| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131583813del | CA3999395 | ARG1,MED23 | c.874del (p.Thr292GlnfsTer2) c.616del (p.Thr206GlnfsTer2) c.820del (p.Thr274GlnfsTer2) c.*761del (n.*761del) c.619del (p.Thr207GlnfsTer2) c.4095+3897del (n.4095+3897del) c.898del (p.Thr300GlnfsTer2) c.4077+3897del (n.4077+3897del) n.858del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131583813A>C | CA365653620 | ARG1,MED23 | c.874A>C (p.Thr292Pro) c.616A>C (p.Thr206Pro) c.820A>C (p.Thr274Pro) c.*761A>C (n.*761A>C) c.619A>C (p.Thr207Pro) c.4095+3896T>G (n.4095+3896T>G) c.898A>C (p.Thr300Pro) c.4077+3896T>G (n.4077+3896T>G) n.858A>C | |
| 6 | g.131583813A>G | CA365653621 | ARG1,MED23 | c.874A>G (p.Thr292Ala) c.616A>G (p.Thr206Ala) c.820A>G (p.Thr274Ala) c.*761A>G (n.*761A>G) c.619A>G (p.Thr207Ala) c.4095+3896T>C (n.4095+3896T>C) c.898A>G (p.Thr300Ala) c.4077+3896T>C (n.4077+3896T>C) n.858A>G | |
| 6 | g.131583813A>T | CA365653622 | ARG1,MED23 | c.874A>T (p.Thr292Ser) c.616A>T (p.Thr206Ser) c.820A>T (p.Thr274Ser) c.*761A>T (n.*761A>T) c.619A>T (p.Thr207Ser) c.4095+3896T>A (n.4095+3896T>A) c.898A>T (p.Thr300Ser) c.4077+3896T>A (n.4077+3896T>A) n.858A>T | |
| 6 | g.131583814C>A | CA365653623 | ARG1,MED23 | c.875C>A (p.Thr292Lys) c.617C>A (p.Thr206Lys) c.821C>A (p.Thr274Lys) c.*762C>A (n.*762C>A) c.620C>A (p.Thr207Lys) c.4095+3895G>T (n.4095+3895G>T) c.899C>A (p.Thr300Lys) c.4077+3895G>T (n.4077+3895G>T) n.859C>A | |
| 6 | g.131583814C>G | CA365653624 | ARG1,MED23 | c.875C>G (p.Thr292Arg) c.617C>G (p.Thr206Arg) c.821C>G (p.Thr274Arg) c.*762C>G (n.*762C>G) c.620C>G (p.Thr207Arg) c.4095+3895G>C (n.4095+3895G>C) c.899C>G (p.Thr300Arg) c.4077+3895G>C (n.4077+3895G>C) n.859C>G | ClinVar dbSNP |
| 6 | g.131583814C>T | CA365653625 | ARG1,MED23 | c.875C>T (p.Thr292Ile) c.617C>T (p.Thr206Ile) c.821C>T (p.Thr274Ile) c.*762C>T (n.*762C>T) c.620C>T (p.Thr207Ile) c.4095+3895G>A (n.4095+3895G>A) c.899C>T (p.Thr300Ile) c.4077+3895G>A (n.4077+3895G>A) n.859C>T | gnomAD v4 COSMIC |
| 6 | g.131583815A>C | CA452153324 | ARG1,MED23 | c.876A>C (p.Thr292=) c.618A>C (p.Thr206=) c.822A>C (p.Thr274=) c.*763A>C (n.*763A>C) c.621A>C (p.Thr207=) c.4095+3894T>G (n.4095+3894T>G) c.900A>C (p.Thr300=) c.4077+3894T>G (n.4077+3894T>G) n.860A>C | |
| 6 | g.131583815A>G | CA452153325 | ARG1,MED23 | c.876A>G (p.Thr292=) c.618A>G (p.Thr206=) c.822A>G (p.Thr274=) c.*763A>G (n.*763A>G) c.621A>G (p.Thr207=) c.4095+3894T>C (n.4095+3894T>C) c.900A>G (p.Thr300=) c.4077+3894T>C (n.4077+3894T>C) n.860A>G | ClinVar |
| 6 | g.131583815A>T | CA452153326 | ARG1,MED23 | c.876A>T (p.Thr292=) c.618A>T (p.Thr206=) c.822A>T (p.Thr274=) c.*763A>T (n.*763A>T) c.621A>T (p.Thr207=) c.4095+3894T>A (n.4095+3894T>A) c.900A>T (p.Thr300=) c.4077+3894T>A (n.4077+3894T>A) n.860A>T | ClinVar |
| 6 | g.131583816del | CA2695207017 | ARG1,MED23 | c.877del (p.Val293Ter) c.619del (p.Val207Ter) c.823del (p.Val275Ter) c.*764del (n.*764del) c.622del (p.Val208Ter) c.4095+3893del (n.4095+3893del) c.901del (p.Val301Ter) c.4077+3893del (n.4077+3893del) n.861del | ClinVar |
| 6 | g.131583816G>A | CA365653626 | ARG1,MED23 | c.877G>A (p.Val293Met) c.619G>A (p.Val207Met) c.823G>A (p.Val275Met) c.*764G>A (n.*764G>A) c.622G>A (p.Val208Met) c.4095+3893C>T (n.4095+3893C>T) c.901G>A (p.Val301Met) c.4077+3893C>T (n.4077+3893C>T) n.861G>A | |
| 6 | g.131583816G>C | CA3999397 | ARG1,MED23 | c.877G>C (p.Val293Leu) c.619G>C (p.Val207Leu) c.823G>C (p.Val275Leu) c.*764G>C (n.*764G>C) c.622G>C (p.Val208Leu) c.4095+3893C>G (n.4095+3893C>G) c.901G>C (p.Val301Leu) c.4077+3893C>G (n.4077+3893C>G) n.861G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131583816G= | CA1664137857 | ARG1,MED23 | c.877G= (p.Val293=) c.619G= (p.Val207=) c.823G= (p.Val275=) c.*764G= (n.*764G=) c.622G= (p.Val208=) c.4095+3893C= (n.4095+3893C=) c.901G= (p.Val301=) c.4077+3893C= (n.4077+3893C=) n.861G= | |
| 6 | g.131583816G>T | CA365653627 | ARG1,MED23 | c.877G>T (p.Val293Leu) c.619G>T (p.Val207Leu) c.823G>T (p.Val275Leu) c.*764G>T (n.*764G>T) c.622G>T (p.Val208Leu) c.4095+3893C>A (n.4095+3893C>A) c.901G>T (p.Val301Leu) c.4077+3893C>A (n.4077+3893C>A) n.861G>T | |
| 6 | g.131583817T>A | CA365653630 | ARG1,MED23 | c.878T>A (p.Val293Glu) c.620T>A (p.Val207Glu) c.824T>A (p.Val275Glu) c.*765T>A (n.*765T>A) c.623T>A (p.Val208Glu) c.4095+3892A>T (n.4095+3892A>T) c.902T>A (p.Val301Glu) c.4077+3892A>T (n.4077+3892A>T) n.862T>A | dbSNP gnomAD v4 |
| 6 | g.131583817T>C | CA365653628 | ARG1,MED23 | c.878T>C (p.Val293Ala) c.620T>C (p.Val207Ala) c.824T>C (p.Val275Ala) c.*765T>C (n.*765T>C) c.623T>C (p.Val208Ala) c.4095+3892A>G (n.4095+3892A>G) c.902T>C (p.Val301Ala) c.4077+3892A>G (n.4077+3892A>G) n.862T>C | dbSNP gnomAD v4 |
| 6 | g.131583817T>G | CA365653629 | ARG1,MED23 | c.878T>G (p.Val293Gly) c.620T>G (p.Val207Gly) c.824T>G (p.Val275Gly) c.*765T>G (n.*765T>G) c.623T>G (p.Val208Gly) c.4095+3892A>C (n.4095+3892A>C) c.902T>G (p.Val301Gly) c.4077+3892A>C (n.4077+3892A>C) n.862T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131583817T= | CA1664137861 | ARG1,MED23 | c.878T= (p.Val293=) c.620T= (p.Val207=) c.824T= (p.Val275=) c.*765T= (n.*765T=) c.623T= (p.Val208=) c.4095+3892A= (n.4095+3892A=) c.902T= (p.Val301=) c.4077+3892A= (n.4077+3892A=) n.862T= | |
| 6 | g.131583818G>A | CA452153327 | ARG1,MED23 | c.879G>A (p.Val293=) c.621G>A (p.Val207=) c.825G>A (p.Val275=) c.*766G>A (n.*766G>A) c.624G>A (p.Val208=) c.4095+3891C>T (n.4095+3891C>T) c.903G>A (p.Val301=) c.4077+3891C>T (n.4077+3891C>T) n.863G>A | |
| 6 | g.131583818G>C | CA3999398 | ARG1,MED23 | c.879G>C (p.Val293=) c.621G>C (p.Val207=) c.825G>C (p.Val275=) c.*766G>C (n.*766G>C) c.624G>C (p.Val208=) c.4095+3891C>G (n.4095+3891C>G) c.903G>C (p.Val301=) c.4077+3891C>G (n.4077+3891C>G) n.863G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131583818G= | CA1664137865 | ARG1,MED23 | c.879G= (p.Val293=) c.621G= (p.Val207=) c.825G= (p.Val275=) c.*766G= (n.*766G=) c.624G= (p.Val208=) c.4095+3891C= (n.4095+3891C=) c.903G= (p.Val301=) c.4077+3891C= (n.4077+3891C=) n.863G= | |
| 6 | g.131583818G>T | CA452153328 | ARG1,MED23 | c.879G>T (p.Val293=) c.621G>T (p.Val207=) c.825G>T (p.Val275=) c.*766G>T (n.*766G>T) c.624G>T (p.Val208=) c.4095+3891C>A (n.4095+3891C>A) c.903G>T (p.Val301=) c.4077+3891C>A (n.4077+3891C>A) n.863G>T | |
| 6 | g.131583819A>C | CA365653631 | ARG1,MED23 | c.880A>C (p.Asn294His) c.622A>C (p.Asn208His) c.826A>C (p.Asn276His) c.*767A>C (n.*767A>C) c.625A>C (p.Asn209His) c.4095+3890T>G (n.4095+3890T>G) c.904A>C (p.Asn302His) c.4077+3890T>G (n.4077+3890T>G) n.864A>C | |
| 6 | g.131583819A>G | CA365653632 | ARG1,MED23 | c.880A>G (p.Asn294Asp) c.622A>G (p.Asn208Asp) c.826A>G (p.Asn276Asp) c.*767A>G (n.*767A>G) c.625A>G (p.Asn209Asp) c.4095+3890T>C (n.4095+3890T>C) c.904A>G (p.Asn302Asp) c.4077+3890T>C (n.4077+3890T>C) n.864A>G | |
| 6 | g.131583819A>T | CA365653633 | ARG1,MED23 | c.880A>T (p.Asn294Tyr) c.622A>T (p.Asn208Tyr) c.826A>T (p.Asn276Tyr) c.*767A>T (n.*767A>T) c.625A>T (p.Asn209Tyr) c.4095+3890T>A (n.4095+3890T>A) c.904A>T (p.Asn302Tyr) c.4077+3890T>A (n.4077+3890T>A) n.864A>T | |
| 6 | g.131583820A>C | CA365653634 | ARG1,MED23 | c.881A>C (p.Asn294Thr) c.623A>C (p.Asn208Thr) c.827A>C (p.Asn276Thr) c.*768A>C (n.*768A>C) c.626A>C (p.Asn209Thr) c.4095+3889T>G (n.4095+3889T>G) c.905A>C (p.Asn302Thr) c.4077+3889T>G (n.4077+3889T>G) n.865A>C | |
| 6 | g.131583820A>G | CA365653635 | ARG1,MED23 | c.881A>G (p.Asn294Ser) c.623A>G (p.Asn208Ser) c.827A>G (p.Asn276Ser) c.*768A>G (n.*768A>G) c.626A>G (p.Asn209Ser) c.4095+3889T>C (n.4095+3889T>C) c.905A>G (p.Asn302Ser) c.4077+3889T>C (n.4077+3889T>C) n.865A>G | COSMIC |
| 6 | g.131583820A>T | CA365653636 | ARG1,MED23 | c.881A>T (p.Asn294Ile) c.623A>T (p.Asn208Ile) c.827A>T (p.Asn276Ile) c.*768A>T (n.*768A>T) c.626A>T (p.Asn209Ile) c.4095+3889T>A (n.4095+3889T>A) c.905A>T (p.Asn302Ile) c.4077+3889T>A (n.4077+3889T>A) n.865A>T | |
| 6 | g.131583821C>A | CA3999399 | ARG1,MED23 | c.882C>A (p.Asn294Lys) c.624C>A (p.Asn208Lys) c.828C>A (p.Asn276Lys) c.*769C>A (n.*769C>A) c.627C>A (p.Asn209Lys) c.4095+3888G>T (n.4095+3888G>T) c.906C>A (p.Asn302Lys) c.4077+3888G>T (n.4077+3888G>T) n.866C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131583821C= | CA1664137868 | ARG1,MED23 | c.882C= (p.Asn294=) c.624C= (p.Asn208=) c.828C= (p.Asn276=) c.*769C= (n.*769C=) c.627C= (p.Asn209=) c.4095+3888G= (n.4095+3888G=) c.906C= (p.Asn302=) c.4077+3888G= (n.4077+3888G=) n.866C= | |
| 6 | g.131583821C>G | CA365653637 | ARG1,MED23 | c.882C>G (p.Asn294Lys) c.624C>G (p.Asn208Lys) c.828C>G (p.Asn276Lys) c.*769C>G (n.*769C>G) c.627C>G (p.Asn209Lys) c.4095+3888G>C (n.4095+3888G>C) c.906C>G (p.Asn302Lys) c.4077+3888G>C (n.4077+3888G>C) n.866C>G | |
| 6 | g.131583821C>T | CA452153329 | ARG1,MED23 | c.882C>T (p.Asn294=) c.624C>T (p.Asn208=) c.828C>T (p.Asn276=) c.*769C>T (n.*769C>T) c.627C>T (p.Asn209=) c.4095+3888G>A (n.4095+3888G>A) c.906C>T (p.Asn302=) c.4077+3888G>A (n.4077+3888G>A) n.866C>T | |
| 6 | g.131583822A= | CA1664137871 | ARG1,MED23 | c.883A= (p.Thr295=) c.625A= (p.Thr209=) c.829A= (p.Thr277=) c.*770A= (n.*770A=) c.628A= (p.Thr210=) c.4095+3887T= (n.4095+3887T=) c.907A= (p.Thr303=) c.4077+3887T= (n.4077+3887T=) n.867A= | |
| 6 | g.131583822A>C | CA365653638 | ARG1,MED23 | c.883A>C (p.Thr295Pro) c.625A>C (p.Thr209Pro) c.829A>C (p.Thr277Pro) c.*770A>C (n.*770A>C) c.628A>C (p.Thr210Pro) c.4095+3887T>G (n.4095+3887T>G) c.907A>C (p.Thr303Pro) c.4077+3887T>G (n.4077+3887T>G) n.867A>C | |
| 6 | g.131583822A>G | CA3999400 | ARG1,MED23 | c.883A>G (p.Thr295Ala) c.625A>G (p.Thr209Ala) c.829A>G (p.Thr277Ala) c.*770A>G (n.*770A>G) c.628A>G (p.Thr210Ala) c.4095+3887T>C (n.4095+3887T>C) c.907A>G (p.Thr303Ala) c.4077+3887T>C (n.4077+3887T>C) n.867A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131583822A>T | CA365653639 | ARG1,MED23 | c.883A>T (p.Thr295Ser) c.625A>T (p.Thr209Ser) c.829A>T (p.Thr277Ser) c.*770A>T (n.*770A>T) c.628A>T (p.Thr210Ser) c.4095+3887T>A (n.4095+3887T>A) c.907A>T (p.Thr303Ser) c.4077+3887T>A (n.4077+3887T>A) n.867A>T | |
| 6 | g.131583823C>A | CA365653642 | ARG1,MED23 | c.884C>A (p.Thr295Lys) c.626C>A (p.Thr209Lys) c.830C>A (p.Thr277Lys) c.*771C>A (n.*771C>A) c.629C>A (p.Thr210Lys) c.4095+3886G>T (n.4095+3886G>T) c.908C>A (p.Thr303Lys) c.4077+3886G>T (n.4077+3886G>T) n.868C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131583823C= | CA1664137873 | ARG1,MED23 | c.884C= (p.Thr295=) c.626C= (p.Thr209=) c.830C= (p.Thr277=) c.*771C= (n.*771C=) c.629C= (p.Thr210=) c.4095+3886G= (n.4095+3886G=) c.908C= (p.Thr303=) c.4077+3886G= (n.4077+3886G=) n.868C= | |
| 6 | g.131583823C>G | CA365653641 | ARG1,MED23 | c.884C>G (p.Thr295Arg) c.626C>G (p.Thr209Arg) c.830C>G (p.Thr277Arg) c.*771C>G (n.*771C>G) c.629C>G (p.Thr210Arg) c.4095+3886G>C (n.4095+3886G>C) c.908C>G (p.Thr303Arg) c.4077+3886G>C (n.4077+3886G>C) n.868C>G | |
| 6 | g.131583823C>T | CA365653640 | ARG1,MED23 | c.884C>T (p.Thr295Ile) c.626C>T (p.Thr209Ile) c.830C>T (p.Thr277Ile) c.*771C>T (n.*771C>T) c.629C>T (p.Thr210Ile) c.4095+3886G>A (n.4095+3886G>A) c.908C>T (p.Thr303Ile) c.4077+3886G>A (n.4077+3886G>A) n.868C>T | |
| 6 | g.131583824A= | CA1664137875 | ARG1,MED23 | c.885A= (p.Thr295=) c.627A= (p.Thr209=) c.831A= (p.Thr277=) c.*772A= (n.*772A=) c.630A= (p.Thr210=) c.4095+3885T= (n.4095+3885T=) c.909A= (p.Thr303=) c.4077+3885T= (n.4077+3885T=) n.869A= | |
| 6 | g.131583824A>C | CA452153330 | ARG1,MED23 | c.885A>C (p.Thr295=) c.627A>C (p.Thr209=) c.831A>C (p.Thr277=) c.*772A>C (n.*772A>C) c.630A>C (p.Thr210=) c.4095+3885T>G (n.4095+3885T>G) c.909A>C (p.Thr303=) c.4077+3885T>G (n.4077+3885T>G) n.869A>C | |
| 6 | g.131583824A>G | CA3999401 | ARG1,MED23 | c.885A>G (p.Thr295=) c.627A>G (p.Thr209=) c.831A>G (p.Thr277=) c.*772A>G (n.*772A>G) c.630A>G (p.Thr210=) c.4095+3885T>C (n.4095+3885T>C) c.909A>G (p.Thr303=) c.4077+3885T>C (n.4077+3885T>C) n.869A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131583824A>T | CA452153331 | ARG1,MED23 | c.885A>T (p.Thr295=) c.627A>T (p.Thr209=) c.831A>T (p.Thr277=) c.*772A>T (n.*772A>T) c.630A>T (p.Thr210=) c.4095+3885T>A (n.4095+3885T>A) c.909A>T (p.Thr303=) c.4077+3885T>A (n.4077+3885T>A) n.869A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131583825G>A | CA365653643 | ARG1,MED23 | c.886G>A (p.Ala296Thr) c.628G>A (p.Ala210Thr) c.832G>A (p.Ala278Thr) c.*773G>A (n.*773G>A) c.631G>A (p.Ala211Thr) c.4095+3884C>T (n.4095+3884C>T) c.910G>A (p.Ala304Thr) c.4077+3884C>T (n.4077+3884C>T) n.870G>A | |
| 6 | g.131583825G>C | CA365653645 | ARG1,MED23 | c.886G>C (p.Ala296Pro) c.628G>C (p.Ala210Pro) c.832G>C (p.Ala278Pro) c.*773G>C (n.*773G>C) c.631G>C (p.Ala211Pro) c.4095+3884C>G (n.4095+3884C>G) c.910G>C (p.Ala304Pro) c.4077+3884C>G (n.4077+3884C>G) n.870G>C | |
| 6 | g.131583825G>T | CA365653644 | ARG1,MED23 | c.886G>T (p.Ala296Ser) c.628G>T (p.Ala210Ser) c.832G>T (p.Ala278Ser) c.*773G>T (n.*773G>T) c.631G>T (p.Ala211Ser) c.4095+3884C>A (n.4095+3884C>A) c.910G>T (p.Ala304Ser) c.4077+3884C>A (n.4077+3884C>A) n.870G>T | |
| 6 | g.131583826C>A | CA365653646 | ARG1,MED23 | c.887C>A (p.Ala296Glu) c.629C>A (p.Ala210Glu) c.833C>A (p.Ala278Glu) c.*774C>A (n.*774C>A) c.632C>A (p.Ala211Glu) c.4095+3883G>T (n.4095+3883G>T) c.911C>A (p.Ala304Glu) c.4077+3883G>T (n.4077+3883G>T) n.871C>A | |
| 6 | g.131583826C>G | CA365653647 | ARG1,MED23 | c.887C>G (p.Ala296Gly) c.629C>G (p.Ala210Gly) c.833C>G (p.Ala278Gly) c.*774C>G (n.*774C>G) c.632C>G (p.Ala211Gly) c.4095+3883G>C (n.4095+3883G>C) c.911C>G (p.Ala304Gly) c.4077+3883G>C (n.4077+3883G>C) n.871C>G |