c.12251T>A (p.Ile4084Asn)
c.3151T>A
c.1279T>A (p.Ser427Thr)
c.12122T>A (p.Ile4041Asn)
c.9962T>A (p.Ile3321Asn)
2g.169154505T>ACA349137156LRP2c.12250A>T (p.Ile4084Phe)
c.3150A>T
c.1278A>T (p.Ile426=)
c.12121A>T (p.Ile4041Phe)
c.9961A>T (p.Ile3321Phe)
2g.169154505T>CCA349137159LRP2c.12250A>G (p.Ile4084Val)
c.3150A>G
c.1278A>G (p.Ile426Met)
c.12121A>G (p.Ile4041Val)
c.9961A>G (p.Ile3321Val)
2g.169154505T>GCA349137160LRP2c.12250A>C (p.Ile4084Leu)
c.3150A>C
c.1278A>C (p.Ile426=)
c.12121A>C (p.Ile4041Leu)
c.9961A>C (p.Ile3321Leu)
2g.169154506A=CA1306305597LRP2c.12249T= (p.Tyr4083=)
c.3149T=
c.1277T= (p.Ile426=)
c.12120T= (p.Tyr4040=)
c.9960T= (p.Tyr3320=)
2g.169154506A>CCA349137164LRP2c.12249T>G (p.Tyr4083Ter)
c.3149T>G
c.1277T>G (p.Ile426Arg)
c.12120T>G (p.Tyr4040Ter)
c.9960T>G (p.Tyr3320Ter)
2g.169154506A>GCA1952856LRP2c.12249T>C (p.Tyr4083=)
c.3149T>C
c.1277T>C (p.Ile426Thr)
c.12120T>C (p.Tyr4040=)
c.9960T>C (p.Tyr3320=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.169154506A>TCA349137167LRP2c.12249T>A (p.Tyr4083Ter)
c.3149T>A
c.1277T>A (p.Ile426Lys)
c.12120T>A (p.Tyr4040Ter)
c.9960T>A (p.Tyr3320Ter)
2g.169154507T>ACA349137172LRP2c.12248A>T (p.Tyr4083Phe)
c.3148A>T
c.1276A>T (p.Ile426Leu)
c.12119A>T (p.Tyr4040Phe)
c.9959A>T (p.Tyr3320Phe)
 dbSNP
2g.169154507T>CCA349137174LRP2c.12248A>G (p.Tyr4083Cys)
c.3148A>G
c.1276A>G (p.Ile426Val)
c.12119A>G (p.Tyr4040Cys)
c.9959A>G (p.Tyr3320Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.169154507T>GCA349137176LRP2c.12248A>C (p.Tyr4083Ser)
c.3148A>C
c.1276A>C (p.Ile426Leu)
c.12119A>C (p.Tyr4040Ser)
c.9959A>C (p.Tyr3320Ser)
2g.169154507T=CA1306305602LRP2c.12248A= (p.Tyr4083=)
c.3148A=
c.1276A= (p.Ile426=)
c.12119A= (p.Tyr4040=)
c.9959A= (p.Tyr3320=)
2g.169154508A=CA1306305604LRP2c.12247T= (p.Tyr4083=)
c.3147T=
c.1275T= (p.Asn425=)
c.12118T= (p.Tyr4040=)
c.9958T= (p.Tyr3320=)
2g.169154508A>CCA349137183LRP2c.12247T>G (p.Tyr4083Asp)
c.3147T>G
c.1275T>G (p.Asn425Lys)
c.12118T>G (p.Tyr4040Asp)
c.9958T>G (p.Tyr3320Asp)
2g.169154508A>GCA349137182LRP2c.12247T>C (p.Tyr4083His)
c.3147T>C
c.1275T>C (p.Asn425=)
c.12118T>C (p.Tyr4040His)
c.9958T>C (p.Tyr3320His)
2g.169154508A>TCA349137179LRP2c.12247T>A (p.Tyr4083Asn)
c.3147T>A
c.1275T>A (p.Asn425Lys)
c.12118T>A (p.Tyr4040Asn)
c.9958T>A (p.Tyr3320Asn)
 dbSNP
2g.169154509T>ACA349137185LRP2c.12246A>T (p.Glu4082Asp)
c.3146A>T
c.1274A>T (p.Asn425Ile)
c.12117A>T (p.Glu4039Asp)
c.9957A>T (p.Glu3319Asp)
 gnomAD v4
2g.169154509T>CCA429922566LRP2c.12246A>G (p.Glu4082=)
c.3146A>G
c.1274A>G (p.Asn425Ser)
c.12117A>G (p.Glu4039=)
c.9957A>G (p.Glu3319=)
 gnomAD v4
2g.169154509T>GCA349137189LRP2c.12246A>C (p.Glu4082Asp)
c.3146A>C
c.1274A>C (p.Asn425Thr)
c.12117A>C (p.Glu4039Asp)
c.9957A>C (p.Glu3319Asp)

Number of alleles fetched