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 |
|---|---|---|---|---|---|
| 12 | g.106496018A= | CA2061068945 | POLR3B | c.2714-37A= (n.2714-37A=) c.2540-37A= (n.2540-37A=) | |
| 12 | g.106496018A>G | CA6762267 | POLR3B | c.2714-37A>G (n.2714-37A>G) c.2540-37A>G (n.2540-37A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106496019C>A | CA2620658527 | POLR3B | c.2714-36C>A (n.2714-36C>A) c.2540-36C>A (n.2540-36C>A) | gnomAD v4 |
| 12 | g.106496020T>A | CA2620658528 | POLR3B | c.2714-35T>A (n.2714-35T>A) c.2540-35T>A (n.2540-35T>A) | gnomAD v4 |
| 12 | g.106496022G= | CA2061068947 | POLR3B | c.2714-33G= (n.2714-33G=) c.2540-33G= (n.2540-33G=) | |
| 12 | g.106496022G>T | CA6762268 | POLR3B | c.2714-33G>T (n.2714-33G>T) c.2540-33G>T (n.2540-33G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.106496023C>A | CA2575275545 | POLR3B | c.2714-32C>A (n.2714-32C>A) c.2540-32C>A (n.2540-32C>A) | gnomAD v4 |
| 12 | g.106496023C= | CA2061068948 | POLR3B | c.2714-32C= (n.2714-32C=) c.2540-32C= (n.2540-32C=) | |
| 12 | g.106496023C>T | CA6762269 | POLR3B | c.2714-32C>T (n.2714-32C>T) c.2540-32C>T (n.2540-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106496026T>A | CA607221522 | POLR3B | c.2714-29T>A (n.2714-29T>A) c.2540-29T>A (n.2540-29T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.106496026T= | CA2061068950 | POLR3B | c.2714-29T= (n.2714-29T=) c.2540-29T= (n.2540-29T=) | |
| 12 | g.106496027A= | CA2061068953 | POLR3B | c.2714-28A= (n.2714-28A=) c.2540-28A= (n.2540-28A=) | |
| 12 | g.106496027A>G | CA6762270 | POLR3B | c.2714-28A>G (n.2714-28A>G) c.2540-28A>G (n.2540-28A>G) | dbSNP ExAC gnomAD v2 |
| 12 | g.106496029G>A | CA2620658529 | POLR3B | c.2714-26G>A (n.2714-26G>A) c.2540-26G>A (n.2540-26G>A) | gnomAD v4 |
| 12 | g.106496029G= | CA2061068955 | POLR3B | c.2714-26G= (n.2714-26G=) c.2540-26G= (n.2540-26G=) | |
| 12 | g.106496029G>T | CA607221523 | POLR3B | c.2714-26G>T (n.2714-26G>T) c.2540-26G>T (n.2540-26G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106496030T>A | CA2575275546 | POLR3B | c.2714-25T>A (n.2714-25T>A) c.2540-25T>A (n.2540-25T>A) | gnomAD v4 |
| 12 | g.106496030T>G | CA2620658530 | POLR3B | c.2714-25T>G (n.2714-25T>G) c.2540-25T>G (n.2540-25T>G) | gnomAD v4 |
| 12 | g.106496032G>A | CA2620658531 | POLR3B | c.2714-23G>A (n.2714-23G>A) c.2540-23G>A (n.2540-23G>A) | gnomAD v4 |
| 12 | g.106496032G>T | CA2620658532 | POLR3B | c.2714-23G>T (n.2714-23G>T) c.2540-23G>T (n.2540-23G>T) | gnomAD v4 |
| 12 | g.106496033C>A | CA2575275547 | POLR3B | c.2714-22C>A (n.2714-22C>A) c.2540-22C>A (n.2540-22C>A) | gnomAD v4 |
| 12 | g.106496033C>T | CA2620658533 | POLR3B | c.2714-22C>T (n.2714-22C>T) c.2540-22C>T (n.2540-22C>T) | gnomAD v4 |
| 12 | g.106496034A= | CA2061068957 | POLR3B | c.2714-21A= (n.2714-21A=) c.2540-21A= (n.2540-21A=) | |
| 12 | g.106496034A>C | CA607221524 | POLR3B | c.2714-21A>C (n.2714-21A>C) c.2540-21A>C (n.2540-21A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.106496034A>G | CA683136651 | POLR3B | c.2714-21A>G (n.2714-21A>G) c.2540-21A>G (n.2540-21A>G) | dbSNP |
| 12 | g.106496035T>C | CA2620658534 | POLR3B | c.2714-20T>C (n.2714-20T>C) c.2540-20T>C (n.2540-20T>C) | gnomAD v4 |
| 12 | g.106496036G>A | CA2575275548 | POLR3B | c.2714-19G>A (n.2714-19G>A) c.2540-19G>A (n.2540-19G>A) | gnomAD v4 |
| 12 | g.106496037A>G | CA2575275549 | POLR3B | c.2714-18A>G (n.2714-18A>G) c.2540-18A>G (n.2540-18A>G) | gnomAD v4 |
| 12 | g.106496039A= | CA2061068961 | POLR3B | c.2714-16A= (n.2714-16A=) c.2540-16A= (n.2540-16A=) | |
| 12 | g.106496039A>G | CA6762271 | POLR3B | c.2714-16A>G (n.2714-16A>G) c.2540-16A>G (n.2540-16A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106496040T>C | CA683136658 | POLR3B | c.2714-15T>C (n.2714-15T>C) c.2540-15T>C (n.2540-15T>C) | dbSNP |
| 12 | g.106496040T= | CA2061068963 | POLR3B | c.2714-15T= (n.2714-15T=) c.2540-15T= (n.2540-15T=) | |
| 12 | g.106496043_106496045del | CA2620658535 | POLR3B | c.2714-12_2714-10del (n.2714-12_2714-10del) c.2540-12_2540-10del (n.2540-12_2540-10del) | gnomAD v4 |
| 12 | g.106496041C>A | CA2620658536 | POLR3B | c.2714-14C>A (n.2714-14C>A) c.2540-14C>A (n.2540-14C>A) | gnomAD v4 |
| 12 | g.106496042T>A | CA607221526 | POLR3B | c.2714-13T>A (n.2714-13T>A) c.2540-13T>A (n.2540-13T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.106496042T>C | CA2575275550 | POLR3B | c.2714-13T>C (n.2714-13T>C) c.2540-13T>C (n.2540-13T>C) | |
| 12 | g.106496042T= | CA2061068965 | POLR3B | c.2714-13T= (n.2714-13T=) c.2540-13T= (n.2540-13T=) | |
| 12 | g.106496043T>C | CA2620658537 | POLR3B | c.2714-12T>C (n.2714-12T>C) c.2540-12T>C (n.2540-12T>C) | gnomAD v4 |
| 12 | g.106496044C>A | CA2620658538 | POLR3B | c.2714-11C>A (n.2714-11C>A) c.2540-11C>A (n.2540-11C>A) | gnomAD v4 |
| 12 | g.106496044C= | CA2061068968 | POLR3B | c.2714-11C= (n.2714-11C=) c.2540-11C= (n.2540-11C=) | |
| 12 | g.106496044C>G | CA2061068969 | POLR3B | c.2714-11C>G (n.2714-11C>G) c.2540-11C>G (n.2540-11C>G) | dbSNP gnomAD v4 |
| 12 | g.106496044C>T | CA2620658539 | POLR3B | c.2714-11C>T (n.2714-11C>T) c.2540-11C>T (n.2540-11C>T) | gnomAD v4 |
| 12 | g.106496045T>C | CA2061068973 | POLR3B | c.2714-10T>C (n.2714-10T>C) c.2540-10T>C (n.2540-10T>C) | ClinVar dbSNP gnomAD v4 |
| 12 | g.106496045T= | CA2061068971 | POLR3B | c.2714-10T= (n.2714-10T=) c.2540-10T= (n.2540-10T=) | |
| 12 | g.106496046C>A | CA2620658540 | POLR3B | c.2714-9C>A (n.2714-9C>A) c.2540-9C>A (n.2540-9C>A) | gnomAD v4 |
| 12 | g.106496046C= | CA2061068975 | POLR3B | c.2714-9C= (n.2714-9C=) c.2540-9C= (n.2540-9C=) | |
| 12 | g.106496046C>G | CA6762272 | POLR3B | c.2714-9C>G (n.2714-9C>G) c.2540-9C>G (n.2540-9C>G) | dbSNP ExAC gnomAD v4 |
| 12 | g.106496047T>C | CA2620658541 | POLR3B | c.2714-8T>C (n.2714-8T>C) c.2540-8T>C (n.2540-8T>C) | gnomAD v4 |
| 12 | g.106496048C>A | CA2620658542 | POLR3B | c.2714-7C>A (n.2714-7C>A) c.2540-7C>A (n.2540-7C>A) | gnomAD v4 |
| 12 | g.106496048C>T | CA645587215 | POLR3B | c.2714-7C>T (n.2714-7C>T) c.2540-7C>T (n.2540-7C>T) | gnomAD v4 COSMIC |
| 12 | g.106496052del | CA2620658543 | POLR3B | c.2714-3del (n.2714-3del) c.2540-3del (n.2540-3del) | gnomAD v4 |
| 12 | g.106496051_106496052del | CA2620658544 | POLR3B | c.2714-4_2714-3del (n.2714-4_2714-3del) c.2540-4_2540-3del (n.2540-4_2540-3del) | gnomAD v4 |
| 12 | g.106496049C>A | CA2620658545 | POLR3B | c.2714-6C>A (n.2714-6C>A) c.2540-6C>A (n.2540-6C>A) | gnomAD v4 |
| 12 | g.106496049C= | CA2061068979 | POLR3B | c.2714-6C= (n.2714-6C=) c.2540-6C= (n.2540-6C=) | |
| 12 | g.106496049C>T | CA6762273 | POLR3B | c.2714-6C>T (n.2714-6C>T) c.2540-6C>T (n.2540-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.106496050C>A | CA2523247209 | POLR3B | c.2714-5C>A (n.2714-5C>A) c.2540-5C>A (n.2540-5C>A) | gnomAD v4 |
| 12 | g.106496050C>T | CA2620658546 | POLR3B | c.2714-5C>T (n.2714-5C>T) c.2540-5C>T (n.2540-5C>T) | gnomAD v4 |
| 12 | g.106496051C>A | CA2620658548 | POLR3B | c.2714-4C>A (n.2714-4C>A) c.2540-4C>A (n.2540-4C>A) | gnomAD v4 |
| 12 | g.106496051C>G | CA2620658547 | POLR3B | c.2714-4C>G (n.2714-4C>G) c.2540-4C>G (n.2540-4C>G) | gnomAD v4 |
| 12 | g.106496051C>T | CA2620658549 | POLR3B | c.2714-4C>T (n.2714-4C>T) c.2540-4C>T (n.2540-4C>T) | gnomAD v4 |
| 12 | g.106496052C>A | CA2620658550 | POLR3B | c.2714-3C>A (n.2714-3C>A) c.2540-3C>A (n.2540-3C>A) | gnomAD v4 |
| 12 | g.106496052C= | CA2061068981 | POLR3B | c.2714-3C= (n.2714-3C=) c.2540-3C= (n.2540-3C=) | |
| 12 | g.106496052C>T | CA951495232 | POLR3B | c.2714-3C>T (n.2714-3C>T) c.2540-3C>T (n.2540-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.106496053A= | CA2061068986 | POLR3B | c.2714-2A= (n.2714-2A=) c.2540-2A= (n.2540-2A=) | |
| 12 | g.106496053A>C | CA386392497 | POLR3B | c.2714-2A>C (n.2714-2A>C) c.2540-2A>C (n.2540-2A>C) | |
| 12 | g.106496053A>G | CA243217075 | POLR3B | c.2714-2A>G (n.2714-2A>G) c.2540-2A>G (n.2540-2A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106496053A>T | CA386392498 | POLR3B | c.2714-2A>T (n.2714-2A>T) c.2540-2A>T (n.2540-2A>T) | |
| 12 | g.106496054G>A | CA386392499 | POLR3B | c.2714-1G>A (n.2714-1G>A) c.2540-1G>A (n.2540-1G>A) | |
| 12 | g.106496054G>C | CA386392500 | POLR3B | c.2714-1G>C (n.2714-1G>C) c.2540-1G>C (n.2540-1G>C) | |
| 12 | g.106496054G>T | CA386392501 | POLR3B | c.2714-1G>T (n.2714-1G>T) c.2540-1G>T (n.2540-1G>T) | |
| 12 | g.106496055G>A | CA386392502 | POLR3B | c.2714G>A (p.Gly905Asp) c.2540G>A (p.Gly847Asp) | COSMIC |
| 12 | g.106496055G>C | CA386392503 | POLR3B | c.2714G>C (p.Gly905Ala) c.2540G>C (p.Gly847Ala) | |
| 12 | g.106496055G>T | CA386392504 | POLR3B | c.2714G>T (p.Gly905Val) c.2540G>T (p.Gly847Val) | |
| 12 | g.106496056T>A | CA481650055 | POLR3B | c.2715T>A (p.Gly905=) c.2541T>A (p.Gly847=) | |
| 12 | g.106496056T>C | CA481650057 | POLR3B | c.2715T>C (p.Gly905=) c.2541T>C (p.Gly847=) | gnomAD v4 |
| 12 | g.106496056T>G | CA481650059 | POLR3B | c.2715T>G (p.Gly905=) c.2541T>G (p.Gly847=) | |
| 12 | g.106496057G>A | CA386392507 | POLR3B | c.2716G>A (p.Val906Ile) c.2542G>A (p.Val848Ile) | |
| 12 | g.106496057G>C | CA386392505 | POLR3B | c.2716G>C (p.Val906Leu) c.2542G>C (p.Val848Leu) | |
| 12 | g.106496057G>T | CA386392506 | POLR3B | c.2716G>T (p.Val906Phe) c.2542G>T (p.Val848Phe) | |
| 12 | g.106496058T>A | CA386392508 | POLR3B | c.2717T>A (p.Val906Asp) c.2543T>A (p.Val848Asp) | |
| 12 | g.106496058T>C | CA386392509 | POLR3B | c.2717T>C (p.Val906Ala) c.2543T>C (p.Val848Ala) | |
| 12 | g.106496058T>G | CA386392510 | POLR3B | c.2717T>G (p.Val906Gly) c.2543T>G (p.Val848Gly) | |
| 12 | g.106496059T>A | CA481650067 | POLR3B | c.2718T>A (p.Val906=) c.2544T>A (p.Val848=) | |
| 12 | g.106496059T>C | CA481650069 | POLR3B | c.2718T>C (p.Val906=) c.2544T>C (p.Val848=) | |
| 12 | g.106496059T>G | CA481650065 | POLR3B | c.2718T>G (p.Val906=) c.2544T>G (p.Val848=) | COSMIC |
| 12 | g.106496060T>A | CA386392511 | POLR3B | c.2719T>A (p.Cys907Ser) c.2545T>A (p.Cys849Ser) | |
| 12 | g.106496060T>C | CA386392512 | POLR3B | c.2719T>C (p.Cys907Arg) c.2545T>C (p.Cys849Arg) | |
| 12 | g.106496060T>G | CA386392513 | POLR3B | c.2719T>G (p.Cys907Gly) c.2545T>G (p.Cys849Gly) | |
| 12 | g.106496061G>A | CA386392514 | POLR3B | c.2720G>A (p.Cys907Tyr) c.2546G>A (p.Cys849Tyr) | |
| 12 | g.106496061G>C | CA386392515 | POLR3B | c.2720G>C (p.Cys907Ser) c.2546G>C (p.Cys849Ser) | |
| 12 | g.106496061G>T | CA386392516 | POLR3B | c.2720G>T (p.Cys907Phe) c.2546G>T (p.Cys849Phe) | |
| 12 | g.106496062T>A | CA386392517 | POLR3B | c.2721T>A (p.Cys907Ter) c.2547T>A (p.Cys849Ter) | |
| 12 | g.106496062T>C | CA481650078 | POLR3B | c.2721T>C (p.Cys907=) c.2547T>C (p.Cys849=) | dbSNP |
| 12 | g.106496062T>G | CA386392518 | POLR3B | c.2721T>G (p.Cys907Trp) c.2547T>G (p.Cys849Trp) | |
| 12 | g.106496062T= | CA2061068991 | POLR3B | c.2721T= (p.Cys907=) c.2547T= (p.Cys849=) | |
| 12 | g.106496063G>A | CA386392521 | POLR3B | c.2722G>A (p.Gly908Ser) c.2548G>A (p.Gly850Ser) | dbSNP |
| 12 | g.106496063G>C | CA386392520 | POLR3B | c.2722G>C (p.Gly908Arg) c.2548G>C (p.Gly850Arg) | |
| 12 | g.106496063G= | CA2061068993 | POLR3B | c.2722G= (p.Gly908=) c.2548G= (p.Gly850=) | |
| 12 | g.106496063G>T | CA386392519 | POLR3B | c.2722G>T (p.Gly908Cys) c.2548G>T (p.Gly850Cys) | |
| 12 | g.106496064G>A | CA386392522 | POLR3B | c.2723G>A (p.Gly908Asp) c.2549G>A (p.Gly850Asp) | |
| 12 | g.106496064G>C | CA386392523 | POLR3B | c.2723G>C (p.Gly908Ala) c.2549G>C (p.Gly850Ala) | |
| 12 | g.106496064G>T | CA386392524 | POLR3B | c.2723G>T (p.Gly908Val) c.2549G>T (p.Gly850Val) | |
| 12 | g.106496065C>A | CA481650089 | POLR3B | c.2724C>A (p.Gly908=) c.2550C>A (p.Gly850=) | gnomAD v4 |
| 12 | g.106496065C>G | CA481650092 | POLR3B | c.2724C>G (p.Gly908=) c.2550C>G (p.Gly850=) | |
| 12 | g.106496065C>T | CA481650090 | POLR3B | c.2724C>T (p.Gly908=) c.2550C>T (p.Gly850=) | gnomAD v4 |
| 12 | g.106496066T>A | CA386392525 | POLR3B | c.2725T>A (p.Leu909Met) c.2551T>A (p.Leu851Met) | |
| 12 | g.106496066T>C | CA481650095 | POLR3B | c.2725T>C (p.Leu909=) c.2551T>C (p.Leu851=) | |
| 12 | g.106496066T>G | CA386392526 | POLR3B | c.2725T>G (p.Leu909Val) c.2551T>G (p.Leu851Val) | |
| 12 | g.106496067T>A | CA386392527 | POLR3B | c.2726T>A (p.Leu909Ter) c.2552T>A (p.Leu851Ter) | |
| 12 | g.106496067T>C | CA386392528 | POLR3B | c.2726T>C (p.Leu909Ser) c.2552T>C (p.Leu851Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106496067T>G | CA386392529 | POLR3B | c.2726T>G (p.Leu909Trp) c.2552T>G (p.Leu851Trp) | |
| 12 | g.106496067T= | CA2061068995 | POLR3B | c.2726T= (p.Leu909=) c.2552T= (p.Leu851=) | |
| 12 | g.106496068G>A | CA481650101 | POLR3B | c.2727G>A (p.Leu909=) c.2553G>A (p.Leu851=) | gnomAD v4 |
| 12 | g.106496068G>C | CA386392530 | POLR3B | c.2727G>C (p.Leu909Phe) c.2553G>C (p.Leu851Phe) | |
| 12 | g.106496068G= | CA2061068997 | POLR3B | c.2727G= (p.Leu909=) c.2553G= (p.Leu851=) | |
| 12 | g.106496068G>T | CA6762274 | POLR3B | c.2727G>T (p.Leu909Phe) c.2553G>T (p.Leu851Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106496069A= | CA2061069000 | POLR3B | c.2728A= (p.Ile910=) c.2554A= (p.Ile852=) | |
| 12 | g.106496069A>C | CA386392531 | POLR3B | c.2728A>C (p.Ile910Leu) c.2554A>C (p.Ile852Leu) | |
| 12 | g.106496069A>G | CA6762276 | POLR3B | c.2728A>G (p.Ile910Val) c.2554A>G (p.Ile852Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106496069A>T | CA6762275 | POLR3B | c.2728A>T (p.Ile910Phe) c.2554A>T (p.Ile852Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.106496070T>A | CA386392532 | POLR3B | c.2729T>A (p.Ile910Asn) c.2555T>A (p.Ile852Asn) | |
| 12 | g.106496070T>C | CA386392534 | POLR3B | c.2729T>C (p.Ile910Thr) c.2555T>C (p.Ile852Thr) | |
| 12 | g.106496070T>G | CA386392533 | POLR3B | c.2729T>G (p.Ile910Ser) c.2555T>G (p.Ile852Ser) | |
| 12 | g.106496071C>A | CA481650111 | POLR3B | c.2730C>A (p.Ile910=) c.2556C>A (p.Ile852=) | |
| 12 | g.106496071C= | CA2061069005 | POLR3B | c.2730C= (p.Ile910=) c.2556C= (p.Ile852=) | |
| 12 | g.106496071C>G | CA386392535 | POLR3B | c.2730C>G (p.Ile910Met) c.2556C>G (p.Ile852Met) | |
| 12 | g.106496071C>T | CA6762277 | POLR3B | c.2730C>T (p.Ile910=) c.2556C>T (p.Ile852=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106496072G>A | CA6762278 | POLR3B | c.2731G>A (p.Val911Ile) c.2557G>A (p.Val853Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106496072G>C | CA386392536 | POLR3B | c.2731G>C (p.Val911Leu) c.2557G>C (p.Val853Leu) | |
| 12 | g.106496072G= | CA2061069011 | POLR3B | c.2731G= (p.Val911=) c.2557G= (p.Val853=) | |
| 12 | g.106496072G>T | CA386392537 | POLR3B | c.2731G>T (p.Val911Phe) c.2557G>T (p.Val853Phe) | |
| 12 | g.106496073T>A | CA386392538 | POLR3B | c.2732T>A (p.Val911Asp) c.2558T>A (p.Val853Asp) | |
| 12 | g.106496073T>C | CA386392539 | POLR3B | c.2732T>C (p.Val911Ala) c.2558T>C (p.Val853Ala) | ClinVar dbSNP gnomAD v4 |
| 12 | g.106496073T>G | CA386392540 | POLR3B | c.2732T>G (p.Val911Gly) c.2558T>G (p.Val853Gly) | |
| 12 | g.106496074C>A | CA481650120 | POLR3B | c.2733C>A (p.Val911=) c.2559C>A (p.Val853=) | dbSNP gnomAD v4 |
| 12 | g.106496074C= | CA2061069019 | POLR3B | c.2733C= (p.Val911=) c.2559C= (p.Val853=) | |
| 12 | g.106496074C>G | CA481650121 | POLR3B | c.2733C>G (p.Val911=) c.2559C>G (p.Val853=) | |
| 12 | g.106496074C>T | CA481650123 | POLR3B | c.2733C>T (p.Val911=) c.2559C>T (p.Val853=) | |
| 12 | g.106496078del | CA2575275551 | POLR3B | c.2737del (p.Gln913ArgfsTer17) c.2563del (p.Gln855ArgfsTer17) | gnomAD v4 |
| 12 | g.106496075C>A | CA386392541 | POLR3B | c.2734C>A (p.Pro912Thr) c.2560C>A (p.Pro854Thr) | |
| 12 | g.106496075C= | CA2061069020 | POLR3B | c.2734C= (p.Pro912=) c.2560C= (p.Pro854=) | |
| 12 | g.106496075C>G | CA386392542 | POLR3B | c.2734C>G (p.Pro912Ala) c.2560C>G (p.Pro854Ala) | |
| 12 | g.106496075C>T | CA386392543 | POLR3B | c.2734C>T (p.Pro912Ser) c.2560C>T (p.Pro854Ser) | dbSNP gnomAD v4 |
| 12 | g.106496076C>A | CA386392545 | POLR3B | c.2735C>A (p.Pro912His) c.2561C>A (p.Pro854His) | gnomAD v4 |
| 12 | g.106496076C= | CA2061069022 | POLR3B | c.2735C= (p.Pro912=) c.2561C= (p.Pro854=) | |
| 12 | g.106496076C>G | CA243217077 | POLR3B | c.2735C>G (p.Pro912Arg) c.2561C>G (p.Pro854Arg) | dbSNP gnomAD v4 |
| 12 | g.106496076C>T | CA386392544 | POLR3B | c.2735C>T (p.Pro912Leu) c.2561C>T (p.Pro854Leu) | |
| 12 | g.106496077C>A | CA481650127 | POLR3B | c.2736C>A (p.Pro912=) c.2562C>A (p.Pro854=) | |
| 12 | g.106496077C>G | CA481650128 | POLR3B | c.2736C>G (p.Pro912=) c.2562C>G (p.Pro854=) | |
| 12 | g.106496077C>T | CA481650129 | POLR3B | c.2736C>T (p.Pro912=) c.2562C>T (p.Pro854=) | |
| 12 | g.106496078C>A | CA386392546 | POLR3B | c.2737C>A (p.Gln913Lys) c.2563C>A (p.Gln855Lys) | dbSNP |
| 12 | g.106496078C= | CA2061069028 | POLR3B | c.2737C= (p.Gln913=) c.2563C= (p.Gln855=) | |
| 12 | g.106496078C>G | CA386392547 | POLR3B | c.2737C>G (p.Gln913Glu) c.2563C>G (p.Gln855Glu) | |
| 12 | g.106496078C>T | CA386392548 | POLR3B | c.2737C>T (p.Gln913Ter) c.2563C>T (p.Gln855Ter) | |
| 12 | g.106496079A= | CA2061069031 | POLR3B | c.2738A= (p.Gln913=) c.2564A= (p.Gln855=) | |
| 12 | g.106496079A>C | CA6762279 | POLR3B | c.2738A>C (p.Gln913Pro) c.2564A>C (p.Gln855Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.106496079A>G | CA386392549 | POLR3B | c.2738A>G (p.Gln913Arg) c.2564A>G (p.Gln855Arg) | |
| 12 | g.106496079A>T | CA386392550 | POLR3B | c.2738A>T (p.Gln913Leu) c.2564A>T (p.Gln855Leu) | |
| 12 | g.106496080G>A | CA481650130 | POLR3B | c.2739G>A (p.Gln913=) c.2565G>A (p.Gln855=) | |
| 12 | g.106496080G>C | CA386392551 | POLR3B | c.2739G>C (p.Gln913His) c.2565G>C (p.Gln855His) | |
| 12 | g.106496080G>T | CA386392552 | POLR3B | c.2739G>T (p.Gln913His) c.2565G>T (p.Gln855His) | |
| 12 | g.106496081G>A | CA386392553 | POLR3B | c.2740G>A (p.Glu914Lys) c.2566G>A (p.Glu856Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.106496081G>C | CA386392554 | POLR3B | c.2740G>C (p.Glu914Gln) c.2566G>C (p.Glu856Gln) | |
| 12 | g.106496081G= | CA2061069034 | POLR3B | c.2740G= (p.Glu914=) c.2566G= (p.Glu856=) | |
| 12 | g.106496081G>T | CA386392555 | POLR3B | c.2740G>T (p.Glu914Ter) c.2566G>T (p.Glu856Ter) | |
| 12 | g.106496082A>C | CA386392556 | POLR3B | c.2741A>C (p.Glu914Ala) c.2567A>C (p.Glu856Ala) | |
| 12 | g.106496082A>G | CA386392557 | POLR3B | c.2741A>G (p.Glu914Gly) c.2567A>G (p.Glu856Gly) | |
| 12 | g.106496082A>T | CA386392558 | POLR3B | c.2741A>T (p.Glu914Val) c.2567A>T (p.Glu856Val) | |
| 12 | g.106496083A>C | CA386392560 | POLR3B | c.2742A>C (p.Glu914Asp) c.2568A>C (p.Glu856Asp) | |
| 12 | g.106496083A>G | CA481650134 | POLR3B | c.2742A>G (p.Glu914=) c.2568A>G (p.Glu856=) | |
| 12 | g.106496083A>T | CA386392559 | POLR3B | c.2742A>T (p.Glu914Asp) c.2568A>T (p.Glu856Asp) | |
| 12 | g.106496084G>A | CA386392561 | POLR3B | c.2743G>A (p.Asp915Asn) c.2569G>A (p.Asp857Asn) | gnomAD v4 |
| 12 | g.106496084G>C | CA386392562 | POLR3B | c.2743G>C (p.Asp915His) c.2569G>C (p.Asp857His) | |
| 12 | g.106496084G>T | CA386392563 | POLR3B | c.2743G>T (p.Asp915Tyr) c.2569G>T (p.Asp857Tyr) | |
| 12 | g.106496085A>C | CA386392564 | POLR3B | c.2744A>C (p.Asp915Ala) c.2570A>C (p.Asp857Ala) | |
| 12 | g.106496085A>G | CA386392565 | POLR3B | c.2744A>G (p.Asp915Gly) c.2570A>G (p.Asp857Gly) | |
| 12 | g.106496085A>T | CA386392566 | POLR3B | c.2744A>T (p.Asp915Val) c.2570A>T (p.Asp857Val) | |
| 12 | g.106496086C>A | CA386392568 | POLR3B | c.2745C>A (p.Asp915Glu) c.2571C>A (p.Asp857Glu) | gnomAD v4 |
| 12 | g.106496086C>G | CA386392567 | POLR3B | c.2745C>G (p.Asp915Glu) c.2571C>G (p.Asp857Glu) | |
| 12 | g.106496086C>T | CA481650142 | POLR3B | c.2745C>T (p.Asp915=) c.2571C>T (p.Asp857=) | |
| 12 | g.106496087A= | CA2061069037 | POLR3B | c.2746A= (p.Met916=) c.2572A= (p.Met858=) | |
| 12 | g.106496087A>C | CA386392569 | POLR3B | c.2746A>C (p.Met916Leu) c.2572A>C (p.Met858Leu) | |
| 12 | g.106496087A>G | CA386392570 | POLR3B | c.2746A>G (p.Met916Val) c.2572A>G (p.Met858Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.106496087A>T | CA386392571 | POLR3B | c.2746A>T (p.Met916Leu) c.2572A>T (p.Met858Leu) | gnomAD v4 |
| 12 | g.106496088T>A | CA386392572 | POLR3B | c.2747T>A (p.Met916Lys) c.2573T>A (p.Met858Lys) | gnomAD v4 |
| 12 | g.106496088T>C | CA386392573 | POLR3B | c.2747T>C (p.Met916Thr) c.2573T>C (p.Met858Thr) | gnomAD v4 |
| 12 | g.106496088T>G | CA243217080 | POLR3B | c.2747T>G (p.Met916Arg) c.2573T>G (p.Met858Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.106496088T= | CA2061069040 | POLR3B | c.2747T= (p.Met916=) c.2573T= (p.Met858=) | |
| 12 | g.106496089G>A | CA386392574 | POLR3B | c.2748G>A (p.Met916Ile) c.2574G>A (p.Met858Ile) | |
| 12 | g.106496089G>C | CA386392576 | POLR3B | c.2748G>C (p.Met916Ile) c.2574G>C (p.Met858Ile) | |
| 12 | g.106496089G>T | CA386392575 | POLR3B | c.2748G>T (p.Met916Ile) c.2574G>T (p.Met858Ile) | |
| 12 | g.106496090C>A | CA386392577 | POLR3B | c.2749C>A (p.Pro917Thr) c.2575C>A (p.Pro859Thr) | |
| 12 | g.106496090C= | CA2061069042 | POLR3B | c.2749C= (p.Pro917=) c.2575C= (p.Pro859=) | |
| 12 | g.106496090C>G | CA386392578 | POLR3B | c.2749C>G (p.Pro917Ala) c.2575C>G (p.Pro859Ala) | |
| 12 | g.106496090C>T | CA243217082 | POLR3B | c.2749C>T (p.Pro917Ser) c.2575C>T (p.Pro859Ser) | dbSNP |
| 12 | g.106496091C>A | CA386392579 | POLR3B | c.2750C>A (p.Pro917Gln) c.2576C>A (p.Pro859Gln) | |
| 12 | g.106496091C= | CA2061069044 | POLR3B | c.2750C= (p.Pro917=) c.2576C= (p.Pro859=) | |
| 12 | g.106496091C>G | CA386392580 | POLR3B | c.2750C>G (p.Pro917Arg) c.2576C>G (p.Pro859Arg) | dbSNP |
| 12 | g.106496091C>T | CA386392581 | POLR3B | c.2750C>T (p.Pro917Leu) c.2576C>T (p.Pro859Leu) | gnomAD v4 |
| 12 | g.106496091_106496098dup | CA2620658551 | POLR3B | c.2750_2757dup (p.Asp920HisfsTer13) c.2576_2583dup (p.Asp862HisfsTer13) | gnomAD v4 |
| 12 | g.106496092A= | CA2061069049 | POLR3B | c.2751A= (p.Pro917=) c.2577A= (p.Pro859=) | |
| 12 | g.106496092A>C | CA481650162 | POLR3B | c.2751A>C (p.Pro917=) c.2577A>C (p.Pro859=) | |
| 12 | g.106496092A>G | CA6762280 | POLR3B | c.2751A>G (p.Pro917=) c.2577A>G (p.Pro859=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.106496092A>T | CA481650165 | POLR3B | c.2751A>T (p.Pro917=) c.2577A>T (p.Pro859=) | |
| 12 | g.106496093T>A | CA386392582 | POLR3B | c.2752T>A (p.Phe918Ile) c.2578T>A (p.Phe860Ile) | |
| 12 | g.106496093T>C | CA386392583 | POLR3B | c.2752T>C (p.Phe918Leu) c.2578T>C (p.Phe860Leu) | |
| 12 | g.106496093T>G | CA386392584 | POLR3B | c.2752T>G (p.Phe918Val) c.2578T>G (p.Phe860Val) | |
| 12 | g.106496094T>A | CA386392585 | POLR3B | c.2753T>A (p.Phe918Tyr) c.2579T>A (p.Phe860Tyr) | |
| 12 | g.106496094T>C | CA386392586 | POLR3B | c.2753T>C (p.Phe918Ser) c.2579T>C (p.Phe860Ser) | |
| 12 | g.106496094T>G | CA386392587 | POLR3B | c.2753T>G (p.Phe918Cys) c.2579T>G (p.Phe860Cys) | |
| 12 | g.106496095T>A | CA386392589 | POLR3B | c.2754T>A (p.Phe918Leu) c.2580T>A (p.Phe860Leu) | |
| 12 | g.106496095T>C | CA481650174 | POLR3B | c.2754T>C (p.Phe918=) c.2580T>C (p.Phe860=) | |
| 12 | g.106496095T>G | CA386392588 | POLR3B | c.2754T>G (p.Phe918Leu) c.2580T>G (p.Phe860Leu) | |
| 12 | g.106496096T>A | CA386392590 | POLR3B | c.2755T>A (p.Cys919Ser) c.2581T>A (p.Cys861Ser) | |
| 12 | g.106496096T>C | CA386392591 | POLR3B | c.2755T>C (p.Cys919Arg) c.2581T>C (p.Cys861Arg) | |
| 12 | g.106496096T>G | CA386392592 | POLR3B | c.2755T>G (p.Cys919Gly) c.2581T>G (p.Cys861Gly) | |
| 12 | g.106496097del | CA2620658552 | POLR3B | c.2756del (p.Cys919LeufsTer11) c.2582del (p.Cys861LeufsTer11) | gnomAD v4 |
| 12 | g.106496097G>A | CA386392593 | POLR3B | c.2756G>A (p.Cys919Tyr) c.2582G>A (p.Cys861Tyr) | |
| 12 | g.106496097G>C | CA386392594 | POLR3B | c.2756G>C (p.Cys919Ser) c.2582G>C (p.Cys861Ser) | |
| 12 | g.106496097G>T | CA386392595 | POLR3B | c.2756G>T (p.Cys919Phe) c.2582G>T (p.Cys861Phe) | |
| 12 | g.106496098T>A | CA386392596 | POLR3B | c.2757T>A (p.Cys919Ter) c.2583T>A (p.Cys861Ter) | |
| 12 | g.106496098T>C | CA481650185 | POLR3B | c.2757T>C (p.Cys919=) c.2583T>C (p.Cys861=) | |
| 12 | g.106496098T>G | CA386392597 | POLR3B | c.2757T>G (p.Cys919Trp) c.2583T>G (p.Cys861Trp) | |
| 12 | g.106496101_106496129dup | CA2620658553 | POLR3B | c.2760_2788dup (p.Asn930IlefsTer10) c.2586_2614dup (p.Asn872IlefsTer10) | gnomAD v4 |
| 12 | g.106496099G>A | CA386392598 | POLR3B | c.2758G>A (p.Asp920Asn) c.2584G>A (p.Asp862Asn) | gnomAD v4 |
| 12 | g.106496099G>C | CA386392599 | POLR3B | c.2758G>C (p.Asp920His) c.2584G>C (p.Asp862His) | |
| 12 | g.106496099G>T | CA386392600 | POLR3B | c.2758G>T (p.Asp920Tyr) c.2584G>T (p.Asp862Tyr) | |
| 12 | g.106496100A= | CA2061069051 | POLR3B | c.2759A= (p.Asp920=) c.2585A= (p.Asp862=) | |
| 12 | g.106496100A>C | CA386392601 | POLR3B | c.2759A>C (p.Asp920Ala) c.2585A>C (p.Asp862Ala) | |
| 12 | g.106496100A>G | CA386392602 | POLR3B | c.2759A>G (p.Asp920Gly) c.2585A>G (p.Asp862Gly) | |
| 12 | g.106496100A>T | CA6762281 | POLR3B | c.2759A>T (p.Asp920Val) c.2585A>T (p.Asp862Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.106496101T>A | CA386392603 | POLR3B | c.2760T>A (p.Asp920Glu) c.2586T>A (p.Asp862Glu) | |
| 12 | g.106496101T>C | CA481650197 | POLR3B | c.2760T>C (p.Asp920=) c.2586T>C (p.Asp862=) | dbSNP |
| 12 | g.106496101T>G | CA386392604 | POLR3B | c.2760T>G (p.Asp920Glu) c.2586T>G (p.Asp862Glu) | |
| 12 | g.106496101T= | CA2061069056 | POLR3B | c.2760T= (p.Asp920=) c.2586T= (p.Asp862=) | |
| 12 | g.106496102T>A | CA386392605 | POLR3B | c.2761T>A (p.Ser921Thr) c.2587T>A (p.Ser863Thr) | |
| 12 | g.106496102T>C | CA386392607 | POLR3B | c.2761T>C (p.Ser921Pro) c.2587T>C (p.Ser863Pro) | |
| 12 | g.106496102T>G | CA386392606 | POLR3B | c.2761T>G (p.Ser921Ala) c.2587T>G (p.Ser863Ala) | |
| 12 | g.106496103C>A | CA386392608 | POLR3B | c.2762C>A (p.Ser921Tyr) c.2588C>A (p.Ser863Tyr) | |
| 12 | g.106496103C= | CA2061069059 | POLR3B | c.2762C= (p.Ser921=) c.2588C= (p.Ser863=) | |
| 12 | g.106496103C>G | CA386392610 | POLR3B | c.2762C>G (p.Ser921Cys) c.2588C>G (p.Ser863Cys) | |
| 12 | g.106496103C>T | CA386392609 | POLR3B | c.2762C>T (p.Ser921Phe) c.2588C>T (p.Ser863Phe) | dbSNP |
| 12 | g.106496104T>A | CA481650204 | POLR3B | c.2763T>A (p.Ser921=) c.2589T>A (p.Ser863=) | gnomAD v4 |
| 12 | g.106496104T>C | CA481650206 | POLR3B | c.2763T>C (p.Ser921=) c.2589T>C (p.Ser863=) | |
| 12 | g.106496104T>G | CA481650207 | POLR3B | c.2763T>G (p.Ser921=) c.2589T>G (p.Ser863=) | |
| 12 | g.106496105G>A | CA386392611 | POLR3B | c.2764G>A (p.Gly922Ser) c.2590G>A (p.Gly864Ser) | |
| 12 | g.106496105G>C | CA386392612 | POLR3B | c.2764G>C (p.Gly922Arg) c.2590G>C (p.Gly864Arg) | |
| 12 | g.106496105G>T | CA386392613 | POLR3B | c.2764G>T (p.Gly922Cys) c.2590G>T (p.Gly864Cys) | |
| 12 | g.106496106G>A | CA386392614 | POLR3B | c.2765G>A (p.Gly922Asp) c.2591G>A (p.Gly864Asp) | gnomAD v4 |
| 12 | g.106496106G>C | CA386392615 | POLR3B | c.2765G>C (p.Gly922Ala) c.2591G>C (p.Gly864Ala) | |
| 12 | g.106496106G>T | CA386392616 | POLR3B | c.2765G>T (p.Gly922Val) c.2591G>T (p.Gly864Val) | |
| 12 | g.106496107C>A | CA481650215 | POLR3B | c.2766C>A (p.Gly922=) c.2592C>A (p.Gly864=) | |
| 12 | g.106496107C>G | CA481650216 | POLR3B | c.2766C>G (p.Gly922=) c.2592C>G (p.Gly864=) | gnomAD v4 |
| 12 | g.106496107C>T | CA481650218 | POLR3B | c.2766C>T (p.Gly922=) c.2592C>T (p.Gly864=) | gnomAD v4 |
| 12 | g.106496108A= | CA2061069062 | POLR3B | c.2767A= (p.Ile923=) c.2593A= (p.Ile865=) | |
| 12 | g.106496108A>C | CA386392617 | POLR3B | c.2767A>C (p.Ile923Leu) c.2593A>C (p.Ile865Leu) | dbSNP |
| 12 | g.106496108A>G | CA386392618 | POLR3B | c.2767A>G (p.Ile923Val) c.2593A>G (p.Ile865Val) | dbSNP |
| 12 | g.106496108A>T | CA386392619 | POLR3B | c.2767A>T (p.Ile923Phe) c.2593A>T (p.Ile865Phe) | |
| 12 | g.106496109T>A | CA386392620 | POLR3B | c.2768T>A (p.Ile923Asn) c.2594T>A (p.Ile865Asn) | |
| 12 | g.106496109T>C | CA386392621 | POLR3B | c.2768T>C (p.Ile923Thr) c.2594T>C (p.Ile865Thr) | |
| 12 | g.106496109T>G | CA386392622 | POLR3B | c.2768T>G (p.Ile923Ser) c.2594T>G (p.Ile865Ser) | |
| 12 | g.106496110C>A | CA481650227 | POLR3B | c.2769C>A (p.Ile923=) c.2595C>A (p.Ile865=) | |
| 12 | g.106496110C= | CA2061069063 | POLR3B | c.2769C= (p.Ile923=) c.2595C= (p.Ile865=) | |
| 12 | g.106496110C>G | CA243217085 | POLR3B | c.2769C>G (p.Ile923Met) c.2595C>G (p.Ile865Met) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.106496110C>T | CA481650229 | POLR3B | c.2769C>T (p.Ile923=) c.2595C>T (p.Ile865=) | |
| 12 | g.106496111T>A | CA386392623 | POLR3B | c.2770T>A (p.Cys924Ser) c.2596T>A (p.Cys866Ser) | |
| 12 | g.106496111T>C | CA386392625 | POLR3B | c.2770T>C (p.Cys924Arg) c.2596T>C (p.Cys866Arg) | gnomAD v4 |
| 12 | g.106496111T>G | CA386392624 | POLR3B | c.2770T>G (p.Cys924Gly) c.2596T>G (p.Cys866Gly) | |
| 12 | g.106496112G>A | CA386392626 | POLR3B | c.2771G>A (p.Cys924Tyr) c.2597G>A (p.Cys866Tyr) | gnomAD v4 |
| 12 | g.106496112G>C | CA386392627 | POLR3B | c.2771G>C (p.Cys924Ser) c.2597G>C (p.Cys866Ser) | |
| 12 | g.106496112G>T | CA386392628 | POLR3B | c.2771G>T (p.Cys924Phe) c.2597G>T (p.Cys866Phe) | |
| 12 | g.106496113T>A | CA386392629 | POLR3B | c.2772T>A (p.Cys924Ter) c.2598T>A (p.Cys866Ter) | |
| 12 | g.106496113T>C | CA481650239 | POLR3B | c.2772T>C (p.Cys924=) c.2598T>C (p.Cys866=) | |
| 12 | g.106496113T>G | CA386392630 | POLR3B | c.2772T>G (p.Cys924Trp) c.2598T>G (p.Cys866Trp) | |
| 12 | g.106496114C>A | CA386392631 | POLR3B | c.2773C>A (p.Pro925Thr) c.2599C>A (p.Pro867Thr) | |
| 12 | g.106496114C>G | CA386392632 | POLR3B | c.2773C>G (p.Pro925Ala) c.2599C>G (p.Pro867Ala) | |
| 12 | g.106496114C>T | CA386392633 | POLR3B | c.2773C>T (p.Pro925Ser) c.2599C>T (p.Pro867Ser) | |
| 12 | g.106496115C>A | CA386392634 | POLR3B | c.2774C>A (p.Pro925Gln) c.2600C>A (p.Pro867Gln) | ClinVar dbSNP |
| 12 | g.106496115C= | CA2061069069 | POLR3B | c.2774C= (p.Pro925=) c.2600C= (p.Pro867=) | |
| 12 | g.106496115C>G | CA386392635 | POLR3B | c.2774C>G (p.Pro925Arg) c.2600C>G (p.Pro867Arg) | |
| 12 | g.106496115C>T | CA6762282 | POLR3B | c.2774C>T (p.Pro925Leu) c.2600C>T (p.Pro867Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.106496116G>A | CA6762283 | POLR3B | c.2775G>A (p.Pro925=) c.2601G>A (p.Pro867=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106496116G>C | CA481650250 | POLR3B | c.2775G>C (p.Pro925=) c.2601G>C (p.Pro867=) | |
| 12 | g.106496116G= | CA2061069075 | POLR3B | c.2775G= (p.Pro925=) c.2601G= (p.Pro867=) | |
| 12 | g.106496116G>T | CA481650252 | POLR3B | c.2775G>T (p.Pro925=) c.2601G>T (p.Pro867=) | |
| 12 | g.106496117G>A | CA386392638 | POLR3B | c.2776G>A (p.Asp926Asn) c.2602G>A (p.Asp868Asn) | |
| 12 | g.106496117G>C | CA386392636 | POLR3B | c.2776G>C (p.Asp926His) c.2602G>C (p.Asp868His) | |
| 12 | g.106496117G>T | CA386392637 | POLR3B | c.2776G>T (p.Asp926Tyr) c.2602G>T (p.Asp868Tyr) | |
| 12 | g.106496118A= | CA2061069080 | POLR3B | c.2777A= (p.Asp926=) c.2603A= (p.Asp868=) | |
| 12 | g.106496118A>C | CA386392639 | POLR3B | c.2777A>C (p.Asp926Ala) c.2603A>C (p.Asp868Ala) | |
| 12 | g.106496118A>G | CA16619424 | POLR3B | c.2777A>G (p.Asp926Gly) c.2603A>G (p.Asp868Gly) | ClinVar dbSNP |
| 12 | g.106496118A>T | CA386392640 | POLR3B | c.2777A>T (p.Asp926Val) c.2603A>T (p.Asp868Val) |