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 |
|---|---|---|---|---|---|
| 6 | g.44260452T>A | CA364301630 | NFKBIE,POLR1C | c.779A>T (p.Gln260Leu) c.1196A>T (p.Gln399Leu) c.1193A>T (p.Gln398Leu) c.946-181438T>A (n.946-181438T>A) | |
| 6 | g.44260452T>C | CA364301626 | NFKBIE,POLR1C | c.779A>G (p.Gln260Arg) c.1196A>G (p.Gln399Arg) c.1193A>G (p.Gln398Arg) c.946-181438T>C (n.946-181438T>C) | |
| 6 | g.44260452T>G | CA364301628 | NFKBIE,POLR1C | c.779A>C (p.Gln260Pro) c.1196A>C (p.Gln399Pro) c.1193A>C (p.Gln398Pro) c.946-181438T>G (n.946-181438T>G) | |
| 6 | g.44260453G>A | CA364301632 | NFKBIE,POLR1C | c.778C>T (p.Gln260Ter) c.1195C>T (p.Gln399Ter) c.1192C>T (p.Gln398Ter) c.946-181437G>A (n.946-181437G>A) | |
| 6 | g.44260453G>C | CA364301633 | NFKBIE,POLR1C | c.778C>G (p.Gln260Glu) c.1195C>G (p.Gln399Glu) c.1192C>G (p.Gln398Glu) c.946-181437G>C (n.946-181437G>C) | |
| 6 | g.44260453G>T | CA364301635 | NFKBIE,POLR1C | c.778C>A (p.Gln260Lys) c.1195C>A (p.Gln399Lys) c.1192C>A (p.Gln398Lys) c.946-181437G>T (n.946-181437G>T) | |
| 6 | g.44260454C>A | CA450311350 | NFKBIE,POLR1C | c.777G>T (p.Val259=) c.1194G>T (p.Val398=) c.1191G>T (p.Val397=) c.946-181436C>A (n.946-181436C>A) | |
| 6 | g.44260454C= | CA1624897529 | NFKBIE,POLR1C | c.777G= (p.Val259=) c.1194G= (p.Val398=) c.1191G= (p.Val397=) c.946-181436C= (n.946-181436C=) | |
| 6 | g.44260454C>G | CA450311348 | NFKBIE,POLR1C | c.777G>C (p.Val259=) c.1194G>C (p.Val398=) c.1191G>C (p.Val397=) c.946-181436C>G (n.946-181436C>G) | |
| 6 | g.44260454C>T | CA450311349 | NFKBIE,POLR1C | c.777G>A (p.Val259=) c.1194G>A (p.Val398=) c.1191G>A (p.Val397=) c.946-181436C>T (n.946-181436C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.44260455A>C | CA364301638 | NFKBIE,POLR1C | c.776T>G (p.Val259Gly) c.1193T>G (p.Val398Gly) c.1190T>G (p.Val397Gly) c.946-181435A>C (n.946-181435A>C) | |
| 6 | g.44260455A>G | CA364301640 | NFKBIE,POLR1C | c.776T>C (p.Val259Ala) c.1193T>C (p.Val398Ala) c.1190T>C (p.Val397Ala) c.946-181435A>G (n.946-181435A>G) | |
| 6 | g.44260455A>T | CA364301642 | NFKBIE,POLR1C | c.776T>A (p.Val259Glu) c.1193T>A (p.Val398Glu) c.1190T>A (p.Val397Glu) c.946-181435A>T (n.946-181435A>T) | |
| 6 | g.44260456C>A | CA364301644 | NFKBIE,POLR1C | c.775G>T (p.Val259Leu) c.1192G>T (p.Val398Leu) c.1189G>T (p.Val397Leu) c.946-181434C>A (n.946-181434C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.44260456C= | CA1624897535 | NFKBIE,POLR1C | c.775G= (p.Val259=) c.1192G= (p.Val398=) c.1189G= (p.Val397=) c.946-181434C= (n.946-181434C=) | |
| 6 | g.44260456C>G | CA364301646 | NFKBIE,POLR1C | c.775G>C (p.Val259Leu) c.1192G>C (p.Val398Leu) c.1189G>C (p.Val397Leu) c.946-181434C>G (n.946-181434C>G) | |
| 6 | g.44260456C>T | CA364301648 | NFKBIE,POLR1C | c.775G>A (p.Val259Met) c.1192G>A (p.Val398Met) c.1189G>A (p.Val397Met) c.946-181434C>T (n.946-181434C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.44260457A>C | CA364301650 | NFKBIE,POLR1C | c.774T>G (p.Asp258Glu) c.1191T>G (p.Asp397Glu) c.1188T>G (p.Asp396Glu) c.946-181433A>C (n.946-181433A>C) | |
| 6 | g.44260457A>G | CA450311351 | NFKBIE,POLR1C | c.774T>C (p.Asp258=) c.1191T>C (p.Asp397=) c.1188T>C (p.Asp396=) c.946-181433A>G (n.946-181433A>G) | gnomAD v4 |
| 6 | g.44260457A>T | CA364301652 | NFKBIE,POLR1C | c.774T>A (p.Asp258Glu) c.1191T>A (p.Asp397Glu) c.1188T>A (p.Asp396Glu) c.946-181433A>T (n.946-181433A>T) | |
| 6 | g.44260458T>A | CA364301656 | NFKBIE,POLR1C | c.773A>T (p.Asp258Val) c.1190A>T (p.Asp397Val) c.1187A>T (p.Asp396Val) c.946-181432T>A (n.946-181432T>A) | |
| 6 | g.44260458T>C | CA364301658 | NFKBIE,POLR1C | c.773A>G (p.Asp258Gly) c.1190A>G (p.Asp397Gly) c.1187A>G (p.Asp396Gly) c.946-181432T>C (n.946-181432T>C) | |
| 6 | g.44260458T>G | CA364301654 | NFKBIE,POLR1C | c.773A>C (p.Asp258Ala) c.1190A>C (p.Asp397Ala) c.1187A>C (p.Asp396Ala) c.946-181432T>G (n.946-181432T>G) | |
| 6 | g.44260459C>A | CA364301664 | NFKBIE,POLR1C | c.772G>T (p.Asp258Tyr) c.1189G>T (p.Asp397Tyr) c.1186G>T (p.Asp396Tyr) c.946-181431C>A (n.946-181431C>A) | |
| 6 | g.44260459C>G | CA364301660 | NFKBIE,POLR1C | c.772G>C (p.Asp258His) c.1189G>C (p.Asp397His) c.1186G>C (p.Asp396His) c.946-181431C>G (n.946-181431C>G) | |
| 6 | g.44260459C>T | CA364301662 | NFKBIE,POLR1C | c.772G>A (p.Asp258Asn) c.1189G>A (p.Asp397Asn) c.1186G>A (p.Asp396Asn) c.946-181431C>T (n.946-181431C>T) | |
| 6 | g.44260460A>C | CA364301666 | NFKBIE,POLR1C | c.771T>G (p.Ile257Met) c.1188T>G (p.Ile396Met) c.1185T>G (p.Ile395Met) c.946-181430A>C (n.946-181430A>C) | |
| 6 | g.44260460A>G | CA450311352 | NFKBIE,POLR1C | c.771T>C (p.Ile257=) c.1188T>C (p.Ile396=) c.1185T>C (p.Ile395=) c.946-181430A>G (n.946-181430A>G) | |
| 6 | g.44260460A>T | CA450311353 | NFKBIE,POLR1C | c.771T>A (p.Ile257=) c.1188T>A (p.Ile396=) c.1185T>A (p.Ile395=) c.946-181430A>T (n.946-181430A>T) | |
| 6 | g.44260461A= | CA1624897543 | NFKBIE,POLR1C | c.770T= (p.Ile257=) c.1187T= (p.Ile396=) c.1184T= (p.Ile395=) c.946-181429A= (n.946-181429A=) | |
| 6 | g.44260461A>C | CA364301669 | NFKBIE,POLR1C | c.770T>G (p.Ile257Ser) c.1187T>G (p.Ile396Ser) c.1184T>G (p.Ile395Ser) c.946-181429A>C (n.946-181429A>C) | |
| 6 | g.44260461A>G | CA364301670 | NFKBIE,POLR1C | c.770T>C (p.Ile257Thr) c.1187T>C (p.Ile396Thr) c.1184T>C (p.Ile395Thr) c.946-181429A>G (n.946-181429A>G) | dbSNP |
| 6 | g.44260461A>T | CA364301672 | NFKBIE,POLR1C | c.770T>A (p.Ile257Asn) c.1187T>A (p.Ile396Asn) c.1184T>A (p.Ile395Asn) c.946-181429A>T (n.946-181429A>T) | |
| 6 | g.44260462T>A | CA364301675 | NFKBIE,POLR1C | c.769A>T (p.Ile257Phe) c.1186A>T (p.Ile396Phe) c.1183A>T (p.Ile395Phe) c.946-181428T>A (n.946-181428T>A) | |
| 6 | g.44260462T>C | CA364301676 | NFKBIE,POLR1C | c.769A>G (p.Ile257Val) c.1186A>G (p.Ile396Val) c.1183A>G (p.Ile395Val) c.946-181428T>C (n.946-181428T>C) | dbSNP gnomAD v2 |
| 6 | g.44260462T>G | CA364301677 | NFKBIE,POLR1C | c.769A>C (p.Ile257Leu) c.1186A>C (p.Ile396Leu) c.1183A>C (p.Ile395Leu) c.946-181428T>G (n.946-181428T>G) | |
| 6 | g.44260462T= | CA1624897548 | NFKBIE,POLR1C | c.769A= (p.Ile257=) c.1186A= (p.Ile396=) c.1183A= (p.Ile395=) c.946-181428T= (n.946-181428T=) | |
| 6 | g.44260463G>A | CA450311354 | NFKBIE,POLR1C | c.768C>T (p.Asp256=) c.1185C>T (p.Asp395=) c.1182C>T (p.Asp394=) c.946-181427G>A (n.946-181427G>A) | |
| 6 | g.44260463G>C | CA364301680 | NFKBIE,POLR1C | c.768C>G (p.Asp256Glu) c.1185C>G (p.Asp395Glu) c.1182C>G (p.Asp394Glu) c.946-181427G>C (n.946-181427G>C) | |
| 6 | g.44260463G>T | CA364301682 | NFKBIE,POLR1C | c.768C>A (p.Asp256Glu) c.1185C>A (p.Asp395Glu) c.1182C>A (p.Asp394Glu) c.946-181427G>T (n.946-181427G>T) | |
| 6 | g.44260464T>A | CA364301687 | NFKBIE,POLR1C | c.767A>T (p.Asp256Val) c.1184A>T (p.Asp395Val) c.1181A>T (p.Asp394Val) c.946-181426T>A (n.946-181426T>A) | |
| 6 | g.44260464T>C | CA364301686 | NFKBIE,POLR1C | c.767A>G (p.Asp256Gly) c.1184A>G (p.Asp395Gly) c.1181A>G (p.Asp394Gly) c.946-181426T>C (n.946-181426T>C) | |
| 6 | g.44260464T>G | CA364301684 | NFKBIE,POLR1C | c.767A>C (p.Asp256Ala) c.1184A>C (p.Asp395Ala) c.1181A>C (p.Asp394Ala) c.946-181426T>G (n.946-181426T>G) | |
| 6 | g.44260465C>A | CA364301689 | NFKBIE,POLR1C | c.766G>T (p.Asp256Tyr) c.1183G>T (p.Asp395Tyr) c.1180G>T (p.Asp394Tyr) c.946-181425C>A (n.946-181425C>A) | |
| 6 | g.44260465C>G | CA364301691 | NFKBIE,POLR1C | c.766G>C (p.Asp256His) c.1183G>C (p.Asp395His) c.1180G>C (p.Asp394His) c.946-181425C>G (n.946-181425C>G) | |
| 6 | g.44260465C>T | CA364301692 | NFKBIE,POLR1C | c.766G>A (p.Asp256Asn) c.1183G>A (p.Asp395Asn) c.1180G>A (p.Asp394Asn) c.946-181425C>T (n.946-181425C>T) | |
| 6 | g.44260466A>C | CA450311355 | NFKBIE,POLR1C | c.765T>G (p.Ala255=) c.1182T>G (p.Ala394=) c.1179T>G (p.Ala393=) c.946-181424A>C (n.946-181424A>C) | |
| 6 | g.44260466A>G | CA450311356 | NFKBIE,POLR1C | c.765T>C (p.Ala255=) c.1182T>C (p.Ala394=) c.1179T>C (p.Ala393=) c.946-181424A>G (n.946-181424A>G) | gnomAD v4 |
| 6 | g.44260466A>T | CA450311357 | NFKBIE,POLR1C | c.765T>A (p.Ala255=) c.1182T>A (p.Ala394=) c.1179T>A (p.Ala393=) c.946-181424A>T (n.946-181424A>T) | |
| 6 | g.44260467G>A | CA3833079 | NFKBIE,POLR1C | c.764C>T (p.Ala255Val) c.1181C>T (p.Ala394Val) c.1178C>T (p.Ala393Val) c.946-181423G>A (n.946-181423G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44260467G>C | CA364301695 | NFKBIE,POLR1C | c.764C>G (p.Ala255Gly) c.1181C>G (p.Ala394Gly) c.1178C>G (p.Ala393Gly) c.946-181423G>C (n.946-181423G>C) | |
| 6 | g.44260467G= | CA1624897564 | NFKBIE,POLR1C | c.764C= (p.Ala255=) c.1181C= (p.Ala394=) c.1178C= (p.Ala393=) c.946-181423G= (n.946-181423G=) | |
| 6 | g.44260467G>T | CA364301697 | NFKBIE,POLR1C | c.764C>A (p.Ala255Asp) c.1181C>A (p.Ala394Asp) c.1178C>A (p.Ala393Asp) c.946-181423G>T (n.946-181423G>T) | |
| 6 | g.44260468C>A | CA364301699 | NFKBIE,POLR1C | c.763G>T (p.Ala255Ser) c.1180G>T (p.Ala394Ser) c.1177G>T (p.Ala393Ser) c.946-181422C>A (n.946-181422C>A) | |
| 6 | g.44260468C>G | CA364301701 | NFKBIE,POLR1C | c.763G>C (p.Ala255Pro) c.1180G>C (p.Ala394Pro) c.1177G>C (p.Ala393Pro) c.946-181422C>G (n.946-181422C>G) | |
| 6 | g.44260468C>T | CA364301702 | NFKBIE,POLR1C | c.763G>A (p.Ala255Thr) c.1180G>A (p.Ala394Thr) c.1177G>A (p.Ala393Thr) c.946-181422C>T (n.946-181422C>T) | COSMIC |
| 6 | g.44260469T>A | CA450311358 | NFKBIE,POLR1C | c.762A>T (p.Gly254=) c.1179A>T (p.Gly393=) c.1176A>T (p.Gly392=) c.946-181421T>A (n.946-181421T>A) | |
| 6 | g.44260469T>C | CA450311359 | NFKBIE,POLR1C | c.762A>G (p.Gly254=) c.1179A>G (p.Gly393=) c.1176A>G (p.Gly392=) c.946-181421T>C (n.946-181421T>C) | |
| 6 | g.44260469T>G | CA450311360 | NFKBIE,POLR1C | c.762A>C (p.Gly254=) c.1179A>C (p.Gly393=) c.1176A>C (p.Gly392=) c.946-181421T>G (n.946-181421T>G) | |
| 6 | g.44260470C>A | CA364301704 | NFKBIE,POLR1C | c.761G>T (p.Gly254Val) c.1178G>T (p.Gly393Val) c.1175G>T (p.Gly392Val) c.946-181420C>A (n.946-181420C>A) | |
| 6 | g.44260470C>G | CA364301706 | NFKBIE,POLR1C | c.761G>C (p.Gly254Ala) c.1178G>C (p.Gly393Ala) c.1175G>C (p.Gly392Ala) c.946-181420C>G (n.946-181420C>G) | |
| 6 | g.44260470C>T | CA364301708 | NFKBIE,POLR1C | c.761G>A (p.Gly254Glu) c.1178G>A (p.Gly393Glu) c.1175G>A (p.Gly392Glu) c.946-181420C>T (n.946-181420C>T) | |
| 6 | g.44260471C>A | CA364301712 | NFKBIE,POLR1C | c.760G>T (p.Gly254Ter) c.1177G>T (p.Gly393Ter) c.1174G>T (p.Gly392Ter) c.946-181419C>A (n.946-181419C>A) | |
| 6 | g.44260471C>G | CA364301714 | NFKBIE,POLR1C | c.760G>C (p.Gly254Arg) c.1177G>C (p.Gly393Arg) c.1174G>C (p.Gly392Arg) c.946-181419C>G (n.946-181419C>G) | |
| 6 | g.44260471C>T | CA364301711 | NFKBIE,POLR1C | c.760G>A (p.Gly254Arg) c.1177G>A (p.Gly393Arg) c.1174G>A (p.Gly392Arg) c.946-181419C>T (n.946-181419C>T) | |
| 6 | g.44260472A= | CA1624897572 | NFKBIE,POLR1C | c.759T= (p.Asn253=) c.1176T= (p.Asn392=) c.1173T= (p.Asn391=) c.946-181418A= (n.946-181418A=) | |
| 6 | g.44260472A>C | CA364301717 | NFKBIE,POLR1C | c.759T>G (p.Asn253Lys) c.1176T>G (p.Asn392Lys) c.1173T>G (p.Asn391Lys) c.946-181418A>C (n.946-181418A>C) | dbSNP |
| 6 | g.44260472A>G | CA3833080 | NFKBIE,POLR1C | c.759T>C (p.Asn253=) c.1176T>C (p.Asn392=) c.1173T>C (p.Asn391=) c.946-181418A>G (n.946-181418A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44260472A>T | CA364301719 | NFKBIE,POLR1C | c.759T>A (p.Asn253Lys) c.1176T>A (p.Asn392Lys) c.1173T>A (p.Asn391Lys) c.946-181418A>T (n.946-181418A>T) | |
| 6 | g.44260473T>A | CA364301722 | NFKBIE,POLR1C | c.758A>T (p.Asn253Ile) c.1175A>T (p.Asn392Ile) c.1172A>T (p.Asn391Ile) c.946-181417T>A (n.946-181417T>A) | |
| 6 | g.44260473T>C | CA3833081 | NFKBIE,POLR1C | c.758A>G (p.Asn253Ser) c.1175A>G (p.Asn392Ser) c.1172A>G (p.Asn391Ser) c.946-181417T>C (n.946-181417T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.44260473T>G | CA364301724 | NFKBIE,POLR1C | c.758A>C (p.Asn253Thr) c.1175A>C (p.Asn392Thr) c.1172A>C (p.Asn391Thr) c.946-181417T>G (n.946-181417T>G) | |
| 6 | g.44260473T= | CA1624897578 | NFKBIE,POLR1C | c.758A= (p.Asn253=) c.1175A= (p.Asn392=) c.1172A= (p.Asn391=) c.946-181417T= (n.946-181417T=) | |
| 6 | g.44260474T>A | CA364301731 | NFKBIE,POLR1C | c.757A>T (p.Asn253Tyr) c.1174A>T (p.Asn392Tyr) c.*228A>T (n.*228A>T) c.1171A>T (p.Asn391Tyr) c.946-181416T>A (n.946-181416T>A) | |
| 6 | g.44260474T>C | CA364301727 | NFKBIE,POLR1C | c.757A>G (p.Asn253Asp) c.1174A>G (p.Asn392Asp) c.*228A>G (n.*228A>G) c.1171A>G (p.Asn391Asp) c.946-181416T>C (n.946-181416T>C) | |
| 6 | g.44260474T>G | CA364301729 | NFKBIE,POLR1C | c.757A>C (p.Asn253His) c.1174A>C (p.Asn392His) c.*228A>C (n.*228A>C) c.1171A>C (p.Asn391His) c.946-181416T>G (n.946-181416T>G) | |
| 6 | g.44260475C>A | CA450311361 | NFKBIE,POLR1C | c.756G>T (p.Arg252=) c.1173G>T (p.Arg391=) c.*227G>T (n.*227G>T) c.1170G>T (p.Arg390=) c.946-181415C>A (n.946-181415C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.44260475C= | CA1624897589 | NFKBIE,POLR1C | c.756G= (p.Arg252=) c.1173G= (p.Arg391=) c.*227G= (n.*227G=) c.1170G= (p.Arg390=) c.946-181415C= (n.946-181415C=) | |
| 6 | g.44260475C>G | CA450311362 | NFKBIE,POLR1C | c.756G>C (p.Arg252=) c.1173G>C (p.Arg391=) c.*227G>C (n.*227G>C) c.1170G>C (p.Arg390=) c.946-181415C>G (n.946-181415C>G) | |
| 6 | g.44260475C>T | CA450311363 | NFKBIE,POLR1C | c.756G>A (p.Arg252=) c.1173G>A (p.Arg391=) c.*227G>A (n.*227G>A) c.1170G>A (p.Arg390=) c.946-181415C>T (n.946-181415C>T) | |
| 6 | g.44260476C>A | CA364301733 | NFKBIE,POLR1C | c.755G>T (p.Arg252Leu) c.1172G>T (p.Arg391Leu) c.*226G>T (n.*226G>T) c.1169G>T (p.Arg390Leu) c.946-181414C>A (n.946-181414C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44260476C= | CA1624897597 | NFKBIE,POLR1C | c.755G= (p.Arg252=) c.1172G= (p.Arg391=) c.*226G= (n.*226G=) c.1169G= (p.Arg390=) c.946-181414C= (n.946-181414C=) | |
| 6 | g.44260476C>G | CA364301735 | NFKBIE,POLR1C | c.755G>C (p.Arg252Pro) c.1172G>C (p.Arg391Pro) c.*226G>C (n.*226G>C) c.1169G>C (p.Arg390Pro) c.946-181414C>G (n.946-181414C>G) | |
| 6 | g.44260476C>T | CA3833082 | NFKBIE,POLR1C | c.755G>A (p.Arg252Gln) c.1172G>A (p.Arg391Gln) c.*226G>A (n.*226G>A) c.1169G>A (p.Arg390Gln) c.946-181414C>T (n.946-181414C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.44260477G>A | CA364301738 | NFKBIE,POLR1C | c.754C>T (p.Arg252Trp) c.1171C>T (p.Arg391Trp) c.*225C>T (n.*225C>T) c.1168C>T (p.Arg390Trp) c.946-181413G>A (n.946-181413G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.44260477G>C | CA364301740 | NFKBIE,POLR1C | c.754C>G (p.Arg252Gly) c.1171C>G (p.Arg391Gly) c.*225C>G (n.*225C>G) c.1168C>G (p.Arg390Gly) c.946-181413G>C (n.946-181413G>C) | |
| 6 | g.44260477G= | CA1624897611 | NFKBIE,POLR1C | c.754C= (p.Arg252=) c.1171C= (p.Arg391=) c.*225C= (n.*225C=) c.1168C= (p.Arg390=) c.946-181413G= (n.946-181413G=) | |
| 6 | g.44260477G>T | CA450311364 | NFKBIE,POLR1C | c.754C>A (p.Arg252=) c.1171C>A (p.Arg391=) c.*225C>A (n.*225C>A) c.1168C>A (p.Arg390=) c.946-181413G>T (n.946-181413G>T) | |
| 6 | g.44260478A= | CA1624897615 | NFKBIE,POLR1C | c.753T= (p.Leu251=) c.1170T= (p.Leu390=) c.*224T= (n.*224T=) c.1167T= (p.Leu389=) c.946-181412A= (n.946-181412A=) | |
| 6 | g.44260478A>C | CA450311365 | NFKBIE,POLR1C | c.753T>G (p.Leu251=) c.1170T>G (p.Leu390=) c.*224T>G (n.*224T>G) c.1167T>G (p.Leu389=) c.946-181412A>C (n.946-181412A>C) | |
| 6 | g.44260478A>G | CA450311366 | NFKBIE,POLR1C | c.753T>C (p.Leu251=) c.1170T>C (p.Leu390=) c.*224T>C (n.*224T>C) c.1167T>C (p.Leu389=) c.946-181412A>G (n.946-181412A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.44260478A>T | CA450311367 | NFKBIE,POLR1C | c.753T>A (p.Leu251=) c.1170T>A (p.Leu390=) c.*224T>A (n.*224T>A) c.1167T>A (p.Leu389=) c.946-181412A>T (n.946-181412A>T) | |
| 6 | g.44260479A>C | CA364301743 | NFKBIE,POLR1C | c.752T>G (p.Leu251Arg) c.1169T>G (p.Leu390Arg) c.*223T>G (n.*223T>G) c.1166T>G (p.Leu389Arg) c.946-181411A>C (n.946-181411A>C) | |
| 6 | g.44260479A>G | CA364301745 | NFKBIE,POLR1C | c.752T>C (p.Leu251Pro) c.1169T>C (p.Leu390Pro) c.*223T>C (n.*223T>C) c.1166T>C (p.Leu389Pro) c.946-181411A>G (n.946-181411A>G) | |
| 6 | g.44260479A>T | CA364301744 | NFKBIE,POLR1C | c.752T>A (p.Leu251His) c.1169T>A (p.Leu390His) c.*223T>A (n.*223T>A) c.1166T>A (p.Leu389His) c.946-181411A>T (n.946-181411A>T) | |
| 6 | g.44260480G>A | CA364301747 | NFKBIE,POLR1C | c.751C>T (p.Leu251Phe) c.1168C>T (p.Leu390Phe) c.*222C>T (n.*222C>T) c.1165C>T (p.Leu389Phe) c.946-181410G>A (n.946-181410G>A) | COSMIC |
| 6 | g.44260480G>C | CA364301748 | NFKBIE,POLR1C | c.751C>G (p.Leu251Val) c.1168C>G (p.Leu390Val) c.*222C>G (n.*222C>G) c.1165C>G (p.Leu389Val) c.946-181410G>C (n.946-181410G>C) | |
| 6 | g.44260480G>T | CA364301750 | NFKBIE,POLR1C | c.751C>A (p.Leu251Ile) c.1168C>A (p.Leu390Ile) c.*222C>A (n.*222C>A) c.1165C>A (p.Leu389Ile) c.946-181410G>T (n.946-181410G>T) | |
| 6 | g.44260481C>A | CA450311369 | NFKBIE,POLR1C | c.750G>T (p.Leu250=) c.1167G>T (p.Leu389=) c.*221G>T (n.*221G>T) c.1164G>T (p.Leu388=) c.946-181409C>A (n.946-181409C>A) | |
| 6 | g.44260481C>G | CA450311370 | NFKBIE,POLR1C | c.750G>C (p.Leu250=) c.1167G>C (p.Leu389=) c.*221G>C (n.*221G>C) c.1164G>C (p.Leu388=) c.946-181409C>G (n.946-181409C>G) | |
| 6 | g.44260481C>T | CA450311368 | NFKBIE,POLR1C | c.750G>A (p.Leu250=) c.1167G>A (p.Leu389=) c.*221G>A (n.*221G>A) c.1164G>A (p.Leu388=) c.946-181409C>T (n.946-181409C>T) | gnomAD v4 |
| 6 | g.44260482A>C | CA364301752 | NFKBIE,POLR1C | c.749T>G (p.Leu250Arg) c.1166T>G (p.Leu389Arg) c.*220T>G (n.*220T>G) c.1163T>G (p.Leu388Arg) c.946-181408A>C (n.946-181408A>C) | |
| 6 | g.44260482A>G | CA364301754 | NFKBIE,POLR1C | c.749T>C (p.Leu250Pro) c.1166T>C (p.Leu389Pro) c.*220T>C (n.*220T>C) c.1163T>C (p.Leu388Pro) c.946-181408A>G (n.946-181408A>G) | |
| 6 | g.44260482A>T | CA364301756 | NFKBIE,POLR1C | c.749T>A (p.Leu250Gln) c.1166T>A (p.Leu389Gln) c.*220T>A (n.*220T>A) c.1163T>A (p.Leu388Gln) c.946-181408A>T (n.946-181408A>T) | |
| 6 | g.44260483G>A | CA450311371 | NFKBIE,POLR1C | c.748C>T (p.Leu250=) c.1165C>T (p.Leu389=) c.*219C>T (n.*219C>T) c.1162C>T (p.Leu388=) c.946-181407G>A (n.946-181407G>A) | |
| 6 | g.44260483G>C | CA364301758 | NFKBIE,POLR1C | c.748C>G (p.Leu250Val) c.1165C>G (p.Leu389Val) c.*219C>G (n.*219C>G) c.1162C>G (p.Leu388Val) c.946-181407G>C (n.946-181407G>C) | |
| 6 | g.44260483G>T | CA364301760 | NFKBIE,POLR1C | c.748C>A (p.Leu250Met) c.1165C>A (p.Leu389Met) c.*219C>A (n.*219C>A) c.1162C>A (p.Leu388Met) c.946-181407G>T (n.946-181407G>T) | |
| 6 | g.44260484C>A | CA364301762 | NFKBIE,POLR1C | c.747G>T (p.Leu249Phe) c.1164G>T (p.Leu388Phe) c.*218G>T (n.*218G>T) c.1161G>T (p.Leu387Phe) c.946-181406C>A (n.946-181406C>A) | |
| 6 | g.44260484C>G | CA364301764 | NFKBIE,POLR1C | c.747G>C (p.Leu249Phe) c.1164G>C (p.Leu388Phe) c.*218G>C (n.*218G>C) c.1161G>C (p.Leu387Phe) c.946-181406C>G (n.946-181406C>G) | |
| 6 | g.44260484C>T | CA450311372 | NFKBIE,POLR1C | c.747G>A (p.Leu249=) c.1164G>A (p.Leu388=) c.*218G>A (n.*218G>A) c.1161G>A (p.Leu387=) c.946-181406C>T (n.946-181406C>T) | |
| 6 | g.44260485A>C | CA364301766 | NFKBIE,POLR1C | c.746T>G (p.Leu249Trp) c.1163T>G (p.Leu388Trp) c.*217T>G (n.*217T>G) c.1160T>G (p.Leu387Trp) c.946-181405A>C (n.946-181405A>C) | |
| 6 | g.44260485A>G | CA364301767 | NFKBIE,POLR1C | c.746T>C (p.Leu249Ser) c.1163T>C (p.Leu388Ser) c.*217T>C (n.*217T>C) c.1160T>C (p.Leu387Ser) c.946-181405A>G (n.946-181405A>G) | |
| 6 | g.44260485A>T | CA364301769 | NFKBIE,POLR1C | c.746T>A (p.Leu249Ter) c.1163T>A (p.Leu388Ter) c.*217T>A (n.*217T>A) c.1160T>A (p.Leu387Ter) c.946-181405A>T (n.946-181405A>T) | |
| 6 | g.44260486A>C | CA364301771 | NFKBIE,POLR1C | c.745T>G (p.Leu249Val) c.1162T>G (p.Leu388Val) c.*216T>G (n.*216T>G) c.1159T>G (p.Leu387Val) c.946-181404A>C (n.946-181404A>C) | gnomAD v4 |
| 6 | g.44260486A>G | CA450311373 | NFKBIE,POLR1C | c.745T>C (p.Leu249=) c.1162T>C (p.Leu388=) c.*216T>C (n.*216T>C) c.1159T>C (p.Leu387=) c.946-181404A>G (n.946-181404A>G) | dbSNP |
| 6 | g.44260486A>T | CA364301773 | NFKBIE,POLR1C | c.745T>A (p.Leu249Met) c.1162T>A (p.Leu388Met) c.*216T>A (n.*216T>A) c.1159T>A (p.Leu387Met) c.946-181404A>T (n.946-181404A>T) | |
| 6 | g.44260487T>A | CA364301775 | NFKBIE,POLR1C | c.744A>T (p.Glu248Asp) c.1161A>T (p.Glu387Asp) c.*215A>T (n.*215A>T) c.1158A>T (p.Glu386Asp) c.946-181403T>A (n.946-181403T>A) | |
| 6 | g.44260487T>C | CA450311374 | NFKBIE,POLR1C | c.744A>G (p.Glu248=) c.1161A>G (p.Glu387=) c.*215A>G (n.*215A>G) c.1158A>G (p.Glu386=) c.946-181403T>C (n.946-181403T>C) | |
| 6 | g.44260487T>G | CA364301777 | NFKBIE,POLR1C | c.744A>C (p.Glu248Asp) c.1161A>C (p.Glu387Asp) c.*215A>C (n.*215A>C) c.1158A>C (p.Glu386Asp) c.946-181403T>G (n.946-181403T>G) | |
| 6 | g.44260488T>A | CA364301780 | NFKBIE,POLR1C | c.743A>T (p.Glu248Val) c.1160A>T (p.Glu387Val) c.*214A>T (n.*214A>T) c.1157A>T (p.Glu386Val) c.946-181402T>A (n.946-181402T>A) | |
| 6 | g.44260488T>C | CA364301783 | NFKBIE,POLR1C | c.743A>G (p.Glu248Gly) c.1160A>G (p.Glu387Gly) c.*214A>G (n.*214A>G) c.1157A>G (p.Glu386Gly) c.946-181402T>C (n.946-181402T>C) | gnomAD v4 |
| 6 | g.44260488T>G | CA364301781 | NFKBIE,POLR1C | c.743A>C (p.Glu248Ala) c.1160A>C (p.Glu387Ala) c.*214A>C (n.*214A>C) c.1157A>C (p.Glu386Ala) c.946-181402T>G (n.946-181402T>G) | |
| 6 | g.44260489C>A | CA364301786 | NFKBIE,POLR1C | c.742G>T (p.Glu248Ter) c.1159G>T (p.Glu387Ter) c.*213G>T (n.*213G>T) c.1156G>T (p.Glu386Ter) c.946-181401C>A (n.946-181401C>A) | |
| 6 | g.44260489C= | CA1624897623 | NFKBIE,POLR1C | c.742G= (p.Glu248=) c.1159G= (p.Glu387=) c.*213G= (n.*213G=) c.1156G= (p.Glu386=) c.946-181401C= (n.946-181401C=) | |
| 6 | g.44260489C>G | CA364301787 | NFKBIE,POLR1C | c.742G>C (p.Glu248Gln) c.1159G>C (p.Glu387Gln) c.*213G>C (n.*213G>C) c.1156G>C (p.Glu386Gln) c.946-181401C>G (n.946-181401C>G) | dbSNP |
| 6 | g.44260489C>T | CA364301789 | NFKBIE,POLR1C | c.742G>A (p.Glu248Lys) c.1159G>A (p.Glu387Lys) c.*213G>A (n.*213G>A) c.1156G>A (p.Glu386Lys) c.946-181401C>T (n.946-181401C>T) | |
| 6 | g.44260490C>A | CA364301791 | NFKBIE,POLR1C | c.741G>T (p.Met247Ile) c.1158G>T (p.Met386Ile) c.*212G>T (n.*212G>T) c.1155G>T (p.Met385Ile) c.946-181400C>A (n.946-181400C>A) | |
| 6 | g.44260490C= | CA1624897630 | NFKBIE,POLR1C | c.741G= (p.Met247=) c.1158G= (p.Met386=) c.*212G= (n.*212G=) c.1155G= (p.Met385=) c.946-181400C= (n.946-181400C=) | |
| 6 | g.44260490C>G | CA364301792 | NFKBIE,POLR1C | c.741G>C (p.Met247Ile) c.1158G>C (p.Met386Ile) c.*212G>C (n.*212G>C) c.1155G>C (p.Met385Ile) c.946-181400C>G (n.946-181400C>G) | |
| 6 | g.44260490C>T | CA364301794 | NFKBIE,POLR1C | c.741G>A (p.Met247Ile) c.1158G>A (p.Met386Ile) c.*212G>A (n.*212G>A) c.1155G>A (p.Met385Ile) c.946-181400C>T (n.946-181400C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44260491A>C | CA364301796 | NFKBIE,POLR1C | c.740T>G (p.Met247Arg) c.1157T>G (p.Met386Arg) c.*211T>G (n.*211T>G) c.1154T>G (p.Met385Arg) c.946-181399A>C (n.946-181399A>C) | |
| 6 | g.44260491A>G | CA364301798 | NFKBIE,POLR1C | c.740T>C (p.Met247Thr) c.1157T>C (p.Met386Thr) c.*211T>C (n.*211T>C) c.1154T>C (p.Met385Thr) c.946-181399A>G (n.946-181399A>G) | |
| 6 | g.44260491A>T | CA364301799 | NFKBIE,POLR1C | c.740T>A (p.Met247Lys) c.1157T>A (p.Met386Lys) c.*211T>A (n.*211T>A) c.1154T>A (p.Met385Lys) c.946-181399A>T (n.946-181399A>T) | |
| 6 | g.44260492T>A | CA364301801 | NFKBIE,POLR1C | c.739A>T (p.Met247Leu) c.1156A>T (p.Met386Leu) c.*210A>T (n.*210A>T) c.1153A>T (p.Met385Leu) c.946-181398T>A (n.946-181398T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.44260492T>C | CA364301803 | NFKBIE,POLR1C | c.739A>G (p.Met247Val) c.1156A>G (p.Met386Val) c.*210A>G (n.*210A>G) c.1153A>G (p.Met385Val) c.946-181398T>C (n.946-181398T>C) | |
| 6 | g.44260492T>G | CA364301805 | NFKBIE,POLR1C | c.739A>C (p.Met247Leu) c.1156A>C (p.Met386Leu) c.*210A>C (n.*210A>C) c.1153A>C (p.Met385Leu) c.946-181398T>G (n.946-181398T>G) | |
| 6 | g.44260492T= | CA1624897633 | NFKBIE,POLR1C | c.739A= (p.Met247=) c.1156A= (p.Met386=) c.*210A= (n.*210A=) c.1153A= (p.Met385=) c.946-181398T= (n.946-181398T=) | |
| 6 | g.44260493G>A | CA450311375 | NFKBIE,POLR1C | c.738C>T (p.Leu246=) c.1155C>T (p.Leu385=) c.*209C>T (n.*209C>T) c.1152C>T (p.Leu384=) c.946-181397G>A (n.946-181397G>A) | COSMIC |
| 6 | g.44260493G>C | CA450311376 | NFKBIE,POLR1C | c.738C>G (p.Leu246=) c.1155C>G (p.Leu385=) c.*209C>G (n.*209C>G) c.1152C>G (p.Leu384=) c.946-181397G>C (n.946-181397G>C) | COSMIC |
| 6 | g.44260493G>T | CA450311377 | NFKBIE,POLR1C | c.738C>A (p.Leu246=) c.1155C>A (p.Leu385=) c.*209C>A (n.*209C>A) c.1152C>A (p.Leu384=) c.946-181397G>T (n.946-181397G>T) | |
| 6 | g.44260494A>C | CA364301807 | NFKBIE,POLR1C | c.737T>G (p.Leu246Arg) c.1154T>G (p.Leu385Arg) c.*208T>G (n.*208T>G) c.1151T>G (p.Leu384Arg) c.946-181396A>C (n.946-181396A>C) | COSMIC |
| 6 | g.44260494A>G | CA364301811 | NFKBIE,POLR1C | c.737T>C (p.Leu246Pro) c.1154T>C (p.Leu385Pro) c.*208T>C (n.*208T>C) c.1151T>C (p.Leu384Pro) c.946-181396A>G (n.946-181396A>G) | |
| 6 | g.44260494A>T | CA364301809 | NFKBIE,POLR1C | c.737T>A (p.Leu246His) c.1154T>A (p.Leu385His) c.*208T>A (n.*208T>A) c.1151T>A (p.Leu384His) c.946-181396A>T (n.946-181396A>T) | |
| 6 | g.44260495G>A | CA364301813 | NFKBIE,POLR1C | c.736C>T (p.Leu246Phe) c.1153C>T (p.Leu385Phe) c.*207C>T (n.*207C>T) c.1150C>T (p.Leu384Phe) c.946-181395G>A (n.946-181395G>A) | |
| 6 | g.44260495G>C | CA364301815 | NFKBIE,POLR1C | c.736C>G (p.Leu246Val) c.1153C>G (p.Leu385Val) c.*207C>G (n.*207C>G) c.1150C>G (p.Leu384Val) c.946-181395G>C (n.946-181395G>C) | |
| 6 | g.44260495G>T | CA364301817 | NFKBIE,POLR1C | c.736C>A (p.Leu246Ile) c.1153C>A (p.Leu385Ile) c.*207C>A (n.*207C>A) c.1150C>A (p.Leu384Ile) c.946-181395G>T (n.946-181395G>T) | gnomAD v4 |
| 6 | g.44260496T>A | CA450311378 | NFKBIE,POLR1C | c.735A>T (p.Pro245=) c.1152A>T (p.Pro384=) c.*206A>T (n.*206A>T) c.1149A>T (p.Pro383=) c.946-181394T>A (n.946-181394T>A) | |
| 6 | g.44260496T>C | CA450311379 | NFKBIE,POLR1C | c.735A>G (p.Pro245=) c.1152A>G (p.Pro384=) c.*206A>G (n.*206A>G) c.1149A>G (p.Pro383=) c.946-181394T>C (n.946-181394T>C) | |
| 6 | g.44260496T>G | CA450311380 | NFKBIE,POLR1C | c.735A>C (p.Pro245=) c.1152A>C (p.Pro384=) c.*206A>C (n.*206A>C) c.1149A>C (p.Pro383=) c.946-181394T>G (n.946-181394T>G) | |
| 6 | g.44260497G>A | CA364301819 | NFKBIE,POLR1C | c.734C>T (p.Pro245Leu) c.1151C>T (p.Pro384Leu) c.*205C>T (n.*205C>T) c.1148C>T (p.Pro383Leu) c.946-181393G>A (n.946-181393G>A) | |
| 6 | g.44260497G>C | CA364301821 | NFKBIE,POLR1C | c.734C>G (p.Pro245Arg) c.1151C>G (p.Pro384Arg) c.*205C>G (n.*205C>G) c.1148C>G (p.Pro383Arg) c.946-181393G>C (n.946-181393G>C) | |
| 6 | g.44260497G>T | CA364301823 | NFKBIE,POLR1C | c.734C>A (p.Pro245Gln) c.1151C>A (p.Pro384Gln) c.*205C>A (n.*205C>A) c.1148C>A (p.Pro383Gln) c.946-181393G>T (n.946-181393G>T) | |
| 6 | g.44260498G>A | CA3833083 | NFKBIE,POLR1C | c.733C>T (p.Pro245Ser) c.1150C>T (p.Pro384Ser) c.*204C>T (n.*204C>T) c.1147C>T (p.Pro383Ser) c.946-181392G>A (n.946-181392G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.44260498G>C | CA364301825 | NFKBIE,POLR1C | c.733C>G (p.Pro245Ala) c.1150C>G (p.Pro384Ala) c.*204C>G (n.*204C>G) c.1147C>G (p.Pro383Ala) c.946-181392G>C (n.946-181392G>C) | |
| 6 | g.44260498G= | CA1624897637 | NFKBIE,POLR1C | c.733C= (p.Pro245=) c.1150C= (p.Pro384=) c.*204C= (n.*204C=) c.1147C= (p.Pro383=) c.946-181392G= (n.946-181392G=) | |
| 6 | g.44260498G>T | CA364301827 | NFKBIE,POLR1C | c.733C>A (p.Pro245Thr) c.1150C>A (p.Pro384Thr) c.*204C>A (n.*204C>A) c.1147C>A (p.Pro383Thr) c.946-181392G>T (n.946-181392G>T) | |
| 6 | g.44260499T>A | CA364301832 | NFKBIE,POLR1C | c.732A>T (p.Gln244His) c.1149A>T (p.Gln383His) c.*203A>T (n.*203A>T) c.1146A>T (p.Gln382His) c.946-181391T>A (n.946-181391T>A) | |
| 6 | g.44260499T>C | CA3833084 | NFKBIE,POLR1C | c.732A>G (p.Gln244=) c.1149A>G (p.Gln383=) c.*203A>G (n.*203A>G) c.1146A>G (p.Gln382=) c.946-181391T>C (n.946-181391T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.44260499T>G | CA364301830 | NFKBIE,POLR1C | c.732A>C (p.Gln244His) c.1149A>C (p.Gln383His) c.*203A>C (n.*203A>C) c.1146A>C (p.Gln382His) c.946-181391T>G (n.946-181391T>G) | |
| 6 | g.44260499T= | CA1624897643 | NFKBIE,POLR1C | c.732A= (p.Gln244=) c.1149A= (p.Gln383=) c.*203A= (n.*203A=) c.1146A= (p.Gln382=) c.946-181391T= (n.946-181391T=) | |
| 6 | g.44260500T>A | CA364301835 | NFKBIE,POLR1C | c.731A>T (p.Gln244Leu) c.1148A>T (p.Gln383Leu) c.*202A>T (n.*202A>T) c.1145A>T (p.Gln382Leu) c.946-181390T>A (n.946-181390T>A) | |
| 6 | g.44260500T>C | CA364301837 | NFKBIE,POLR1C | c.731A>G (p.Gln244Arg) c.1148A>G (p.Gln383Arg) c.*202A>G (n.*202A>G) c.1145A>G (p.Gln382Arg) c.946-181390T>C (n.946-181390T>C) | |
| 6 | g.44260500T>G | CA364301839 | NFKBIE,POLR1C | c.731A>C (p.Gln244Pro) c.1148A>C (p.Gln383Pro) c.*202A>C (n.*202A>C) c.1145A>C (p.Gln382Pro) c.946-181390T>G (n.946-181390T>G) | |
| 6 | g.44260501G>A | CA364301841 | NFKBIE,POLR1C | c.730C>T (p.Gln244Ter) c.1147C>T (p.Gln383Ter) c.*201C>T (n.*201C>T) c.1144C>T (p.Gln382Ter) c.946-181389G>A (n.946-181389G>A) | |
| 6 | g.44260501G>C | CA364301843 | NFKBIE,POLR1C | c.730C>G (p.Gln244Glu) c.1147C>G (p.Gln383Glu) c.*201C>G (n.*201C>G) c.1144C>G (p.Gln382Glu) c.946-181389G>C (n.946-181389G>C) | |
| 6 | g.44260501G>T | CA364301845 | NFKBIE,POLR1C | c.730C>A (p.Gln244Lys) c.1147C>A (p.Gln383Lys) c.*201C>A (n.*201C>A) c.1144C>A (p.Gln382Lys) c.946-181389G>T (n.946-181389G>T) | |
| 6 | g.44260502dup | CA645544530 | NFKBIE,POLR1C | c.730dup (p.Gln244ProfsTer13) c.1147dup (p.Gln383ProfsTer13) c.*201dup (n.*201dup) c.1144dup (p.Gln382ProfsTer13) c.946-181388dup (n.946-181388dup) | COSMIC |
| 6 | g.44260502G>A | CA450311381 | NFKBIE,POLR1C | c.729C>T (p.Asn243=) c.1146C>T (p.Asn382=) c.*200C>T (n.*200C>T) c.1143C>T (p.Asn381=) c.946-181388G>A (n.946-181388G>A) | |
| 6 | g.44260502G>C | CA364301849 | NFKBIE,POLR1C | c.729C>G (p.Asn243Lys) c.1146C>G (p.Asn382Lys) c.*200C>G (n.*200C>G) c.1143C>G (p.Asn381Lys) c.946-181388G>C (n.946-181388G>C) | |
| 6 | g.44260502G>T | CA364301847 | NFKBIE,POLR1C | c.729C>A (p.Asn243Lys) c.1146C>A (p.Asn382Lys) c.*200C>A (n.*200C>A) c.1143C>A (p.Asn381Lys) c.946-181388G>T (n.946-181388G>T) | |
| 6 | g.44260503T>A | CA364301851 | NFKBIE,POLR1C | c.728A>T (p.Asn243Ile) c.1145A>T (p.Asn382Ile) c.*199A>T (n.*199A>T) c.1142A>T (p.Asn381Ile) c.946-181387T>A (n.946-181387T>A) | |
| 6 | g.44260503T>C | CA364301853 | NFKBIE,POLR1C | c.728A>G (p.Asn243Ser) c.1145A>G (p.Asn382Ser) c.*199A>G (n.*199A>G) c.1142A>G (p.Asn381Ser) c.946-181387T>C (n.946-181387T>C) | |
| 6 | g.44260503T>G | CA364301855 | NFKBIE,POLR1C | c.728A>C (p.Asn243Thr) c.1145A>C (p.Asn382Thr) c.*199A>C (n.*199A>C) c.1142A>C (p.Asn381Thr) c.946-181387T>G (n.946-181387T>G) | |
| 6 | g.44260504T>A | CA364301857 | NFKBIE,POLR1C | c.727A>T (p.Asn243Tyr) c.1144A>T (p.Asn382Tyr) c.*198A>T (n.*198A>T) c.1141A>T (p.Asn381Tyr) c.946-181386T>A (n.946-181386T>A) | |
| 6 | g.44260504T>C | CA364301859 | NFKBIE,POLR1C | c.727A>G (p.Asn243Asp) c.1144A>G (p.Asn382Asp) c.*198A>G (n.*198A>G) c.1141A>G (p.Asn381Asp) c.946-181386T>C (n.946-181386T>C) | |
| 6 | g.44260504T>G | CA364301861 | NFKBIE,POLR1C | c.727A>C (p.Asn243His) c.1144A>C (p.Asn382His) c.*198A>C (n.*198A>C) c.1141A>C (p.Asn381His) c.946-181386T>G (n.946-181386T>G) | gnomAD v4 |
| 6 | g.44260505C>A | CA364301863 | NFKBIE,POLR1C | c.726G>T (p.Lys242Asn) c.1143G>T (p.Lys381Asn) c.*197G>T (n.*197G>T) c.1140G>T (p.Lys380Asn) c.946-181385C>A (n.946-181385C>A) | |
| 6 | g.44260505C= | CA1624897653 | NFKBIE,POLR1C | c.726G= (p.Lys242=) c.1143G= (p.Lys381=) c.*197G= (n.*197G=) c.1140G= (p.Lys380=) c.946-181385C= (n.946-181385C=) | |
| 6 | g.44260505C>G | CA364301865 | NFKBIE,POLR1C | c.726G>C (p.Lys242Asn) c.1143G>C (p.Lys381Asn) c.*197G>C (n.*197G>C) c.1140G>C (p.Lys380Asn) c.946-181385C>G (n.946-181385C>G) | |
| 6 | g.44260505C>T | CA3833085 | NFKBIE,POLR1C | c.726G>A (p.Lys242=) c.1143G>A (p.Lys381=) c.*197G>A (n.*197G>A) c.1140G>A (p.Lys380=) c.946-181385C>T (n.946-181385C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.44260506T>A | CA364301868 | NFKBIE,POLR1C | c.725A>T (p.Lys242Met) c.1142A>T (p.Lys381Met) c.*196A>T (n.*196A>T) c.1139A>T (p.Lys380Met) c.946-181384T>A (n.946-181384T>A) | |
| 6 | g.44260506T>C | CA364301870 | NFKBIE,POLR1C | c.725A>G (p.Lys242Arg) c.1142A>G (p.Lys381Arg) c.*196A>G (n.*196A>G) c.1139A>G (p.Lys380Arg) c.946-181384T>C (n.946-181384T>C) | |
| 6 | g.44260506T>G | CA364301871 | NFKBIE,POLR1C | c.725A>C (p.Lys242Thr) c.1142A>C (p.Lys381Thr) c.*196A>C (n.*196A>C) c.1139A>C (p.Lys380Thr) c.946-181384T>G (n.946-181384T>G) | |
| 6 | g.44260507T>A | CA364301873 | NFKBIE,POLR1C | c.724A>T (p.Lys242Ter) c.1141A>T (p.Lys381Ter) c.*195A>T (n.*195A>T) c.1138A>T (p.Lys380Ter) c.946-181383T>A (n.946-181383T>A) | |
| 6 | g.44260507T>C | CA364301875 | NFKBIE,POLR1C | c.724A>G (p.Lys242Glu) c.1141A>G (p.Lys381Glu) c.*195A>G (n.*195A>G) c.1138A>G (p.Lys380Glu) c.946-181383T>C (n.946-181383T>C) | |
| 6 | g.44260507T>G | CA364301877 | NFKBIE,POLR1C | c.724A>C (p.Lys242Gln) c.1141A>C (p.Lys381Gln) c.*195A>C (n.*195A>C) c.1138A>C (p.Lys380Gln) c.946-181383T>G (n.946-181383T>G) | |
| 6 | g.44260508C>A | CA364301879 | NFKBIE,POLR1C | c.723G>T (p.Gln241His) c.1140G>T (p.Gln380His) c.*194G>T (n.*194G>T) c.1137G>T (p.Gln379His) c.946-181382C>A (n.946-181382C>A) | gnomAD v4 |
| 6 | g.44260508C= | CA1624897662 | NFKBIE,POLR1C | c.723G= (p.Gln241=) c.1140G= (p.Gln380=) c.*194G= (n.*194G=) c.1137G= (p.Gln379=) c.946-181382C= (n.946-181382C=) | |
| 6 | g.44260508C>G | CA364301881 | NFKBIE,POLR1C | c.723G>C (p.Gln241His) c.1140G>C (p.Gln380His) c.*194G>C (n.*194G>C) c.1137G>C (p.Gln379His) c.946-181382C>G (n.946-181382C>G) | |
| 6 | g.44260508C>T | CA450311382 | NFKBIE,POLR1C | c.723G>A (p.Gln241=) c.1140G>A (p.Gln380=) c.*194G>A (n.*194G>A) c.1137G>A (p.Gln379=) c.946-181382C>T (n.946-181382C>T) | dbSNP gnomAD v4 |
| 6 | g.44260509T>A | CA364301883 | NFKBIE,POLR1C | c.722A>T (p.Gln241Leu) c.1139A>T (p.Gln380Leu) c.*193A>T (n.*193A>T) c.1136A>T (p.Gln379Leu) c.946-181381T>A (n.946-181381T>A) | |
| 6 | g.44260509T>C | CA364301886 | NFKBIE,POLR1C | c.722A>G (p.Gln241Arg) c.1139A>G (p.Gln380Arg) c.*193A>G (n.*193A>G) c.1136A>G (p.Gln379Arg) c.946-181381T>C (n.946-181381T>C) | |
| 6 | g.44260509T>G | CA364301888 | NFKBIE,POLR1C | c.722A>C (p.Gln241Pro) c.1139A>C (p.Gln380Pro) c.*193A>C (n.*193A>C) c.1136A>C (p.Gln379Pro) c.946-181381T>G (n.946-181381T>G) | |
| 6 | g.44260510G>A | CA364301893 | NFKBIE,POLR1C | c.721C>T (p.Gln241Ter) c.1138C>T (p.Gln380Ter) c.*192C>T (n.*192C>T) c.1135C>T (p.Gln379Ter) c.946-181380G>A (n.946-181380G>A) | COSMIC |
| 6 | g.44260510G>C | CA364301892 | NFKBIE,POLR1C | c.721C>G (p.Gln241Glu) c.1138C>G (p.Gln380Glu) c.*192C>G (n.*192C>G) c.1135C>G (p.Gln379Glu) c.946-181380G>C (n.946-181380G>C) | |
| 6 | g.44260510G>T | CA364301891 | NFKBIE,POLR1C | c.721C>A (p.Gln241Lys) c.1138C>A (p.Gln380Lys) c.*192C>A (n.*192C>A) c.1135C>A (p.Gln379Lys) c.946-181380G>T (n.946-181380G>T) | |
| 6 | g.44260511A>C | CA450311383 | NFKBIE,POLR1C | c.720T>G (p.Leu240=) c.1137T>G (p.Leu379=) c.*191T>G (n.*191T>G) c.1134T>G (p.Leu378=) c.946-181379A>C (n.946-181379A>C) | |
| 6 | g.44260511A>G | CA450311384 | NFKBIE,POLR1C | c.720T>C (p.Leu240=) c.1137T>C (p.Leu379=) c.*191T>C (n.*191T>C) c.1134T>C (p.Leu378=) c.946-181379A>G (n.946-181379A>G) | |
| 6 | g.44260511A>T | CA450311385 | NFKBIE,POLR1C | c.720T>A (p.Leu240=) c.1137T>A (p.Leu379=) c.*191T>A (n.*191T>A) c.1134T>A (p.Leu378=) c.946-181379A>T (n.946-181379A>T) | |
| 6 | g.44260512A>C | CA364301894 | NFKBIE,POLR1C | c.719T>G (p.Leu240Arg) c.1136T>G (p.Leu379Arg) c.*190T>G (n.*190T>G) c.1133T>G (p.Leu378Arg) c.946-181378A>C (n.946-181378A>C) | |
| 6 | g.44260512A>G | CA364301898 | NFKBIE,POLR1C | c.719T>C (p.Leu240Pro) c.1136T>C (p.Leu379Pro) c.*190T>C (n.*190T>C) c.1133T>C (p.Leu378Pro) c.946-181378A>G (n.946-181378A>G) | |
| 6 | g.44260512A>T | CA364301896 | NFKBIE,POLR1C | c.719T>A (p.Leu240His) c.1136T>A (p.Leu379His) c.*190T>A (n.*190T>A) c.1133T>A (p.Leu378His) c.946-181378A>T (n.946-181378A>T) | |
| 6 | g.44260513G>A | CA364301899 | NFKBIE,POLR1C | c.718C>T (p.Leu240Phe) c.1135C>T (p.Leu379Phe) c.*189C>T (n.*189C>T) c.1132C>T (p.Leu378Phe) c.946-181377G>A (n.946-181377G>A) | |
| 6 | g.44260513G>C | CA364301901 | NFKBIE,POLR1C | c.718C>G (p.Leu240Val) c.1135C>G (p.Leu379Val) c.*189C>G (n.*189C>G) c.1132C>G (p.Leu378Val) c.946-181377G>C (n.946-181377G>C) | |
| 6 | g.44260513G>T | CA364301903 | NFKBIE,POLR1C | c.718C>A (p.Leu240Ile) c.1135C>A (p.Leu379Ile) c.*189C>A (n.*189C>A) c.1132C>A (p.Leu378Ile) c.946-181377G>T (n.946-181377G>T) | |
| 6 | g.44260514G>A | CA450311388 | NFKBIE,POLR1C | c.717C>T (p.Thr239=) c.1134C>T (p.Thr378=) c.*188C>T (n.*188C>T) c.1131C>T (p.Thr377=) c.946-181376G>A (n.946-181376G>A) | gnomAD v4 |
| 6 | g.44260514G>C | CA450311387 | NFKBIE,POLR1C | c.717C>G (p.Thr239=) c.1134C>G (p.Thr378=) c.*188C>G (n.*188C>G) c.1131C>G (p.Thr377=) c.946-181376G>C (n.946-181376G>C) | |
| 6 | g.44260514G= | CA1624897664 | NFKBIE,POLR1C | c.717C= (p.Thr239=) c.1134C= (p.Thr378=) c.*188C= (n.*188C=) c.1131C= (p.Thr377=) c.946-181376G= (n.946-181376G=) | |
| 6 | g.44260514G>T | CA450311386 | NFKBIE,POLR1C | c.717C>A (p.Thr239=) c.1134C>A (p.Thr378=) c.*188C>A (n.*188C>A) c.1131C>A (p.Thr377=) c.946-181376G>T (n.946-181376G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44260515G>A | CA364301905 | NFKBIE,POLR1C | c.716C>T (p.Thr239Ile) c.1133C>T (p.Thr378Ile) c.*187C>T (n.*187C>T) c.1130C>T (p.Thr377Ile) c.946-181375G>A (n.946-181375G>A) | |
| 6 | g.44260515G>C | CA364301907 | NFKBIE,POLR1C | c.716C>G (p.Thr239Ser) c.1133C>G (p.Thr378Ser) c.*187C>G (n.*187C>G) c.1130C>G (p.Thr377Ser) c.946-181375G>C (n.946-181375G>C) | |
| 6 | g.44260515G>T | CA364301909 | NFKBIE,POLR1C | c.716C>A (p.Thr239Asn) c.1133C>A (p.Thr378Asn) c.*187C>A (n.*187C>A) c.1130C>A (p.Thr377Asn) c.946-181375G>T (n.946-181375G>T) | |
| 6 | g.44260516T>A | CA364301911 | NFKBIE,POLR1C | c.715A>T (p.Thr239Ser) c.1132A>T (p.Thr378Ser) c.*186A>T (n.*186A>T) c.1129A>T (p.Thr377Ser) c.946-181374T>A (n.946-181374T>A) | |
| 6 | g.44260516T>C | CA364301913 | NFKBIE,POLR1C | c.715A>G (p.Thr239Ala) c.1132A>G (p.Thr378Ala) c.*186A>G (n.*186A>G) c.1129A>G (p.Thr377Ala) c.946-181374T>C (n.946-181374T>C) | |
| 6 | g.44260516T>G | CA364301915 | NFKBIE,POLR1C | c.715A>C (p.Thr239Pro) c.1132A>C (p.Thr378Pro) c.*186A>C (n.*186A>C) c.1129A>C (p.Thr377Pro) c.946-181374T>G (n.946-181374T>G) | dbSNP |
| 6 | g.44260516T= | CA1624897666 | NFKBIE,POLR1C | c.715A= (p.Thr239=) c.1132A= (p.Thr378=) c.*186A= (n.*186A=) c.1129A= (p.Thr377=) c.946-181374T= (n.946-181374T=) | |
| 6 | g.44260517G>A | CA3833086 | NFKBIE,POLR1C | c.714C>T (p.Ala238=) c.1131C>T (p.Ala377=) c.*185C>T (n.*185C>T) c.1128C>T (p.Ala376=) c.946-181373G>A (n.946-181373G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44260517G>C | CA450311389 | NFKBIE,POLR1C | c.714C>G (p.Ala238=) c.1131C>G (p.Ala377=) c.*185C>G (n.*185C>G) c.1128C>G (p.Ala376=) c.946-181373G>C (n.946-181373G>C) | |
| 6 | g.44260517G= | CA1624897674 | NFKBIE,POLR1C | c.714C= (p.Ala238=) c.1131C= (p.Ala377=) c.*185C= (n.*185C=) c.1128C= (p.Ala376=) c.946-181373G= (n.946-181373G=) | |
| 6 | g.44260517G>T | CA450311390 | NFKBIE,POLR1C | c.714C>A (p.Ala238=) c.1131C>A (p.Ala377=) c.*185C>A (n.*185C>A) c.1128C>A (p.Ala376=) c.946-181373G>T (n.946-181373G>T) | |
| 6 | g.44260518G>A | CA364301919 | NFKBIE,POLR1C | c.713C>T (p.Ala238Val) c.1130C>T (p.Ala377Val) c.*184C>T (n.*184C>T) c.1127C>T (p.Ala376Val) c.946-181372G>A (n.946-181372G>A) | |
| 6 | g.44260518G>C | CA364301920 | NFKBIE,POLR1C | c.713C>G (p.Ala238Gly) c.1130C>G (p.Ala377Gly) c.*184C>G (n.*184C>G) c.1127C>G (p.Ala376Gly) c.946-181372G>C (n.946-181372G>C) | |
| 6 | g.44260518G>T | CA364301922 | NFKBIE,POLR1C | c.713C>A (p.Ala238Asp) c.1130C>A (p.Ala377Asp) c.*184C>A (n.*184C>A) c.1127C>A (p.Ala376Asp) c.946-181372G>T (n.946-181372G>T) | |
| 6 | g.44260519C>A | CA364301925 | NFKBIE,POLR1C | c.712G>T (p.Ala238Ser) c.1129G>T (p.Ala377Ser) c.*183G>T (n.*183G>T) c.1126G>T (p.Ala376Ser) c.946-181371C>A (n.946-181371C>A) | |
| 6 | g.44260519C>G | CA364301928 | NFKBIE,POLR1C | c.712G>C (p.Ala238Pro) c.1129G>C (p.Ala377Pro) c.*183G>C (n.*183G>C) c.1126G>C (p.Ala376Pro) c.946-181371C>G (n.946-181371C>G) | |
| 6 | g.44260519C>T | CA364301926 | NFKBIE,POLR1C | c.712G>A (p.Ala238Thr) c.1129G>A (p.Ala377Thr) c.*183G>A (n.*183G>A) c.1126G>A (p.Ala376Thr) c.946-181371C>T (n.946-181371C>T) | |
| 6 | g.44260520A>C | CA364301931 | NFKBIE,POLR1C | c.711T>G (p.Ile237Met) c.1128T>G (p.Ile376Met) c.*182T>G (n.*182T>G) c.1125T>G (p.Ile375Met) c.946-181370A>C (n.946-181370A>C) | |
| 6 | g.44260520A>G | CA450311391 | NFKBIE,POLR1C | c.711T>C (p.Ile237=) c.1128T>C (p.Ile376=) c.*182T>C (n.*182T>C) c.1125T>C (p.Ile375=) c.946-181370A>G (n.946-181370A>G) | |
| 6 | g.44260520A>T | CA450311392 | NFKBIE,POLR1C | c.711T>A (p.Ile237=) c.1128T>A (p.Ile376=) c.*182T>A (n.*182T>A) c.1125T>A (p.Ile375=) c.946-181370A>T (n.946-181370A>T) | |
| 6 | g.44260521A>C | CA364301933 | NFKBIE,POLR1C | c.710T>G (p.Ile237Ser) c.1127T>G (p.Ile376Ser) c.*181T>G (n.*181T>G) c.1124T>G (p.Ile375Ser) c.946-181369A>C (n.946-181369A>C) | |
| 6 | g.44260521A>G | CA364301935 | NFKBIE,POLR1C | c.710T>C (p.Ile237Thr) c.1127T>C (p.Ile376Thr) c.*181T>C (n.*181T>C) c.1124T>C (p.Ile375Thr) c.946-181369A>G (n.946-181369A>G) | |
| 6 | g.44260521A>T | CA364301936 | NFKBIE,POLR1C | c.710T>A (p.Ile237Asn) c.1127T>A (p.Ile376Asn) c.*181T>A (n.*181T>A) c.1124T>A (p.Ile375Asn) c.946-181369A>T (n.946-181369A>T) | |
| 6 | g.44260522T>A | CA364301937 | NFKBIE,POLR1C | c.709A>T (p.Ile237Phe) c.1126A>T (p.Ile376Phe) c.*180A>T (n.*180A>T) c.1123A>T (p.Ile375Phe) c.946-181368T>A (n.946-181368T>A) | |
| 6 | g.44260522T>C | CA364301939 | NFKBIE,POLR1C | c.709A>G (p.Ile237Val) c.1126A>G (p.Ile376Val) c.*180A>G (n.*180A>G) c.1123A>G (p.Ile375Val) c.946-181368T>C (n.946-181368T>C) | |
| 6 | g.44260522T>G | CA364301941 | NFKBIE,POLR1C | c.709A>C (p.Ile237Leu) c.1126A>C (p.Ile376Leu) c.*180A>C (n.*180A>C) c.1123A>C (p.Ile375Leu) c.946-181368T>G (n.946-181368T>G) | |
| 6 | g.44260523G>A | CA450311393 | NFKBIE,POLR1C | c.708C>T (p.His236=) c.1125C>T (p.His375=) c.*179C>T (n.*179C>T) c.1122C>T (p.His374=) c.946-181367G>A (n.946-181367G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44260523G>C | CA364301944 | NFKBIE,POLR1C | c.708C>G (p.His236Gln) c.1125C>G (p.His375Gln) c.*179C>G (n.*179C>G) c.1122C>G (p.His374Gln) c.946-181367G>C (n.946-181367G>C) | |
| 6 | g.44260523G= | CA1624897676 | NFKBIE,POLR1C | c.708C= (p.His236=) c.1125C= (p.His375=) c.*179C= (n.*179C=) c.1122C= (p.His374=) c.946-181367G= (n.946-181367G=) | |
| 6 | g.44260523G>T | CA364301946 | NFKBIE,POLR1C | c.708C>A (p.His236Gln) c.1125C>A (p.His375Gln) c.*179C>A (n.*179C>A) c.1122C>A (p.His374Gln) c.946-181367G>T (n.946-181367G>T) | |
| 6 | g.44260524T>A | CA364301952 | NFKBIE,POLR1C | c.707A>T (p.His236Leu) c.1124A>T (p.His375Leu) c.*178A>T (n.*178A>T) c.1121A>T (p.His374Leu) c.946-181366T>A (n.946-181366T>A) | |
| 6 | g.44260524T>C | CA364301950 | NFKBIE,POLR1C | c.707A>G (p.His236Arg) c.1124A>G (p.His375Arg) c.*178A>G (n.*178A>G) c.1121A>G (p.His374Arg) c.946-181366T>C (n.946-181366T>C) | |
| 6 | g.44260524T>G | CA364301948 | NFKBIE,POLR1C | c.707A>C (p.His236Pro) c.1124A>C (p.His375Pro) c.*178A>C (n.*178A>C) c.1121A>C (p.His374Pro) c.946-181366T>G (n.946-181366T>G) | gnomAD v4 |
| 6 | g.44260525G>A | CA364301954 | NFKBIE,POLR1C | c.706C>T (p.His236Tyr) c.1123C>T (p.His375Tyr) c.*177C>T (n.*177C>T) c.1120C>T (p.His374Tyr) c.946-181365G>A (n.946-181365G>A) | |
| 6 | g.44260525G>C | CA364301955 | NFKBIE,POLR1C | c.706C>G (p.His236Asp) c.1123C>G (p.His375Asp) c.*177C>G (n.*177C>G) c.1120C>G (p.His374Asp) c.946-181365G>C (n.946-181365G>C) | |
| 6 | g.44260525G>T | CA364301957 | NFKBIE,POLR1C | c.706C>A (p.His236Asn) c.1123C>A (p.His375Asn) c.*177C>A (n.*177C>A) c.1120C>A (p.His374Asn) c.946-181365G>T (n.946-181365G>T) | |
| 6 | g.44260526G>A | CA450311394 | NFKBIE,POLR1C | c.705C>T (p.Leu235=) c.1122C>T (p.Leu374=) c.*176C>T (n.*176C>T) c.1119C>T (p.Leu373=) c.946-181364G>A (n.946-181364G>A) | gnomAD v4 |
| 6 | g.44260526G>C | CA450311395 | NFKBIE,POLR1C | c.705C>G (p.Leu235=) c.1122C>G (p.Leu374=) c.*176C>G (n.*176C>G) c.1119C>G (p.Leu373=) c.946-181364G>C (n.946-181364G>C) | |
| 6 | g.44260526G>T | CA450311396 | NFKBIE,POLR1C | c.705C>A (p.Leu235=) c.1122C>A (p.Leu374=) c.*176C>A (n.*176C>A) c.1119C>A (p.Leu373=) c.946-181364G>T (n.946-181364G>T) | |
| 6 | g.44260527A>C | CA364301960 | NFKBIE,POLR1C | c.704T>G (p.Leu235Arg) c.1121T>G (p.Leu374Arg) c.*175T>G (n.*175T>G) c.1118T>G (p.Leu373Arg) c.946-181363A>C (n.946-181363A>C) | |
| 6 | g.44260527A>G | CA364301961 | NFKBIE,POLR1C | c.704T>C (p.Leu235Pro) c.1121T>C (p.Leu374Pro) c.*175T>C (n.*175T>C) c.1118T>C (p.Leu373Pro) c.946-181363A>G (n.946-181363A>G) | |
| 6 | g.44260527A>T | CA364301963 | NFKBIE,POLR1C | c.704T>A (p.Leu235His) c.1121T>A (p.Leu374His) c.*175T>A (n.*175T>A) c.1118T>A (p.Leu373His) c.946-181363A>T (n.946-181363A>T) | |
| 6 | g.44260528G>A | CA364301969 | NFKBIE,POLR1C | c.703C>T (p.Leu235Phe) c.1120C>T (p.Leu374Phe) c.*174C>T (n.*174C>T) c.1117C>T (p.Leu373Phe) c.946-181362G>A (n.946-181362G>A) | |
| 6 | g.44260528G>C | CA364301966 | NFKBIE,POLR1C | c.703C>G (p.Leu235Val) c.1120C>G (p.Leu374Val) c.*174C>G (n.*174C>G) c.1117C>G (p.Leu373Val) c.946-181362G>C (n.946-181362G>C) | |
| 6 | g.44260528G>T | CA364301968 | NFKBIE,POLR1C | c.703C>A (p.Leu235Ile) c.1120C>A (p.Leu374Ile) c.*174C>A (n.*174C>A) c.1117C>A (p.Leu373Ile) c.946-181362G>T (n.946-181362G>T) | |
| 6 | g.44260529A>C | CA364301971 | NFKBIE,POLR1C | c.702T>G (p.Cys234Trp) c.1119T>G (p.Cys373Trp) c.*173T>G (n.*173T>G) c.1116T>G (p.Cys372Trp) c.946-181361A>C (n.946-181361A>C) | |
| 6 | g.44260529A>G | CA450311397 | NFKBIE,POLR1C | c.702T>C (p.Cys234=) c.1119T>C (p.Cys373=) c.*173T>C (n.*173T>C) c.1116T>C (p.Cys372=) c.946-181361A>G (n.946-181361A>G) | |
| 6 | g.44260529A>T | CA364301973 | NFKBIE,POLR1C | c.702T>A (p.Cys234Ter) c.1119T>A (p.Cys373Ter) c.*173T>A (n.*173T>A) c.1116T>A (p.Cys372Ter) c.946-181361A>T (n.946-181361A>T) | |
| 6 | g.44260530C>A | CA364301976 | NFKBIE,POLR1C | c.701G>T (p.Cys234Phe) c.1118G>T (p.Cys373Phe) c.*172G>T (n.*172G>T) c.1115G>T (p.Cys372Phe) c.946-181360C>A (n.946-181360C>A) | dbSNP gnomAD v2 |
| 6 | g.44260530C= | CA1624897678 | NFKBIE,POLR1C | c.701G= (p.Cys234=) c.1118G= (p.Cys373=) c.*172G= (n.*172G=) c.1115G= (p.Cys372=) c.946-181360C= (n.946-181360C=) | |
| 6 | g.44260530C>G | CA364301978 | NFKBIE,POLR1C | c.701G>C (p.Cys234Ser) c.1118G>C (p.Cys373Ser) c.*172G>C (n.*172G>C) c.1115G>C (p.Cys372Ser) c.946-181360C>G (n.946-181360C>G) | |
| 6 | g.44260530C>T | CA364301979 | NFKBIE,POLR1C | c.701G>A (p.Cys234Tyr) c.1118G>A (p.Cys373Tyr) c.*172G>A (n.*172G>A) c.1115G>A (p.Cys372Tyr) c.946-181360C>T (n.946-181360C>T) | |
| 6 | g.44260531A>C | CA364301981 | NFKBIE,POLR1C | c.700T>G (p.Cys234Gly) c.1117T>G (p.Cys373Gly) c.*171T>G (n.*171T>G) c.1114T>G (p.Cys372Gly) c.946-181359A>C (n.946-181359A>C) | |
| 6 | g.44260531A>G | CA364301985 | NFKBIE,POLR1C | c.700T>C (p.Cys234Arg) c.1117T>C (p.Cys373Arg) c.*171T>C (n.*171T>C) c.1114T>C (p.Cys372Arg) c.946-181359A>G (n.946-181359A>G) | |
| 6 | g.44260531A>T | CA364301983 | NFKBIE,POLR1C | c.700T>A (p.Cys234Ser) c.1117T>A (p.Cys373Ser) c.*171T>A (n.*171T>A) c.1114T>A (p.Cys372Ser) c.946-181359A>T (n.946-181359A>T) | |
| 6 | g.44260532A>C | CA450311398 | NFKBIE,POLR1C | c.699T>G (p.Ala233=) c.1116T>G (p.Ala372=) c.*170T>G (n.*170T>G) c.1113T>G (p.Ala371=) c.946-181358A>C (n.946-181358A>C) | |
| 6 | g.44260532A>G | CA450311399 | NFKBIE,POLR1C | c.699T>C (p.Ala233=) c.1116T>C (p.Ala372=) c.*170T>C (n.*170T>C) c.1113T>C (p.Ala371=) c.946-181358A>G (n.946-181358A>G) | |
| 6 | g.44260532A>T | CA450311400 | NFKBIE,POLR1C | c.699T>A (p.Ala233=) c.1116T>A (p.Ala372=) c.*170T>A (n.*170T>A) c.1113T>A (p.Ala371=) c.946-181358A>T (n.946-181358A>T) | |
| 6 | g.44260533G>A | CA364301986 | NFKBIE,POLR1C | c.698C>T (p.Ala233Val) c.1115C>T (p.Ala372Val) c.*169C>T (n.*169C>T) c.1112C>T (p.Ala371Val) c.946-181357G>A (n.946-181357G>A) | |
| 6 | g.44260533G>C | CA364301988 | NFKBIE,POLR1C | c.698C>G (p.Ala233Gly) c.1115C>G (p.Ala372Gly) c.*169C>G (n.*169C>G) c.1112C>G (p.Ala371Gly) c.946-181357G>C (n.946-181357G>C) | |
| 6 | g.44260533G>T | CA364301990 | NFKBIE,POLR1C | c.698C>A (p.Ala233Asp) c.1115C>A (p.Ala372Asp) c.*169C>A (n.*169C>A) c.1112C>A (p.Ala371Asp) c.946-181357G>T (n.946-181357G>T) | |
| 6 | g.44260534C>A | CA364301992 | NFKBIE,POLR1C | c.697G>T (p.Ala233Ser) c.1114G>T (p.Ala372Ser) c.*168G>T (n.*168G>T) c.1111G>T (p.Ala371Ser) c.946-181356C>A (n.946-181356C>A) | |
| 6 | g.44260534C>G | CA364301994 | NFKBIE,POLR1C | c.697G>C (p.Ala233Pro) c.1114G>C (p.Ala372Pro) c.*168G>C (n.*168G>C) c.1111G>C (p.Ala371Pro) c.946-181356C>G (n.946-181356C>G) | |
| 6 | g.44260534C>T | CA364301996 | NFKBIE,POLR1C | c.697G>A (p.Ala233Thr) c.1114G>A (p.Ala372Thr) c.*168G>A (n.*168G>A) c.1111G>A (p.Ala371Thr) c.946-181356C>T (n.946-181356C>T) | |
| 6 | g.44260535C>A | CA450311401 | NFKBIE,POLR1C | c.696G>T (p.Leu232=) c.1113G>T (p.Leu371=) c.*167G>T (n.*167G>T) c.1110G>T (p.Leu370=) c.946-181355C>A (n.946-181355C>A) | |
| 6 | g.44260535C>G | CA450311403 | NFKBIE,POLR1C | c.696G>C (p.Leu232=) c.1113G>C (p.Leu371=) c.*167G>C (n.*167G>C) c.1110G>C (p.Leu370=) c.946-181355C>G (n.946-181355C>G) | |
| 6 | g.44260535C>T | CA450311402 | NFKBIE,POLR1C | c.696G>A (p.Leu232=) c.1113G>A (p.Leu371=) c.*167G>A (n.*167G>A) c.1110G>A (p.Leu370=) c.946-181355C>T (n.946-181355C>T) | |
| 6 | g.44260536A>C | CA364301998 | NFKBIE,POLR1C | c.695T>G (p.Leu232Arg) c.1112T>G (p.Leu371Arg) c.*166T>G (n.*166T>G) c.1109T>G (p.Leu370Arg) c.946-181354A>C (n.946-181354A>C) | |
| 6 | g.44260536A>G | CA364302000 | NFKBIE,POLR1C | c.695T>C (p.Leu232Pro) c.1112T>C (p.Leu371Pro) c.*166T>C (n.*166T>C) c.1109T>C (p.Leu370Pro) c.946-181354A>G (n.946-181354A>G) | |
| 6 | g.44260536A>T | CA364302001 | NFKBIE,POLR1C | c.695T>A (p.Leu232Gln) c.1112T>A (p.Leu371Gln) c.*166T>A (n.*166T>A) c.1109T>A (p.Leu370Gln) c.946-181354A>T (n.946-181354A>T) | |
| 6 | g.44260537G>A | CA450311404 | NFKBIE,POLR1C | c.694C>T (p.Leu232=) c.1111C>T (p.Leu371=) c.*165C>T (n.*165C>T) c.1108C>T (p.Leu370=) c.946-181353G>A (n.946-181353G>A) | gnomAD v4 |
| 6 | g.44260537G>C | CA364302003 | NFKBIE,POLR1C | c.694C>G (p.Leu232Val) c.1111C>G (p.Leu371Val) c.*165C>G (n.*165C>G) c.1108C>G (p.Leu370Val) c.946-181353G>C (n.946-181353G>C) | |
| 6 | g.44260537G>T | CA364302004 | NFKBIE,POLR1C | c.694C>A (p.Leu232Met) c.1111C>A (p.Leu371Met) c.*165C>A (n.*165C>A) c.1108C>A (p.Leu370Met) c.946-181353G>T (n.946-181353G>T) | |
| 6 | g.44260538A>C | CA450311405 | NFKBIE,POLR1C | c.693T>G (p.Gly231=) c.1110T>G (p.Gly370=) c.*164T>G (n.*164T>G) c.1107T>G (p.Gly369=) c.946-181352A>C (n.946-181352A>C) | |
| 6 | g.44260538A>G | CA450311406 | NFKBIE,POLR1C | c.693T>C (p.Gly231=) c.1110T>C (p.Gly370=) c.*164T>C (n.*164T>C) c.1107T>C (p.Gly369=) c.946-181352A>G (n.946-181352A>G) | |
| 6 | g.44260538A>T | CA450311407 | NFKBIE,POLR1C | c.693T>A (p.Gly231=) c.1110T>A (p.Gly370=) c.*164T>A (n.*164T>A) c.1107T>A (p.Gly369=) c.946-181352A>T (n.946-181352A>T) | |
| 6 | g.44260539C>A | CA364302006 | NFKBIE,POLR1C | c.692G>T (p.Gly231Val) c.1109G>T (p.Gly370Val) c.*163G>T (n.*163G>T) c.1106G>T (p.Gly369Val) c.946-181351C>A (n.946-181351C>A) | |
| 6 | g.44260539C= | CA1624897683 | NFKBIE,POLR1C | c.692G= (p.Gly231=) c.1109G= (p.Gly370=) c.*163G= (n.*163G=) c.1106G= (p.Gly369=) c.946-181351C= (n.946-181351C=) | |
| 6 | g.44260539C>G | CA364302007 | NFKBIE,POLR1C | c.692G>C (p.Gly231Ala) c.1109G>C (p.Gly370Ala) c.*163G>C (n.*163G>C) c.1106G>C (p.Gly369Ala) c.946-181351C>G (n.946-181351C>G) | dbSNP |
| 6 | g.44260539C>T | CA364302005 | NFKBIE,POLR1C | c.692G>A (p.Gly231Asp) c.1109G>A (p.Gly370Asp) c.*163G>A (n.*163G>A) c.1106G>A (p.Gly369Asp) c.946-181351C>T (n.946-181351C>T) | |
| 6 | g.44260540C>A | CA364302009 | NFKBIE,POLR1C | c.692-1G>T (n.692-1G>T) c.1109-1G>T (n.1109-1G>T) c.*163-1G>T (n.*163-1G>T) c.1106-1G>T (n.1106-1G>T) c.946-181350C>A (n.946-181350C>A) | |
| 6 | g.44260540C>G | CA364302008 | NFKBIE,POLR1C | c.692-1G>C (n.692-1G>C) c.1109-1G>C (n.1109-1G>C) c.*163-1G>C (n.*163-1G>C) c.1106-1G>C (n.1106-1G>C) c.946-181350C>G (n.946-181350C>G) | |
| 6 | g.44260540C>T | CA364302010 | NFKBIE,POLR1C | c.692-1G>A (n.692-1G>A) c.1109-1G>A (n.1109-1G>A) c.*163-1G>A (n.*163-1G>A) c.1106-1G>A (n.1106-1G>A) c.946-181350C>T (n.946-181350C>T) | |
| 6 | g.44260541T>A | CA364302013 | NFKBIE,POLR1C | c.692-2A>T (n.692-2A>T) c.1109-2A>T (n.1109-2A>T) c.*163-2A>T (n.*163-2A>T) c.1106-2A>T (n.1106-2A>T) c.946-181349T>A (n.946-181349T>A) | |
| 6 | g.44260541T>C | CA364302017 | NFKBIE,POLR1C | c.692-2A>G (n.692-2A>G) c.1109-2A>G (n.1109-2A>G) c.*163-2A>G (n.*163-2A>G) c.1106-2A>G (n.1106-2A>G) c.946-181349T>C (n.946-181349T>C) | |
| 6 | g.44260541T>G | CA364302015 | NFKBIE,POLR1C | c.692-2A>C (n.692-2A>C) c.1109-2A>C (n.1109-2A>C) c.*163-2A>C (n.*163-2A>C) c.1106-2A>C (n.1106-2A>C) c.946-181349T>G (n.946-181349T>G) | |
| 6 | g.44260544G>A | CA138359280 | NFKBIE,POLR1C | c.692-5C>T (n.692-5C>T) c.1109-5C>T (n.1109-5C>T) c.*163-5C>T (n.*163-5C>T) c.1106-5C>T (n.1106-5C>T) c.946-181346G>A (n.946-181346G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.44260544G= | CA1624897688 | NFKBIE,POLR1C | c.692-5C= (n.692-5C=) c.1109-5C= (n.1109-5C=) c.*163-5C= (n.*163-5C=) c.1106-5C= (n.1106-5C=) c.946-181346G= (n.946-181346G=) | |
| 6 | g.44260546T>C | CA2678944664 | NFKBIE,POLR1C | c.692-7A>G (n.692-7A>G) c.1109-7A>G (n.1109-7A>G) c.*163-7A>G (n.*163-7A>G) c.1106-7A>G (n.1106-7A>G) c.946-181344T>C (n.946-181344T>C) | gnomAD v4 |
| 6 | g.44260547G>A | CA2711925366 | NFKBIE,POLR1C | c.692-8C>T (n.692-8C>T) c.1109-8C>T (n.1109-8C>T) c.*163-8C>T (n.*163-8C>T) c.1106-8C>T (n.1106-8C>T) c.946-181343G>A (n.946-181343G>A) | dbSNP |
| 6 | g.44260547G>T | CA2678944665 | NFKBIE,POLR1C | c.692-8C>A (n.692-8C>A) c.1109-8C>A (n.1109-8C>A) c.*163-8C>A (n.*163-8C>A) c.1106-8C>A (n.1106-8C>A) c.946-181343G>T (n.946-181343G>T) | gnomAD v4 |
| 6 | g.44260548G>A | CA1088451240 | NFKBIE,POLR1C | c.692-9C>T (n.692-9C>T) c.1109-9C>T (n.1109-9C>T) c.*163-9C>T (n.*163-9C>T) c.1106-9C>T (n.1106-9C>T) c.946-181342G>A (n.946-181342G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.44260548G= | CA1624897692 | NFKBIE,POLR1C | c.692-9C= (n.692-9C=) c.1109-9C= (n.1109-9C=) c.*163-9C= (n.*163-9C=) c.1106-9C= (n.1106-9C=) c.946-181342G= (n.946-181342G=) | |
| 6 | g.44260550G>A | CA824997875 | NFKBIE,POLR1C | c.692-11C>T (n.692-11C>T) c.1109-11C>T (n.1109-11C>T) c.*163-11C>T (n.*163-11C>T) c.1106-11C>T (n.1106-11C>T) c.946-181340G>A (n.946-181340G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.44260550G= | CA1624897695 | NFKBIE,POLR1C | c.692-11C= (n.692-11C=) c.1109-11C= (n.1109-11C=) c.*163-11C= (n.*163-11C=) c.1106-11C= (n.1106-11C=) c.946-181340G= (n.946-181340G=) | |
| 6 | g.44260551T>C | CA3833087 | NFKBIE,POLR1C | c.692-12A>G (n.692-12A>G) c.1109-12A>G (n.1109-12A>G) c.*163-12A>G (n.*163-12A>G) c.1106-12A>G (n.1106-12A>G) c.946-181339T>C (n.946-181339T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.44260551T= | CA1624897698 | NFKBIE,POLR1C | c.692-12A= (n.692-12A=) c.1109-12A= (n.1109-12A=) c.*163-12A= (n.*163-12A=) c.1106-12A= (n.1106-12A=) c.946-181339T= (n.946-181339T=) | |
| 6 | g.44260552G>A | CA138359289 | NFKBIE,POLR1C | c.692-13C>T (n.692-13C>T) c.1109-13C>T (n.1109-13C>T) c.*163-13C>T (n.*163-13C>T) c.1106-13C>T (n.1106-13C>T) c.946-181338G>A (n.946-181338G>A) | dbSNP gnomAD v4 |
| 6 | g.44260552G= | CA1624897701 | NFKBIE,POLR1C | c.692-13C= (n.692-13C=) c.1109-13C= (n.1109-13C=) c.*163-13C= (n.*163-13C=) c.1106-13C= (n.1106-13C=) c.946-181338G= (n.946-181338G=) |