| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.113149055del | CA2623809558 | F10 | c.1005del (p.Met336Ter) c.995del (p.Ala332AspfsTer12) c.1001del (p.Ala334AspfsTer12) c.873del (p.Met292Ter) | gnomAD v4 |
| 13 | g.113149055C>A | CA388792542 | F10 | c.1005C>A (p.Arg335=) c.995C>A (p.Ala332Glu) c.1001C>A (p.Ala334Glu) c.873C>A (p.Arg291=) | |
| 13 | g.113149055C>G | CA388792543 | F10 | c.1005C>G (p.Arg335=) c.995C>G (p.Ala332Gly) c.1001C>G (p.Ala334Gly) c.873C>G (p.Arg291=) | |
| 13 | g.113149055C>T | CA388792545 | F10 | c.1005C>T (p.Arg335=) c.995C>T (p.Ala332Val) c.1001C>T (p.Ala334Val) c.873C>T (p.Arg291=) | |
| 13 | g.113149056A= | CA2120140061 | F10 | c.1006A= (p.Met336=) c.996A= (p.Ala332=) c.1002A= (p.Ala334=) c.874A= (p.Met292=) | |
| 13 | g.113149056A>C | CA388792548 | F10 | c.1006A>C (p.Met336Leu) c.996A>C (p.Ala332=) c.1002A>C (p.Ala334=) c.874A>C (p.Met292Leu) | |
| 13 | g.113149056A>G | CA256478663 | F10 | c.1006A>G (p.Met336Val) c.996A>G (p.Ala332=) c.1002A>G (p.Ala334=) c.874A>G (p.Met292Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149056A>T | CA388792551 | F10 | c.1006A>T (p.Met336Leu) c.996A>T (p.Ala332=) c.1002A>T (p.Ala334=) c.874A>T (p.Met292Leu) | |
| 13 | g.113149057T>A | CA388792554 | F10 | c.1007T>A (p.Met336Lys) c.997T>A (p.Ter333Arg) c.1003T>A (p.Ter335Arg) c.875T>A (p.Met292Lys) | |
| 13 | g.113149057T>C | CA388792556 | F10 | c.1007T>C (p.Met336Thr) c.997T>C (p.Ter333Arg) c.1003T>C (p.Ter335Arg) c.875T>C (p.Met292Thr) | |
| 13 | g.113149057T>G | CA388792558 | F10 | c.1007T>G (p.Met336Arg) c.997T>G (p.Ter333Gly) c.1003T>G (p.Ter335Gly) c.875T>G (p.Met292Arg) | |
| 13 | g.113149058G>A | CA388792566 | F10 | c.1008G>A (p.Met336Ile) c.998G>A (p.Ter333=) c.1004G>A (p.Ter335=) c.876G>A (p.Met292Ile) | COSMIC |
| 13 | g.113149058G>C | CA388792563 | F10 | c.1008G>C (p.Met336Ile) c.998G>C (p.Ter333Ser) c.1004G>C (p.Ter335Ser) c.876G>C (p.Met292Ile) | |
| 13 | g.113149058G>T | CA388792560 | F10 | c.1008G>T (p.Met336Ile) c.998G>T (p.Ter333Leu) c.1004G>T (p.Ter335Leu) c.876G>T (p.Met292Ile) | |
| 13 | g.113149059A>C | CA388792569 | F10 | c.1009A>C (p.Asn337His) c.999A>C (p.Ter333Cys) c.1005A>C (p.Ter335Cys) c.877A>C (p.Asn293His) | |
| 13 | g.113149059A>G | CA388792572 | F10 | c.1009A>G (p.Asn337Asp) c.999A>G (p.Ter333Trp) c.1005A>G (p.Ter335Trp) c.877A>G (p.Asn293Asp) | |
| 13 | g.113149059A>T | CA388792574 | F10 | c.1009A>T (p.Asn337Tyr) c.999A>T (p.Ter333Cys) c.1005A>T (p.Ter335Cys) c.877A>T (p.Asn293Tyr) | |
| 13 | g.113149060A>C | CA388792577 | F10 | c.1010A>C (p.Asn337Thr) c.*1A>C (n.*1A>C) c.878A>C (p.Asn293Thr) | |
| 13 | g.113149060A>G | CA388792578 | F10 | c.1010A>G (p.Asn337Ser) c.*1A>G (n.*1A>G) c.878A>G (p.Asn293Ser) | |
| 13 | g.113149060A>T | CA388792581 | F10 | c.1010A>T (p.Asn337Ile) c.*1A>T (n.*1A>T) c.878A>T (p.Asn293Ile) | |
| 13 | g.113149061C>A | CA256478665 | F10 | c.1011C>A (p.Asn337Lys) c.*2C>A (n.*2C>A) c.879C>A (p.Asn293Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113149061C= | CA2120140069 | F10 | c.1011C= (p.Asn337=) c.*2C= (n.*2C=) c.879C= (p.Asn293=) | |
| 13 | g.113149061C>G | CA388792585 | F10 | c.1011C>G (p.Asn337Lys) c.*2C>G (n.*2C>G) c.879C>G (p.Asn293Lys) | |
| 13 | g.113149061C>T | CA7060662 | F10 | c.1011C>T (p.Asn337=) c.*2C>T (n.*2C>T) c.879C>T (p.Asn293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149062G>A | CA256478666 | F10 | c.1012G>A (p.Val338Met) c.*3G>A (n.*3G>A) c.880G>A (p.Val294Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113149062G>C | CA388792588 | F10 | c.1012G>C (p.Val338Leu) c.*3G>C (n.*3G>C) c.880G>C (p.Val294Leu) | |
| 13 | g.113149062G= | CA2120140078 | F10 | c.1012G= (p.Val338=) c.*3G= (n.*3G=) c.880G= (p.Val294=) | |
| 13 | g.113149062G>T | CA388792591 | F10 | c.1012G>T (p.Val338Leu) c.*3G>T (n.*3G>T) c.880G>T (p.Val294Leu) | gnomAD v4 |
| 13 | g.113149063T>A | CA388792599 | F10 | c.1013T>A (p.Val338Glu) c.*4T>A (n.*4T>A) c.881T>A (p.Val294Glu) | |
| 13 | g.113149063T>C | CA388792597 | F10 | c.1013T>C (p.Val338Ala) c.*4T>C (n.*4T>C) c.881T>C (p.Val294Ala) | |
| 13 | g.113149063T>G | CA388792595 | F10 | c.1013T>G (p.Val338Gly) c.*4T>G (n.*4T>G) c.881T>G (p.Val294Gly) | |
| 13 | g.113149064G>A | CA485424051 | F10 | c.1014G>A (p.Val338=) c.*5G>A (n.*5G>A) c.882G>A (p.Val294=) | |
| 13 | g.113149064G>C | CA7060663 | F10 | c.1014G>C (p.Val338=) c.*5G>C (n.*5G>C) c.882G>C (p.Val294=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113149064G= | CA2120140081 | F10 | c.1014G= (p.Val338=) c.*5G= (n.*5G=) c.882G= (p.Val294=) | |
| 13 | g.113149064G>T | CA485424052 | F10 | c.1014G>T (p.Val338=) c.*5G>T (n.*5G>T) c.882G>T (p.Val294=) | |
| 13 | g.113149065G>A | CA388792608 | F10 | c.1015G>A (p.Ala339Thr) c.*6G>A (n.*6G>A) c.883G>A (p.Ala295Thr) | |
| 13 | g.113149065G>C | CA388792603 | F10 | c.1015G>C (p.Ala339Pro) c.*6G>C (n.*6G>C) c.883G>C (p.Ala295Pro) | |
| 13 | g.113149065G>T | CA388792605 | F10 | c.1015G>T (p.Ala339Ser) c.*6G>T (n.*6G>T) c.883G>T (p.Ala295Ser) | |
| 13 | g.113149066C>A | CA388792612 | F10 | c.1016C>A (p.Ala339Glu) c.*7C>A (n.*7C>A) c.884C>A (p.Ala295Glu) | |
| 13 | g.113149066C= | CA2120140083 | F10 | c.1016C= (p.Ala339=) c.*7C= (n.*7C=) c.884C= (p.Ala295=) | |
| 13 | g.113149066C>G | CA388792614 | F10 | c.1016C>G (p.Ala339Gly) c.*7C>G (n.*7C>G) c.884C>G (p.Ala295Gly) | |
| 13 | g.113149066C>T | CA7060664 | F10 | c.1016C>T (p.Ala339Val) c.*7C>T (n.*7C>T) c.884C>T (p.Ala295Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113149067G>A | CA7060665 | F10 | c.1017G>A (p.Ala339=) c.*8G>A (n.*8G>A) c.885G>A (p.Ala295=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113149067G>C | CA485424053 | F10 | c.1017G>C (p.Ala339=) c.*8G>C (n.*8G>C) c.885G>C (p.Ala295=) | |
| 13 | g.113149067G= | CA2120140086 | F10 | c.1017G= (p.Ala339=) c.*8G= (n.*8G=) c.885G= (p.Ala295=) | |
| 13 | g.113149067G>T | CA485424054 | F10 | c.1017G>T (p.Ala339=) c.*8G>T (n.*8G>T) c.885G>T (p.Ala295=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113149075_113149078dup | CA2623809560 | F10 | c.1025_1028dup (p.Glu345ProfsTer4) c.*16_*19dup (n.*16_*19dup) c.893_896dup (p.Glu301ProfsTer4) | gnomAD v4 |
| 13 | g.113149068C>A | CA388792621 | F10 | c.1018C>A (p.Pro340Thr) c.*9C>A (n.*9C>A) c.886C>A (p.Pro296Thr) | |
| 13 | g.113149068C= | CA2120140089 | F10 | c.1018C= (p.Pro340=) c.*9C= (n.*9C=) c.886C= (p.Pro296=) | |
| 13 | g.113149068C>G | CA256478670 | F10 | c.1018C>G (p.Pro340Ala) c.*9C>G (n.*9C>G) c.886C>G (p.Pro296Ala) | dbSNP gnomAD v4 |