Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.169247305G>ACA2753103726LRP2c.2908+73C>T (n.2908+73C>T)
c.2497+73C>T (n.2497+73C>T)
c.619+73C>T (n.619+73C>T)
2g.169247306A>GCA2577150221LRP2c.2908+72T>C (n.2908+72T>C)
c.2497+72T>C (n.2497+72T>C)
c.619+72T>C (n.619+72T>C)
 gnomAD v4
2g.169247307G>TCA2661823152LRP2c.2908+71C>A (n.2908+71C>A)
c.2497+71C>A (n.2497+71C>A)
c.619+71C>A (n.619+71C>A)
 gnomAD v4
2g.169247310C>TCA2661823153LRP2c.2908+68G>A (n.2908+68G>A)
c.2497+68G>A (n.2497+68G>A)
c.619+68G>A (n.619+68G>A)
 gnomAD v4
2g.169247311A>TCA2661823154LRP2c.2908+67T>A (n.2908+67T>A)
c.2497+67T>A (n.2497+67T>A)
c.619+67T>A (n.619+67T>A)
 gnomAD v4
2g.169247312G>ACA2661823155LRP2c.2908+66C>T (n.2908+66C>T)
c.2497+66C>T (n.2497+66C>T)
c.619+66C>T (n.619+66C>T)
 gnomAD v4
2g.169247312G>TCA2661823156LRP2c.2908+66C>A (n.2908+66C>A)
c.2497+66C>A (n.2497+66C>A)
c.619+66C>A (n.619+66C>A)
 gnomAD v4
2g.169247313G>ACA2577150222LRP2c.2908+65C>T (n.2908+65C>T)
c.2497+65C>T (n.2497+65C>T)
c.619+65C>T (n.619+65C>T)
 gnomAD v4
2g.169247313G>CCA2661823157LRP2c.2908+65C>G (n.2908+65C>G)
c.2497+65C>G (n.2497+65C>G)
c.619+65C>G (n.619+65C>G)
 gnomAD v4
2g.169247313G=CA1306349611LRP2c.2908+65C= (n.2908+65C=)
c.2497+65C= (n.2497+65C=)
c.619+65C= (n.619+65C=)
2g.169247313G>TCA1039050774LRP2c.2908+65C>A (n.2908+65C>A)
c.2497+65C>A (n.2497+65C>A)
c.619+65C>A (n.619+65C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.169247315G>ACA2577150223LRP2c.2908+63C>T (n.2908+63C>T)
c.2497+63C>T (n.2497+63C>T)
c.619+63C>T (n.619+63C>T)
 gnomAD v4
2g.169247315G>TCA2577150224LRP2c.2908+63C>A (n.2908+63C>A)
c.2497+63C>A (n.2497+63C>A)
c.619+63C>A (n.619+63C>A)
 gnomAD v4
2g.169247316C>ACA2577150225LRP2c.2908+62G>T (n.2908+62G>T)
c.2497+62G>T (n.2497+62G>T)
c.619+62G>T (n.619+62G>T)
2g.169247316C=CA1306349612LRP2c.2908+62G= (n.2908+62G=)
c.2497+62G= (n.2497+62G=)
c.619+62G= (n.619+62G=)
2g.169247316C>TCA59919374LRP2c.2908+62G>A (n.2908+62G>A)
c.2497+62G>A (n.2497+62G>A)
c.619+62G>A (n.619+62G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.169247317C=CA1306349613LRP2c.2908+61G= (n.2908+61G=)
c.2497+61G= (n.2497+61G=)
c.619+61G= (n.619+61G=)
2g.169247317C>TCA59919376LRP2c.2908+61G>A (n.2908+61G>A)
c.2497+61G>A (n.2497+61G>A)
c.619+61G>A (n.619+61G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.169247319C>TCA2661823160LRP2c.2908+59G>A (n.2908+59G>A)
c.2497+59G>A (n.2497+59G>A)
c.619+59G>A (n.619+59G>A)
 gnomAD v4
2g.169247321G>TCA2661823161LRP2c.2908+57C>A (n.2908+57C>A)
c.2497+57C>A (n.2497+57C>A)
c.619+57C>A (n.619+57C>A)
 gnomAD v4
2g.169247322T>CCA2661823163LRP2c.2908+56A>G (n.2908+56A>G)
c.2497+56A>G (n.2497+56A>G)
c.619+56A>G (n.619+56A>G)
 gnomAD v4
2g.169247322dupCA2661823162LRP2c.2908+56dup (n.2908+56dup)
c.2497+56dup (n.2497+56dup)
c.619+56dup (n.619+56dup)
 gnomAD v4
2g.169247323A=CA1306349614LRP2c.2908+55T= (n.2908+55T=)
c.2497+55T= (n.2497+55T=)
c.619+55T= (n.619+55T=)
2g.169247323A>GCA1039050779LRP2c.2908+55T>C (n.2908+55T>C)
c.2497+55T>C (n.2497+55T>C)
c.619+55T>C (n.619+55T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.169247326A=CA1306349615LRP2c.2908+52T= (n.2908+52T=)
c.2497+52T= (n.2497+52T=)
c.619+52T= (n.619+52T=)
2g.169247326A>CCA1039050780LRP2c.2908+52T>G (n.2908+52T>G)
c.2497+52T>G (n.2497+52T>G)
c.619+52T>G (n.619+52T>G)
 dbSNP
2g.169247326A>GCA2661823165LRP2c.2908+52T>C (n.2908+52T>C)
c.2497+52T>C (n.2497+52T>C)
c.619+52T>C (n.619+52T>C)
 gnomAD v4
2g.169247329T>CCA1955173LRP2c.2908+49A>G (n.2908+49A>G)
c.2497+49A>G (n.2497+49A>G)
c.619+49A>G (n.619+49A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169247329T=CA1306349616LRP2c.2908+49A= (n.2908+49A=)
c.2497+49A= (n.2497+49A=)
c.619+49A= (n.619+49A=)
2g.169247332dupCA1955174LRP2c.2908+48dup (n.2908+48dup)
c.2497+48dup (n.2497+48dup)
c.619+48dup (n.619+48dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.169247331A=CA1306349617LRP2c.2908+47T= (n.2908+47T=)
c.2497+47T= (n.2497+47T=)
c.619+47T= (n.619+47T=)
2g.169247331A>CCA537540237LRP2c.2908+47T>G (n.2908+47T>G)
c.2497+47T>G (n.2497+47T>G)
c.619+47T>G (n.619+47T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.169247331A>GCA1039050782LRP2c.2908+47T>C (n.2908+47T>C)
c.2497+47T>C (n.2497+47T>C)
c.619+47T>C (n.619+47T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.169247333T>CCA537540238LRP2c.2908+45A>G (n.2908+45A>G)
c.2497+45A>G (n.2497+45A>G)
c.619+45A>G (n.619+45A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.169247333T=CA1306349618LRP2c.2908+45A= (n.2908+45A=)
c.2497+45A= (n.2497+45A=)
c.619+45A= (n.619+45A=)
2g.169247334A=CA1306349619LRP2c.2908+44T= (n.2908+44T=)
c.2497+44T= (n.2497+44T=)
c.619+44T= (n.619+44T=)
2g.169247334A>GCA1306349620LRP2c.2908+44T>C (n.2908+44T>C)
c.2497+44T>C (n.2497+44T>C)
c.619+44T>C (n.619+44T>C)
 dbSNP
2g.169247336delCA2661823170LRP2c.2908+44del (n.2908+44del)
c.2497+44del (n.2497+44del)
c.619+44del (n.619+44del)
 gnomAD v4
2g.169247335A>GCA647759271LRP2c.2908+43T>C (n.2908+43T>C)
c.2497+43T>C (n.2497+43T>C)
c.619+43T>C (n.619+43T>C)
 COSMIC
2g.169247337C>TCA2661823171LRP2c.2908+41G>A (n.2908+41G>A)
c.2497+41G>A (n.2497+41G>A)
c.619+41G>A (n.619+41G>A)
 gnomAD v4
2g.169247337_169247338insAAAACA2661823172LRP2c.2908+40_2908+41insTTTT (n.2908+40_2908+41insTTTT)
c.2497+40_2497+41insTTTT (n.2497+40_2497+41insTTTT)
c.619+40_619+41insTTTT (n.619+40_619+41insTTTT)
 gnomAD v4
2g.169247338C>TCA2661823173LRP2c.2908+40G>A (n.2908+40G>A)
c.2497+40G>A (n.2497+40G>A)
c.619+40G>A (n.619+40G>A)
 gnomAD v4
2g.169247338_169247339insAAAAAAATACA2661823174LRP2c.2908+39_2908+40insTATTTTTTT (n.2908+39_2908+40insTATTTTTTT)
c.2497+39_2497+40insTATTTTTTT (n.2497+39_2497+40insTATTTTTTT)
c.619+39_619+40insTATTTTTTT (n.619+39_619+40insTATTTTTTT)
 gnomAD v4
2g.169247339C>TCA2661823175LRP2c.2908+39G>A (n.2908+39G>A)
c.2497+39G>A (n.2497+39G>A)
c.619+39G>A (n.619+39G>A)
 gnomAD v4
2g.169247339_169247340insGCA2661823176LRP2c.2908+38_2908+39insC (n.2908+38_2908+39insC)
c.2497+38_2497+39insC (n.2497+38_2497+39insC)
c.619+38_619+39insC (n.619+38_619+39insC)
 gnomAD v4
2g.169247340A=CA1306349621LRP2c.2908+38T= (n.2908+38T=)
c.2497+38T= (n.2497+38T=)
c.619+38T= (n.619+38T=)
2g.169247340A>GCA1306349622LRP2c.2908+38T>C (n.2908+38T>C)
c.2497+38T>C (n.2497+38T>C)
c.619+38T>C (n.619+38T>C)
 dbSNP gnomAD v4
2g.169247341T>CCA760474795LRP2c.2908+37A>G (n.2908+37A>G)
c.2497+37A>G (n.2497+37A>G)
c.619+37A>G (n.619+37A>G)
 dbSNP gnomAD v4
2g.169247341T=CA1306349623LRP2c.2908+37A= (n.2908+37A=)
c.2497+37A= (n.2497+37A=)
c.619+37A= (n.619+37A=)
2g.169247342A=CA1306349624LRP2c.2908+36T= (n.2908+36T=)
c.2497+36T= (n.2497+36T=)
c.619+36T= (n.619+36T=)
2g.169247342A>GCA760474797LRP2c.2908+36T>C (n.2908+36T>C)
c.2497+36T>C (n.2497+36T>C)
c.619+36T>C (n.619+36T>C)
 dbSNP
2g.169247342_169247343delinsACCA1306349625LRP2c.2908+35_2908+36delinsGT (n.2908+35_2908+36delinsGT)
c.2497+35_2497+36delinsGT (n.2497+35_2497+36delinsGT)
c.619+35_619+36delinsGT (n.619+35_619+36delinsGT)
2g.169247343delCA760474809LRP2c.2908+35del (n.2908+35del)
c.2497+35del (n.2497+35del)
c.619+35del (n.619+35del)
 dbSNP gnomAD v3 gnomAD v4
2g.169247343C=CA1306349626LRP2c.2908+35G= (n.2908+35G=)
c.2497+35G= (n.2497+35G=)
c.619+35G= (n.619+35G=)
2g.169247343C>TCA1955175LRP2c.2908+35G>A (n.2908+35G>A)
c.2497+35G>A (n.2497+35G>A)
c.619+35G>A (n.619+35G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.169247343_169247344delinsCACA1306349627LRP2c.2908+34_2908+35delinsTG (n.2908+34_2908+35delinsTG)
c.2497+34_2497+35delinsTG (n.2497+34_2497+35delinsTG)
c.619+34_619+35delinsTG (n.619+34_619+35delinsTG)
2g.169247344A=CA1306349628LRP2c.2908+34T= (n.2908+34T=)
c.2497+34T= (n.2497+34T=)
c.619+34T= (n.619+34T=)
2g.169247344A>CCA1039050795LRP2c.2908+34T>G (n.2908+34T>G)
c.2497+34T>G (n.2497+34T>G)
c.619+34T>G (n.619+34T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.169247344A>GCA2577150226LRP2c.2908+34T>C (n.2908+34T>C)
c.2497+34T>C (n.2497+34T>C)
c.619+34T>C (n.619+34T>C)
 gnomAD v4
2g.169247350dupCA1955177LRP2c.2908+34dup (n.2908+34dup)
c.2497+34dup (n.2497+34dup)
c.619+34dup (n.619+34dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169247350delCA1955176LRP2c.2908+34del (n.2908+34del)
c.2497+34del (n.2497+34del)
c.619+34del (n.619+34del)
 dbSNP ExAC gnomAD v4
2g.169247348A>GCA2577150227LRP2c.2908+30T>C (n.2908+30T>C)
c.2497+30T>C (n.2497+30T>C)
c.619+30T>C (n.619+30T>C)
2g.169247350A>TCA2661823177LRP2c.2908+28T>A (n.2908+28T>A)
c.2497+28T>A (n.2497+28T>A)
c.619+28T>A (n.619+28T>A)
 gnomAD v4
2g.169247351T>ACA2577150228LRP2c.2908+27A>T (n.2908+27A>T)
c.2497+27A>T (n.2497+27A>T)
c.619+27A>T (n.619+27A>T)
2g.169247351T>GCA2661823178LRP2c.2908+27A>C (n.2908+27A>C)
c.2497+27A>C (n.2497+27A>C)
c.619+27A>C (n.619+27A>C)
 gnomAD v4
2g.169247351_169247354delinsTAAACA1306349629LRP2c.2908+24_2908+27delinsTTTA (n.2908+24_2908+27delinsTTTA)
c.2497+24_2497+27delinsTTTA (n.2497+24_2497+27delinsTTTA)
c.619+24_619+27delinsTTTA (n.619+24_619+27delinsTTTA)
2g.169247351_169247352insGCA2700934542LRP2c.2908+26_2908+27insC (n.2908+26_2908+27insC)
c.2497+26_2497+27insC (n.2497+26_2497+27insC)
c.619+26_619+27insC (n.619+26_619+27insC)
 dbSNP
2g.169247352A=CA1306349630LRP2c.2908+26T= (n.2908+26T=)
c.2497+26T= (n.2497+26T=)
c.619+26T= (n.619+26T=)
2g.169247352A>TCA1955180LRP2c.2908+26T>A (n.2908+26T>A)
c.2497+26T>A (n.2497+26T>A)
c.619+26T>A (n.619+26T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169247359dupCA1955178LRP2c.2908+26dup (n.2908+26dup)
c.2497+26dup (n.2497+26dup)
c.619+26dup (n.619+26dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.169247359delCA537540242LRP2c.2908+26del (n.2908+26del)
c.2497+26del (n.2497+26del)
c.619+26del (n.619+26del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.169247357_169247359delCA1955179LRP2c.2908+24_2908+26del (n.2908+24_2908+26del)
c.2497+24_2497+26del (n.2497+24_2497+26del)
c.619+24_619+26del (n.619+24_619+26del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.169247353A=CA1306349631LRP2c.2908+25T= (n.2908+25T=)
c.2497+25T= (n.2497+25T=)
c.619+25T= (n.619+25T=)
2g.169247353A>GCA2661823179LRP2c.2908+25T>C (n.2908+25T>C)
c.2497+25T>C (n.2497+25T>C)
c.619+25T>C (n.619+25T>C)
 gnomAD v4
2g.169247353A>TCA537540243LRP2c.2908+25T>A (n.2908+25T>A)
c.2497+25T>A (n.2497+25T>A)
c.619+25T>A (n.619+25T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.169247354A=CA1306349632LRP2c.2908+24T= (n.2908+24T=)
c.2497+24T= (n.2497+24T=)
c.619+24T= (n.619+24T=)
2g.169247354A>GCA537540244LRP2c.2908+24T>C (n.2908+24T>C)
c.2497+24T>C (n.2497+24T>C)
c.619+24T>C (n.619+24T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.169247357A=CA1306349633LRP2c.2908+21T= (n.2908+21T=)
c.2497+21T= (n.2497+21T=)
c.619+21T= (n.619+21T=)
2g.169247357A>CCA1306349634LRP2c.2908+21T>G (n.2908+21T>G)
c.2497+21T>G (n.2497+21T>G)
c.619+21T>G (n.619+21T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.169247358A=CA1306349635LRP2c.2908+20T= (n.2908+20T=)
c.2497+20T= (n.2497+20T=)
c.619+20T= (n.619+20T=)
2g.169247358A>GCA537540245LRP2c.2908+20T>C (n.2908+20T>C)
c.2497+20T>C (n.2497+20T>C)
c.619+20T>C (n.619+20T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.169247358A>TCA2577150229LRP2c.2908+20T>A (n.2908+20T>A)
c.2497+20T>A (n.2497+20T>A)
c.619+20T>A (n.619+20T>A)
 gnomAD v4
2g.169247359A>CCA2661823180LRP2c.2908+19T>G (n.2908+19T>G)
c.2497+19T>G (n.2497+19T>G)
c.619+19T>G (n.619+19T>G)
 gnomAD v4
2g.169247359A>TCA2661823181LRP2c.2908+19T>A (n.2908+19T>A)
c.2497+19T>A (n.2497+19T>A)
c.619+19T>A (n.619+19T>A)
 gnomAD v4
2g.169247360C>ACA2661823182LRP2c.2908+18G>T (n.2908+18G>T)
c.2497+18G>T (n.2497+18G>T)
c.619+18G>T (n.619+18G>T)
 ClinVar gnomAD v4
2g.169247360C=CA1306349636LRP2c.2908+18G= (n.2908+18G=)
c.2497+18G= (n.2497+18G=)
c.619+18G= (n.619+18G=)
2g.169247360C>TCA1955181LRP2c.2908+18G>A (n.2908+18G>A)
c.2497+18G>A (n.2497+18G>A)
c.619+18G>A (n.619+18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169247361T>CCA2740095880LRP2c.2908+17A>G (n.2908+17A>G)
c.2497+17A>G (n.2497+17A>G)
c.619+17A>G (n.619+17A>G)
 ClinVar
2g.169247362G>CCA2661823183LRP2c.2908+16C>G (n.2908+16C>G)
c.2497+16C>G (n.2497+16C>G)
c.619+16C>G (n.619+16C>G)
 gnomAD v4
2g.169247362G>TCA2577150230LRP2c.2908+16C>A (n.2908+16C>A)
c.2497+16C>A (n.2497+16C>A)
c.619+16C>A (n.619+16C>A)
2g.169247363G>ACA2697551273LRP2c.2908+15C>T (n.2908+15C>T)
c.2497+15C>T (n.2497+15C>T)
c.619+15C>T (n.619+15C>T)
 ClinVar
2g.169247364G>CCA760474821LRP2c.2908+14C>G (n.2908+14C>G)
c.2497+14C>G (n.2497+14C>G)
c.619+14C>G (n.619+14C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.169247364G=CA1306349637LRP2c.2908+14C= (n.2908+14C=)
c.2497+14C= (n.2497+14C=)
c.619+14C= (n.619+14C=)
2g.169247364G>TCA2661823184LRP2c.2908+14C>A (n.2908+14C>A)
c.2497+14C>A (n.2497+14C>A)
c.619+14C>A (n.619+14C>A)
 gnomAD v4
2g.169247365C=CA1306349638LRP2c.2908+13G= (n.2908+13G=)
c.2497+13G= (n.2497+13G=)
c.619+13G= (n.619+13G=)
2g.169247365C>TCA760474823LRP2c.2908+13G>A (n.2908+13G>A)
c.2497+13G>A (n.2497+13G>A)
c.619+13G>A (n.619+13G>A)
 dbSNP
2g.169247366A=CA1306349639LRP2c.2908+12T= (n.2908+12T=)
c.2497+12T= (n.2497+12T=)
c.619+12T= (n.619+12T=)
2g.169247366A>GCA59919386LRP2c.2908+12T>C (n.2908+12T>C)
c.2497+12T>C (n.2497+12T>C)
c.619+12T>C (n.619+12T>C)
 ClinVar dbSNP gnomAD v4
2g.169247367A=CA1306349640LRP2c.2908+11T= (n.2908+11T=)
c.2497+11T= (n.2497+11T=)
c.619+11T= (n.619+11T=)
2g.169247367A>GCA10611796LRP2c.2908+11T>C (n.2908+11T>C)
c.2497+11T>C (n.2497+11T>C)
c.619+11T>C (n.619+11T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.169247368T>ACA1955182LRP2c.2908+10A>T (n.2908+10A>T)
c.2497+10A>T (n.2497+10A>T)
c.619+10A>T (n.619+10A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.169247368T=CA1306349641LRP2c.2908+10A= (n.2908+10A=)
c.2497+10A= (n.2497+10A=)
c.619+10A= (n.619+10A=)
2g.169247370T>ACA1306349643LRP2c.2908+8A>T (n.2908+8A>T)
c.2497+8A>T (n.2497+8A>T)
c.619+8A>T (n.619+8A>T)
 dbSNP gnomAD v4
2g.169247370T>CCA1955183LRP2c.2908+8A>G (n.2908+8A>G)
c.2497+8A>G (n.2497+8A>G)
c.619+8A>G (n.619+8A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169247370T>GCA2739271588LRP2c.2908+8A>C (n.2908+8A>C)
c.2497+8A>C (n.2497+8A>C)
c.619+8A>C (n.619+8A>C)
 ClinVar
2g.169247370T=CA1306349642LRP2c.2908+8A= (n.2908+8A=)
c.2497+8A= (n.2497+8A=)
c.619+8A= (n.619+8A=)
2g.169247371C=CA1306349644LRP2c.2908+7G= (n.2908+7G=)
c.2497+7G= (n.2497+7G=)
c.619+7G= (n.619+7G=)
2g.169247371C>TCA537540253LRP2c.2908+7G>A (n.2908+7G>A)
c.2497+7G>A (n.2497+7G>A)
c.619+7G>A (n.619+7G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.169247372A=CA1306349645LRP2c.2908+6T= (n.2908+6T=)
c.2497+6T= (n.2497+6T=)
c.619+6T= (n.619+6T=)
2g.169247372A>CCA537540254LRP2c.2908+6T>G (n.2908+6T>G)
c.2497+6T>G (n.2497+6T>G)
c.619+6T>G (n.619+6T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.169247373C>TCA2661823185LRP2c.2908+5G>A (n.2908+5G>A)
c.2497+5G>A (n.2497+5G>A)
c.619+5G>A (n.619+5G>A)
 gnomAD v4
2g.169247375C>TCA2661823186LRP2c.2908+3G>A (n.2908+3G>A)
c.2497+3G>A (n.2497+3G>A)
c.619+3G>A (n.619+3G>A)
 gnomAD v4
2g.169247376A>CCA349153872LRP2c.2908+2T>G (n.2908+2T>G)
c.2497+2T>G (n.2497+2T>G)
c.619+2T>G (n.619+2T>G)
2g.169247376A>GCA349153874LRP2c.2908+2T>C (n.2908+2T>C)
c.2497+2T>C (n.2497+2T>C)
c.619+2T>C (n.619+2T>C)
2g.169247376A>TCA349153876LRP2c.2908+2T>A (n.2908+2T>A)
c.2497+2T>A (n.2497+2T>A)
c.619+2T>A (n.619+2T>A)
2g.169247377C>ACA349153878LRP2c.2908+1G>T (n.2908+1G>T)
c.2497+1G>T (n.2497+1G>T)
c.619+1G>T (n.619+1G>T)
2g.169247377C>GCA349153879LRP2c.2908+1G>C (n.2908+1G>C)
c.2497+1G>C (n.2497+1G>C)
c.619+1G>C (n.619+1G>C)
2g.169247377C>TCA349153880LRP2c.2908+1G>A (n.2908+1G>A)
c.2497+1G>A (n.2497+1G>A)
c.619+1G>A (n.619+1G>A)
2g.169247378C>ACA349153882LRP2c.2908G>T (p.Gly970Cys)
c.2497G>T (p.Gly833Cys)
c.619G>T (p.Gly207Cys)
2g.169247378C=CA1306349646LRP2c.2908G= (p.Gly970=)
c.2497G= (p.Gly833=)
c.619G= (p.Gly207=)
2g.169247378C>GCA349153883LRP2c.2908G>C (p.Gly970Arg)
c.2497G>C (p.Gly833Arg)
c.619G>C (p.Gly207Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.169247378C>TCA349153885LRP2c.2908G>A (p.Gly970Ser)
c.2497G>A (p.Gly833Ser)
c.619G>A (p.Gly207Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.169247379A=CA1306349647LRP2c.2907T= (p.Thr969=)
c.2496T= (p.Thr832=)
c.618T= (p.Thr206=)
2g.169247379A>CCA1955184LRP2c.2907T>G (p.Thr969=)
c.2496T>G (p.Thr832=)
c.618T>G (p.Thr206=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169247379A>GCA429920225LRP2c.2907T>C (p.Thr969=)
c.2496T>C (p.Thr832=)
c.618T>C (p.Thr206=)
 gnomAD v4
2g.169247379A>TCA429920226LRP2c.2907T>A (p.Thr969=)
c.2496T>A (p.Thr832=)
c.618T>A (p.Thr206=)
2g.169247380G>ACA349153892LRP2c.2906C>T (p.Thr969Ile)
c.2495C>T (p.Thr832Ile)
c.617C>T (p.Thr206Ile)
2g.169247380G>CCA349153888LRP2c.2906C>G (p.Thr969Ser)
c.2495C>G (p.Thr832Ser)
c.617C>G (p.Thr206Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.169247380G=CA1306349648LRP2c.2906C= (p.Thr969=)
c.2495C= (p.Thr832=)
c.617C= (p.Thr206=)
2g.169247380G>TCA349153890LRP2c.2906C>A (p.Thr969Asn)
c.2495C>A (p.Thr832Asn)
c.617C>A (p.Thr206Asn)
 gnomAD v4
2g.169247381T>ACA349153898LRP2c.2905A>T (p.Thr969Ser)
c.2494A>T (p.Thr832Ser)
c.616A>T (p.Thr206Ser)
2g.169247381T>CCA349153899LRP2c.2905A>G (p.Thr969Ala)
c.2494A>G (p.Thr832Ala)
c.616A>G (p.Thr206Ala)
 dbSNP
2g.169247381T>GCA349153901LRP2c.2905A>C (p.Thr969Pro)
c.2494A>C (p.Thr832Pro)
c.616A>C (p.Thr206Pro)
2g.169247381T=CA1306349649LRP2c.2905A= (p.Thr969=)
c.2494A= (p.Thr832=)
c.616A= (p.Thr206=)
2g.169247382C>ACA349153903LRP2c.2904G>T (p.Gln968His)
c.2493G>T (p.Gln831His)
c.615G>T (p.Gln205His)
 dbSNP
2g.169247382C=CA1306349650LRP2c.2904G= (p.Gln968=)
c.2493G= (p.Gln831=)
c.615G= (p.Gln205=)
2g.169247382C>GCA349153909LRP2c.2904G>C (p.Gln968His)
c.2493G>C (p.Gln831His)
c.615G>C (p.Gln205His)
2g.169247382C>TCA1955185LRP2c.2904G>A (p.Gln968=)
c.2493G>A (p.Gln831=)
c.615G>A (p.Gln205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.169247383T>ACA349153913LRP2c.2903A>T (p.Gln968Leu)
c.2492A>T (p.Gln831Leu)
c.614A>T (p.Gln205Leu)
2g.169247383T>CCA349153914LRP2c.2903A>G (p.Gln968Arg)
c.2492A>G (p.Gln831Arg)
c.614A>G (p.Gln205Arg)
2g.169247383T>GCA349153916LRP2c.2903A>C (p.Gln968Pro)
c.2492A>C (p.Gln831Pro)
c.614A>C (p.Gln205Pro)
2g.169247384G>ACA349153917LRP2c.2902C>T (p.Gln968Ter)
c.2491C>T (p.Gln831Ter)
c.613C>T (p.Gln205Ter)
2g.169247384G>CCA349153918LRP2c.2902C>G (p.Gln968Glu)
c.2491C>G (p.Gln831Glu)
c.613C>G (p.Gln205Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.169247384G=CA1306349651LRP2c.2902C= (p.Gln968=)
c.2491C= (p.Gln831=)
c.613C= (p.Gln205=)
2g.169247384G>TCA349153920LRP2c.2902C>A (p.Gln968Lys)
c.2491C>A (p.Gln831Lys)
c.613C>A (p.Gln205Lys)
2g.169247385G>ACA1955186LRP2c.2901C>T (p.Ile967=)
c.2490C>T (p.Ile830=)
c.612C>T (p.Ile204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.169247385G>CCA349153922LRP2c.2901C>G (p.Ile967Met)
c.2490C>G (p.Ile830Met)
c.612C>G (p.Ile204Met)
2g.169247385G=CA1306349652LRP2c.2901C= (p.Ile967=)
c.2490C= (p.Ile830=)
c.612C= (p.Ile204=)
2g.169247385G>TCA429920230LRP2c.2901C>A (p.Ile967=)
c.2490C>A (p.Ile830=)
c.612C>A (p.Ile204=)
 gnomAD v4 COSMIC
2g.169247386A>CCA349153925LRP2c.2900T>G (p.Ile967Ser)
c.2489T>G (p.Ile830Ser)
c.611T>G (p.Ile204Ser)
2g.169247386A>GCA349153926LRP2c.2900T>C (p.Ile967Thr)
c.2489T>C (p.Ile830Thr)
c.611T>C (p.Ile204Thr)
 gnomAD v4
2g.169247386A>TCA349153928LRP2c.2900T>A (p.Ile967Asn)
c.2489T>A (p.Ile830Asn)
c.611T>A (p.Ile204Asn)
2g.169247387T>ACA349153931LRP2c.2899A>T (p.Ile967Phe)
c.2488A>T (p.Ile830Phe)
c.610A>T (p.Ile204Phe)
2g.169247387T>CCA349153933LRP2c.2899A>G (p.Ile967Val)
c.2488A>G (p.Ile830Val)
c.610A>G (p.Ile204Val)
2g.169247387T>GCA349153935LRP2c.2899A>C (p.Ile967Leu)
c.2488A>C (p.Ile830Leu)
c.610A>C (p.Ile204Leu)
2g.169247388G>ACA429920232LRP2c.2898C>T (p.Asn966=)
c.2487C>T (p.Asn829=)
c.609C>T (p.Asn203=)
 ClinVar gnomAD v4
2g.169247388G>CCA349153939LRP2c.2898C>G (p.Asn966Lys)
c.2487C>G (p.Asn829Lys)
c.609C>G (p.Asn203Lys)
2g.169247388G=CA1306349653LRP2c.2898C= (p.Asn966=)
c.2487C= (p.Asn829=)
c.609C= (p.Asn203=)
2g.169247388G>TCA349153937LRP2c.2898C>A (p.Asn966Lys)
c.2487C>A (p.Asn829Lys)
c.609C>A (p.Asn203Lys)
 dbSNP
2g.169247389T>ACA349153941LRP2c.2897A>T (p.Asn966Ile)
c.2486A>T (p.Asn829Ile)
c.608A>T (p.Asn203Ile)
 dbSNP
2g.169247389T>CCA1955187LRP2c.2897A>G (p.Asn966Ser)
c.2486A>G (p.Asn829Ser)
c.608A>G (p.Asn203Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169247389T>GCA349153945LRP2c.2897A>C (p.Asn966Thr)
c.2486A>C (p.Asn829Thr)
c.608A>C (p.Asn203Thr)
2g.169247389T=CA1306349654LRP2c.2897A= (p.Asn966=)
c.2486A= (p.Asn829=)
c.608A= (p.Asn203=)
2g.169247390T>ACA349153947LRP2c.2896A>T (p.Asn966Tyr)
c.2485A>T (p.Asn829Tyr)
c.607A>T (p.Asn203Tyr)
2g.169247390T>CCA349153949LRP2c.2896A>G (p.Asn966Asp)
c.2485A>G (p.Asn829Asp)
c.607A>G (p.Asn203Asp)
2g.169247390T>GCA349153951LRP2c.2896A>C (p.Asn966His)
c.2485A>C (p.Asn829His)
c.607A>C (p.Asn203His)
2g.169247391G>ACA429920233LRP2c.2895C>T (p.Val965=)
c.2484C>T (p.Val828=)
c.606C>T (p.Val202=)
2g.169247391G>CCA429920234LRP2c.2895C>G (p.Val965=)
c.2484C>G (p.Val828=)
c.606C>G (p.Val202=)
2g.169247391G>TCA429920235LRP2c.2895C>A (p.Val965=)
c.2484C>A (p.Val828=)
c.606C>A (p.Val202=)
2g.169247392A=CA1306349655LRP2c.2894T= (p.Val965=)
c.2483T= (p.Val828=)
c.605T= (p.Val202=)
2g.169247392A>CCA349153953LRP2c.2894T>G (p.Val965Gly)
c.2483T>G (p.Val828Gly)
c.605T>G (p.Val202Gly)
2g.169247392A>GCA349153958LRP2c.2894T>C (p.Val965Ala)
c.2483T>C (p.Val828Ala)
c.605T>C (p.Val202Ala)
 dbSNP gnomAD v4
2g.169247392A>TCA349153956LRP2c.2894T>A (p.Val965Asp)
c.2483T>A (p.Val828Asp)
c.605T>A (p.Val202Asp)
2g.169247392dupCA2573134044LRP2c.2894dup (p.Asn966GlnfsTer7)
c.2483dup (p.Asn829GlnfsTer7)
c.605dup (p.Asn203GlnfsTer7)
 ClinVar dbSNP
2g.169247393C>ACA349153960LRP2c.2893G>T (p.Val965Phe)
c.2482G>T (p.Val828Phe)
c.604G>T (p.Val202Phe)
2g.169247393C=CA1306349656LRP2c.2893G= (p.Val965=)
c.2482G= (p.Val828=)
c.604G= (p.Val202=)
2g.169247393C>GCA349153962LRP2c.2893G>C (p.Val965Leu)
c.2482G>C (p.Val828Leu)
c.604G>C (p.Val202Leu)
2g.169247393C>TCA349153964LRP2c.2893G>A (p.Val965Ile)
c.2482G>A (p.Val828Ile)
c.604G>A (p.Val202Ile)
 dbSNP gnomAD v4
2g.169247394A>CCA349153966LRP2c.2892T>G (p.Asp964Glu)
c.2481T>G (p.Asp827Glu)
c.603T>G (p.Asp201Glu)
2g.169247394A>GCA429920238LRP2c.2892T>C (p.Asp964=)
c.2481T>C (p.Asp827=)
c.603T>C (p.Asp201=)
2g.169247394A>TCA349153967LRP2c.2892T>A (p.Asp964Glu)
c.2481T>A (p.Asp827Glu)
c.603T>A (p.Asp201Glu)
2g.169247395T>ACA349153969LRP2c.2891A>T (p.Asp964Val)
c.2480A>T (p.Asp827Val)
c.602A>T (p.Asp201Val)
2g.169247395T>CCA349153971LRP2c.2891A>G (p.Asp964Gly)
c.2480A>G (p.Asp827Gly)
c.602A>G (p.Asp201Gly)
2g.169247395T>GCA349153972LRP2c.2891A>C (p.Asp964Ala)
c.2480A>C (p.Asp827Ala)
c.602A>C (p.Asp201Ala)
2g.169247396C>ACA349153976LRP2c.2890G>T (p.Asp964Tyr)
c.2479G>T (p.Asp827Tyr)
c.601G>T (p.Asp201Tyr)
2g.169247396C>GCA349153978LRP2c.2890G>C (p.Asp964His)
c.2479G>C (p.Asp827His)
c.601G>C (p.Asp201His)
2g.169247396C>TCA349153979LRP2c.2890G>A (p.Asp964Asn)
c.2479G>A (p.Asp827Asn)
c.601G>A (p.Asp201Asn)
2g.169247397A=CA1306349657LRP2c.2889T= (p.Tyr963=)
c.2478T= (p.Tyr826=)
c.600T= (p.Tyr200=)
2g.169247397A>CCA349153984LRP2c.2889T>G (p.Tyr963Ter)
c.2478T>G (p.Tyr826Ter)
c.600T>G (p.Tyr200Ter)
2g.169247397A>GCA1955188LRP2c.2889T>C (p.Tyr963=)
c.2478T>C (p.Tyr826=)
c.600T>C (p.Tyr200=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.169247397A>TCA349153981LRP2c.2889T>A (p.Tyr963Ter)
c.2478T>A (p.Tyr826Ter)
c.600T>A (p.Tyr200Ter)
2g.169247398T>ACA349153987LRP2c.2888A>T (p.Tyr963Phe)
c.2477A>T (p.Tyr826Phe)
c.599A>T (p.Tyr200Phe)
2g.169247398T>CCA1955189LRP2c.2888A>G (p.Tyr963Cys)
c.2477A>G (p.Tyr826Cys)
c.599A>G (p.Tyr200Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169247398T>GCA349153991LRP2c.2888A>C (p.Tyr963Ser)
c.2477A>C (p.Tyr826Ser)
c.599A>C (p.Tyr200Ser)
2g.169247398T=CA1306349658LRP2c.2888A= (p.Tyr963=)
c.2477A= (p.Tyr826=)
c.599A= (p.Tyr200=)
2g.169247399A>CCA349153993LRP2c.2887T>G (p.Tyr963Asp)
c.2476T>G (p.Tyr826Asp)
c.598T>G (p.Tyr200Asp)
2g.169247399A>GCA349153995LRP2c.2887T>C (p.Tyr963His)
c.2476T>C (p.Tyr826His)
c.598T>C (p.Tyr200His)
2g.169247399A>TCA349153997LRP2c.2887T>A (p.Tyr963Asn)
c.2476T>A (p.Tyr826Asn)
c.598T>A (p.Tyr200Asn)
2g.169247400C>ACA429920242LRP2c.2886G>T (p.Ser962=)
c.2475G>T (p.Ser825=)
c.597G>T (p.Ser199=)
2g.169247400C=CA1306349659LRP2c.2886G= (p.Ser962=)
c.2475G= (p.Ser825=)
c.597G= (p.Ser199=)
2g.169247400C>GCA1955191LRP2c.2886G>C (p.Ser962=)
c.2475G>C (p.Ser825=)
c.597G>C (p.Ser199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169247400C>TCA1955190LRP2c.2886G>A (p.Ser962=)
c.2475G>A (p.Ser825=)
c.597G>A (p.Ser199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.169247401G>ACA1955192LRP2c.2885C>T (p.Ser962Leu)
c.2474C>T (p.Ser825Leu)
c.596C>T (p.Ser199Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.169247401G>CCA349154002LRP2c.2885C>G (p.Ser962Trp)
c.2474C>G (p.Ser825Trp)
c.596C>G (p.Ser199Trp)
2g.169247401G=CA1306349660LRP2c.2885C= (p.Ser962=)
c.2474C= (p.Ser825=)
c.596C= (p.Ser199=)
2g.169247401G>TCA349154003LRP2c.2885C>A (p.Ser962Ter)
c.2474C>A (p.Ser825Ter)
c.596C>A (p.Ser199Ter)
2g.169247402A>CCA349154004LRP2c.2884T>G (p.Ser962Ala)
c.2473T>G (p.Ser825Ala)
c.595T>G (p.Ser199Ala)
2g.169247402A>GCA349154006LRP2c.2884T>C (p.Ser962Pro)
c.2473T>C (p.Ser825Pro)
c.595T>C (p.Ser199Pro)
2g.169247402A>TCA349154008LRP2c.2884T>A (p.Ser962Thr)
c.2473T>A (p.Ser825Thr)
c.595T>A (p.Ser199Thr)
2g.169247403T>ACA349154011LRP2c.2883A>T (p.Lys961Asn)
c.2472A>T (p.Lys824Asn)
c.594A>T (p.Lys198Asn)
2g.169247403T>CCA429920244LRP2c.2883A>G (p.Lys961=)
c.2472A>G (p.Lys824=)
c.594A>G (p.Lys198=)
2g.169247403T>GCA349154010LRP2c.2883A>C (p.Lys961Asn)
c.2472A>C (p.Lys824Asn)
c.594A>C (p.Lys198Asn)
2g.169247404T>ACA349154013LRP2c.2882A>T (p.Lys961Ile)
c.2471A>T (p.Lys824Ile)
c.593A>T (p.Lys198Ile)
2g.169247404T>CCA349154018LRP2c.2882A>G (p.Lys961Arg)
c.2471A>G (p.Lys824Arg)
c.593A>G (p.Lys198Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.169247404T>GCA349154020LRP2c.2882A>C (p.Lys961Thr)
c.2471A>C (p.Lys824Thr)
c.593A>C (p.Lys198Thr)
2g.169247404T=CA1306349661LRP2c.2882A= (p.Lys961=)
c.2471A= (p.Lys824=)
c.593A= (p.Lys198=)

Number of alleles fetched