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.89664796C>T | CA2630278573 | PLIN1 | c.*787G>A (n.*787G>A) c.269G>A (n.269G>A) | gnomAD v4 |
| 15 | g.89664796_89664797delinsCA | CA2194744369 | PLIN1 | c.*786_*787delinsTG (n.*786_*787delinsTG) c.268_269delinsTG (n.268_269delinsTG) | |
| 15 | g.89664797del | CA619527069 | PLIN1 | c.*786del (n.*786del) c.268del (n.268del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664801C= | CA2194744373 | PLIN1 | c.*782G= (n.*782G=) c.264G= (n.264G=) | |
| 15 | g.89664801C>G | CA2630278575 | PLIN1 | c.*782G>C (n.*782G>C) c.264G>C (n.264G>C) | gnomAD v4 |
| 15 | g.89664801C>T | CA7728699 | PLIN1 | c.*782G>A (n.*782G>A) c.264G>A (n.264G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664802G>A | CA7728700 | PLIN1 | c.*781C>T (n.*781C>T) c.263C>T (n.263C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664802G= | CA2194744378 | PLIN1 | c.*781C= (n.*781C=) c.263C= (n.263C=) | |
| 15 | g.89664802G>T | CA2805178516 | PLIN1 | c.*781C>A (n.*781C>A) c.263C>A (n.263C>A) | |
| 15 | g.89664807C>A | CA2630278581 | PLIN1 | c.*776G>T (n.*776G>T) c.258G>T (n.258G>T) | gnomAD v4 |
| 15 | g.89664807C>G | CA2630278584 | PLIN1 | c.*776G>C (n.*776G>C) c.258G>C (n.258G>C) | gnomAD v4 |
| 15 | g.89664808T>C | CA2630278586 | PLIN1 | c.*775A>G (n.*775A>G) c.257A>G (n.257A>G) | gnomAD v4 |
| 15 | g.89664810G>C | CA274590476 | PLIN1 | c.*773C>G (n.*773C>G) c.255C>G (n.255C>G) | dbSNP |
| 15 | g.89664810G= | CA2194744381 | PLIN1 | c.*773C= (n.*773C=) c.255C= (n.255C=) | |
| 15 | g.89664810G>T | CA2630278589 | PLIN1 | c.*773C>A (n.*773C>A) c.255C>A (n.255C>A) | gnomAD v4 |
| 15 | g.89664812G>A | CA2194744387 | PLIN1 | c.*771C>T (n.*771C>T) c.253C>T (n.253C>T) | dbSNP |
| 15 | g.89664812G= | CA2194744389 | PLIN1 | c.*771C= (n.*771C=) c.253C= (n.253C=) | |
| 15 | g.89664812G>T | CA2630278591 | PLIN1 | c.*771C>A (n.*771C>A) c.253C>A (n.253C>A) | gnomAD v4 |
| 15 | g.89664813T>C | CA619527070 | PLIN1 | c.*770A>G (n.*770A>G) c.252A>G (n.252A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664813T= | CA2194744392 | PLIN1 | c.*770A= (n.*770A=) c.252A= (n.252A=) | |
| 15 | g.89664814_89664815delinsTG | CA2194744393 | PLIN1 | c.*768_*769delinsCA (n.*768_*769delinsCA) c.250_251delinsCA (n.250_251delinsCA) | |
| 15 | g.89664815G>T | CA2630278593 | PLIN1 | c.*768C>A (n.*768C>A) c.250C>A (n.250C>A) | gnomAD v4 |
| 15 | g.89664818del | CA2194744395 | PLIN1 | c.*768del (n.*768del) c.250del (n.250del) | dbSNP |
| 15 | g.89664816G>C | CA274590479 | PLIN1 | c.*767C>G (n.*767C>G) c.249C>G (n.249C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664816G= | CA2194744397 | PLIN1 | c.*767C= (n.*767C=) c.249C= (n.249C=) | |
| 15 | g.89664816G>T | CA2805178517 | PLIN1 | c.*767C>A (n.*767C>A) c.249C>A (n.249C>A) | |
| 15 | g.89664817G>A | CA716950160 | PLIN1 | c.*766C>T (n.*766C>T) c.248C>T (n.248C>T) | dbSNP |
| 15 | g.89664817G= | CA2194744404 | PLIN1 | c.*766C= (n.*766C=) c.248C= (n.248C=) | |
| 15 | g.89664817G>T | CA2630278597 | PLIN1 | c.*766C>A (n.*766C>A) c.248C>A (n.248C>A) | gnomAD v4 |
| 15 | g.89664818G>A | CA619527071 | PLIN1 | c.*765C>T (n.*765C>T) c.247C>T (n.247C>T) | dbSNP gnomAD v2 |
| 15 | g.89664818G= | CA2194744406 | PLIN1 | c.*765C= (n.*765C=) c.247C= (n.247C=) | |
| 15 | g.89664820T>C | CA274590481 | PLIN1 | c.*763A>G (n.*763A>G) c.245A>G (n.245A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664820T= | CA2194744409 | PLIN1 | c.*763A= (n.*763A=) c.245A= (n.245A=) | |
| 15 | g.89664824C>A | CA619527072 | PLIN1 | c.*759G>T (n.*759G>T) c.241G>T (n.241G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89664824C= | CA2194744410 | PLIN1 | c.*759G= (n.*759G=) c.241G= (n.241G=) | |
| 15 | g.89664824C>T | CA2630278602 | PLIN1 | c.*759G>A (n.*759G>A) c.241G>A (n.241G>A) | gnomAD v4 |
| 15 | g.89664826G>A | CA274590483 | PLIN1 | c.*757C>T (n.*757C>T) c.239C>T (n.239C>T) | dbSNP |
| 15 | g.89664826G= | CA2194744412 | PLIN1 | c.*757C= (n.*757C=) c.239C= (n.239C=) | |
| 15 | g.89664829_89664841del | CA2630278604 | PLIN1 | c.*743_*755del (n.*743_*755del) c.225_237del (n.225_237del) | gnomAD v4 |
| 15 | g.89664829G>A | CA2194744418 | PLIN1 | c.*754C>T (n.*754C>T) c.236C>T (n.236C>T) | dbSNP |
| 15 | g.89664829G= | CA2194744416 | PLIN1 | c.*754C= (n.*754C=) c.236C= (n.236C=) | |
| 15 | g.89664831T>C | CA619527073 | PLIN1 | c.*752A>G (n.*752A>G) c.234A>G (n.234A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89664831T= | CA2194744421 | PLIN1 | c.*752A= (n.*752A=) c.234A= (n.234A=) | |
| 15 | g.89664832A= | CA2194744424 | PLIN1 | c.*751T= (n.*751T=) c.233T= (n.233T=) | |
| 15 | g.89664832A>G | CA274590485 | PLIN1 | c.*751T>C (n.*751T>C) c.233T>C (n.233T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664833T>C | CA619527074 | PLIN1 | c.*750A>G (n.*750A>G) c.232A>G (n.232A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664833T= | CA2194744428 | PLIN1 | c.*750A= (n.*750A=) c.232A= (n.232A=) | |
| 15 | g.89664834A>T | CA2731391187 | PLIN1 | c.*749T>A (n.*749T>A) c.231T>A (n.231T>A) | dbSNP |
| 15 | g.89664835C= | CA2194744429 | PLIN1 | c.*748G= (n.*748G=) c.230G= (n.230G=) | |
| 15 | g.89664835C>T | CA274590487 | PLIN1 | c.*748G>A (n.*748G>A) c.230G>A (n.230G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664836A>G | CA2630278605 | PLIN1 | c.*747T>C (n.*747T>C) c.229T>C (n.229T>C) | gnomAD v4 |
| 15 | g.89664837T>C | CA2630278606 | PLIN1 | c.*746A>G (n.*746A>G) c.228A>G (n.228A>G) | gnomAD v4 |
| 15 | g.89664840A= | CA2194744434 | PLIN1 | c.*743T= (n.*743T=) c.225T= (n.225T=) | |
| 15 | g.89664840A>C | CA274590489 | PLIN1 | c.*743T>G (n.*743T>G) c.225T>G (n.225T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89664841G>C | CA619527075 | PLIN1 | c.*742C>G (n.*742C>G) c.224C>G (n.224C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664841G= | CA2194744437 | PLIN1 | c.*742C= (n.*742C=) c.224C= (n.224C=) | |
| 15 | g.89664843C>A | CA393786014 | PLIN1 | c.*740G>T (n.*740G>T) c.222G>T (p.Ter74Tyr) | |
| 15 | g.89664843C>G | CA393786020 | PLIN1 | c.*740G>C (n.*740G>C) c.222G>C (p.Ter74Tyr) | |
| 15 | g.89664844T>A | CA393786021 | PLIN1 | c.*739A>T (n.*739A>T) c.221A>T (p.Ter74Leu) | |
| 15 | g.89664844T>C | CA393786024 | PLIN1 | c.*739A>G (n.*739A>G) c.221A>G (p.Ter74Trp) | |
| 15 | g.89664844T>G | CA393786026 | PLIN1 | c.*739A>C (n.*739A>C) c.221A>C (p.Ter74Ser) | |
| 15 | g.89664845A= | CA2194744441 | PLIN1 | c.*738T= (n.*738T=) c.220T= (p.Ter74=) | |
| 15 | g.89664845A>C | CA393786036 | PLIN1 | c.*738T>G (n.*738T>G) c.220T>G (p.Ter74Glu) | |
| 15 | g.89664845A>G | CA274590491 | PLIN1 | c.*738T>C (n.*738T>C) c.220T>C (p.Ter74Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664845A>T | CA393786030 | PLIN1 | c.*738T>A (n.*738T>A) c.220T>A (p.Ter74Lys) | gnomAD v4 |
| 15 | g.89664846T>C | CA393786039 | PLIN1 | c.*737A>G (n.*737A>G) c.219A>G (p.Ile73Met) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89664846T= | CA2194744448 | PLIN1 | c.*737A= (n.*737A=) c.219A= (p.Ile73=) | |
| 15 | g.89664847A= | CA2194744455 | PLIN1 | c.*736T= (n.*736T=) c.218T= (p.Ile73=) | |
| 15 | g.89664847A>C | CA393786041 | PLIN1 | c.*736T>G (n.*736T>G) c.218T>G (p.Ile73Arg) | |
| 15 | g.89664847A>G | CA393786044 | PLIN1 | c.*736T>C (n.*736T>C) c.218T>C (p.Ile73Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664847A>T | CA393786045 | PLIN1 | c.*736T>A (n.*736T>A) c.218T>A (p.Ile73Lys) | |
| 15 | g.89664848T>A | CA393786048 | PLIN1 | c.*735A>T (n.*735A>T) c.217A>T (p.Ile73Leu) | |
| 15 | g.89664848T>C | CA393786051 | PLIN1 | c.*735A>G (n.*735A>G) c.217A>G (p.Ile73Val) | |
| 15 | g.89664848T>G | CA393786056 | PLIN1 | c.*735A>C (n.*735A>C) c.217A>C (p.Ile73Leu) | |
| 15 | g.89664849A= | CA2194719559 | PLIN1 | c.*734T= (n.*734T=) c.216T= (p.Asp72=) | |
| 15 | g.89664849A>C | CA393786061 | PLIN1 | c.*734T>G (n.*734T>G) c.216T>G (p.Asp72Glu) | |
| 15 | g.89664849A>G | CA619527076 | PLIN1 | c.*734T>C (n.*734T>C) c.216T>C (p.Asp72=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89664849A>T | CA393786067 | PLIN1 | c.*734T>A (n.*734T>A) c.216T>A (p.Asp72Glu) | |
| 15 | g.89664850T>A | CA393786069 | PLIN1 | c.*733A>T (n.*733A>T) c.215A>T (p.Asp72Val) | |
| 15 | g.89664850T>C | CA393786072 | PLIN1 | c.*733A>G (n.*733A>G) c.215A>G (p.Asp72Gly) | dbSNP |
| 15 | g.89664850T>G | CA393786074 | PLIN1 | c.*733A>C (n.*733A>C) c.215A>C (p.Asp72Ala) | |
| 15 | g.89664851C>A | CA393786080 | PLIN1 | c.*732G>T (n.*732G>T) c.214G>T (p.Asp72Tyr) | |
| 15 | g.89664851C>G | CA393786082 | PLIN1 | c.*732G>C (n.*732G>C) c.214G>C (p.Asp72His) | |
| 15 | g.89664851C>T | CA393786077 | PLIN1 | c.*732G>A (n.*732G>A) c.214G>A (p.Asp72Asn) | |
| 15 | g.89664852A>C | CA393786084 | PLIN1 | c.*731T>G (n.*731T>G) c.213T>G (p.Asp71Glu) | |
| 15 | g.89664852A>G | CA2536459207 | PLIN1 | c.*731T>C (n.*731T>C) c.213T>C (p.Asp71=) | |
| 15 | g.89664852A>T | CA393786086 | PLIN1 | c.*731T>A (n.*731T>A) c.213T>A (p.Asp71Glu) | |
| 15 | g.89664853T>A | CA393786089 | PLIN1 | c.*730A>T (n.*730A>T) c.212A>T (p.Asp71Val) | |
| 15 | g.89664853T>C | CA393786091 | PLIN1 | c.*730A>G (n.*730A>G) c.212A>G (p.Asp71Gly) | |
| 15 | g.89664853T>G | CA393786093 | PLIN1 | c.*730A>C (n.*730A>C) c.212A>C (p.Asp71Ala) | |
| 15 | g.89664854C>A | CA393786106 | PLIN1 | c.*729G>T (n.*729G>T) c.211G>T (p.Asp71Tyr) | |
| 15 | g.89664854C>G | CA393786097 | PLIN1 | c.*729G>C (n.*729G>C) c.211G>C (p.Asp71His) | |
| 15 | g.89664854C>T | CA393786103 | PLIN1 | c.*729G>A (n.*729G>A) c.211G>A (p.Asp71Asn) | |
| 15 | g.89664855A= | CA2194719563 | PLIN1 | c.*728T= (n.*728T=) c.210T= (p.Gly70=) | |
| 15 | g.89664855A>G | CA619527077 | PLIN1 | c.*728T>C (n.*728T>C) c.210T>C (p.Gly70=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89664856C>A | CA393786109 | PLIN1 | c.*727G>T (n.*727G>T) c.209G>T (p.Gly70Val) | |
| 15 | g.89664856C>G | CA393786111 | PLIN1 | c.*727G>C (n.*727G>C) c.209G>C (p.Gly70Ala) | |
| 15 | g.89664856C>T | CA393786113 | PLIN1 | c.*727G>A (n.*727G>A) c.209G>A (p.Gly70Asp) | |
| 15 | g.89664857C>A | CA393786115 | PLIN1 | c.*726G>T (n.*726G>T) c.208G>T (p.Gly70Cys) | |
| 15 | g.89664857C= | CA2194719566 | PLIN1 | c.*726G= (n.*726G=) c.208G= (p.Gly70=) | |
| 15 | g.89664857C>G | CA393786116 | PLIN1 | c.*726G>C (n.*726G>C) c.208G>C (p.Gly70Arg) | |
| 15 | g.89664857C>T | CA393786117 | PLIN1 | c.*726G>A (n.*726G>A) c.208G>A (p.Gly70Ser) | dbSNP |
| 15 | g.89664858A= | CA2194719570 | PLIN1 | c.*725T= (n.*725T=) c.207T= (p.Asn69=) | |
| 15 | g.89664858A>C | CA393786118 | PLIN1 | c.*725T>G (n.*725T>G) c.207T>G (p.Asn69Lys) | |
| 15 | g.89664858A>G | CA716950222 | PLIN1 | c.*725T>C (n.*725T>C) c.207T>C (p.Asn69=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89664858A>T | CA393786120 | PLIN1 | c.*725T>A (n.*725T>A) c.207T>A (p.Asn69Lys) | |
| 15 | g.89664858_89664859delinsAT | CA2194719572 | PLIN1 | c.*724_*725delinsAT (n.*724_*725delinsAT) c.206_207delinsAT (p.Asn69=) | |
| 15 | g.89664859T>A | CA393786124 | PLIN1 | c.*724A>T (n.*724A>T) c.206A>T (p.Asn69Ile) | dbSNP gnomAD v4 |
| 15 | g.89664859T>C | CA393786129 | PLIN1 | c.*724A>G (n.*724A>G) c.206A>G (p.Asn69Ser) | |
| 15 | g.89664859T>G | CA393786126 | PLIN1 | c.*724A>C (n.*724A>C) c.206A>C (p.Asn69Thr) | |
| 15 | g.89664859T= | CA2194719575 | PLIN1 | c.*724A= (n.*724A=) c.206A= (p.Asn69=) | |
| 15 | g.89664862del | CA619527078 | PLIN1 | c.*724del (n.*724del) c.206del (p.Asn69MetfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89664860T>A | CA393786133 | PLIN1 | c.*723A>T (n.*723A>T) c.205A>T (p.Asn69Tyr) | |
| 15 | g.89664860T>C | CA393786135 | PLIN1 | c.*723A>G (n.*723A>G) c.205A>G (p.Asn69Asp) | |
| 15 | g.89664860T>G | CA393786138 | PLIN1 | c.*723A>C (n.*723A>C) c.205A>C (p.Asn69His) | |
| 15 | g.89664861T>A | CA393786142 | PLIN1 | c.*722A>T (n.*722A>T) c.204A>T (p.Gln68His) | |
| 15 | g.89664861T>G | CA393786147 | PLIN1 | c.*722A>C (n.*722A>C) c.204A>C (p.Gln68His) | |
| 15 | g.89664862T>A | CA393786156 | PLIN1 | c.*721A>T (n.*721A>T) c.203A>T (p.Gln68Leu) | |
| 15 | g.89664862T>C | CA393786160 | PLIN1 | c.*721A>G (n.*721A>G) c.203A>G (p.Gln68Arg) | |
| 15 | g.89664862T>G | CA393786163 | PLIN1 | c.*721A>C (n.*721A>C) c.203A>C (p.Gln68Pro) | |
| 15 | g.89664863G>A | CA393786166 | PLIN1 | c.*720C>T (n.*720C>T) c.202C>T (p.Gln68Ter) | |
| 15 | g.89664863G>C | CA393786169 | PLIN1 | c.*720C>G (n.*720C>G) c.202C>G (p.Gln68Glu) | |
| 15 | g.89664863G>T | CA393786173 | PLIN1 | c.*720C>A (n.*720C>A) c.202C>A (p.Gln68Lys) | gnomAD v4 |
| 15 | g.89664864G>A | CA274590495 | PLIN1 | c.*719C>T (n.*719C>T) c.201C>T (p.Asn67=) | dbSNP |
| 15 | g.89664864G>C | CA393786178 | PLIN1 | c.*719C>G (n.*719C>G) c.201C>G (p.Asn67Lys) | |
| 15 | g.89664864G= | CA2194719580 | PLIN1 | c.*719C= (n.*719C=) c.201C= (p.Asn67=) | |
| 15 | g.89664864G>T | CA274590494 | PLIN1 | c.*719C>A (n.*719C>A) c.201C>A (p.Asn67Lys) | dbSNP |
| 15 | g.89664865T>A | CA393786190 | PLIN1 | c.*718A>T (n.*718A>T) c.200A>T (p.Asn67Ile) | |
| 15 | g.89664865T>C | CA393786187 | PLIN1 | c.*718A>G (n.*718A>G) c.200A>G (p.Asn67Ser) | |
| 15 | g.89664865T>G | CA393786184 | PLIN1 | c.*718A>C (n.*718A>C) c.200A>C (p.Asn67Thr) | |
| 15 | g.89664866T>A | CA393786194 | PLIN1 | c.*717A>T (n.*717A>T) c.199A>T (p.Asn67Tyr) | |
| 15 | g.89664866T>C | CA393786195 | PLIN1 | c.*717A>G (n.*717A>G) c.199A>G (p.Asn67Asp) | |
| 15 | g.89664866T>G | CA393786197 | PLIN1 | c.*717A>C (n.*717A>C) c.199A>C (p.Asn67His) | |
| 15 | g.89664867C>A | CA619527079 | PLIN1 | c.*716G>T (n.*716G>T) c.198G>T (p.Gly66=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89664867C= | CA2194719584 | PLIN1 | c.*716G= (n.*716G=) c.198G= (p.Gly66=) | |
| 15 | g.89664868C>A | CA393786201 | PLIN1 | c.*715G>T (n.*715G>T) c.197G>T (p.Gly66Val) | |
| 15 | g.89664868C>G | CA393786204 | PLIN1 | c.*715G>C (n.*715G>C) c.197G>C (p.Gly66Ala) | |
| 15 | g.89664868C>T | CA393786206 | PLIN1 | c.*715G>A (n.*715G>A) c.197G>A (p.Gly66Glu) | |
| 15 | g.89664869C>A | CA393786208 | PLIN1 | c.*714G>T (n.*714G>T) c.196G>T (p.Gly66Trp) | gnomAD v4 |
| 15 | g.89664869C= | CA2194719586 | PLIN1 | c.*714G= (n.*714G=) c.196G= (p.Gly66=) | |
| 15 | g.89664869C>G | CA393786209 | PLIN1 | c.*714G>C (n.*714G>C) c.196G>C (p.Gly66Arg) | |
| 15 | g.89664869C>T | CA274590498 | PLIN1 | c.*714G>A (n.*714G>A) c.196G>A (p.Gly66Arg) | dbSNP |
| 15 | g.89664871A= | CA2194719592 | PLIN1 | c.*712T= (n.*712T=) c.194T= (p.Leu65=) | |
| 15 | g.89664871A>C | CA393786222 | PLIN1 | c.*712T>G (n.*712T>G) c.194T>G (p.Leu65Arg) | |
| 15 | g.89664871A>G | CA393786223 | PLIN1 | c.*712T>C (n.*712T>C) c.194T>C (p.Leu65Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89664871A>T | CA393786224 | PLIN1 | c.*712T>A (n.*712T>A) c.194T>A (p.Leu65Gln) | |
| 15 | g.89664872G>C | CA393786229 | PLIN1 | c.*711C>G (n.*711C>G) c.193C>G (p.Leu65Val) | |
| 15 | g.89664872G>T | CA393786231 | PLIN1 | c.*711C>A (n.*711C>A) c.193C>A (p.Leu65Met) | |
| 15 | g.89664873C>A | CA393786233 | PLIN1 | c.*710G>T (n.*710G>T) c.192G>T (p.Met64Ile) | |
| 15 | g.89664873C= | CA2194719594 | PLIN1 | c.*710G= (n.*710G=) c.192G= (p.Met64=) | |
| 15 | g.89664873C>G | CA393786232 | PLIN1 | c.*710G>C (n.*710G>C) c.192G>C (p.Met64Ile) | |
| 15 | g.89664873C>T | CA7728701 | PLIN1 | c.*710G>A (n.*710G>A) c.192G>A (p.Met64Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664874A>C | CA393786236 | PLIN1 | c.*709T>G (n.*709T>G) c.191T>G (p.Met64Arg) | |
| 15 | g.89664874A>G | CA393786241 | PLIN1 | c.*709T>C (n.*709T>C) c.191T>C (p.Met64Thr) | |
| 15 | g.89664874A>T | CA393786243 | PLIN1 | c.*709T>A (n.*709T>A) c.191T>A (p.Met64Lys) | |
| 15 | g.89664875T>A | CA393786247 | PLIN1 | c.*708A>T (n.*708A>T) c.190A>T (p.Met64Leu) | |
| 15 | g.89664875T>C | CA393786248 | PLIN1 | c.*708A>G (n.*708A>G) c.190A>G (p.Met64Val) | |
| 15 | g.89664875T>G | CA393786249 | PLIN1 | c.*708A>C (n.*708A>C) c.190A>C (p.Met64Leu) | |
| 15 | g.89664876C>A | CA393786250 | PLIN1 | c.*707G>T (n.*707G>T) c.189G>T (p.Leu63Phe) | |
| 15 | g.89664876C>G | CA393786253 | PLIN1 | c.*707G>C (n.*707G>C) c.189G>C (p.Leu63Phe) | gnomAD v4 |
| 15 | g.89664877A>C | CA393786256 | PLIN1 | c.*706T>G (n.*706T>G) c.188T>G (p.Leu63Trp) | |
| 15 | g.89664877A>G | CA393786257 | PLIN1 | c.*706T>C (n.*706T>C) c.188T>C (p.Leu63Ser) | |
| 15 | g.89664877A>T | CA393786260 | PLIN1 | c.*706T>A (n.*706T>A) c.188T>A (p.Leu63Ter) | |
| 15 | g.89664879_89664880del | CA2805178518 | PLIN1 | c.*705_*706del (n.*705_*706del) c.187_188del (p.Leu63AspfsTer8) | |
| 15 | g.89664878A= | CA2194719597 | PLIN1 | c.*705T= (n.*705T=) c.187T= (p.Leu63=) | |
| 15 | g.89664878A>C | CA393786262 | PLIN1 | c.*705T>G (n.*705T>G) c.187T>G (p.Leu63Val) | |
| 15 | g.89664878A>G | CA619527080 | PLIN1 | c.*705T>C (n.*705T>C) c.187T>C (p.Leu63=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664878A>T | CA393786263 | PLIN1 | c.*705T>A (n.*705T>A) c.187T>A (p.Leu63Met) | |
| 15 | g.89664880A>C | CA393786269 | PLIN1 | c.*703T>G (n.*703T>G) c.185T>G (p.Leu62Arg) | |
| 15 | g.89664880A>G | CA393786264 | PLIN1 | c.*703T>C (n.*703T>C) c.185T>C (p.Leu62Pro) | |
| 15 | g.89664880A>T | CA393786266 | PLIN1 | c.*703T>A (n.*703T>A) c.185T>A (p.Leu62His) | |
| 15 | g.89664881G>A | CA393786271 | PLIN1 | c.*702C>T (n.*702C>T) c.184C>T (p.Leu62Phe) | |
| 15 | g.89664881G>C | CA393786272 | PLIN1 | c.*702C>G (n.*702C>G) c.184C>G (p.Leu62Val) | |
| 15 | g.89664881G>T | CA393786273 | PLIN1 | c.*702C>A (n.*702C>A) c.184C>A (p.Leu62Ile) | |
| 15 | g.89664882A>C | CA2630278626 | PLIN1 | c.*701T>G (n.*701T>G) c.183T>G (p.Thr61=) | gnomAD v4 |
| 15 | g.89664882A>G | CA2630278628 | PLIN1 | c.*701T>C (n.*701T>C) c.183T>C (p.Thr61=) | gnomAD v4 |
| 15 | g.89664883G>A | CA393786277 | PLIN1 | c.*700C>T (n.*700C>T) c.182C>T (p.Thr61Ile) | |
| 15 | g.89664883G>C | CA393786280 | PLIN1 | c.*700C>G (n.*700C>G) c.182C>G (p.Thr61Ser) | |
| 15 | g.89664883G>T | CA393786283 | PLIN1 | c.*700C>A (n.*700C>A) c.182C>A (p.Thr61Asn) | |
| 15 | g.89664884T>A | CA393786298 | PLIN1 | c.*699A>T (n.*699A>T) c.181A>T (p.Thr61Ser) | |
| 15 | g.89664884T>C | CA393786301 | PLIN1 | c.*699A>G (n.*699A>G) c.181A>G (p.Thr61Ala) | |
| 15 | g.89664884T>G | CA393786307 | PLIN1 | c.*699A>C (n.*699A>C) c.181A>C (p.Thr61Pro) | |
| 15 | g.89664886A>C | CA393786310 | PLIN1 | c.*697T>G (n.*697T>G) c.179T>G (p.Val60Gly) | |
| 15 | g.89664886A>G | CA393786312 | PLIN1 | c.*697T>C (n.*697T>C) c.179T>C (p.Val60Ala) | gnomAD v4 |
| 15 | g.89664886A>T | CA393786315 | PLIN1 | c.*697T>A (n.*697T>A) c.179T>A (p.Val60Asp) | |
| 15 | g.89664887C>A | CA393786322 | PLIN1 | c.*696G>T (n.*696G>T) c.178G>T (p.Val60Phe) | |
| 15 | g.89664887C= | CA2194719600 | PLIN1 | c.*696G= (n.*696G=) c.178G= (p.Val60=) | |
| 15 | g.89664887C>G | CA393786319 | PLIN1 | c.*696G>C (n.*696G>C) c.178G>C (p.Val60Leu) | |
| 15 | g.89664887C>T | CA393786320 | PLIN1 | c.*696G>A (n.*696G>A) c.178G>A (p.Val60Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89664888T>C | CA393786325 | PLIN1 | c.*695A>G (n.*695A>G) c.177A>G (p.Ile59Met) | gnomAD v4 |
| 15 | g.89664889A>C | CA393786326 | PLIN1 | c.*694T>G (n.*694T>G) c.176T>G (p.Ile59Arg) | |
| 15 | g.89664889A>G | CA393786327 | PLIN1 | c.*694T>C (n.*694T>C) c.176T>C (p.Ile59Thr) | |
| 15 | g.89664889A>T | CA393786329 | PLIN1 | c.*694T>A (n.*694T>A) c.176T>A (p.Ile59Lys) | |
| 15 | g.89664890T>A | CA393786333 | PLIN1 | c.*693A>T (n.*693A>T) c.175A>T (p.Ile59Leu) | |
| 15 | g.89664890T>C | CA393786335 | PLIN1 | c.*693A>G (n.*693A>G) c.175A>G (p.Ile59Val) | dbSNP gnomAD v4 |
| 15 | g.89664890T>G | CA393786339 | PLIN1 | c.*693A>C (n.*693A>C) c.175A>C (p.Ile59Leu) | |
| 15 | g.89664891G>C | CA393786346 | PLIN1 | c.*692C>G (n.*692C>G) c.174C>G (p.Cys58Trp) | |
| 15 | g.89664891G>T | CA393786343 | PLIN1 | c.*692C>A (n.*692C>A) c.174C>A (p.Cys58Ter) | |
| 15 | g.89664891_89664898delinsGCAGGTGA | CA2194719604 | PLIN1 | c.*685_*692delinsTCACCTGC (n.*685_*692delinsTCACCTGC) c.167_174delinsTCACCTGC (p.Phe56=) | |
| 15 | g.89664892C>A | CA393786350 | PLIN1 | c.*691G>T (n.*691G>T) c.173G>T (p.Cys58Phe) | |
| 15 | g.89664892C= | CA2194719606 | PLIN1 | c.*691G= (n.*691G=) c.173G= (p.Cys58=) | |
| 15 | g.89664892C>G | CA393786353 | PLIN1 | c.*691G>C (n.*691G>C) c.173G>C (p.Cys58Ser) | |
| 15 | g.89664892C>T | CA393786356 | PLIN1 | c.*691G>A (n.*691G>A) c.173G>A (p.Cys58Tyr) | dbSNP gnomAD v2 |
| 15 | g.89664892_89664898del | CA619527081 | PLIN1 | c.*685_*691del (n.*685_*691del) c.167_173del (p.Phe56SerfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664893A>C | CA393786360 | PLIN1 | c.*690T>G (n.*690T>G) c.172T>G (p.Cys58Gly) | |
| 15 | g.89664893A>G | CA393786363 | PLIN1 | c.*690T>C (n.*690T>C) c.172T>C (p.Cys58Arg) | |
| 15 | g.89664893A>T | CA393786365 | PLIN1 | c.*690T>A (n.*690T>A) c.172T>A (p.Cys58Ser) | gnomAD v4 |
| 15 | g.89664894G>A | CA972622974 | PLIN1 | c.*689C>T (n.*689C>T) c.171C>T (p.Thr57=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89664894G>C | CA2630278634 | PLIN1 | c.*689C>G (n.*689C>G) c.171C>G (p.Thr57=) | gnomAD v4 |
| 15 | g.89664894G= | CA2194719609 | PLIN1 | c.*689C= (n.*689C=) c.171C= (p.Thr57=) |