Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.238273185T>A | CA351264522 | PER2 | c.455A>T (p.Glu152Val) | |
2 | g.238273185T>C | CA351264520 | PER2 | c.455A>G (p.Glu152Gly) | |
2 | g.238273185T>G | CA351264519 | PER2 | c.455A>C (p.Glu152Ala) | |
2 | g.238273186C>A | CA351264523 | PER2 | c.454G>T (p.Glu152Ter) | |
2 | g.238273186C>G | CA351264525 | PER2 | c.454G>C (p.Glu152Gln) | |
2 | g.238273186C>T | CA351264526 | PER2 | c.454G>A (p.Glu152Lys) | |
2 | g.238273187A>C | CA351264528 | PER2 | c.453T>G (p.Asn151Lys) | |
2 | g.238273187A>G | CA431996356 | PER2 | c.453T>C (p.Asn151=) | |
2 | g.238273187A>T | CA351264530 | PER2 | c.453T>A (p.Asn151Lys) | |
2 | g.238273188T>A | CA351264532 | PER2 | c.452A>T (p.Asn151Ile) | |
2 | g.238273188T>C | CA2197766 | PER2 | c.452A>G (p.Asn151Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.238273188T>G | CA351264534 | PER2 | c.452A>C (p.Asn151Thr) | |
2 | g.238273188T= | CA1338047156 | PER2 | c.452A= (p.Asn151=) | |
2 | g.238273189T>A | CA351264536 | PER2 | c.451A>T (p.Asn151Tyr) | |
2 | g.238273189T>C | CA351264538 | PER2 | c.451A>G (p.Asn151Asp) | |
2 | g.238273189T>G | CA351264539 | PER2 | c.451A>C (p.Asn151His) | |
2 | g.238273190G>A | CA431996357 | PER2 | c.450C>T (p.Ala150=) | dbSNP |
2 | g.238273190G>C | CA431996358 | PER2 | c.450C>G (p.Ala150=) | |
2 | g.238273190G= | CA1338047157 | PER2 | c.450C= (p.Ala150=) | |
2 | g.238273190G>T | CA431996359 | PER2 | c.450C>A (p.Ala150=) | |
2 | g.238273191G>A | CA351264550 | PER2 | c.449C>T (p.Ala150Val) | gnomAD v4 |
2 | g.238273191G>C | CA351264543 | PER2 | c.449C>G (p.Ala150Gly) | |
2 | g.238273191G>T | CA351264542 | PER2 | c.449C>A (p.Ala150Asp) | |
2 | g.238273192C>A | CA351264553 | PER2 | c.449-1G>T (n.449-1G>T) | |
2 | g.238273192C>G | CA351264555 | PER2 | c.449-1G>C (n.449-1G>C) | |
2 | g.238273192C>T | CA351264557 | PER2 | c.449-1G>A (n.449-1G>A) | |
2 | g.238273193T>A | CA351264559 | PER2 | c.449-2A>T (n.449-2A>T) | |
2 | g.238273193T>C | CA351264561 | PER2 | c.449-2A>G (n.449-2A>G) | |
2 | g.238273193T>G | CA351264563 | PER2 | c.449-2A>C (n.449-2A>C) | |
2 | g.238273194G>C | CA2577295341 | PER2 | c.449-3C>G (n.449-3C>G) | |
2 | g.238273195_238273196insCTTCCCCTCCTTCCCTTTGCCATCTCACTTCCCTACTTCTCTATTGGTGTTTCCC | CA2740380958 | PER2 | c.449-4_449-3insGGAAACACCAATAGAGAAGTAGGGAAGTGAGATGGCAAAGGGAAGGAGGGGAAGG (n.449-4_449-3insGGAAACACCAATAGAGAAGTAGGGAAGTGAGATGGCAAAGGGAAGGAGGGGAAGG) | |
2 | g.238273196del | CA2520060847 | PER2 | c.449-5del (n.449-5del) | |
2 | g.238273196A>T | CA431996360 | PER2 | c.449-5T>A (n.449-5T>A) | |
2 | g.238273198G>A | CA2197767 | PER2 | c.449-7C>T (n.449-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.238273198G= | CA1338047158 | PER2 | c.449-7C= (n.449-7C=) | |
2 | g.238273199A= | CA1338047159 | PER2 | c.449-8T= (n.449-8T=) | |
2 | g.238273199A>G | CA540496424 | PER2 | c.449-8T>C (n.449-8T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.238273200G>C | CA2663887106 | PER2 | c.449-9C>G (n.449-9C>G) | gnomAD v4 |
2 | g.238273201A= | CA1338047160 | PER2 | c.449-10T= (n.449-10T=) | |
2 | g.238273201A>G | CA2197768 | PER2 | c.449-10T>C (n.449-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.238273202G>A | CA2197770 | PER2 | c.449-11C>T (n.449-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.238273202G>C | CA2197769 | PER2 | c.449-11C>G (n.449-11C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.238273202G= | CA1338047161 | PER2 | c.449-11C= (n.449-11C=) | |
2 | g.238273204C= | CA1338047162 | PER2 | c.449-13G= (n.449-13G=) | |
2 | g.238273204C>G | CA2197771 | PER2 | c.449-13G>C (n.449-13G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.238273204C>T | CA2663887110 | PER2 | c.449-13G>A (n.449-13G>A) | gnomAD v4 |
2 | g.238273206G>C | CA2663887111 | PER2 | c.449-15C>G (n.449-15C>G) | gnomAD v4 |
2 | g.238273206G= | CA1338047163 | PER2 | c.449-15C= (n.449-15C=) | |
2 | g.238273206G>T | CA540496429 | PER2 | c.449-15C>A (n.449-15C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.238273207T>C | CA540496431 | PER2 | c.449-16A>G (n.449-16A>G) | dbSNP gnomAD v2 gnomAD v4 |