| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.13492587G>A | CA5893182 | PTH | c.166C>T (p.Arg56Cys) c.262C>T (p.Arg88Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492587G>C | CA379724700 | PTH | c.166C>G (p.Arg56Gly) c.262C>G (p.Arg88Gly) | |
| 11 | g.13492587G= | CA1953324307 | PTH | c.166C= (p.Arg56=) c.262C= (p.Arg88=) | |
| 11 | g.13492587G>T | CA379724699 | PTH | c.166C>A (p.Arg56Ser) c.262C>A (p.Arg88Ser) | |
| 11 | g.13492588C>A | CA473263540 | PTH | c.165G>T (p.Leu55=) c.261G>T (p.Leu87=) | |
| 11 | g.13492588C= | CA1953324316 | PTH | c.165G= (p.Leu55=) c.261G= (p.Leu87=) | |
| 11 | g.13492588C>G | CA473263538 | PTH | c.165G>C (p.Leu55=) c.261G>C (p.Leu87=) | gnomAD v4 |
| 11 | g.13492588C>T | CA473263539 | PTH | c.165G>A (p.Leu55=) c.261G>A (p.Leu87=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492589A>C | CA379724701 | PTH | c.164T>G (p.Leu55Arg) c.260T>G (p.Leu87Arg) | |
| 11 | g.13492589A>G | CA379724702 | PTH | c.164T>C (p.Leu55Pro) c.260T>C (p.Leu87Pro) | |
| 11 | g.13492589A>T | CA379724703 | PTH | c.164T>A (p.Leu55Gln) c.260T>A (p.Leu87Gln) | |
| 11 | g.13492590G>A | CA473263541 | PTH | c.163C>T (p.Leu55=) c.259C>T (p.Leu87=) | |
| 11 | g.13492590G>C | CA379724704 | PTH | c.163C>G (p.Leu55Val) c.259C>G (p.Leu87Val) | |
| 11 | g.13492590G>T | CA379724705 | PTH | c.163C>A (p.Leu55Met) c.259C>A (p.Leu87Met) | |
| 11 | g.13492591C>A | CA379724706 | PTH | c.162G>T (p.Trp54Cys) c.258G>T (p.Trp86Cys) | |
| 11 | g.13492591C>G | CA379724707 | PTH | c.162G>C (p.Trp54Cys) c.258G>C (p.Trp86Cys) | |
| 11 | g.13492591C>T | CA379724708 | PTH | c.162G>A (p.Trp54Ter) c.258G>A (p.Trp86Ter) | gnomAD v4 |
| 11 | g.13492591_13492592insTGACCTCGGGTTTTTGCCGAGTACGCCAGCTGGTTGTACACGATGGTTTTAGCGCGCGTGTACGGGTCTGTTTCTTCCGCGGCTCGGGCGGCACGCACCTTCTGCTTCCAGGAGGGCA | CA912971812 | PTH | c.161_162insTGCCCTCCTGGAAGCAGAAGGTGCGTGCCGCCCGAGCCGCGGAAGAAACAGACCCGTACACGCGCGCTAAAACCATCGTGTACAACCAGCTGGCGTACTCGGCAAAAACCCGAGGTCA (p.Trp54CysfsTer24) c.257_258insTGCCCTCCTGGAAGCAGAAGGTGCGTGCCGCCCGAGCCGCGGAAGAAACAGACCCGTACACGCGCGCTAAAACCATCGTGTACAACCAGCTGGCGTACTCGGCAAAAACCCGAGGTCA (p.Trp86CysfsTer24) | |
| 11 | g.13492592C>A | CA379724709 | PTH | c.161G>T (p.Trp54Leu) c.257G>T (p.Trp86Leu) | |
| 11 | g.13492592C>G | CA379724710 | PTH | c.161G>C (p.Trp54Ser) c.257G>C (p.Trp86Ser) | |
| 11 | g.13492592C>T | CA379724711 | PTH | c.161G>A (p.Trp54Ter) c.257G>A (p.Trp86Ter) | dbSNP COSMIC |
| 11 | g.13492593A= | CA1953324321 | PTH | c.160T= (p.Trp54=) c.256T= (p.Trp86=) | |
| 11 | g.13492593A>C | CA379724713 | PTH | c.160T>G (p.Trp54Gly) c.256T>G (p.Trp86Gly) | |
| 11 | g.13492593A>G | CA5893183 | PTH | c.160T>C (p.Trp54Arg) c.256T>C (p.Trp86Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492593A>T | CA379724712 | PTH | c.160T>A (p.Trp54Arg) c.256T>A (p.Trp86Arg) | |
| 11 | g.13492594T>A | CA379724714 | PTH | c.159A>T (p.Glu53Asp) c.255A>T (p.Glu85Asp) | |
| 11 | g.13492594T>C | CA473263542 | PTH | c.159A>G (p.Glu53=) c.255A>G (p.Glu85=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492594T>G | CA379724715 | PTH | c.159A>C (p.Glu53Asp) c.255A>C (p.Glu85Asp) | |
| 11 | g.13492594T= | CA1953324325 | PTH | c.159A= (p.Glu53=) c.255A= (p.Glu85=) | |
| 11 | g.13492595T>A | CA379724716 | PTH | c.158A>T (p.Glu53Val) c.254A>T (p.Glu85Val) | |
| 11 | g.13492595T>C | CA379724717 | PTH | c.158A>G (p.Glu53Gly) c.254A>G (p.Glu85Gly) | |
| 11 | g.13492595T>G | CA379724718 | PTH | c.158A>C (p.Glu53Ala) c.254A>C (p.Glu85Ala) | gnomAD v4 |
| 11 | g.13492596C>A | CA379724719 | PTH | c.157G>T (p.Glu53Ter) c.253G>T (p.Glu85Ter) | |
| 11 | g.13492596C= | CA1953324329 | PTH | c.157G= (p.Glu53=) c.253G= (p.Glu85=) | |
| 11 | g.13492596C>G | CA5893184 | PTH | c.157G>C (p.Glu53Gln) c.253G>C (p.Glu85Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492596C>T | CA379724720 | PTH | c.157G>A (p.Glu53Lys) c.253G>A (p.Glu85Lys) | |
| 11 | g.13492598_13492600del | CA2612561044 | PTH | c.155_157del (p.Val52del) c.251_253del (p.Val84del) | gnomAD v4 |
| 11 | g.13492597T>A | CA473263543 | PTH | c.156A>T (p.Val52=) c.252A>T (p.Val84=) | |
| 11 | g.13492597T>C | CA473263544 | PTH | c.156A>G (p.Val52=) c.252A>G (p.Val84=) | |
| 11 | g.13492597T>G | CA473263545 | PTH | c.156A>C (p.Val52=) c.252A>C (p.Val84=) | |
| 11 | g.13492598A= | CA1953324333 | PTH | c.155T= (p.Val52=) c.251T= (p.Val84=) | |
| 11 | g.13492598A>C | CA379724722 | PTH | c.155T>G (p.Val52Gly) c.251T>G (p.Val84Gly) | gnomAD v4 |
| 11 | g.13492598A>G | CA379724721 | PTH | c.155T>C (p.Val52Ala) c.251T>C (p.Val84Ala) | gnomAD v4 |
| 11 | g.13492598A>T | CA5893185 | PTH | c.155T>A (p.Val52Glu) c.251T>A (p.Val84Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492599C>A | CA379724723 | PTH | c.154G>T (p.Val52Leu) c.250G>T (p.Val84Leu) | |
| 11 | g.13492599C>G | CA379724724 | PTH | c.154G>C (p.Val52Leu) c.250G>C (p.Val84Leu) | |
| 11 | g.13492599C>T | CA379724725 | PTH | c.154G>A (p.Val52Ile) c.250G>A (p.Val84Ile) | gnomAD v4 |
| 11 | g.13492600T>A | CA379724726 | PTH | c.153A>T (p.Arg51Ser) c.249A>T (p.Arg83Ser) | |
| 11 | g.13492600T>C | CA473263546 | PTH | c.153A>G (p.Arg51=) c.249A>G (p.Arg83=) | dbSNP gnomAD v2 |
| 11 | g.13492600T>G | CA379724727 | PTH | c.153A>C (p.Arg51Ser) c.249A>C (p.Arg83Ser) |