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 |
|---|---|---|---|---|---|
| 15 | g.89206897_89214258del | CA645509196 | ClinVar | ||
| 15 | g.89211647_89211685del | CA2630242479 | RLBP1 | c.684+61_684+99del (n.684+61_684+99del) c.101+61_101+99del c.*262+61_*262+99del (n.*262+61_*262+99del) c.609+61_609+99del (n.609+61_609+99del) c.711+61_711+99del (n.711+61_711+99del) | gnomAD v4 |
| 15 | g.89211658C>A | CA2630242508 | RLBP1 | c.684+85G>T (n.684+85G>T) c.101+85G>T c.*262+85G>T (n.*262+85G>T) c.609+85G>T (n.609+85G>T) c.711+85G>T (n.711+85G>T) | gnomAD v4 |
| 15 | g.89211658C>T | CA2575831866 | RLBP1 | c.684+85G>A (n.684+85G>A) c.101+85G>A c.*262+85G>A (n.*262+85G>A) c.609+85G>A (n.609+85G>A) c.711+85G>A (n.711+85G>A) | gnomAD v4 |
| 15 | g.89211659C>T | CA2630242509 | RLBP1 | c.684+84G>A (n.684+84G>A) c.101+84G>A c.*262+84G>A (n.*262+84G>A) c.609+84G>A (n.609+84G>A) c.711+84G>A (n.711+84G>A) | gnomAD v4 |
| 15 | g.89211660C>A | CA2630242510 | RLBP1 | c.684+83G>T (n.684+83G>T) c.101+83G>T c.*262+83G>T (n.*262+83G>T) c.609+83G>T (n.609+83G>T) c.711+83G>T (n.711+83G>T) | gnomAD v4 |
| 15 | g.89211661T>A | CA2630242511 | RLBP1 | c.684+82A>T (n.684+82A>T) c.101+82A>T c.*262+82A>T (n.*262+82A>T) c.609+82A>T (n.609+82A>T) c.711+82A>T (n.711+82A>T) | gnomAD v4 |
| 15 | g.89211661T>C | CA2630242512 | RLBP1 | c.684+82A>G (n.684+82A>G) c.101+82A>G c.*262+82A>G (n.*262+82A>G) c.609+82A>G (n.609+82A>G) c.711+82A>G (n.711+82A>G) | gnomAD v4 |
| 15 | g.89211662G>A | CA2630242513 | RLBP1 | c.684+81C>T (n.684+81C>T) c.101+81C>T c.*262+81C>T (n.*262+81C>T) c.609+81C>T (n.609+81C>T) c.711+81C>T (n.711+81C>T) | gnomAD v4 |
| 15 | g.89211662G>T | CA2575831867 | RLBP1 | c.684+81C>A (n.684+81C>A) c.101+81C>A c.*262+81C>A (n.*262+81C>A) c.609+81C>A (n.609+81C>A) c.711+81C>A (n.711+81C>A) | gnomAD v4 |
| 15 | g.89211663del | CA2630242515 | RLBP1 | c.684+80del (n.684+80del) c.101+80del c.*262+80del (n.*262+80del) c.609+80del (n.609+80del) c.711+80del (n.711+80del) | gnomAD v4 |
| 15 | g.89211663C>A | CA2575831868 | RLBP1 | c.684+80G>T (n.684+80G>T) c.101+80G>T c.*262+80G>T (n.*262+80G>T) c.609+80G>T (n.609+80G>T) c.711+80G>T (n.711+80G>T) | gnomAD v4 |
| 15 | g.89211666G>A | CA2630242517 | RLBP1 | c.684+77C>T (n.684+77C>T) c.101+77C>T c.*262+77C>T (n.*262+77C>T) c.609+77C>T (n.609+77C>T) c.711+77C>T (n.711+77C>T) | gnomAD v4 |
| 15 | g.89211666G>T | CA2630242518 | RLBP1 | c.684+77C>A (n.684+77C>A) c.101+77C>A c.*262+77C>A (n.*262+77C>A) c.609+77C>A (n.609+77C>A) c.711+77C>A (n.711+77C>A) | gnomAD v4 |
| 15 | g.89211667C>A | CA2630242519 | RLBP1 | c.684+76G>T (n.684+76G>T) c.101+76G>T c.*262+76G>T (n.*262+76G>T) c.609+76G>T (n.609+76G>T) c.711+76G>T (n.711+76G>T) | gnomAD v4 |
| 15 | g.89211667C>T | CA2630242520 | RLBP1 | c.684+76G>A (n.684+76G>A) c.101+76G>A c.*262+76G>A (n.*262+76G>A) c.609+76G>A (n.609+76G>A) c.711+76G>A (n.711+76G>A) | gnomAD v4 |
| 15 | g.89211667_89211668insCC | CA2575831869 | RLBP1 | c.684+76_684+77insGG (n.684+76_684+77insGG) c.101+76_101+77insGG c.*262+76_*262+77insGG (n.*262+76_*262+77insGG) c.609+76_609+77insGG (n.609+76_609+77insGG) c.711+76_711+77insGG (n.711+76_711+77insGG) | gnomAD v4 |
| 15 | g.89211668A>C | CA2575831872 | RLBP1 | c.684+75T>G (n.684+75T>G) c.101+75T>G c.*262+75T>G (n.*262+75T>G) c.609+75T>G (n.609+75T>G) c.711+75T>G (n.711+75T>G) | gnomAD v4 |
| 15 | g.89211668A>G | CA2575831871 | RLBP1 | c.684+75T>C (n.684+75T>C) c.101+75T>C c.*262+75T>C (n.*262+75T>C) c.609+75T>C (n.609+75T>C) c.711+75T>C (n.711+75T>C) | |
| 15 | g.89211668A>T | CA2575831870 | RLBP1 | c.684+75T>A (n.684+75T>A) c.101+75T>A c.*262+75T>A (n.*262+75T>A) c.609+75T>A (n.609+75T>A) c.711+75T>A (n.711+75T>A) | |
| 15 | g.89211668_89211669delinsAC | CA2194510008 | RLBP1 | c.684+74_684+75delinsGT (n.684+74_684+75delinsGT) c.101+74_101+75delinsGT c.*262+74_*262+75delinsGT (n.*262+74_*262+75delinsGT) c.609+74_609+75delinsGT (n.609+74_609+75delinsGT) c.711+74_711+75delinsGT (n.711+74_711+75delinsGT) | |
| 15 | g.89211669C>A | CA2805163803 | RLBP1 | c.684+74G>T (n.684+74G>T) c.101+74G>T c.*262+74G>T (n.*262+74G>T) c.609+74G>T (n.609+74G>T) c.711+74G>T (n.711+74G>T) | |
| 15 | g.89211669C>T | CA2630242522 | RLBP1 | c.684+74G>A (n.684+74G>A) c.101+74G>A c.*262+74G>A (n.*262+74G>A) c.609+74G>A (n.609+74G>A) c.711+74G>A (n.711+74G>A) | gnomAD v4 |
| 15 | g.89211670del | CA919613970 | RLBP1 | c.684+74del (n.684+74del) c.101+74del c.*262+74del (n.*262+74del) c.609+74del (n.609+74del) c.711+74del (n.711+74del) | dbSNP gnomAD v4 |
| 15 | g.89211671A= | CA2194510012 | RLBP1 | c.684+72T= (n.684+72T=) c.101+72T= c.*262+72T= (n.*262+72T=) c.609+72T= (n.609+72T=) c.711+72T= (n.711+72T=) | |
| 15 | g.89211671A>G | CA274532513 | RLBP1 | c.684+72T>C (n.684+72T>C) c.101+72T>C c.*262+72T>C (n.*262+72T>C) c.609+72T>C (n.609+72T>C) c.711+72T>C (n.711+72T>C) | dbSNP |
| 15 | g.89211672T>A | CA2194510015 | RLBP1 | c.684+71A>T (n.684+71A>T) c.101+71A>T c.*262+71A>T (n.*262+71A>T) c.609+71A>T (n.609+71A>T) c.711+71A>T (n.711+71A>T) | dbSNP |
| 15 | g.89211672T>C | CA716899138 | RLBP1 | c.684+71A>G (n.684+71A>G) c.101+71A>G c.*262+71A>G (n.*262+71A>G) c.609+71A>G (n.609+71A>G) c.711+71A>G (n.711+71A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211672T>G | CA2575831873 | RLBP1 | c.684+71A>C (n.684+71A>C) c.101+71A>C c.*262+71A>C (n.*262+71A>C) c.609+71A>C (n.609+71A>C) c.711+71A>C (n.711+71A>C) | |
| 15 | g.89211672T= | CA2194510014 | RLBP1 | c.684+71A= (n.684+71A=) c.101+71A= c.*262+71A= (n.*262+71A=) c.609+71A= (n.609+71A=) c.711+71A= (n.711+71A=) | |
| 15 | g.89211673G>T | CA2630242524 | RLBP1 | c.684+70C>A (n.684+70C>A) c.101+70C>A c.*262+70C>A (n.*262+70C>A) c.609+70C>A (n.609+70C>A) c.711+70C>A (n.711+70C>A) | gnomAD v4 |
| 15 | g.89211676A= | CA2194510018 | RLBP1 | c.684+67T= (n.684+67T=) c.101+67T= c.*262+67T= (n.*262+67T=) c.609+67T= (n.609+67T=) c.711+67T= (n.711+67T=) | |
| 15 | g.89211676A>C | CA274532517 | RLBP1 | c.684+67T>G (n.684+67T>G) c.101+67T>G c.*262+67T>G (n.*262+67T>G) c.609+67T>G (n.609+67T>G) c.711+67T>G (n.711+67T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211677G>C | CA2805163804 | RLBP1 | c.684+66C>G (n.684+66C>G) c.101+66C>G c.*262+66C>G (n.*262+66C>G) c.609+66C>G (n.609+66C>G) c.711+66C>G (n.711+66C>G) | |
| 15 | g.89211678G>A | CA2630242526 | RLBP1 | c.684+65C>T (n.684+65C>T) c.101+65C>T c.*262+65C>T (n.*262+65C>T) c.609+65C>T (n.609+65C>T) c.711+65C>T (n.711+65C>T) | gnomAD v4 |
| 15 | g.89211678G>C | CA2630242527 | RLBP1 | c.684+65C>G (n.684+65C>G) c.101+65C>G c.*262+65C>G (n.*262+65C>G) c.609+65C>G (n.609+65C>G) c.711+65C>G (n.711+65C>G) | gnomAD v4 |
| 15 | g.89211679A>G | CA2630242528 | RLBP1 | c.684+64T>C (n.684+64T>C) c.101+64T>C c.*262+64T>C (n.*262+64T>C) c.609+64T>C (n.609+64T>C) c.711+64T>C (n.711+64T>C) | gnomAD v4 |
| 15 | g.89211680G>T | CA2630242529 | RLBP1 | c.684+63C>A (n.684+63C>A) c.101+63C>A c.*262+63C>A (n.*262+63C>A) c.609+63C>A (n.609+63C>A) c.711+63C>A (n.711+63C>A) | gnomAD v4 |
| 15 | g.89211681G>T | CA2630242530 | RLBP1 | c.684+62C>A (n.684+62C>A) c.101+62C>A c.*262+62C>A (n.*262+62C>A) c.609+62C>A (n.609+62C>A) c.711+62C>A (n.711+62C>A) | gnomAD v4 |
| 15 | g.89211682C>T | CA2630242531 | RLBP1 | c.684+61G>A (n.684+61G>A) c.101+61G>A c.*262+61G>A (n.*262+61G>A) c.609+61G>A (n.609+61G>A) c.711+61G>A (n.711+61G>A) | gnomAD v4 |
| 15 | g.89211688_89211704del | CA2805163805 | RLBP1 | c.684+45_684+61del (n.684+45_684+61del) c.101+45_101+61del c.*262+45_*262+61del (n.*262+45_*262+61del) c.609+45_609+61del (n.609+45_609+61del) c.711+45_711+61del (n.711+45_711+61del) | |
| 15 | g.89211683C>T | CA2630242532 | RLBP1 | c.684+60G>A (n.684+60G>A) c.101+60G>A c.*262+60G>A (n.*262+60G>A) c.609+60G>A (n.609+60G>A) c.711+60G>A (n.711+60G>A) | gnomAD v4 |
| 15 | g.89211684C>T | CA2630242533 | RLBP1 | c.684+59G>A (n.684+59G>A) c.101+59G>A c.*262+59G>A (n.*262+59G>A) c.609+59G>A (n.609+59G>A) c.711+59G>A (n.711+59G>A) | gnomAD v4 |
| 15 | g.89211686G>T | CA2630242535 | RLBP1 | c.684+57C>A (n.684+57C>A) c.101+57C>A c.*262+57C>A (n.*262+57C>A) c.609+57C>A (n.609+57C>A) c.711+57C>A (n.711+57C>A) | gnomAD v4 |
| 15 | g.89211687C>A | CA274532536 | RLBP1 | c.684+56G>T (n.684+56G>T) c.101+56G>T c.*262+56G>T (n.*262+56G>T) c.609+56G>T (n.609+56G>T) c.711+56G>T (n.711+56G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211687C= | CA2194510019 | RLBP1 | c.684+56G= (n.684+56G=) c.101+56G= c.*262+56G= (n.*262+56G=) c.609+56G= (n.609+56G=) c.711+56G= (n.711+56G=) | |
| 15 | g.89211687_89211689delinsCCT | CA2194510020 | RLBP1 | c.684+54_684+56delinsAGG (n.684+54_684+56delinsAGG) c.101+54_101+56delinsAGG c.*262+54_*262+56delinsAGG (n.*262+54_*262+56delinsAGG) c.609+54_609+56delinsAGG (n.609+54_609+56delinsAGG) c.711+54_711+56delinsAGG (n.711+54_711+56delinsAGG) | |
| 15 | g.89211688C>G | CA2630242537 | RLBP1 | c.684+55G>C (n.684+55G>C) c.101+55G>C c.*262+55G>C (n.*262+55G>C) c.609+55G>C (n.609+55G>C) c.711+55G>C (n.711+55G>C) | gnomAD v4 |
| 15 | g.89211688C>T | CA2630242536 | RLBP1 | c.684+55G>A (n.684+55G>A) c.101+55G>A c.*262+55G>A (n.*262+55G>A) c.609+55G>A (n.609+55G>A) c.711+55G>A (n.711+55G>A) | gnomAD v4 |
| 15 | g.89211691_89211692del | CA274532537 | RLBP1 | c.684+54_684+55del (n.684+54_684+55del) c.101+54_101+55del c.*262+54_*262+55del (n.*262+54_*262+55del) c.609+54_609+55del (n.609+54_609+55del) c.711+54_711+55del (n.711+54_711+55del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211690C= | CA2194510022 | RLBP1 | c.684+53G= (n.684+53G=) c.101+53G= c.*262+53G= (n.*262+53G=) c.609+53G= (n.609+53G=) c.711+53G= (n.711+53G=) | |
| 15 | g.89211690C>T | CA2194510024 | RLBP1 | c.684+53G>A (n.684+53G>A) c.101+53G>A c.*262+53G>A (n.*262+53G>A) c.609+53G>A (n.609+53G>A) c.711+53G>A (n.711+53G>A) | dbSNP gnomAD v4 |
| 15 | g.89211691T>G | CA2575831874 | RLBP1 | c.684+52A>C (n.684+52A>C) c.101+52A>C c.*262+52A>C (n.*262+52A>C) c.609+52A>C (n.609+52A>C) c.711+52A>C (n.711+52A>C) | |
| 15 | g.89211692C>A | CA2630242538 | RLBP1 | c.684+51G>T (n.684+51G>T) c.101+51G>T c.*262+51G>T (n.*262+51G>T) c.609+51G>T (n.609+51G>T) c.711+51G>T (n.711+51G>T) | gnomAD v4 |
| 15 | g.89211692C= | CA2194510027 | RLBP1 | c.684+51G= (n.684+51G=) c.101+51G= c.*262+51G= (n.*262+51G=) c.609+51G= (n.609+51G=) c.711+51G= (n.711+51G=) | |
| 15 | g.89211692C>G | CA2630242539 | RLBP1 | c.684+51G>C (n.684+51G>C) c.101+51G>C c.*262+51G>C (n.*262+51G>C) c.609+51G>C (n.609+51G>C) c.711+51G>C (n.711+51G>C) | gnomAD v4 |
| 15 | g.89211692C>T | CA7722217 | RLBP1 | c.684+51G>A (n.684+51G>A) c.101+51G>A c.*262+51G>A (n.*262+51G>A) c.609+51G>A (n.609+51G>A) c.711+51G>A (n.711+51G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89211693A>T | CA2630242540 | RLBP1 | c.684+50T>A (n.684+50T>A) c.101+50T>A c.*262+50T>A (n.*262+50T>A) c.609+50T>A (n.609+50T>A) c.711+50T>A (n.711+50T>A) | gnomAD v4 |
| 15 | g.89211694G>A | CA2630242541 | RLBP1 | c.684+49C>T (n.684+49C>T) c.101+49C>T c.*262+49C>T (n.*262+49C>T) c.609+49C>T (n.609+49C>T) c.711+49C>T (n.711+49C>T) | gnomAD v4 |
| 15 | g.89211694G>T | CA2630242542 | RLBP1 | c.684+49C>A (n.684+49C>A) c.101+49C>A c.*262+49C>A (n.*262+49C>A) c.609+49C>A (n.609+49C>A) c.711+49C>A (n.711+49C>A) | gnomAD v4 |
| 15 | g.89211695C>A | CA2194510035 | RLBP1 | c.684+48G>T (n.684+48G>T) c.101+48G>T c.*262+48G>T (n.*262+48G>T) c.609+48G>T (n.609+48G>T) c.711+48G>T (n.711+48G>T) | dbSNP |
| 15 | g.89211695C= | CA2194510033 | RLBP1 | c.684+48G= (n.684+48G=) c.101+48G= c.*262+48G= (n.*262+48G=) c.609+48G= (n.609+48G=) c.711+48G= (n.711+48G=) | |
| 15 | g.89211696C= | CA2194510041 | RLBP1 | c.684+47G= (n.684+47G=) c.101+47G= c.*262+47G= (n.*262+47G=) c.609+47G= (n.609+47G=) c.711+47G= (n.711+47G=) | |
| 15 | g.89211696C>T | CA619857177 | RLBP1 | c.684+47G>A (n.684+47G>A) c.101+47G>A c.*262+47G>A (n.*262+47G>A) c.609+47G>A (n.609+47G>A) c.711+47G>A (n.711+47G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211697T>C | CA2630242543 | RLBP1 | c.684+46A>G (n.684+46A>G) c.101+46A>G c.*262+46A>G (n.*262+46A>G) c.609+46A>G (n.609+46A>G) c.711+46A>G (n.711+46A>G) | gnomAD v4 |
| 15 | g.89211701del | CA2630242544 | RLBP1 | c.684+45del (n.684+45del) c.101+45del c.*262+45del (n.*262+45del) c.609+45del (n.609+45del) c.711+45del (n.711+45del) | gnomAD v4 |
| 15 | g.89211700_89211701del | CA2630242545 | RLBP1 | c.684+44_684+45del (n.684+44_684+45del) c.101+44_101+45del c.*262+44_*262+45del (n.*262+44_*262+45del) c.609+44_609+45del (n.609+44_609+45del) c.711+44_711+45del (n.711+44_711+45del) | gnomAD v4 |
| 15 | g.89211700C>A | CA2575831875 | RLBP1 | c.684+43G>T (n.684+43G>T) c.101+43G>T c.*262+43G>T (n.*262+43G>T) c.609+43G>T (n.609+43G>T) c.711+43G>T (n.711+43G>T) | gnomAD v4 |
| 15 | g.89211700C= | CA2194510050 | RLBP1 | c.684+43G= (n.684+43G=) c.101+43G= c.*262+43G= (n.*262+43G=) c.609+43G= (n.609+43G=) c.711+43G= (n.711+43G=) | |
| 15 | g.89211700C>G | CA2194510051 | RLBP1 | c.684+43G>C (n.684+43G>C) c.101+43G>C c.*262+43G>C (n.*262+43G>C) c.609+43G>C (n.609+43G>C) c.711+43G>C (n.711+43G>C) | dbSNP |
| 15 | g.89211700_89211701insA | CA2575831876 | RLBP1 | c.684+42_684+43insT (n.684+42_684+43insT) c.101+42_101+43insT c.*262+42_*262+43insT (n.*262+42_*262+43insT) c.609+42_609+43insT (n.609+42_609+43insT) c.711+42_711+43insT (n.711+42_711+43insT) | gnomAD v4 |
| 15 | g.89211701C>T | CA2630242546 | RLBP1 | c.684+42G>A (n.684+42G>A) c.101+42G>A c.*262+42G>A (n.*262+42G>A) c.609+42G>A (n.609+42G>A) c.711+42G>A (n.711+42G>A) | gnomAD v4 |
| 15 | g.89211702A= | CA2194510055 | RLBP1 | c.684+41T= (n.684+41T=) c.101+41T= c.*262+41T= (n.*262+41T=) c.609+41T= (n.609+41T=) c.711+41T= (n.711+41T=) | |
| 15 | g.89211702A>G | CA716899146 | RLBP1 | c.684+41T>C (n.684+41T>C) c.101+41T>C c.*262+41T>C (n.*262+41T>C) c.609+41T>C (n.609+41T>C) c.711+41T>C (n.711+41T>C) | dbSNP gnomAD v4 |
| 15 | g.89211702_89211703del | CA2630242547 | RLBP1 | c.684+40_684+41del (n.684+40_684+41del) c.101+40_101+41del c.*262+40_*262+41del (n.*262+40_*262+41del) c.609+40_609+41del (n.609+40_609+41del) c.711+40_711+41del (n.711+40_711+41del) | gnomAD v4 |
| 15 | g.89211703G>T | CA2630242548 | RLBP1 | c.684+40C>A (n.684+40C>A) c.101+40C>A c.*262+40C>A (n.*262+40C>A) c.609+40C>A (n.609+40C>A) c.711+40C>A (n.711+40C>A) | gnomAD v4 |
| 15 | g.89211704C>A | CA2630242549 | RLBP1 | c.684+39G>T (n.684+39G>T) c.101+39G>T c.*262+39G>T (n.*262+39G>T) c.609+39G>T (n.609+39G>T) c.711+39G>T (n.711+39G>T) | gnomAD v4 |
| 15 | g.89211704C>T | CA2630242550 | RLBP1 | c.684+39G>A (n.684+39G>A) c.101+39G>A c.*262+39G>A (n.*262+39G>A) c.609+39G>A (n.609+39G>A) c.711+39G>A (n.711+39G>A) | gnomAD v4 |
| 15 | g.89211705T>C | CA2630242551 | RLBP1 | c.684+38A>G (n.684+38A>G) c.101+38A>G c.*262+38A>G (n.*262+38A>G) c.609+38A>G (n.609+38A>G) c.711+38A>G (n.711+38A>G) | gnomAD v4 |
| 15 | g.89211706del | CA2575831877 | RLBP1 | c.684+37del (n.684+37del) c.101+37del c.*262+37del (n.*262+37del) c.609+37del (n.609+37del) c.711+37del (n.711+37del) | gnomAD v4 |
| 15 | g.89211706G>A | CA2630242552 | RLBP1 | c.684+37C>T (n.684+37C>T) c.101+37C>T c.*262+37C>T (n.*262+37C>T) c.609+37C>T (n.609+37C>T) c.711+37C>T (n.711+37C>T) | gnomAD v4 |
| 15 | g.89211706G>T | CA2630242553 | RLBP1 | c.684+37C>A (n.684+37C>A) c.101+37C>A c.*262+37C>A (n.*262+37C>A) c.609+37C>A (n.609+37C>A) c.711+37C>A (n.711+37C>A) | gnomAD v4 |
| 15 | g.89211707del | CA2575831878 | RLBP1 | c.684+36del (n.684+36del) c.101+36del c.*262+36del (n.*262+36del) c.609+36del (n.609+36del) c.711+36del (n.711+36del) | gnomAD v4 |
| 15 | g.89211707T>C | CA2630242555 | RLBP1 | c.684+36A>G (n.684+36A>G) c.101+36A>G c.*262+36A>G (n.*262+36A>G) c.609+36A>G (n.609+36A>G) c.711+36A>G (n.711+36A>G) | gnomAD v4 |
| 15 | g.89211707T>G | CA2630242556 | RLBP1 | c.684+36A>C (n.684+36A>C) c.101+36A>C c.*262+36A>C (n.*262+36A>C) c.609+36A>C (n.609+36A>C) c.711+36A>C (n.711+36A>C) | gnomAD v4 |
| 15 | g.89211708G>A | CA7722218 | RLBP1 | c.684+35C>T (n.684+35C>T) c.101+35C>T c.*262+35C>T (n.*262+35C>T) c.609+35C>T (n.609+35C>T) c.711+35C>T (n.711+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211708G= | CA2194510056 | RLBP1 | c.684+35C= (n.684+35C=) c.101+35C= c.*262+35C= (n.*262+35C=) c.609+35C= (n.609+35C=) c.711+35C= (n.711+35C=) | |
| 15 | g.89211708G>T | CA2630242558 | RLBP1 | c.684+35C>A (n.684+35C>A) c.101+35C>A c.*262+35C>A (n.*262+35C>A) c.609+35C>A (n.609+35C>A) c.711+35C>A (n.711+35C>A) | gnomAD v4 |
| 15 | g.89211710del | CA2630242557 | RLBP1 | c.684+35del (n.684+35del) c.101+35del c.*262+35del (n.*262+35del) c.609+35del (n.609+35del) c.711+35del (n.711+35del) | gnomAD v4 |
| 15 | g.89211709G>C | CA2630242559 | RLBP1 | c.684+34C>G (n.684+34C>G) c.101+34C>G c.*262+34C>G (n.*262+34C>G) c.609+34C>G (n.609+34C>G) c.711+34C>G (n.711+34C>G) | gnomAD v4 |
| 15 | g.89211710G>A | CA619857178 | RLBP1 | c.684+33C>T (n.684+33C>T) c.101+33C>T c.*262+33C>T (n.*262+33C>T) c.609+33C>T (n.609+33C>T) c.711+33C>T (n.711+33C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211710G= | CA2194510058 | RLBP1 | c.684+33C= (n.684+33C=) c.101+33C= c.*262+33C= (n.*262+33C=) c.609+33C= (n.609+33C=) c.711+33C= (n.711+33C=) | |
| 15 | g.89211711A>G | CA2630242560 | RLBP1 | c.684+32T>C (n.684+32T>C) c.101+32T>C c.*262+32T>C (n.*262+32T>C) c.609+32T>C (n.609+32T>C) c.711+32T>C (n.711+32T>C) | gnomAD v4 |
| 15 | g.89211712G>C | CA7722219 | RLBP1 | c.684+31C>G (n.684+31C>G) c.101+31C>G c.*262+31C>G (n.*262+31C>G) c.609+31C>G (n.609+31C>G) c.711+31C>G (n.711+31C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211712G= | CA2194510061 | RLBP1 | c.684+31C= (n.684+31C=) c.101+31C= c.*262+31C= (n.*262+31C=) c.609+31C= (n.609+31C=) c.711+31C= (n.711+31C=) | |
| 15 | g.89211713G>T | CA2630242561 | RLBP1 | c.684+30C>A (n.684+30C>A) c.101+30C>A c.*262+30C>A (n.*262+30C>A) c.609+30C>A (n.609+30C>A) c.711+30C>A (n.711+30C>A) | gnomAD v4 |
| 15 | g.89211714C>T | CA2630242562 | RLBP1 | c.684+29G>A (n.684+29G>A) c.101+29G>A c.*262+29G>A (n.*262+29G>A) c.609+29G>A (n.609+29G>A) c.711+29G>A (n.711+29G>A) | gnomAD v4 |
| 15 | g.89211715T>C | CA7722220 | RLBP1 | c.684+28A>G (n.684+28A>G) c.101+28A>G c.*262+28A>G (n.*262+28A>G) c.609+28A>G (n.609+28A>G) c.711+28A>G (n.711+28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211715T= | CA2194510063 | RLBP1 | c.684+28A= (n.684+28A=) c.101+28A= c.*262+28A= (n.*262+28A=) c.609+28A= (n.609+28A=) c.711+28A= (n.711+28A=) | |
| 15 | g.89211716G>T | CA2630242563 | RLBP1 | c.684+27C>A (n.684+27C>A) c.101+27C>A c.*262+27C>A (n.*262+27C>A) c.609+27C>A (n.609+27C>A) c.711+27C>A (n.711+27C>A) | gnomAD v4 |
| 15 | g.89211717C= | CA2194510069 | RLBP1 | c.684+26G= (n.684+26G=) c.101+26G= c.*262+26G= (n.*262+26G=) c.609+26G= (n.609+26G=) c.711+26G= (n.711+26G=) | |
| 15 | g.89211717C>G | CA274532557 | RLBP1 | c.684+26G>C (n.684+26G>C) c.101+26G>C c.*262+26G>C (n.*262+26G>C) c.609+26G>C (n.609+26G>C) c.711+26G>C (n.711+26G>C) | dbSNP |
| 15 | g.89211717C>T | CA7722221 | RLBP1 | c.684+26G>A (n.684+26G>A) c.101+26G>A c.*262+26G>A (n.*262+26G>A) c.609+26G>A (n.609+26G>A) c.711+26G>A (n.711+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211718C= | CA2194510073 | RLBP1 | c.684+25G= (n.684+25G=) c.101+25G= c.*262+25G= (n.*262+25G=) c.609+25G= (n.609+25G=) c.711+25G= (n.711+25G=) | |
| 15 | g.89211718C>T | CA7722222 | RLBP1 | c.684+25G>A (n.684+25G>A) c.101+25G>A c.*262+25G>A (n.*262+25G>A) c.609+25G>A (n.609+25G>A) c.711+25G>A (n.711+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211719G>A | CA7722224 | RLBP1 | c.684+24C>T (n.684+24C>T) c.101+24C>T c.*262+24C>T (n.*262+24C>T) c.609+24C>T (n.609+24C>T) c.711+24C>T (n.711+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211719G= | CA2194510077 | RLBP1 | c.684+24C= (n.684+24C=) c.101+24C= c.*262+24C= (n.*262+24C=) c.609+24C= (n.609+24C=) c.711+24C= (n.711+24C=) | |
| 15 | g.89211719G>T | CA7722223 | RLBP1 | c.684+24C>A (n.684+24C>A) c.101+24C>A c.*262+24C>A (n.*262+24C>A) c.609+24C>A (n.609+24C>A) c.711+24C>A (n.711+24C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211720T>C | CA2194510079 | RLBP1 | c.684+23A>G (n.684+23A>G) c.101+23A>G c.*262+23A>G (n.*262+23A>G) c.609+23A>G (n.609+23A>G) c.711+23A>G (n.711+23A>G) | dbSNP gnomAD v4 |
| 15 | g.89211720T= | CA2194510078 | RLBP1 | c.684+23A= (n.684+23A=) c.101+23A= c.*262+23A= (n.*262+23A=) c.609+23A= (n.609+23A=) c.711+23A= (n.711+23A=) | |
| 15 | g.89211720_89211721delinsTG | CA2194510081 | RLBP1 | c.684+22_684+23delinsCA (n.684+22_684+23delinsCA) c.101+22_101+23delinsCA c.*262+22_*262+23delinsCA (n.*262+22_*262+23delinsCA) c.609+22_609+23delinsCA (n.609+22_609+23delinsCA) c.711+22_711+23delinsCA (n.711+22_711+23delinsCA) | |
| 15 | g.89211721del | CA2194510085 | RLBP1 | c.684+22del (n.684+22del) c.101+22del c.*262+22del (n.*262+22del) c.609+22del (n.609+22del) c.711+22del (n.711+22del) | dbSNP |
| 15 | g.89211722C>A | CA2630242564 | RLBP1 | c.684+21G>T (n.684+21G>T) c.101+21G>T c.*262+21G>T (n.*262+21G>T) c.609+21G>T (n.609+21G>T) c.711+21G>T (n.711+21G>T) | gnomAD v4 |
| 15 | g.89211722C= | CA2194510090 | RLBP1 | c.684+21G= (n.684+21G=) c.101+21G= c.*262+21G= (n.*262+21G=) c.609+21G= (n.609+21G=) c.711+21G= (n.711+21G=) | |
| 15 | g.89211722C>T | CA7722225 | RLBP1 | c.684+21G>A (n.684+21G>A) c.101+21G>A c.*262+21G>A (n.*262+21G>A) c.609+21G>A (n.609+21G>A) c.711+21G>A (n.711+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211723G>A | CA7722226 | RLBP1 | c.684+20C>T (n.684+20C>T) c.101+20C>T c.*262+20C>T (n.*262+20C>T) c.609+20C>T (n.609+20C>T) c.711+20C>T (n.711+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211723G>C | CA2581198552 | RLBP1 | c.684+20C>G (n.684+20C>G) c.101+20C>G c.*262+20C>G (n.*262+20C>G) c.609+20C>G (n.609+20C>G) c.711+20C>G (n.711+20C>G) | |
| 15 | g.89211723G= | CA2194510095 | RLBP1 | c.684+20C= (n.684+20C=) c.101+20C= c.*262+20C= (n.*262+20C=) c.609+20C= (n.609+20C=) c.711+20C= (n.711+20C=) | |
| 15 | g.89211723G>T | CA2581198551 | RLBP1 | c.684+20C>A (n.684+20C>A) c.101+20C>A c.*262+20C>A (n.*262+20C>A) c.609+20C>A (n.609+20C>A) c.711+20C>A (n.711+20C>A) | |
| 15 | g.89211724A>G | CA2630242566 | RLBP1 | c.684+19T>C (n.684+19T>C) c.101+19T>C c.*262+19T>C (n.*262+19T>C) c.609+19T>C (n.609+19T>C) c.711+19T>C (n.711+19T>C) | gnomAD v4 |
| 15 | g.89211725C= | CA2194510098 | RLBP1 | c.684+18G= (n.684+18G=) c.101+18G= c.*262+18G= (n.*262+18G=) c.609+18G= (n.609+18G=) c.711+18G= (n.711+18G=) | |
| 15 | g.89211725C>T | CA2194510100 | RLBP1 | c.684+18G>A (n.684+18G>A) c.101+18G>A c.*262+18G>A (n.*262+18G>A) c.609+18G>A (n.609+18G>A) c.711+18G>A (n.711+18G>A) | dbSNP gnomAD v4 |
| 15 | g.89211726A>C | CA2630242567 | RLBP1 | c.684+17T>G (n.684+17T>G) c.101+17T>G c.*262+17T>G (n.*262+17T>G) c.609+17T>G (n.609+17T>G) c.711+17T>G (n.711+17T>G) | gnomAD v4 |
| 15 | g.89211727G>A | CA2630242568 | RLBP1 | c.684+16C>T (n.684+16C>T) c.101+16C>T c.*262+16C>T (n.*262+16C>T) c.609+16C>T (n.609+16C>T) c.711+16C>T (n.711+16C>T) | gnomAD v4 |
| 15 | g.89211730C= | CA2194510101 | RLBP1 | c.684+13G= (n.684+13G=) c.101+13G= c.*262+13G= (n.*262+13G=) c.609+13G= (n.609+13G=) c.711+13G= (n.711+13G=) | |
| 15 | g.89211730C>T | CA2194510113 | RLBP1 | c.684+13G>A (n.684+13G>A) c.101+13G>A c.*262+13G>A (n.*262+13G>A) c.609+13G>A (n.609+13G>A) c.711+13G>A (n.711+13G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89211731T>A | CA2630242569 | RLBP1 | c.684+12A>T (n.684+12A>T) c.101+12A>T c.*262+12A>T (n.*262+12A>T) c.609+12A>T (n.609+12A>T) c.711+12A>T (n.711+12A>T) | gnomAD v4 |
| 15 | g.89211731T>G | CA2194510119 | RLBP1 | c.684+12A>C (n.684+12A>C) c.101+12A>C c.*262+12A>C (n.*262+12A>C) c.609+12A>C (n.609+12A>C) c.711+12A>C (n.711+12A>C) | dbSNP gnomAD v4 |
| 15 | g.89211731T= | CA2194510117 | RLBP1 | c.684+12A= (n.684+12A=) c.101+12A= c.*262+12A= (n.*262+12A=) c.609+12A= (n.609+12A=) c.711+12A= (n.711+12A=) | |
| 15 | g.89211732C= | CA2194510121 | RLBP1 | c.684+11G= (n.684+11G=) c.101+11G= c.*262+11G= (n.*262+11G=) c.609+11G= (n.609+11G=) c.711+11G= (n.711+11G=) | |
| 15 | g.89211732C>T | CA619857179 | RLBP1 | c.684+11G>A (n.684+11G>A) c.101+11G>A c.*262+11G>A (n.*262+11G>A) c.609+11G>A (n.609+11G>A) c.711+11G>A (n.711+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211734A= | CA2194510130 | RLBP1 | c.684+9T= (n.684+9T=) c.101+9T= c.*262+9T= (n.*262+9T=) c.609+9T= (n.609+9T=) c.711+9T= (n.711+9T=) | |
| 15 | g.89211734A>G | CA619857180 | RLBP1 | c.684+9T>C (n.684+9T>C) c.101+9T>C c.*262+9T>C (n.*262+9T>C) c.609+9T>C (n.609+9T>C) c.711+9T>C (n.711+9T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211736G>C | CA274532587 | RLBP1 | c.684+7C>G (n.684+7C>G) c.101+7C>G c.*262+7C>G (n.*262+7C>G) c.609+7C>G (n.609+7C>G) c.711+7C>G (n.711+7C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211736G= | CA2194510138 | RLBP1 | c.684+7C= (n.684+7C=) c.101+7C= c.*262+7C= (n.*262+7C=) c.609+7C= (n.609+7C=) c.711+7C= (n.711+7C=) | |
| 15 | g.89211737C>A | CA2630242572 | RLBP1 | c.684+6G>T (n.684+6G>T) c.101+6G>T c.*262+6G>T (n.*262+6G>T) c.609+6G>T (n.609+6G>T) c.711+6G>T (n.711+6G>T) | gnomAD v4 |
| 15 | g.89211737C= | CA2194510142 | RLBP1 | c.684+6G= (n.684+6G=) c.101+6G= c.*262+6G= (n.*262+6G=) c.609+6G= (n.609+6G=) c.711+6G= (n.711+6G=) | |
| 15 | g.89211737C>G | CA7722227 | RLBP1 | c.684+6G>C (n.684+6G>C) c.101+6G>C c.*262+6G>C (n.*262+6G>C) c.609+6G>C (n.609+6G>C) c.711+6G>C (n.711+6G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89211738C>T | CA2630242573 | RLBP1 | c.684+5G>A (n.684+5G>A) c.101+5G>A c.*262+5G>A (n.*262+5G>A) c.609+5G>A (n.609+5G>A) c.711+5G>A (n.711+5G>A) | gnomAD v4 |
| 15 | g.89211739T>C | CA2630242574 | RLBP1 | c.684+4A>G (n.684+4A>G) c.101+4A>G c.*262+4A>G (n.*262+4A>G) c.609+4A>G (n.609+4A>G) c.711+4A>G (n.711+4A>G) | gnomAD v4 |
| 15 | g.89211740C= | CA2194510148 | RLBP1 | c.684+3G= (n.684+3G=) c.101+3G= c.*262+3G= (n.*262+3G=) c.609+3G= (n.609+3G=) c.711+3G= (n.711+3G=) | |
| 15 | g.89211740C>G | CA619857181 | RLBP1 | c.684+3G>C (n.684+3G>C) c.101+3G>C c.*262+3G>C (n.*262+3G>C) c.609+3G>C (n.609+3G>C) c.711+3G>C (n.711+3G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211740C>T | CA619857182 | RLBP1 | c.684+3G>A (n.684+3G>A) c.101+3G>A c.*262+3G>A (n.*262+3G>A) c.609+3G>A (n.609+3G>A) c.711+3G>A (n.711+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211741A>C | CA393728953 | RLBP1 | c.684+2T>G (n.684+2T>G) c.101+2T>G c.*262+2T>G (n.*262+2T>G) c.609+2T>G (n.609+2T>G) c.711+2T>G (n.711+2T>G) | |
| 15 | g.89211741A>G | CA393728954 | RLBP1 | c.684+2T>C (n.684+2T>C) c.101+2T>C c.*262+2T>C (n.*262+2T>C) c.609+2T>C (n.609+2T>C) c.711+2T>C (n.711+2T>C) | |
| 15 | g.89211741A>T | CA393728955 | RLBP1 | c.684+2T>A (n.684+2T>A) c.101+2T>A c.*262+2T>A (n.*262+2T>A) c.609+2T>A (n.609+2T>A) c.711+2T>A (n.711+2T>A) | |
| 15 | g.89211741_89211742delinsAC | CA2194510153 | RLBP1 | c.684+1_684+2delinsGT (n.684+1_684+2delinsGT) c.101+1_101+2delinsGT c.*262+1_*262+2delinsGT (n.*262+1_*262+2delinsGT) c.609+1_609+2delinsGT (n.609+1_609+2delinsGT) c.711+1_711+2delinsGT (n.711+1_711+2delinsGT) | |
| 15 | g.89211742C>A | CA393728957 | RLBP1 | c.684+1G>T (n.684+1G>T) c.101+1G>T c.*262+1G>T (n.*262+1G>T) c.609+1G>T (n.609+1G>T) c.711+1G>T (n.711+1G>T) | |
| 15 | g.89211742C>G | CA393728958 | RLBP1 | c.684+1G>C (n.684+1G>C) c.101+1G>C c.*262+1G>C (n.*262+1G>C) c.609+1G>C (n.609+1G>C) c.711+1G>C (n.711+1G>C) | |
| 15 | g.89211742C>T | CA393728956 | RLBP1 | c.684+1G>A (n.684+1G>A) c.101+1G>A c.*262+1G>A (n.*262+1G>A) c.609+1G>A (n.609+1G>A) c.711+1G>A (n.711+1G>A) | |
| 15 | g.89211743del | CA619857183 | RLBP1 | c.684+1del c.101+1del c.*262+1del c.609+1del c.711+1del | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211743C>A | CA393728959 | RLBP1 | c.684G>T (p.Gln228His) c.101G>T c.*262G>T (n.*262G>T) c.609G>T (p.Gln203His) c.711G>T (p.Gln237His) | |
| 15 | g.89211743C= | CA2194510160 | RLBP1 | c.684G= (p.Gln228=) c.101G= c.*262G= (n.*262G=) c.609G= (p.Gln203=) c.711G= (p.Gln237=) | |
| 15 | g.89211743C>G | CA393728960 | RLBP1 | c.684G>C (p.Gln228His) c.101G>C c.*262G>C (n.*262G>C) c.609G>C (p.Gln203His) c.711G>C (p.Gln237His) | |
| 15 | g.89211743C>T | CA492075798 | RLBP1 | c.684G>A (p.Gln228=) c.101G>A c.*262G>A (n.*262G>A) c.609G>A (p.Gln203=) c.711G>A (p.Gln237=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211744T>A | CA393728961 | RLBP1 | c.683A>T (p.Gln228Leu) c.100A>T c.*261A>T (n.*261A>T) c.608A>T (p.Gln203Leu) c.710A>T (p.Gln237Leu) | |
| 15 | g.89211744T>C | CA7722228 | RLBP1 | c.683A>G (p.Gln228Arg) c.100A>G c.*261A>G (n.*261A>G) c.608A>G (p.Gln203Arg) c.710A>G (p.Gln237Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89211744T>G | CA393728962 | RLBP1 | c.683A>C (p.Gln228Pro) c.100A>C c.*261A>C (n.*261A>C) c.608A>C (p.Gln203Pro) c.710A>C (p.Gln237Pro) | |
| 15 | g.89211744T= | CA2194510170 | RLBP1 | c.683A= (p.Gln228=) c.100A= c.*261A= (n.*261A=) c.608A= (p.Gln203=) c.710A= (p.Gln237=) | |
| 15 | g.89211745G>A | CA393728963 | RLBP1 | c.682C>T (p.Gln228Ter) c.99C>T c.*260C>T (n.*260C>T) c.607C>T (p.Gln203Ter) c.709C>T (p.Gln237Ter) | gnomAD v4 |
| 15 | g.89211745G>C | CA393728964 | RLBP1 | c.682C>G (p.Gln228Glu) c.99C>G c.*260C>G (n.*260C>G) c.607C>G (p.Gln203Glu) c.709C>G (p.Gln237Glu) | |
| 15 | g.89211745G>T | CA393728965 | RLBP1 | c.682C>A (p.Gln228Lys) c.99C>A c.*260C>A (n.*260C>A) c.607C>A (p.Gln203Lys) c.709C>A (p.Gln237Lys) | |
| 15 | g.89211746G>A | CA492075818 | RLBP1 | c.681C>T (p.Leu227=) c.98C>T c.*259C>T (n.*259C>T) c.606C>T (p.Leu202=) c.708C>T (p.Leu236=) | |
| 15 | g.89211746G>C | CA492075820 | RLBP1 | c.681C>G (p.Leu227=) c.98C>G c.*259C>G (n.*259C>G) c.606C>G (p.Leu202=) c.708C>G (p.Leu236=) | gnomAD v4 |
| 15 | g.89211746G= | CA2194510176 | RLBP1 | c.681C= (p.Leu227=) c.98C= c.*259C= (n.*259C=) c.606C= (p.Leu202=) c.708C= (p.Leu236=) | |
| 15 | g.89211746G>T | CA7722229 | RLBP1 | c.681C>A (p.Leu227=) c.98C>A c.*259C>A (n.*259C>A) c.606C>A (p.Leu202=) c.708C>A (p.Leu236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211747A>C | CA393728966 | RLBP1 | c.680T>G (p.Leu227Arg) c.97T>G c.*258T>G (n.*258T>G) c.605T>G (p.Leu202Arg) c.707T>G (p.Leu236Arg) | |
| 15 | g.89211747A>G | CA393728967 | RLBP1 | c.680T>C (p.Leu227Pro) c.97T>C c.*258T>C (n.*258T>C) c.605T>C (p.Leu202Pro) c.707T>C (p.Leu236Pro) | |
| 15 | g.89211747A>T | CA393728968 | RLBP1 | c.680T>A (p.Leu227His) c.97T>A c.*258T>A (n.*258T>A) c.605T>A (p.Leu202His) c.707T>A (p.Leu236His) | |
| 15 | g.89211748G>A | CA393728970 | RLBP1 | c.679C>T (p.Leu227Phe) c.96C>T c.*257C>T (n.*257C>T) c.604C>T (p.Leu202Phe) c.706C>T (p.Leu236Phe) | |
| 15 | g.89211748G>C | CA393728971 | RLBP1 | c.679C>G (p.Leu227Val) c.96C>G c.*257C>G (n.*257C>G) c.604C>G (p.Leu202Val) c.706C>G (p.Leu236Val) | |
| 15 | g.89211748G>T | CA393728969 | RLBP1 | c.679C>A (p.Leu227Ile) c.96C>A c.*257C>A (n.*257C>A) c.604C>A (p.Leu202Ile) c.706C>A (p.Leu236Ile) | |
| 15 | g.89211749C>A | CA393728972 | RLBP1 | c.678G>T (p.Met226Ile) c.95G>T c.*256G>T (n.*256G>T) c.603G>T (p.Met201Ile) c.705G>T (p.Met235Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211749C= | CA2194510177 | RLBP1 | c.678G= (p.Met226=) c.95G= c.*256G= (n.*256G=) c.603G= (p.Met201=) c.705G= (p.Met235=) | |
| 15 | g.89211749C>G | CA393728973 | RLBP1 | c.678G>C (p.Met226Ile) c.95G>C c.*256G>C (n.*256G>C) c.603G>C (p.Met201Ile) c.705G>C (p.Met235Ile) | gnomAD v4 COSMIC |
| 15 | g.89211749C>T | CA393728974 | RLBP1 | c.678G>A (p.Met226Ile) c.95G>A c.*256G>A (n.*256G>A) c.603G>A (p.Met201Ile) c.705G>A (p.Met235Ile) | dbSNP gnomAD v4 |
| 15 | g.89211750A= | CA2194510183 | RLBP1 | c.677T= (p.Met226=) c.94T= c.*255T= (n.*255T=) c.602T= (p.Met201=) c.704T= (p.Met235=) | |
| 15 | g.89211750A>C | CA393728975 | RLBP1 | c.677T>G (p.Met226Arg) c.94T>G c.*255T>G (n.*255T>G) c.602T>G (p.Met201Arg) c.704T>G (p.Met235Arg) | gnomAD v4 |
| 15 | g.89211750A>G | CA393728976 | RLBP1 | c.677T>C (p.Met226Thr) c.94T>C c.*255T>C (n.*255T>C) c.602T>C (p.Met201Thr) c.704T>C (p.Met235Thr) | gnomAD v4 |
| 15 | g.89211750A>T | CA122840 | RLBP1 | c.677T>A (p.Met226Lys) c.94T>A c.*255T>A (n.*255T>A) c.602T>A (p.Met201Lys) c.704T>A (p.Met235Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211751T>A | CA393728977 | RLBP1 | c.676A>T (p.Met226Leu) c.93A>T c.*254A>T (n.*254A>T) c.601A>T (p.Met201Leu) c.703A>T (p.Met235Leu) | |
| 15 | g.89211751T>C | CA393728979 | RLBP1 | c.676A>G (p.Met226Val) c.93A>G c.*254A>G (n.*254A>G) c.601A>G (p.Met201Val) c.703A>G (p.Met235Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211751T>G | CA393728978 | RLBP1 | c.676A>C (p.Met226Leu) c.93A>C c.*254A>C (n.*254A>C) c.601A>C (p.Met201Leu) c.703A>C (p.Met235Leu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89211751T= | CA2194510188 | RLBP1 | c.676A= (p.Met226=) c.93A= c.*254A= (n.*254A=) c.601A= (p.Met201=) c.703A= (p.Met235=) | |
| 15 | g.89211752G>A | CA492075852 | RLBP1 | c.675C>T (p.Asp225=) c.92C>T c.*253C>T (n.*253C>T) c.600C>T (p.Asp200=) c.702C>T (p.Asp234=) | gnomAD v4 |
| 15 | g.89211752G>C | CA393728980 | RLBP1 | c.675C>G (p.Asp225Glu) c.92C>G c.*253C>G (n.*253C>G) c.600C>G (p.Asp200Glu) c.702C>G (p.Asp234Glu) | |
| 15 | g.89211752G>T | CA393728981 | RLBP1 | c.675C>A (p.Asp225Glu) c.92C>A c.*253C>A (n.*253C>A) c.600C>A (p.Asp200Glu) c.702C>A (p.Asp234Glu) | |
| 15 | g.89211753T>A | CA393728982 | RLBP1 | c.674A>T (p.Asp225Val) c.91A>T c.*252A>T (n.*252A>T) c.599A>T (p.Asp200Val) c.701A>T (p.Asp234Val) | |
| 15 | g.89211753T>C | CA393728983 | RLBP1 | c.674A>G (p.Asp225Gly) c.91A>G c.*252A>G (n.*252A>G) c.599A>G (p.Asp200Gly) c.701A>G (p.Asp234Gly) | |
| 15 | g.89211753T>G | CA393728984 | RLBP1 | c.674A>C (p.Asp225Ala) c.91A>C c.*252A>C (n.*252A>C) c.599A>C (p.Asp200Ala) c.701A>C (p.Asp234Ala) | |
| 15 | g.89211754C>A | CA393728986 | RLBP1 | c.673G>T (p.Asp225Tyr) c.90G>T c.*251G>T (n.*251G>T) c.598G>T (p.Asp200Tyr) c.700G>T (p.Asp234Tyr) | |
| 15 | g.89211754C>G | CA393728987 | RLBP1 | c.673G>C (p.Asp225His) c.90G>C c.*251G>C (n.*251G>C) c.598G>C (p.Asp200His) c.700G>C (p.Asp234His) | |
| 15 | g.89211754C>T | CA393728985 | RLBP1 | c.673G>A (p.Asp225Asn) c.90G>A c.*251G>A (n.*251G>A) c.598G>A (p.Asp200Asn) c.700G>A (p.Asp234Asn) | |
| 15 | g.89211755C>A | CA492075866 | RLBP1 | c.672G>T (p.Val224=) c.89G>T c.*250G>T (n.*250G>T) c.597G>T (p.Val199=) c.699G>T (p.Val233=) | |
| 15 | g.89211755C>G | CA492075869 | RLBP1 | c.672G>C (p.Val224=) c.89G>C c.*250G>C (n.*250G>C) c.597G>C (p.Val199=) c.699G>C (p.Val233=) | |
| 15 | g.89211755C>T | CA492075867 | RLBP1 | c.672G>A (p.Val224=) c.89G>A c.*250G>A (n.*250G>A) c.597G>A (p.Val199=) c.699G>A (p.Val233=) | |
| 15 | g.89211756A>C | CA393728989 | RLBP1 | c.671T>G (p.Val224Gly) c.88T>G c.*249T>G (n.*249T>G) c.596T>G (p.Val199Gly) c.698T>G (p.Val233Gly) | gnomAD v4 |
| 15 | g.89211756A>G | CA393728988 | RLBP1 | c.671T>C (p.Val224Ala) c.88T>C c.*249T>C (n.*249T>C) c.596T>C (p.Val199Ala) c.698T>C (p.Val233Ala) | |
| 15 | g.89211756A>T | CA393728990 | RLBP1 | c.671T>A (p.Val224Glu) c.88T>A c.*249T>A (n.*249T>A) c.596T>A (p.Val199Glu) c.698T>A (p.Val233Glu) | |
| 15 | g.89211757C>A | CA393728991 | RLBP1 | c.670G>T (p.Val224Leu) c.87G>T c.*248G>T (n.*248G>T) c.595G>T (p.Val199Leu) c.697G>T (p.Val233Leu) | |
| 15 | g.89211757C>G | CA393728992 | RLBP1 | c.670G>C (p.Val224Leu) c.87G>C c.*248G>C (n.*248G>C) c.595G>C (p.Val199Leu) c.697G>C (p.Val233Leu) | ClinVar |
| 15 | g.89211757C>T | CA393728993 | RLBP1 | c.670G>A (p.Val224Met) c.87G>A c.*248G>A (n.*248G>A) c.595G>A (p.Val199Met) c.697G>A (p.Val233Met) | gnomAD v4 |
| 15 | g.89211758C>A | CA393728994 | RLBP1 | c.669G>T (p.Met223Ile) c.86G>T c.*247G>T (n.*247G>T) c.594G>T (p.Met198Ile) c.696G>T (p.Met232Ile) | |
| 15 | g.89211758C>G | CA393728995 | RLBP1 | c.669G>C (p.Met223Ile) c.86G>C c.*247G>C (n.*247G>C) c.594G>C (p.Met198Ile) c.696G>C (p.Met232Ile) | |
| 15 | g.89211758C>T | CA393728996 | RLBP1 | c.669G>A (p.Met223Ile) c.86G>A c.*247G>A (n.*247G>A) c.594G>A (p.Met198Ile) c.696G>A (p.Met232Ile) |