Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.70766088_70766090del | CA2683160769 | AUTS2 | c.1469-26_1469-24del (n.1469-26_1469-24del) c.-197-26_-197-24del (n.-197-26_-197-24del) c.95-26_95-24del (n.95-26_95-24del) c.1466-26_1466-24del (n.1466-26_1466-24del) c.313-26_313-24del c.94-26_94-24del n.76-26_76-24del c.725-26_725-24del (n.725-26_725-24del) c.1178-26_1178-24del (n.1178-26_1178-24del) c.995-26_995-24del (n.995-26_995-24del) c.968-26_968-24del (n.968-26_968-24del) | gnomAD v4 |
7 | g.70766087C>A | CA2683160771 | AUTS2 | c.1469-27C>A (n.1469-27C>A) c.-197-27C>A (n.-197-27C>A) c.95-27C>A (n.95-27C>A) c.1466-27C>A (n.1466-27C>A) c.313-27C>A c.94-27C>A n.76-27C>A c.725-27C>A (n.725-27C>A) c.1178-27C>A (n.1178-27C>A) c.995-27C>A (n.995-27C>A) c.968-27C>A (n.968-27C>A) | gnomAD v4 |
7 | g.70766088A>G | CA2683160772 | AUTS2 | c.1469-26A>G (n.1469-26A>G) c.-197-26A>G (n.-197-26A>G) c.95-26A>G (n.95-26A>G) c.1466-26A>G (n.1466-26A>G) c.313-26A>G c.94-26A>G n.76-26A>G c.725-26A>G (n.725-26A>G) c.1178-26A>G (n.1178-26A>G) c.995-26A>G (n.995-26A>G) c.968-26A>G (n.968-26A>G) | gnomAD v4 |
7 | g.70766089T>C | CA1716165847 | AUTS2 | c.1469-25T>C (n.1469-25T>C) c.-197-25T>C (n.-197-25T>C) c.95-25T>C (n.95-25T>C) c.1466-25T>C (n.1466-25T>C) c.313-25T>C c.94-25T>C n.76-25T>C c.725-25T>C (n.725-25T>C) c.1178-25T>C (n.1178-25T>C) c.995-25T>C (n.995-25T>C) c.968-25T>C (n.968-25T>C) | dbSNP |
7 | g.70766089T= | CA1716165845 | AUTS2 | c.1469-25T= (n.1469-25T=) c.-197-25T= (n.-197-25T=) c.95-25T= (n.95-25T=) c.1466-25T= (n.1466-25T=) c.313-25T= c.94-25T= n.76-25T= c.725-25T= (n.725-25T=) c.1178-25T= (n.1178-25T=) c.995-25T= (n.995-25T=) c.968-25T= (n.968-25T=) | |
7 | g.70766090C= | CA1716165850 | AUTS2 | c.1469-24C= (n.1469-24C=) c.-197-24C= (n.-197-24C=) c.95-24C= (n.95-24C=) c.1466-24C= (n.1466-24C=) c.313-24C= c.94-24C= n.76-24C= c.725-24C= (n.725-24C=) c.1178-24C= (n.1178-24C=) c.995-24C= (n.995-24C=) c.968-24C= (n.968-24C=) | |
7 | g.70766090C>T | CA4280679 | AUTS2 | c.1469-24C>T (n.1469-24C>T) c.-197-24C>T (n.-197-24C>T) c.95-24C>T (n.95-24C>T) c.1466-24C>T (n.1466-24C>T) c.313-24C>T c.94-24C>T n.76-24C>T c.725-24C>T (n.725-24C>T) c.1178-24C>T (n.1178-24C>T) c.995-24C>T (n.995-24C>T) c.968-24C>T (n.968-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.70766091G>A | CA4280680 | AUTS2 | c.1469-23G>A (n.1469-23G>A) c.-197-23G>A (n.-197-23G>A) c.95-23G>A (n.95-23G>A) c.1466-23G>A (n.1466-23G>A) c.313-23G>A c.94-23G>A n.76-23G>A c.725-23G>A (n.725-23G>A) c.1178-23G>A (n.1178-23G>A) c.995-23G>A (n.995-23G>A) c.968-23G>A (n.968-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.70766091G= | CA1716165854 | AUTS2 | c.1469-23G= (n.1469-23G=) c.-197-23G= (n.-197-23G=) c.95-23G= (n.95-23G=) c.1466-23G= (n.1466-23G=) c.313-23G= c.94-23G= n.76-23G= c.725-23G= (n.725-23G=) c.1178-23G= (n.1178-23G=) c.995-23G= (n.995-23G=) c.968-23G= (n.968-23G=) | |
7 | g.70766091G>T | CA2683160773 | AUTS2 | c.1469-23G>T (n.1469-23G>T) c.-197-23G>T (n.-197-23G>T) c.95-23G>T (n.95-23G>T) c.1466-23G>T (n.1466-23G>T) c.313-23G>T c.94-23G>T n.76-23G>T c.725-23G>T (n.725-23G>T) c.1178-23G>T (n.1178-23G>T) c.995-23G>T (n.995-23G>T) c.968-23G>T (n.968-23G>T) | gnomAD v4 |
7 | g.70766092T>C | CA841709362 | AUTS2 | c.1469-22T>C (n.1469-22T>C) c.-197-22T>C (n.-197-22T>C) c.95-22T>C (n.95-22T>C) c.1466-22T>C (n.1466-22T>C) c.313-22T>C c.94-22T>C n.76-22T>C c.725-22T>C (n.725-22T>C) c.1178-22T>C (n.1178-22T>C) c.995-22T>C (n.995-22T>C) c.968-22T>C (n.968-22T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.70766092T= | CA1716165855 | AUTS2 | c.1469-22T= (n.1469-22T=) c.-197-22T= (n.-197-22T=) c.95-22T= (n.95-22T=) c.1466-22T= (n.1466-22T=) c.313-22T= c.94-22T= n.76-22T= c.725-22T= (n.725-22T=) c.1178-22T= (n.1178-22T=) c.995-22T= (n.995-22T=) c.968-22T= (n.968-22T=) | |
7 | g.70766092_70766096delinsTCTCC | CA1716165858 | AUTS2 | c.1469-22_1469-18delinsTCTCC (n.1469-22_1469-18delinsTCTCC) c.-197-22_-197-18delinsTCTCC (n.-197-22_-197-18delinsTCTCC) c.95-22_95-18delinsTCTCC (n.95-22_95-18delinsTCTCC) c.1466-22_1466-18delinsTCTCC (n.1466-22_1466-18delinsTCTCC) c.313-22_313-18delinsTCTCC c.94-22_94-18delinsTCTCC n.76-22_76-18delinsTCTCC c.725-22_725-18delinsTCTCC (n.725-22_725-18delinsTCTCC) c.1178-22_1178-18delinsTCTCC (n.1178-22_1178-18delinsTCTCC) c.995-22_995-18delinsTCTCC (n.995-22_995-18delinsTCTCC) c.968-22_968-18delinsTCTCC (n.968-22_968-18delinsTCTCC) | |
7 | g.70766093C= | CA1716165871 | AUTS2 | c.1469-21C= (n.1469-21C=) c.-197-21C= (n.-197-21C=) c.95-21C= (n.95-21C=) c.1466-21C= (n.1466-21C=) c.313-21C= c.94-21C= n.76-21C= c.725-21C= (n.725-21C=) c.1178-21C= (n.1178-21C=) c.995-21C= (n.995-21C=) c.968-21C= (n.968-21C=) | |
7 | g.70766093C>T | CA575547023 | AUTS2 | c.1469-21C>T (n.1469-21C>T) c.-197-21C>T (n.-197-21C>T) c.95-21C>T (n.95-21C>T) c.1466-21C>T (n.1466-21C>T) c.313-21C>T c.94-21C>T n.76-21C>T c.725-21C>T (n.725-21C>T) c.1178-21C>T (n.1178-21C>T) c.995-21C>T (n.995-21C>T) c.968-21C>T (n.968-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.70766096_70766099del | CA918037504 | AUTS2 | c.1469-18_1469-15del (n.1469-18_1469-15del) c.-197-18_-197-15del (n.-197-18_-197-15del) c.95-18_95-15del (n.95-18_95-15del) c.1466-18_1466-15del (n.1466-18_1466-15del) c.313-18_313-15del c.94-18_94-15del n.76-18_76-15del c.725-18_725-15del (n.725-18_725-15del) c.1178-18_1178-15del (n.1178-18_1178-15del) c.995-18_995-15del (n.995-18_995-15del) c.968-18_968-15del (n.968-18_968-15del) | dbSNP |
7 | g.70766094T>C | CA575547024 | AUTS2 | c.1469-20T>C (n.1469-20T>C) c.-197-20T>C (n.-197-20T>C) c.95-20T>C (n.95-20T>C) c.1466-20T>C (n.1466-20T>C) c.313-20T>C c.94-20T>C n.76-20T>C c.725-20T>C (n.725-20T>C) c.1178-20T>C (n.1178-20T>C) c.995-20T>C (n.995-20T>C) c.968-20T>C (n.968-20T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.70766094T= | CA1716165874 | AUTS2 | c.1469-20T= (n.1469-20T=) c.-197-20T= (n.-197-20T=) c.95-20T= (n.95-20T=) c.1466-20T= (n.1466-20T=) c.313-20T= c.94-20T= n.76-20T= c.725-20T= (n.725-20T=) c.1178-20T= (n.1178-20T=) c.995-20T= (n.995-20T=) c.968-20T= (n.968-20T=) | |
7 | g.70766095C= | CA1716165876 | AUTS2 | c.1469-19C= (n.1469-19C=) c.-197-19C= (n.-197-19C=) c.95-19C= (n.95-19C=) c.1466-19C= (n.1466-19C=) c.313-19C= c.94-19C= n.76-19C= c.725-19C= (n.725-19C=) c.1178-19C= (n.1178-19C=) c.995-19C= (n.995-19C=) c.968-19C= (n.968-19C=) | |
7 | g.70766095C>G | CA1716165880 | AUTS2 | c.1469-19C>G (n.1469-19C>G) c.-197-19C>G (n.-197-19C>G) c.95-19C>G (n.95-19C>G) c.1466-19C>G (n.1466-19C>G) c.313-19C>G c.94-19C>G n.76-19C>G c.725-19C>G (n.725-19C>G) c.1178-19C>G (n.1178-19C>G) c.995-19C>G (n.995-19C>G) c.968-19C>G (n.968-19C>G) | dbSNP |
7 | g.70766095C>T | CA4280681 | AUTS2 | c.1469-19C>T (n.1469-19C>T) c.-197-19C>T (n.-197-19C>T) c.95-19C>T (n.95-19C>T) c.1466-19C>T (n.1466-19C>T) c.313-19C>T c.94-19C>T n.76-19C>T c.725-19C>T (n.725-19C>T) c.1178-19C>T (n.1178-19C>T) c.995-19C>T (n.995-19C>T) c.968-19C>T (n.968-19C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70766097C= | CA1716165888 | AUTS2 | c.1469-17C= (n.1469-17C=) c.-197-17C= (n.-197-17C=) c.95-17C= (n.95-17C=) c.1466-17C= (n.1466-17C=) c.313-17C= c.94-17C= n.76-17C= c.725-17C= (n.725-17C=) c.1178-17C= (n.1178-17C=) c.995-17C= (n.995-17C=) c.968-17C= (n.968-17C=) | |
7 | g.70766097C>G | CA4280683 | AUTS2 | c.1469-17C>G (n.1469-17C>G) c.-197-17C>G (n.-197-17C>G) c.95-17C>G (n.95-17C>G) c.1466-17C>G (n.1466-17C>G) c.313-17C>G c.94-17C>G n.76-17C>G c.725-17C>G (n.725-17C>G) c.1178-17C>G (n.1178-17C>G) c.995-17C>G (n.995-17C>G) c.968-17C>G (n.968-17C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70766097C>T | CA841709368 | AUTS2 | c.1469-17C>T (n.1469-17C>T) c.-197-17C>T (n.-197-17C>T) c.95-17C>T (n.95-17C>T) c.1466-17C>T (n.1466-17C>T) c.313-17C>T c.94-17C>T n.76-17C>T c.725-17C>T (n.725-17C>T) c.1178-17C>T (n.1178-17C>T) c.995-17C>T (n.995-17C>T) c.968-17C>T (n.968-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.70766097_70766100delinsCTCT | CA1716165884 | AUTS2 | c.1469-17_1469-14delinsCTCT (n.1469-17_1469-14delinsCTCT) c.-197-17_-197-14delinsCTCT (n.-197-17_-197-14delinsCTCT) c.95-17_95-14delinsCTCT (n.95-17_95-14delinsCTCT) c.1466-17_1466-14delinsCTCT (n.1466-17_1466-14delinsCTCT) c.313-17_313-14delinsCTCT c.94-17_94-14delinsCTCT n.76-17_76-14delinsCTCT c.725-17_725-14delinsCTCT (n.725-17_725-14delinsCTCT) c.1178-17_1178-14delinsCTCT (n.1178-17_1178-14delinsCTCT) c.995-17_995-14delinsCTCT (n.995-17_995-14delinsCTCT) c.968-17_968-14delinsCTCT (n.968-17_968-14delinsCTCT) | |
7 | g.70766104_70766106del | CA4280682 | AUTS2 | c.1469-10_1469-8del (n.1469-10_1469-8del) c.-197-10_-197-8del (n.-197-10_-197-8del) c.95-10_95-8del (n.95-10_95-8del) c.1466-10_1466-8del (n.1466-10_1466-8del) c.313-10_313-8del c.94-10_94-8del n.76-10_76-8del c.725-10_725-8del (n.725-10_725-8del) c.1178-10_1178-8del (n.1178-10_1178-8del) c.995-10_995-8del (n.995-10_995-8del) c.968-10_968-8del (n.968-10_968-8del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.70766099C>G | CA2683160774 | AUTS2 | c.1469-15C>G (n.1469-15C>G) c.-197-15C>G (n.-197-15C>G) c.95-15C>G (n.95-15C>G) c.1466-15C>G (n.1466-15C>G) c.313-15C>G c.94-15C>G n.76-15C>G c.725-15C>G (n.725-15C>G) c.1178-15C>G (n.1178-15C>G) c.995-15C>G (n.995-15C>G) c.968-15C>G (n.968-15C>G) | gnomAD v4 |
7 | g.70766100T>C | CA575547025 | AUTS2 | c.1469-14T>C (n.1469-14T>C) c.-197-14T>C (n.-197-14T>C) c.95-14T>C (n.95-14T>C) c.1466-14T>C (n.1466-14T>C) c.313-14T>C c.94-14T>C n.76-14T>C c.725-14T>C (n.725-14T>C) c.1178-14T>C (n.1178-14T>C) c.995-14T>C (n.995-14T>C) c.968-14T>C (n.968-14T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.70766100T= | CA1716165891 | AUTS2 | c.1469-14T= (n.1469-14T=) c.-197-14T= (n.-197-14T=) c.95-14T= (n.95-14T=) c.1466-14T= (n.1466-14T=) c.313-14T= c.94-14T= n.76-14T= c.725-14T= (n.725-14T=) c.1178-14T= (n.1178-14T=) c.995-14T= (n.995-14T=) c.968-14T= (n.968-14T=) | |
7 | g.70766102C= | CA1716165894 | AUTS2 | c.1469-12C= (n.1469-12C=) c.-197-12C= (n.-197-12C=) c.95-12C= (n.95-12C=) c.1466-12C= (n.1466-12C=) c.313-12C= c.94-12C= n.76-12C= c.725-12C= (n.725-12C=) c.1178-12C= (n.1178-12C=) c.995-12C= (n.995-12C=) c.968-12C= (n.968-12C=) | |
7 | g.70766102C>G | CA4280684 | AUTS2 | c.1469-12C>G (n.1469-12C>G) c.-197-12C>G (n.-197-12C>G) c.95-12C>G (n.95-12C>G) c.1466-12C>G (n.1466-12C>G) c.313-12C>G c.94-12C>G n.76-12C>G c.725-12C>G (n.725-12C>G) c.1178-12C>G (n.1178-12C>G) c.995-12C>G (n.995-12C>G) c.968-12C>G (n.968-12C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.70766103T>A | CA2683160775 | AUTS2 | c.1469-11T>A (n.1469-11T>A) c.-197-11T>A (n.-197-11T>A) c.95-11T>A (n.95-11T>A) c.1466-11T>A (n.1466-11T>A) c.313-11T>A c.94-11T>A n.76-11T>A c.725-11T>A (n.725-11T>A) c.1178-11T>A (n.1178-11T>A) c.995-11T>A (n.995-11T>A) c.968-11T>A (n.968-11T>A) | gnomAD v4 |
7 | g.70766103T>C | CA2683160776 | AUTS2 | c.1469-11T>C (n.1469-11T>C) c.-197-11T>C (n.-197-11T>C) c.95-11T>C (n.95-11T>C) c.1466-11T>C (n.1466-11T>C) c.313-11T>C c.94-11T>C n.76-11T>C c.725-11T>C (n.725-11T>C) c.1178-11T>C (n.1178-11T>C) c.995-11T>C (n.995-11T>C) c.968-11T>C (n.968-11T>C) | gnomAD v4 |
7 | g.70766105C= | CA1716165896 | AUTS2 | c.1469-9C= (n.1469-9C=) c.-197-9C= (n.-197-9C=) c.95-9C= (n.95-9C=) c.1466-9C= (n.1466-9C=) c.313-9C= c.94-9C= n.76-9C= c.725-9C= (n.725-9C=) c.1178-9C= (n.1178-9C=) c.995-9C= (n.995-9C=) c.968-9C= (n.968-9C=) | |
7 | g.70766105C>G | CA4280685 | AUTS2 | c.1469-9C>G (n.1469-9C>G) c.-197-9C>G (n.-197-9C>G) c.95-9C>G (n.95-9C>G) c.1466-9C>G (n.1466-9C>G) c.313-9C>G c.94-9C>G n.76-9C>G c.725-9C>G (n.725-9C>G) c.1178-9C>G (n.1178-9C>G) c.995-9C>G (n.995-9C>G) c.968-9C>G (n.968-9C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70766106T>A | CA1102747996 | AUTS2 | c.1469-8T>A (n.1469-8T>A) c.-197-8T>A (n.-197-8T>A) c.95-8T>A (n.95-8T>A) c.1466-8T>A (n.1466-8T>A) c.313-8T>A c.94-8T>A n.76-8T>A c.725-8T>A (n.725-8T>A) c.1178-8T>A (n.1178-8T>A) c.995-8T>A (n.995-8T>A) c.968-8T>A (n.968-8T>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.70766106T= | CA1716165899 | AUTS2 | c.1469-8T= (n.1469-8T=) c.-197-8T= (n.-197-8T=) c.95-8T= (n.95-8T=) c.1466-8T= (n.1466-8T=) c.313-8T= c.94-8T= n.76-8T= c.725-8T= (n.725-8T=) c.1178-8T= (n.1178-8T=) c.995-8T= (n.995-8T=) c.968-8T= (n.968-8T=) | |
7 | g.70766107C>T | CA2683160777 | AUTS2 | c.1469-7C>T (n.1469-7C>T) c.-197-7C>T (n.-197-7C>T) c.95-7C>T (n.95-7C>T) c.1466-7C>T (n.1466-7C>T) c.313-7C>T c.94-7C>T n.76-7C>T c.725-7C>T (n.725-7C>T) c.1178-7C>T (n.1178-7C>T) c.995-7C>T (n.995-7C>T) c.968-7C>T (n.968-7C>T) | gnomAD v4 |
7 | g.70766108T>C | CA2523673086 | AUTS2 | c.1469-6T>C (n.1469-6T>C) c.-197-6T>C (n.-197-6T>C) c.95-6T>C (n.95-6T>C) c.1466-6T>C (n.1466-6T>C) c.313-6T>C c.94-6T>C n.76-6T>C c.725-6T>C (n.725-6T>C) c.1178-6T>C (n.1178-6T>C) c.995-6T>C (n.995-6T>C) c.968-6T>C (n.968-6T>C) | gnomAD v4 |
7 | g.70766109T>G | CA2683160778 | AUTS2 | c.1469-5T>G (n.1469-5T>G) c.-197-5T>G (n.-197-5T>G) c.95-5T>G (n.95-5T>G) c.1466-5T>G (n.1466-5T>G) c.313-5T>G c.94-5T>G n.76-5T>G c.725-5T>G (n.725-5T>G) c.1178-5T>G (n.1178-5T>G) c.995-5T>G (n.995-5T>G) c.968-5T>G (n.968-5T>G) | gnomAD v4 |
7 | g.70766110C= | CA1716165902 | AUTS2 | c.1469-4C= (n.1469-4C=) c.-197-4C= (n.-197-4C=) c.95-4C= (n.95-4C=) c.1466-4C= (n.1466-4C=) c.313-4C= c.94-4C= n.76-4C= c.725-4C= (n.725-4C=) c.1178-4C= (n.1178-4C=) c.995-4C= (n.995-4C=) c.968-4C= (n.968-4C=) | |
7 | g.70766110C>G | CA575547026 | AUTS2 | c.1469-4C>G (n.1469-4C>G) c.-197-4C>G (n.-197-4C>G) c.95-4C>G (n.95-4C>G) c.1466-4C>G (n.1466-4C>G) c.313-4C>G c.94-4C>G n.76-4C>G c.725-4C>G (n.725-4C>G) c.1178-4C>G (n.1178-4C>G) c.995-4C>G (n.995-4C>G) c.968-4C>G (n.968-4C>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.70766110C>T | CA2683160779 | AUTS2 | c.1469-4C>T (n.1469-4C>T) c.-197-4C>T (n.-197-4C>T) c.95-4C>T (n.95-4C>T) c.1466-4C>T (n.1466-4C>T) c.313-4C>T c.94-4C>T n.76-4C>T c.725-4C>T (n.725-4C>T) c.1178-4C>T (n.1178-4C>T) c.995-4C>T (n.995-4C>T) c.968-4C>T (n.968-4C>T) | gnomAD v4 |
7 | g.70766112A>C | CA367668632 | AUTS2 | c.1469-2A>C (n.1469-2A>C) c.-197-2A>C (n.-197-2A>C) c.95-2A>C (n.95-2A>C) c.1466-2A>C (n.1466-2A>C) c.313-2A>C c.94-2A>C n.76-2A>C c.725-2A>C (n.725-2A>C) c.1178-2A>C (n.1178-2A>C) c.995-2A>C (n.995-2A>C) c.968-2A>C (n.968-2A>C) | |
7 | g.70766112A>G | CA367668633 | AUTS2 | c.1469-2A>G (n.1469-2A>G) c.-197-2A>G (n.-197-2A>G) c.95-2A>G (n.95-2A>G) c.1466-2A>G (n.1466-2A>G) c.313-2A>G c.94-2A>G n.76-2A>G c.725-2A>G (n.725-2A>G) c.1178-2A>G (n.1178-2A>G) c.995-2A>G (n.995-2A>G) c.968-2A>G (n.968-2A>G) | |
7 | g.70766112A>T | CA367668634 | AUTS2 | c.1469-2A>T (n.1469-2A>T) c.-197-2A>T (n.-197-2A>T) c.95-2A>T (n.95-2A>T) c.1466-2A>T (n.1466-2A>T) c.313-2A>T c.94-2A>T n.76-2A>T c.725-2A>T (n.725-2A>T) c.1178-2A>T (n.1178-2A>T) c.995-2A>T (n.995-2A>T) c.968-2A>T (n.968-2A>T) | |
7 | g.70766113G>A | CA367668636 | AUTS2 | c.1469-1G>A (n.1469-1G>A) c.-197-1G>A (n.-197-1G>A) c.95-1G>A (n.95-1G>A) c.1466-1G>A (n.1466-1G>A) c.313-1G>A c.94-1G>A n.76-1G>A c.725-1G>A (n.725-1G>A) c.1178-1G>A (n.1178-1G>A) c.995-1G>A (n.995-1G>A) c.968-1G>A (n.968-1G>A) | |
7 | g.70766113G>C | CA367668637 | AUTS2 | c.1469-1G>C (n.1469-1G>C) c.-197-1G>C (n.-197-1G>C) c.95-1G>C (n.95-1G>C) c.1466-1G>C (n.1466-1G>C) c.313-1G>C c.94-1G>C n.76-1G>C c.725-1G>C (n.725-1G>C) c.1178-1G>C (n.1178-1G>C) c.995-1G>C (n.995-1G>C) c.968-1G>C (n.968-1G>C) | |
7 | g.70766113G>T | CA367668635 | AUTS2 | c.1469-1G>T (n.1469-1G>T) c.-197-1G>T (n.-197-1G>T) c.95-1G>T (n.95-1G>T) c.1466-1G>T (n.1466-1G>T) c.313-1G>T c.94-1G>T n.76-1G>T c.725-1G>T (n.725-1G>T) c.1178-1G>T (n.1178-1G>T) c.995-1G>T (n.995-1G>T) c.968-1G>T (n.968-1G>T) | |
7 | g.70766114A>C | CA367668638 | AUTS2 | c.1469A>C (p.Glu490Ala) c.-197A>C (n.-197A>C) c.95A>C (p.Glu32Ala) c.1466A>C (p.Glu489Ala) c.313A>C c.94A>C n.76A>C c.725A>C (p.Glu242Ala) c.1178A>C (p.Glu393Ala) c.995A>C (p.Glu332Ala) c.968A>C (p.Glu323Ala) | |
7 | g.70766114A>G | CA367668639 | AUTS2 | c.1469A>G (p.Glu490Gly) c.-197A>G (n.-197A>G) c.95A>G (p.Glu32Gly) c.1466A>G (p.Glu489Gly) c.313A>G c.94A>G n.76A>G c.725A>G (p.Glu242Gly) c.1178A>G (p.Glu393Gly) c.995A>G (p.Glu332Gly) c.968A>G (p.Glu323Gly) | |
7 | g.70766114A>T | CA367668640 | AUTS2 | c.1469A>T (p.Glu490Val) c.-197A>T (n.-197A>T) c.95A>T (p.Glu32Val) c.1466A>T (p.Glu489Val) c.313A>T c.94A>T n.76A>T c.725A>T (p.Glu242Val) c.1178A>T (p.Glu393Val) c.995A>T (p.Glu332Val) c.968A>T (p.Glu323Val) | |
7 | g.70766115G>A | CA455801875 | AUTS2 | c.1470G>A (p.Glu490=) c.-196G>A (n.-196G>A) c.96G>A (p.Glu32=) c.1467G>A (p.Glu489=) c.314G>A c.95G>A n.77G>A c.726G>A (p.Glu242=) c.1179G>A (p.Glu393=) c.996G>A (p.Glu332=) c.969G>A (p.Glu323=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.70766115G>C | CA367668641 | AUTS2 | c.1470G>C (p.Glu490Asp) c.-196G>C (n.-196G>C) c.96G>C (p.Glu32Asp) c.1467G>C (p.Glu489Asp) c.314G>C c.95G>C n.77G>C c.726G>C (p.Glu242Asp) c.1179G>C (p.Glu393Asp) c.996G>C (p.Glu332Asp) c.969G>C (p.Glu323Asp) | |
7 | g.70766115G= | CA1716165904 | AUTS2 | c.1470G= (p.Glu490=) c.-196G= (n.-196G=) c.96G= (p.Glu32=) c.1467G= (p.Glu489=) c.314G= c.95G= n.77G= c.726G= (p.Glu242=) c.1179G= (p.Glu393=) c.996G= (p.Glu332=) c.969G= (p.Glu323=) | |
7 | g.70766115G>T | CA367668642 | AUTS2 | c.1470G>T (p.Glu490Asp) c.-196G>T (n.-196G>T) c.96G>T (p.Glu32Asp) c.1467G>T (p.Glu489Asp) c.314G>T c.95G>T n.77G>T c.726G>T (p.Glu242Asp) c.1179G>T (p.Glu393Asp) c.996G>T (p.Glu332Asp) c.969G>T (p.Glu323Asp) | gnomAD v4 |
7 | g.70766116C>A | CA367668645 | AUTS2 | c.1471C>A (p.Gln491Lys) c.-195C>A (n.-195C>A) c.97C>A (p.Gln33Lys) c.1468C>A (p.Gln490Lys) c.315C>A c.96C>A n.78C>A c.727C>A (p.Gln243Lys) c.1180C>A (p.Gln394Lys) c.997C>A (p.Gln333Lys) c.970C>A (p.Gln324Lys) | |
7 | g.70766116C>G | CA367668644 | AUTS2 | c.1471C>G (p.Gln491Glu) c.-195C>G (n.-195C>G) c.97C>G (p.Gln33Glu) c.1468C>G (p.Gln490Glu) c.315C>G c.96C>G n.78C>G c.727C>G (p.Gln243Glu) c.1180C>G (p.Gln394Glu) c.997C>G (p.Gln333Glu) c.970C>G (p.Gln324Glu) | |
7 | g.70766116C>T | CA367668643 | AUTS2 | c.1471C>T (p.Gln491Ter) c.-195C>T (n.-195C>T) c.97C>T (p.Gln33Ter) c.1468C>T (p.Gln490Ter) c.315C>T c.96C>T n.78C>T c.727C>T (p.Gln243Ter) c.1180C>T (p.Gln394Ter) c.997C>T (p.Gln333Ter) c.970C>T (p.Gln324Ter) | |
7 | g.70766117A>C | CA367668646 | AUTS2 | c.1472A>C (p.Gln491Pro) c.-194A>C (n.-194A>C) c.98A>C (p.Gln33Pro) c.1469A>C (p.Gln490Pro) c.316A>C c.97A>C n.79A>C c.728A>C (p.Gln243Pro) c.1181A>C (p.Gln394Pro) c.998A>C (p.Gln333Pro) c.971A>C (p.Gln324Pro) | |
7 | g.70766117A>G | CA367668647 | AUTS2 | c.1472A>G (p.Gln491Arg) c.-194A>G (n.-194A>G) c.98A>G (p.Gln33Arg) c.1469A>G (p.Gln490Arg) c.316A>G c.97A>G n.79A>G c.728A>G (p.Gln243Arg) c.1181A>G (p.Gln394Arg) c.998A>G (p.Gln333Arg) c.971A>G (p.Gln324Arg) | gnomAD v4 |
7 | g.70766117A>T | CA367668648 | AUTS2 | c.1472A>T (p.Gln491Leu) c.-194A>T (n.-194A>T) c.98A>T (p.Gln33Leu) c.1469A>T (p.Gln490Leu) c.316A>T c.97A>T n.79A>T c.728A>T (p.Gln243Leu) c.1181A>T (p.Gln394Leu) c.998A>T (p.Gln333Leu) c.971A>T (p.Gln324Leu) | |
7 | g.70766118A= | CA1716165908 | AUTS2 | c.1473A= (p.Gln491=) c.-193A= (n.-193A=) c.99A= (p.Gln33=) c.1470A= (p.Gln490=) c.317A= c.98A= n.80A= c.729A= (p.Gln243=) c.1182A= (p.Gln394=) c.999A= (p.Gln333=) c.972A= (p.Gln324=) | |
7 | g.70766118A>C | CA367668649 | AUTS2 | c.1473A>C (p.Gln491His) c.-193A>C (n.-193A>C) c.99A>C (p.Gln33His) c.1470A>C (p.Gln490His) c.317A>C c.98A>C n.80A>C c.729A>C (p.Gln243His) c.1182A>C (p.Gln394His) c.999A>C (p.Gln333His) c.972A>C (p.Gln324His) | |
7 | g.70766118A>G | CA4280686 | AUTS2 | c.1473A>G (p.Gln491=) c.-193A>G (n.-193A>G) c.99A>G (p.Gln33=) c.1470A>G (p.Gln490=) c.317A>G c.98A>G n.80A>G c.729A>G (p.Gln243=) c.1182A>G (p.Gln394=) c.999A>G (p.Gln333=) c.972A>G (p.Gln324=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70766118A>T | CA367668650 | AUTS2 | c.1473A>T (p.Gln491His) c.-193A>T (n.-193A>T) c.99A>T (p.Gln33His) c.1470A>T (p.Gln490His) c.317A>T c.98A>T n.80A>T c.729A>T (p.Gln243His) c.1182A>T (p.Gln394His) c.999A>T (p.Gln333His) c.972A>T (p.Gln324His) | |
7 | g.70766119G>A | CA367668651 | AUTS2 | c.1474G>A (p.Asp492Asn) c.-192G>A (n.-192G>A) c.100G>A (p.Asp34Asn) c.1471G>A (p.Asp491Asn) c.318G>A c.99G>A n.81G>A c.730G>A (p.Asp244Asn) c.1183G>A (p.Asp395Asn) c.1000G>A (p.Asp334Asn) c.973G>A (p.Asp325Asn) | |
7 | g.70766119G>C | CA367668653 | AUTS2 | c.1474G>C (p.Asp492His) c.-192G>C (n.-192G>C) c.100G>C (p.Asp34His) c.1471G>C (p.Asp491His) c.318G>C c.99G>C n.81G>C c.730G>C (p.Asp244His) c.1183G>C (p.Asp395His) c.1000G>C (p.Asp334His) c.973G>C (p.Asp325His) | |
7 | g.70766119G>T | CA367668652 | AUTS2 | c.1474G>T (p.Asp492Tyr) c.-192G>T (n.-192G>T) c.100G>T (p.Asp34Tyr) c.1471G>T (p.Asp491Tyr) c.318G>T c.99G>T n.81G>T c.730G>T (p.Asp244Tyr) c.1183G>T (p.Asp395Tyr) c.1000G>T (p.Asp334Tyr) c.973G>T (p.Asp325Tyr) | |
7 | g.70766120A>C | CA367668654 | AUTS2 | c.1475A>C (p.Asp492Ala) c.-191A>C (n.-191A>C) c.101A>C (p.Asp34Ala) c.1472A>C (p.Asp491Ala) c.319A>C c.100A>C n.82A>C c.731A>C (p.Asp244Ala) c.1184A>C (p.Asp395Ala) c.1001A>C (p.Asp334Ala) c.974A>C (p.Asp325Ala) | |
7 | g.70766120A>G | CA367668655 | AUTS2 | c.1475A>G (p.Asp492Gly) c.-191A>G (n.-191A>G) c.101A>G (p.Asp34Gly) c.1472A>G (p.Asp491Gly) c.319A>G c.100A>G n.82A>G c.731A>G (p.Asp244Gly) c.1184A>G (p.Asp395Gly) c.1001A>G (p.Asp334Gly) c.974A>G (p.Asp325Gly) | |
7 | g.70766120A>T | CA367668656 | AUTS2 | c.1475A>T (p.Asp492Val) c.-191A>T (n.-191A>T) c.101A>T (p.Asp34Val) c.1472A>T (p.Asp491Val) c.319A>T c.100A>T n.82A>T c.731A>T (p.Asp244Val) c.1184A>T (p.Asp395Val) c.1001A>T (p.Asp334Val) c.974A>T (p.Asp325Val) | |
7 | g.70766121C>A | CA367668657 | AUTS2 | c.1476C>A (p.Asp492Glu) c.-190C>A (n.-190C>A) c.102C>A (p.Asp34Glu) c.1473C>A (p.Asp491Glu) c.320C>A c.101C>A n.83C>A c.732C>A (p.Asp244Glu) c.1185C>A (p.Asp395Glu) c.1002C>A (p.Asp334Glu) c.975C>A (p.Asp325Glu) | |
7 | g.70766121C>G | CA367668658 | AUTS2 | c.1476C>G (p.Asp492Glu) c.-190C>G (n.-190C>G) c.102C>G (p.Asp34Glu) c.1473C>G (p.Asp491Glu) c.320C>G c.101C>G n.83C>G c.732C>G (p.Asp244Glu) c.1185C>G (p.Asp395Glu) c.1002C>G (p.Asp334Glu) c.975C>G (p.Asp325Glu) | COSMIC |
7 | g.70766121C>T | CA455801898 | AUTS2 | c.1476C>T (p.Asp492=) c.-190C>T (n.-190C>T) c.102C>T (p.Asp34=) c.1473C>T (p.Asp491=) c.320C>T c.101C>T n.83C>T c.732C>T (p.Asp244=) c.1185C>T (p.Asp395=) c.1002C>T (p.Asp334=) c.975C>T (p.Asp325=) | gnomAD v4 |
7 | g.70766122A>C | CA367668659 | AUTS2 | c.1477A>C (p.Ile493Leu) c.-189A>C (n.-189A>C) c.103A>C (p.Ile35Leu) c.1474A>C (p.Ile492Leu) c.321A>C c.102A>C n.84A>C c.733A>C (p.Ile245Leu) c.1186A>C (p.Ile396Leu) c.1003A>C (p.Ile335Leu) c.976A>C (p.Ile326Leu) | |
7 | g.70766122A>G | CA367668660 | AUTS2 | c.1477A>G (p.Ile493Val) c.-189A>G (n.-189A>G) c.103A>G (p.Ile35Val) c.1474A>G (p.Ile492Val) c.321A>G c.102A>G n.84A>G c.733A>G (p.Ile245Val) c.1186A>G (p.Ile396Val) c.1003A>G (p.Ile335Val) c.976A>G (p.Ile326Val) | |
7 | g.70766122A>T | CA367668661 | AUTS2 | c.1477A>T (p.Ile493Phe) c.-189A>T (n.-189A>T) c.103A>T (p.Ile35Phe) c.1474A>T (p.Ile492Phe) c.321A>T c.102A>T n.84A>T c.733A>T (p.Ile245Phe) c.1186A>T (p.Ile396Phe) c.1003A>T (p.Ile335Phe) c.976A>T (p.Ile326Phe) | |
7 | g.70766123T>A | CA367668662 | AUTS2 | c.1478T>A (p.Ile493Asn) c.-188T>A (n.-188T>A) c.104T>A (p.Ile35Asn) c.1475T>A (p.Ile492Asn) c.322T>A c.103T>A n.85T>A c.734T>A (p.Ile245Asn) c.1187T>A (p.Ile396Asn) c.1004T>A (p.Ile335Asn) c.977T>A (p.Ile326Asn) | |
7 | g.70766123T>C | CA367668663 | AUTS2 | c.1478T>C (p.Ile493Thr) c.-188T>C (n.-188T>C) c.104T>C (p.Ile35Thr) c.1475T>C (p.Ile492Thr) c.322T>C c.103T>C n.85T>C c.734T>C (p.Ile245Thr) c.1187T>C (p.Ile396Thr) c.1004T>C (p.Ile335Thr) c.977T>C (p.Ile326Thr) | |
7 | g.70766123T>G | CA367668664 | AUTS2 | c.1478T>G (p.Ile493Ser) c.-188T>G (n.-188T>G) c.104T>G (p.Ile35Ser) c.1475T>G (p.Ile492Ser) c.322T>G c.103T>G n.85T>G c.734T>G (p.Ile245Ser) c.1187T>G (p.Ile396Ser) c.1004T>G (p.Ile335Ser) c.977T>G (p.Ile326Ser) | |
7 | g.70766124C>A | CA455801905 | AUTS2 | c.1479C>A (p.Ile493=) c.-187C>A (n.-187C>A) c.105C>A (p.Ile35=) c.1476C>A (p.Ile492=) c.323C>A c.104C>A n.86C>A c.735C>A (p.Ile245=) c.1188C>A (p.Ile396=) c.1005C>A (p.Ile335=) c.978C>A (p.Ile326=) | |
7 | g.70766124C>G | CA367668665 | AUTS2 | c.1479C>G (p.Ile493Met) c.-187C>G (n.-187C>G) c.105C>G (p.Ile35Met) c.1476C>G (p.Ile492Met) c.323C>G c.104C>G n.86C>G c.735C>G (p.Ile245Met) c.1188C>G (p.Ile396Met) c.1005C>G (p.Ile335Met) c.978C>G (p.Ile326Met) | |
7 | g.70766124C>T | CA455801908 | AUTS2 | c.1479C>T (p.Ile493=) c.-187C>T (n.-187C>T) c.105C>T (p.Ile35=) c.1476C>T (p.Ile492=) c.323C>T c.104C>T n.86C>T c.735C>T (p.Ile245=) c.1188C>T (p.Ile396=) c.1005C>T (p.Ile335=) c.978C>T (p.Ile326=) | COSMIC |
7 | g.70766125T>A | CA367668667 | AUTS2 | c.1480T>A (p.Leu494Met) c.-186T>A (n.-186T>A) c.106T>A (p.Leu36Met) c.1477T>A (p.Leu493Met) c.324T>A c.105T>A n.87T>A c.736T>A (p.Leu246Met) c.1189T>A (p.Leu397Met) c.1006T>A (p.Leu336Met) c.979T>A (p.Leu327Met) | |
7 | g.70766125T>C | CA4280687 | AUTS2 | c.1480T>C (p.Leu494=) c.-186T>C (n.-186T>C) c.106T>C (p.Leu36=) c.1477T>C (p.Leu493=) c.324T>C c.105T>C n.87T>C c.736T>C (p.Leu246=) c.1189T>C (p.Leu397=) c.1006T>C (p.Leu336=) c.979T>C (p.Leu327=) | dbSNP ExAC gnomAD v4 |
7 | g.70766125T>G | CA367668666 | AUTS2 | c.1480T>G (p.Leu494Val) c.-186T>G (n.-186T>G) c.106T>G (p.Leu36Val) c.1477T>G (p.Leu493Val) c.324T>G c.105T>G n.87T>G c.736T>G (p.Leu246Val) c.1189T>G (p.Leu397Val) c.1006T>G (p.Leu336Val) c.979T>G (p.Leu327Val) | |
7 | g.70766125T= | CA1716165913 | AUTS2 | c.1480T= (p.Leu494=) c.-186T= (n.-186T=) c.106T= (p.Leu36=) c.1477T= (p.Leu493=) c.324T= c.105T= n.87T= c.736T= (p.Leu246=) c.1189T= (p.Leu397=) c.1006T= (p.Leu336=) c.979T= (p.Leu327=) | |
7 | g.70766126T>A | CA367668668 | AUTS2 | c.1481T>A (p.Leu494Ter) c.-185T>A (n.-185T>A) c.107T>A (p.Leu36Ter) c.1478T>A (p.Leu493Ter) c.325T>A c.106T>A n.88T>A c.737T>A (p.Leu246Ter) c.1190T>A (p.Leu397Ter) c.1007T>A (p.Leu336Ter) c.980T>A (p.Leu327Ter) | |
7 | g.70766126T>C | CA16605388 | AUTS2 | c.1481T>C (p.Leu494Ser) c.-185T>C (n.-185T>C) c.107T>C (p.Leu36Ser) c.1478T>C (p.Leu493Ser) c.325T>C c.106T>C n.88T>C c.737T>C (p.Leu246Ser) c.1190T>C (p.Leu397Ser) c.1007T>C (p.Leu336Ser) c.980T>C (p.Leu327Ser) | ClinVar dbSNP |
7 | g.70766126T>G | CA367668669 | AUTS2 | c.1481T>G (p.Leu494Trp) c.-185T>G (n.-185T>G) c.107T>G (p.Leu36Trp) c.1478T>G (p.Leu493Trp) c.325T>G c.106T>G n.88T>G c.737T>G (p.Leu246Trp) c.1190T>G (p.Leu397Trp) c.1007T>G (p.Leu336Trp) c.980T>G (p.Leu327Trp) | |
7 | g.70766126T= | CA1716165924 | AUTS2 | c.1481T= (p.Leu494=) c.-185T= (n.-185T=) c.107T= (p.Leu36=) c.1478T= (p.Leu493=) c.325T= c.106T= n.88T= c.737T= (p.Leu246=) c.1190T= (p.Leu397=) c.1007T= (p.Leu336=) c.980T= (p.Leu327=) | |
7 | g.70766127G>A | CA455801917 | AUTS2 | c.1482G>A (p.Leu494=) c.-184G>A (n.-184G>A) c.108G>A (p.Leu36=) c.1479G>A (p.Leu493=) c.326G>A c.107G>A n.89G>A c.738G>A (p.Leu246=) c.1191G>A (p.Leu397=) c.1008G>A (p.Leu336=) c.981G>A (p.Leu327=) | |
7 | g.70766127G>C | CA367668670 | AUTS2 | c.1482G>C (p.Leu494Phe) c.-184G>C (n.-184G>C) c.108G>C (p.Leu36Phe) c.1479G>C (p.Leu493Phe) c.326G>C c.107G>C n.89G>C c.738G>C (p.Leu246Phe) c.1191G>C (p.Leu397Phe) c.1008G>C (p.Leu336Phe) c.981G>C (p.Leu327Phe) | |
7 | g.70766127G>T | CA367668671 | AUTS2 | c.1482G>T (p.Leu494Phe) c.-184G>T (n.-184G>T) c.108G>T (p.Leu36Phe) c.1479G>T (p.Leu493Phe) c.326G>T c.107G>T n.89G>T c.738G>T (p.Leu246Phe) c.1191G>T (p.Leu397Phe) c.1008G>T (p.Leu336Phe) c.981G>T (p.Leu327Phe) | |
7 | g.70766127dup | CA1139660095 | AUTS2 | c.1482dup (p.Arg495AlafsTer15) c.-184dup (n.-184dup) c.108dup (p.Arg37AlafsTer15) c.1479dup (p.Arg494AlafsTer15) c.326dup c.107dup n.89dup c.738dup (p.Arg247AlafsTer15) c.1191dup (p.Arg398AlafsTer15) c.1008dup (p.Arg337AlafsTer15) c.981dup (p.Arg328AlafsTer15) | ClinVar dbSNP |
7 | g.70766128C>A | CA455801922 | AUTS2 | c.1483C>A (p.Arg495=) c.-183C>A (n.-183C>A) c.109C>A (p.Arg37=) c.1480C>A (p.Arg494=) c.327C>A c.108C>A n.90C>A c.739C>A (p.Arg247=) c.1192C>A (p.Arg398=) c.1009C>A (p.Arg337=) c.982C>A (p.Arg328=) | COSMIC |
7 | g.70766128C= | CA1716165932 | AUTS2 | c.1483C= (p.Arg495=) c.-183C= (n.-183C=) c.109C= (p.Arg37=) c.1480C= (p.Arg494=) c.327C= c.108C= n.90C= c.739C= (p.Arg247=) c.1192C= (p.Arg398=) c.1009C= (p.Arg337=) c.982C= (p.Arg328=) | |
7 | g.70766128C>G | CA367668672 | AUTS2 | c.1483C>G (p.Arg495Gly) c.-183C>G (n.-183C>G) c.109C>G (p.Arg37Gly) c.1480C>G (p.Arg494Gly) c.327C>G c.108C>G n.90C>G c.739C>G (p.Arg247Gly) c.1192C>G (p.Arg398Gly) c.1009C>G (p.Arg337Gly) c.982C>G (p.Arg328Gly) | |
7 | g.70766128C>T | CA16042597 | AUTS2 | c.1483C>T (p.Arg495Ter) c.-183C>T (n.-183C>T) c.109C>T (p.Arg37Ter) c.1480C>T (p.Arg494Ter) c.327C>T c.108C>T n.90C>T c.739C>T (p.Arg247Ter) c.1192C>T (p.Arg398Ter) c.1009C>T (p.Arg337Ter) c.982C>T (p.Arg328Ter) | ClinVar dbSNP |
7 | g.70766128dup | CA2840388934 | AUTS2 | c.1483dup (p.Arg495ProfsTer15) c.-183dup (n.-183dup) c.109dup (p.Arg37ProfsTer15) c.1480dup (p.Arg494ProfsTer15) c.327dup c.108dup n.90dup c.739dup (p.Arg247ProfsTer15) c.1192dup (p.Arg398ProfsTer15) c.1009dup (p.Arg337ProfsTer15) c.982dup (p.Arg328ProfsTer15) | |
7 | g.70766129G>A | CA367668673 | AUTS2 | c.1484G>A (p.Arg495Gln) c.-182G>A (n.-182G>A) c.110G>A (p.Arg37Gln) c.1481G>A (p.Arg494Gln) c.328G>A c.109G>A n.91G>A c.740G>A (p.Arg247Gln) c.1193G>A (p.Arg398Gln) c.1010G>A (p.Arg337Gln) c.983G>A (p.Arg328Gln) | COSMIC |
7 | g.70766129G>C | CA367668674 | AUTS2 | c.1484G>C (p.Arg495Pro) c.-182G>C (n.-182G>C) c.110G>C (p.Arg37Pro) c.1481G>C (p.Arg494Pro) c.328G>C c.109G>C n.91G>C c.740G>C (p.Arg247Pro) c.1193G>C (p.Arg398Pro) c.1010G>C (p.Arg337Pro) c.983G>C (p.Arg328Pro) | |
7 | g.70766129G>T | CA367668675 | AUTS2 | c.1484G>T (p.Arg495Leu) c.-182G>T (n.-182G>T) c.110G>T (p.Arg37Leu) c.1481G>T (p.Arg494Leu) c.328G>T c.109G>T n.91G>T c.740G>T (p.Arg247Leu) c.1193G>T (p.Arg398Leu) c.1010G>T (p.Arg337Leu) c.983G>T (p.Arg328Leu) | |
7 | g.70766130A= | CA1716165937 | AUTS2 | c.1485A= (p.Arg495=) c.-181A= (n.-181A=) c.111A= (p.Arg37=) c.1482A= (p.Arg494=) c.329A= c.110A= n.92A= c.741A= (p.Arg247=) c.1194A= (p.Arg398=) c.1011A= (p.Arg337=) c.984A= (p.Arg328=) | |
7 | g.70766130A>C | CA455801928 | AUTS2 | c.1485A>C (p.Arg495=) c.-181A>C (n.-181A>C) c.111A>C (p.Arg37=) c.1482A>C (p.Arg494=) c.329A>C c.110A>C n.92A>C c.741A>C (p.Arg247=) c.1194A>C (p.Arg398=) c.1011A>C (p.Arg337=) c.984A>C (p.Arg328=) | |
7 | g.70766130A>G | CA455801930 | AUTS2 | c.1485A>G (p.Arg495=) c.-181A>G (n.-181A>G) c.111A>G (p.Arg37=) c.1482A>G (p.Arg494=) c.329A>G c.110A>G n.92A>G c.741A>G (p.Arg247=) c.1194A>G (p.Arg398=) c.1011A>G (p.Arg337=) c.984A>G (p.Arg328=) | |
7 | g.70766130A>T | CA455801931 | AUTS2 | c.1485A>T (p.Arg495=) c.-181A>T (n.-181A>T) c.111A>T (p.Arg37=) c.1482A>T (p.Arg494=) c.329A>T c.110A>T n.92A>T c.741A>T (p.Arg247=) c.1194A>T (p.Arg398=) c.1011A>T (p.Arg337=) c.984A>T (p.Arg328=) | |
7 | g.70766131C>A | CA367668676 | AUTS2 | c.1486C>A (p.Gln496Lys) c.-180C>A (n.-180C>A) c.112C>A (p.Gln38Lys) c.1483C>A (p.Gln495Lys) c.330C>A c.111C>A n.93C>A c.742C>A (p.Gln248Lys) c.1195C>A (p.Gln399Lys) c.1012C>A (p.Gln338Lys) c.985C>A (p.Gln329Lys) | |
7 | g.70766131C>G | CA367668677 | AUTS2 | c.1486C>G (p.Gln496Glu) c.-180C>G (n.-180C>G) c.112C>G (p.Gln38Glu) c.1483C>G (p.Gln495Glu) c.330C>G c.111C>G n.93C>G c.742C>G (p.Gln248Glu) c.1195C>G (p.Gln399Glu) c.1012C>G (p.Gln338Glu) c.985C>G (p.Gln329Glu) | |
7 | g.70766131C>T | CA367668678 | AUTS2 | c.1486C>T (p.Gln496Ter) c.-180C>T (n.-180C>T) c.112C>T (p.Gln38Ter) c.1483C>T (p.Gln495Ter) c.330C>T c.111C>T n.93C>T c.742C>T (p.Gln248Ter) c.1195C>T (p.Gln399Ter) c.1012C>T (p.Gln338Ter) c.985C>T (p.Gln329Ter) | |
7 | g.70766131dup | CA354074 | AUTS2 | c.1486dup (p.Gln496ProfsTer14) c.-180dup (n.-180dup) c.112dup (p.Gln38ProfsTer14) c.1483dup (p.Gln495ProfsTer14) c.330dup c.111dup n.93dup c.742dup (p.Gln248ProfsTer14) c.1195dup (p.Gln399ProfsTer14) c.1012dup (p.Gln338ProfsTer14) c.985dup (p.Gln329ProfsTer14) | ClinVar dbSNP |
7 | g.70766131_70766132delinsCA | CA1716165941 | AUTS2 | c.1486_1487delinsCA (p.Gln496=) c.-180_-179delinsCA (n.-180_-179delinsCA) c.112_113delinsCA (p.Gln38=) c.1483_1484delinsCA (p.Gln495=) c.330_331delinsCA c.111_112delinsCA n.93_94delinsCA c.742_743delinsCA (p.Gln248=) c.1195_1196delinsCA (p.Gln399=) c.1012_1013delinsCA (p.Gln338=) c.985_986delinsCA (p.Gln329=) | |
7 | g.70766132del | CA658657674 | AUTS2 | c.1487del (p.Gln496ArgfsTer3) c.-179del (n.-179del) c.113del (p.Gln38ArgfsTer3) c.1484del (p.Gln495ArgfsTer3) c.331del c.112del n.94del c.743del (p.Gln248ArgfsTer3) c.1196del (p.Gln399ArgfsTer3) c.1013del (p.Gln338ArgfsTer3) c.986del (p.Gln329ArgfsTer3) | ClinVar dbSNP |
7 | g.70766132A>C | CA367668679 | AUTS2 | c.1487A>C (p.Gln496Pro) c.-179A>C (n.-179A>C) c.113A>C (p.Gln38Pro) c.1484A>C (p.Gln495Pro) c.331A>C c.112A>C n.94A>C c.743A>C (p.Gln248Pro) c.1196A>C (p.Gln399Pro) c.1013A>C (p.Gln338Pro) c.986A>C (p.Gln329Pro) | |
7 | g.70766132A>G | CA367668680 | AUTS2 | c.1487A>G (p.Gln496Arg) c.-179A>G (n.-179A>G) c.113A>G (p.Gln38Arg) c.1484A>G (p.Gln495Arg) c.331A>G c.112A>G n.94A>G c.743A>G (p.Gln248Arg) c.1196A>G (p.Gln399Arg) c.1013A>G (p.Gln338Arg) c.986A>G (p.Gln329Arg) | |
7 | g.70766132A>T | CA367668681 | AUTS2 | c.1487A>T (p.Gln496Leu) c.-179A>T (n.-179A>T) c.113A>T (p.Gln38Leu) c.1484A>T (p.Gln495Leu) c.331A>T c.112A>T n.94A>T c.743A>T (p.Gln248Leu) c.1196A>T (p.Gln399Leu) c.1013A>T (p.Gln338Leu) c.986A>T (p.Gln329Leu) | |
7 | g.70766133G>A | CA160025910 | AUTS2 | c.1488G>A (p.Gln496=) c.-178G>A (n.-178G>A) c.114G>A (p.Gln38=) c.1485G>A (p.Gln495=) c.332G>A c.113G>A n.95G>A c.744G>A (p.Gln248=) c.1197G>A (p.Gln399=) c.1014G>A (p.Gln338=) c.987G>A (p.Gln329=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.70766133G>C | CA367668682 | AUTS2 | c.1488G>C (p.Gln496His) c.-178G>C (n.-178G>C) c.114G>C (p.Gln38His) c.1485G>C (p.Gln495His) c.332G>C c.113G>C n.95G>C c.744G>C (p.Gln248His) c.1197G>C (p.Gln399His) c.1014G>C (p.Gln338His) c.987G>C (p.Gln329His) | |
7 | g.70766133G= | CA1716165945 | AUTS2 | c.1488G= (p.Gln496=) c.-178G= (n.-178G=) c.114G= (p.Gln38=) c.1485G= (p.Gln495=) c.332G= c.113G= n.95G= c.744G= (p.Gln248=) c.1197G= (p.Gln399=) c.1014G= (p.Gln338=) c.987G= (p.Gln329=) | |
7 | g.70766133G>T | CA367668683 | AUTS2 | c.1488G>T (p.Gln496His) c.-178G>T (n.-178G>T) c.114G>T (p.Gln38His) c.1485G>T (p.Gln495His) c.332G>T c.113G>T n.95G>T c.744G>T (p.Gln248His) c.1197G>T (p.Gln399His) c.1014G>T (p.Gln338His) c.987G>T (p.Gln329His) | |
7 | g.70766134G>A | CA367668684 | AUTS2 | c.1489G>A (p.Glu497Lys) c.-177G>A (n.-177G>A) c.115G>A (p.Glu39Lys) c.1486G>A (p.Glu496Lys) c.333G>A c.114G>A n.96G>A c.745G>A (p.Glu249Lys) c.1198G>A (p.Glu400Lys) c.1015G>A (p.Glu339Lys) c.988G>A (p.Glu330Lys) | COSMIC |
7 | g.70766134G>C | CA367668685 | AUTS2 | c.1489G>C (p.Glu497Gln) c.-177G>C (n.-177G>C) c.115G>C (p.Glu39Gln) c.1486G>C (p.Glu496Gln) c.333G>C c.114G>C n.96G>C c.745G>C (p.Glu249Gln) c.1198G>C (p.Glu400Gln) c.1015G>C (p.Glu339Gln) c.988G>C (p.Glu330Gln) | |
7 | g.70766134G>T | CA367668686 | AUTS2 | c.1489G>T (p.Glu497Ter) c.-177G>T (n.-177G>T) c.115G>T (p.Glu39Ter) c.1486G>T (p.Glu496Ter) c.333G>T c.114G>T n.96G>T c.745G>T (p.Glu249Ter) c.1198G>T (p.Glu400Ter) c.1015G>T (p.Glu339Ter) c.988G>T (p.Glu330Ter) | |
7 | g.70766135A>C | CA367668687 | AUTS2 | c.1490A>C (p.Glu497Ala) c.-176A>C (n.-176A>C) c.116A>C (p.Glu39Ala) c.1487A>C (p.Glu496Ala) c.334A>C c.115A>C n.97A>C c.746A>C (p.Glu249Ala) c.1199A>C (p.Glu400Ala) c.1016A>C (p.Glu339Ala) c.989A>C (p.Glu330Ala) | |
7 | g.70766135A>G | CA367668688 | AUTS2 | c.1490A>G (p.Glu497Gly) c.-176A>G (n.-176A>G) c.116A>G (p.Glu39Gly) c.1487A>G (p.Glu496Gly) c.334A>G c.115A>G n.97A>G c.746A>G (p.Glu249Gly) c.1199A>G (p.Glu400Gly) c.1016A>G (p.Glu339Gly) c.989A>G (p.Glu330Gly) | |
7 | g.70766135A>T | CA367668689 | AUTS2 | c.1490A>T (p.Glu497Val) c.-176A>T (n.-176A>T) c.116A>T (p.Glu39Val) c.1487A>T (p.Glu496Val) c.334A>T c.115A>T n.97A>T c.746A>T (p.Glu249Val) c.1199A>T (p.Glu400Val) c.1016A>T (p.Glu339Val) c.989A>T (p.Glu330Val) | |
7 | g.70766136A>C | CA367668690 | AUTS2 | c.1491A>C (p.Glu497Asp) c.-175A>C (n.-175A>C) c.117A>C (p.Glu39Asp) c.1488A>C (p.Glu496Asp) c.335A>C c.116A>C n.98A>C c.747A>C (p.Glu249Asp) c.1200A>C (p.Glu400Asp) c.1017A>C (p.Glu339Asp) c.990A>C (p.Glu330Asp) | |
7 | g.70766136A>G | CA455801947 | AUTS2 | c.1491A>G (p.Glu497=) c.-175A>G (n.-175A>G) c.117A>G (p.Glu39=) c.1488A>G (p.Glu496=) c.335A>G c.116A>G n.98A>G c.747A>G (p.Glu249=) c.1200A>G (p.Glu400=) c.1017A>G (p.Glu339=) c.990A>G (p.Glu330=) | |
7 | g.70766136A>T | CA367668691 | AUTS2 | c.1491A>T (p.Glu497Asp) c.-175A>T (n.-175A>T) c.117A>T (p.Glu39Asp) c.1488A>T (p.Glu496Asp) c.335A>T c.116A>T n.98A>T c.747A>T (p.Glu249Asp) c.1200A>T (p.Glu400Asp) c.1017A>T (p.Glu339Asp) c.990A>T (p.Glu330Asp) | |
7 | g.70766137C>A | CA367668692 | AUTS2 | c.1492C>A (p.Leu498Met) c.-174C>A (n.-174C>A) c.118C>A (p.Leu40Met) c.1489C>A (p.Leu497Met) c.336C>A c.117C>A n.99C>A c.748C>A (p.Leu250Met) c.1201C>A (p.Leu401Met) c.1018C>A (p.Leu340Met) c.991C>A (p.Leu331Met) | |
7 | g.70766137C>G | CA367668693 | AUTS2 | c.1492C>G (p.Leu498Val) c.-174C>G (n.-174C>G) c.118C>G (p.Leu40Val) c.1489C>G (p.Leu497Val) c.336C>G c.117C>G n.99C>G c.748C>G (p.Leu250Val) c.1201C>G (p.Leu401Val) c.1018C>G (p.Leu340Val) c.991C>G (p.Leu331Val) | |
7 | g.70766137C>T | CA455801950 | AUTS2 | c.1492C>T (p.Leu498=) c.-174C>T (n.-174C>T) c.118C>T (p.Leu40=) c.1489C>T (p.Leu497=) c.336C>T c.117C>T n.99C>T c.748C>T (p.Leu250=) c.1201C>T (p.Leu401=) c.1018C>T (p.Leu340=) c.991C>T (p.Leu331=) | |
7 | g.70766138T>A | CA367668694 | AUTS2 | c.1493T>A (p.Leu498Gln) c.-173T>A (n.-173T>A) c.119T>A (p.Leu40Gln) c.1490T>A (p.Leu497Gln) c.337T>A c.118T>A n.100T>A c.749T>A (p.Leu250Gln) c.1202T>A (p.Leu401Gln) c.1019T>A (p.Leu340Gln) c.992T>A (p.Leu331Gln) | |
7 | g.70766138T>C | CA367668695 | AUTS2 | c.1493T>C (p.Leu498Pro) c.-173T>C (n.-173T>C) c.119T>C (p.Leu40Pro) c.1490T>C (p.Leu497Pro) c.337T>C c.118T>C n.100T>C c.749T>C (p.Leu250Pro) c.1202T>C (p.Leu401Pro) c.1019T>C (p.Leu340Pro) c.992T>C (p.Leu331Pro) | |
7 | g.70766138T>G | CA367668696 | AUTS2 | c.1493T>G (p.Leu498Arg) c.-173T>G (n.-173T>G) c.119T>G (p.Leu40Arg) c.1490T>G (p.Leu497Arg) c.337T>G c.118T>G n.100T>G c.749T>G (p.Leu250Arg) c.1202T>G (p.Leu401Arg) c.1019T>G (p.Leu340Arg) c.992T>G (p.Leu331Arg) | |
7 | g.70766139G>A | CA455801961 | AUTS2 | c.1494G>A (p.Leu498=) c.-172G>A (n.-172G>A) c.120G>A (p.Leu40=) c.1491G>A (p.Leu497=) c.338G>A c.119G>A n.101G>A c.750G>A (p.Leu250=) c.1203G>A (p.Leu401=) c.1020G>A (p.Leu340=) c.993G>A (p.Leu331=) | |
7 | g.70766139G>C | CA455801959 | AUTS2 | c.1494G>C (p.Leu498=) c.-172G>C (n.-172G>C) c.120G>C (p.Leu40=) c.1491G>C (p.Leu497=) c.338G>C c.119G>C n.101G>C c.750G>C (p.Leu250=) c.1203G>C (p.Leu401=) c.1020G>C (p.Leu340=) c.993G>C (p.Leu331=) | |
7 | g.70766139G>T | CA455801957 | AUTS2 | c.1494G>T (p.Leu498=) c.-172G>T (n.-172G>T) c.120G>T (p.Leu40=) c.1491G>T (p.Leu497=) c.338G>T c.119G>T n.101G>T c.750G>T (p.Leu250=) c.1203G>T (p.Leu401=) c.1020G>T (p.Leu340=) c.993G>T (p.Leu331=) | |
7 | g.70766140A>C | CA367668697 | AUTS2 | c.1495A>C (p.Asn499His) c.-171A>C (n.-171A>C) c.121A>C (p.Asn41His) c.1492A>C (p.Asn498His) c.339A>C c.120A>C n.102A>C c.751A>C (p.Asn251His) c.1204A>C (p.Asn402His) c.1021A>C (p.Asn341His) c.994A>C (p.Asn332His) | |
7 | g.70766140A>G | CA367668699 | AUTS2 | c.1495A>G (p.Asn499Asp) c.-171A>G (n.-171A>G) c.121A>G (p.Asn41Asp) c.1492A>G (p.Asn498Asp) c.339A>G c.120A>G n.102A>G c.751A>G (p.Asn251Asp) c.1204A>G (p.Asn402Asp) c.1021A>G (p.Asn341Asp) c.994A>G (p.Asn332Asp) | |
7 | g.70766140A>T | CA367668698 | AUTS2 | c.1495A>T (p.Asn499Tyr) c.-171A>T (n.-171A>T) c.121A>T (p.Asn41Tyr) c.1492A>T (p.Asn498Tyr) c.339A>T c.120A>T n.102A>T c.751A>T (p.Asn251Tyr) c.1204A>T (p.Asn402Tyr) c.1021A>T (p.Asn341Tyr) c.994A>T (p.Asn332Tyr) | |
7 | g.70766141A= | CA1716165948 | AUTS2 | c.1496A= (p.Asn499=) c.-170A= (n.-170A=) c.122A= (p.Asn41=) c.1493A= (p.Asn498=) c.340A= c.121A= n.103A= c.752A= (p.Asn251=) c.1205A= (p.Asn402=) c.1022A= (p.Asn341=) c.995A= (p.Asn332=) | |
7 | g.70766141A>C | CA367668700 | AUTS2 | c.1496A>C (p.Asn499Thr) c.-170A>C (n.-170A>C) c.122A>C (p.Asn41Thr) c.1493A>C (p.Asn498Thr) c.340A>C c.121A>C n.103A>C c.752A>C (p.Asn251Thr) c.1205A>C (p.Asn402Thr) c.1022A>C (p.Asn341Thr) c.995A>C (p.Asn332Thr) | |
7 | g.70766141A>G | CA4280688 | AUTS2 | c.1496A>G (p.Asn499Ser) c.-170A>G (n.-170A>G) c.122A>G (p.Asn41Ser) c.1493A>G (p.Asn498Ser) c.340A>G c.121A>G n.103A>G c.752A>G (p.Asn251Ser) c.1205A>G (p.Asn402Ser) c.1022A>G (p.Asn341Ser) c.995A>G (p.Asn332Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.70766141A>T | CA367668701 | AUTS2 | c.1496A>T (p.Asn499Ile) c.-170A>T (n.-170A>T) c.122A>T (p.Asn41Ile) c.1493A>T (p.Asn498Ile) c.340A>T c.121A>T n.103A>T c.752A>T (p.Asn251Ile) c.1205A>T (p.Asn402Ile) c.1022A>T (p.Asn341Ile) c.995A>T (p.Asn332Ile) | |
7 | g.70766142C>A | CA367668702 | AUTS2 | c.1497C>A (p.Asn499Lys) c.-169C>A (n.-169C>A) c.123C>A (p.Asn41Lys) c.1494C>A (p.Asn498Lys) c.341C>A c.122C>A n.104C>A c.753C>A (p.Asn251Lys) c.1206C>A (p.Asn402Lys) c.1023C>A (p.Asn341Lys) c.996C>A (p.Asn332Lys) | |
7 | g.70766142C= | CA1716165957 | AUTS2 | c.1497C= (p.Asn499=) c.-169C= (n.-169C=) c.123C= (p.Asn41=) c.1494C= (p.Asn498=) c.341C= c.122C= n.104C= c.753C= (p.Asn251=) c.1206C= (p.Asn402=) c.1023C= (p.Asn341=) c.996C= (p.Asn332=) | |
7 | g.70766142C>G | CA367668703 | AUTS2 | c.1497C>G (p.Asn499Lys) c.-169C>G (n.-169C>G) c.123C>G (p.Asn41Lys) c.1494C>G (p.Asn498Lys) c.341C>G c.122C>G n.104C>G c.753C>G (p.Asn251Lys) c.1206C>G (p.Asn402Lys) c.1023C>G (p.Asn341Lys) c.996C>G (p.Asn332Lys) | |
7 | g.70766142C>T | CA4280689 | AUTS2 | c.1497C>T (p.Asn499=) c.-169C>T (n.-169C>T) c.123C>T (p.Asn41=) c.1494C>T (p.Asn498=) c.341C>T c.122C>T n.104C>T c.753C>T (p.Asn251=) c.1206C>T (p.Asn402=) c.1023C>T (p.Asn341=) c.996C>T (p.Asn332=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70766143A>C | CA367668704 | AUTS2 | c.1498A>C (p.Thr500Pro) c.-168A>C (n.-168A>C) c.124A>C (p.Thr42Pro) c.1495A>C (p.Thr499Pro) c.342A>C c.123A>C n.105A>C c.754A>C (p.Thr252Pro) c.1207A>C (p.Thr403Pro) c.1024A>C (p.Thr342Pro) c.997A>C (p.Thr333Pro) | |
7 | g.70766143A>G | CA367668705 | AUTS2 | c.1498A>G (p.Thr500Ala) c.-168A>G (n.-168A>G) c.124A>G (p.Thr42Ala) c.1495A>G (p.Thr499Ala) c.342A>G c.123A>G n.105A>G c.754A>G (p.Thr252Ala) c.1207A>G (p.Thr403Ala) c.1024A>G (p.Thr342Ala) c.997A>G (p.Thr333Ala) | gnomAD v4 |
7 | g.70766143A>T | CA367668706 | AUTS2 | c.1498A>T (p.Thr500Ser) c.-168A>T (n.-168A>T) c.124A>T (p.Thr42Ser) c.1495A>T (p.Thr499Ser) c.342A>T c.123A>T n.105A>T c.754A>T (p.Thr252Ser) c.1207A>T (p.Thr403Ser) c.1024A>T (p.Thr342Ser) c.997A>T (p.Thr333Ser) | |
7 | g.70766144C>A | CA367668707 | AUTS2 | c.1499C>A (p.Thr500Asn) c.-167C>A (n.-167C>A) c.125C>A (p.Thr42Asn) c.1496C>A (p.Thr499Asn) c.343C>A c.124C>A n.106C>A c.755C>A (p.Thr252Asn) c.1208C>A (p.Thr403Asn) c.1025C>A (p.Thr342Asn) c.998C>A (p.Thr333Asn) | |
7 | g.70766144C>G | CA367668708 | AUTS2 | c.1499C>G (p.Thr500Ser) c.-167C>G (n.-167C>G) c.125C>G (p.Thr42Ser) c.1496C>G (p.Thr499Ser) c.343C>G c.124C>G n.106C>G c.755C>G (p.Thr252Ser) c.1208C>G (p.Thr403Ser) c.1025C>G (p.Thr342Ser) c.998C>G (p.Thr333Ser) | |
7 | g.70766144C>T | CA367668709 | AUTS2 | c.1499C>T (p.Thr500Ile) c.-167C>T (n.-167C>T) c.125C>T (p.Thr42Ile) c.1496C>T (p.Thr499Ile) c.343C>T c.124C>T n.106C>T c.755C>T (p.Thr252Ile) c.1208C>T (p.Thr403Ile) c.1025C>T (p.Thr342Ile) c.998C>T (p.Thr333Ile) | |
7 | g.70766145T>A | CA455801979 | AUTS2 | c.1500T>A (p.Thr500=) c.-166T>A (n.-166T>A) c.126T>A (p.Thr42=) c.1497T>A (p.Thr499=) c.344T>A c.125T>A n.107T>A c.756T>A (p.Thr252=) c.1209T>A (p.Thr403=) c.1026T>A (p.Thr342=) c.999T>A (p.Thr333=) | |
7 | g.70766145T>C | CA455801981 | AUTS2 | c.1500T>C (p.Thr500=) c.-166T>C (n.-166T>C) c.126T>C (p.Thr42=) c.1497T>C (p.Thr499=) c.344T>C c.125T>C n.107T>C c.756T>C (p.Thr252=) c.1209T>C (p.Thr403=) c.1026T>C (p.Thr342=) c.999T>C (p.Thr333=) | |
7 | g.70766145T>G | CA455801977 | AUTS2 | c.1500T>G (p.Thr500=) c.-166T>G (n.-166T>G) c.126T>G (p.Thr42=) c.1497T>G (p.Thr499=) c.344T>G c.125T>G n.107T>G c.756T>G (p.Thr252=) c.1209T>G (p.Thr403=) c.1026T>G (p.Thr342=) c.999T>G (p.Thr333=) | |
7 | g.70766146C>A | CA367668711 | AUTS2 | c.1501C>A (p.Arg501Ser) c.-165C>A (n.-165C>A) c.127C>A (p.Arg43Ser) c.1498C>A (p.Arg500Ser) c.345C>A c.126C>A n.108C>A c.757C>A (p.Arg253Ser) c.1210C>A (p.Arg404Ser) c.1027C>A (p.Arg343Ser) c.1000C>A (p.Arg334Ser) | gnomAD v4 |
7 | g.70766146C>G | CA367668712 | AUTS2 | c.1501C>G (p.Arg501Gly) c.-165C>G (n.-165C>G) c.127C>G (p.Arg43Gly) c.1498C>G (p.Arg500Gly) c.345C>G c.126C>G n.108C>G c.757C>G (p.Arg253Gly) c.1210C>G (p.Arg404Gly) c.1027C>G (p.Arg343Gly) c.1000C>G (p.Arg334Gly) | |
7 | g.70766146C>T | CA367668710 | AUTS2 | c.1501C>T (p.Arg501Cys) c.-165C>T (n.-165C>T) c.127C>T (p.Arg43Cys) c.1498C>T (p.Arg500Cys) c.345C>T c.126C>T n.108C>T c.757C>T (p.Arg253Cys) c.1210C>T (p.Arg404Cys) c.1027C>T (p.Arg343Cys) c.1000C>T (p.Arg334Cys) | |
7 | g.70766147G>A | CA367668713 | AUTS2 | c.1502G>A (p.Arg501His) c.-164G>A (n.-164G>A) c.128G>A (p.Arg43His) c.1499G>A (p.Arg500His) c.346G>A c.127G>A n.109G>A c.758G>A (p.Arg253His) c.1211G>A (p.Arg404His) c.1028G>A (p.Arg343His) c.1001G>A (p.Arg334His) | |
7 | g.70766147G>C | CA367668714 | AUTS2 | c.1502G>C (p.Arg501Pro) c.-164G>C (n.-164G>C) c.128G>C (p.Arg43Pro) c.1499G>C (p.Arg500Pro) c.346G>C c.127G>C n.109G>C c.758G>C (p.Arg253Pro) c.1211G>C (p.Arg404Pro) c.1028G>C (p.Arg343Pro) c.1001G>C (p.Arg334Pro) | |
7 | g.70766147G>T | CA367668715 | AUTS2 | c.1502G>T (p.Arg501Leu) c.-164G>T (n.-164G>T) c.128G>T (p.Arg43Leu) c.1499G>T (p.Arg500Leu) c.346G>T c.127G>T n.109G>T c.758G>T (p.Arg253Leu) c.1211G>T (p.Arg404Leu) c.1028G>T (p.Arg343Leu) c.1001G>T (p.Arg334Leu) | |
7 | g.70766148T>A | CA455801993 | AUTS2 | c.1503T>A (p.Arg501=) c.-163T>A (n.-163T>A) c.129T>A (p.Arg43=) c.1500T>A (p.Arg500=) c.347T>A c.128T>A n.110T>A c.759T>A (p.Arg253=) c.1212T>A (p.Arg404=) c.1029T>A (p.Arg343=) c.1002T>A (p.Arg334=) | |
7 | g.70766148T>C | CA455801991 | AUTS2 | c.1503T>C (p.Arg501=) c.-163T>C (n.-163T>C) c.129T>C (p.Arg43=) c.1500T>C (p.Arg500=) c.347T>C c.128T>C n.110T>C c.759T>C (p.Arg253=) c.1212T>C (p.Arg404=) c.1029T>C (p.Arg343=) c.1002T>C (p.Arg334=) | |
7 | g.70766148T>G | CA455801990 | AUTS2 | c.1503T>G (p.Arg501=) c.-163T>G (n.-163T>G) c.129T>G (p.Arg43=) c.1500T>G (p.Arg500=) c.347T>G c.128T>G n.110T>G c.759T>G (p.Arg253=) c.1212T>G (p.Arg404=) c.1029T>G (p.Arg343=) c.1002T>G (p.Arg334=) | |
7 | g.70766153dup | CA2840388935 | AUTS2 | c.1508dup (p.Leu503PhefsTer7) c.-158dup (n.-158dup) c.134dup (p.Leu45PhefsTer7) c.1505dup (p.Leu502PhefsTer7) c.352dup c.133dup n.115dup c.764dup (p.Leu255PhefsTer7) c.1217dup (p.Leu406PhefsTer7) c.1034dup (p.Leu345PhefsTer7) c.1007dup (p.Leu336PhefsTer7) | |
7 | g.70766153del | CA645562313 | AUTS2 | c.1508del (p.Leu503TrpfsTer?) c.-158del (n.-158del) c.134del (p.Leu45TrpfsTer?) c.1505del (p.Leu502TrpfsTer?) c.352del c.133del n.115del c.764del (p.Leu255TrpfsTer?) c.1217del (p.Leu406TrpfsTer?) c.1034del (p.Leu345TrpfsTer?) c.1007del (p.Leu336TrpfsTer?) | COSMIC |
7 | g.70766149T>A | CA367668716 | AUTS2 | c.1504T>A (p.Phe502Ile) c.-162T>A (n.-162T>A) c.130T>A (p.Phe44Ile) c.1501T>A (p.Phe501Ile) c.348T>A c.129T>A n.111T>A c.760T>A (p.Phe254Ile) c.1213T>A (p.Phe405Ile) c.1030T>A (p.Phe344Ile) c.1003T>A (p.Phe335Ile) | |
7 | g.70766149T>C | CA367668717 | AUTS2 | c.1504T>C (p.Phe502Leu) c.-162T>C (n.-162T>C) c.130T>C (p.Phe44Leu) c.1501T>C (p.Phe501Leu) c.348T>C c.129T>C n.111T>C c.760T>C (p.Phe254Leu) c.1213T>C (p.Phe405Leu) c.1030T>C (p.Phe344Leu) c.1003T>C (p.Phe335Leu) | |
7 | g.70766149T>G | CA367668718 | AUTS2 | c.1504T>G (p.Phe502Val) c.-162T>G (n.-162T>G) c.130T>G (p.Phe44Val) c.1501T>G (p.Phe501Val) c.348T>G c.129T>G n.111T>G c.760T>G (p.Phe254Val) c.1213T>G (p.Phe405Val) c.1030T>G (p.Phe344Val) c.1003T>G (p.Phe335Val) | |
7 | g.70766150T>A | CA367668719 | AUTS2 | c.1505T>A (p.Phe502Tyr) c.-161T>A (n.-161T>A) c.131T>A (p.Phe44Tyr) c.1502T>A (p.Phe501Tyr) c.349T>A c.130T>A n.112T>A c.761T>A (p.Phe254Tyr) c.1214T>A (p.Phe405Tyr) c.1031T>A (p.Phe344Tyr) c.1004T>A (p.Phe335Tyr) | |
7 | g.70766150T>C | CA367668721 | AUTS2 | c.1505T>C (p.Phe502Ser) c.-161T>C (n.-161T>C) c.131T>C (p.Phe44Ser) c.1502T>C (p.Phe501Ser) c.349T>C c.130T>C n.112T>C c.761T>C (p.Phe254Ser) c.1214T>C (p.Phe405Ser) c.1031T>C (p.Phe344Ser) c.1004T>C (p.Phe335Ser) | |
7 | g.70766150T>G | CA367668720 | AUTS2 | c.1505T>G (p.Phe502Cys) c.-161T>G (n.-161T>G) c.131T>G (p.Phe44Cys) c.1502T>G (p.Phe501Cys) c.349T>G c.130T>G n.112T>G c.761T>G (p.Phe254Cys) c.1214T>G (p.Phe405Cys) c.1031T>G (p.Phe344Cys) c.1004T>G (p.Phe335Cys) | gnomAD v4 |
7 | g.70766151T>A | CA367668722 | AUTS2 | c.1506T>A (p.Phe502Leu) c.-160T>A (n.-160T>A) c.132T>A (p.Phe44Leu) c.1503T>A (p.Phe501Leu) c.350T>A c.131T>A n.113T>A c.762T>A (p.Phe254Leu) c.1215T>A (p.Phe405Leu) c.1032T>A (p.Phe344Leu) c.1005T>A (p.Phe335Leu) | |
7 | g.70766151T>C | CA455802002 | AUTS2 | c.1506T>C (p.Phe502=) c.-160T>C (n.-160T>C) c.132T>C (p.Phe44=) c.1503T>C (p.Phe501=) c.350T>C c.131T>C n.113T>C c.762T>C (p.Phe254=) c.1215T>C (p.Phe405=) c.1032T>C (p.Phe344=) c.1005T>C (p.Phe335=) | |
7 | g.70766151T>G | CA367668723 | AUTS2 | c.1506T>G (p.Phe502Leu) c.-160T>G (n.-160T>G) c.132T>G (p.Phe44Leu) c.1503T>G (p.Phe501Leu) c.350T>G c.131T>G n.113T>G c.762T>G (p.Phe254Leu) c.1215T>G (p.Phe405Leu) c.1032T>G (p.Phe344Leu) c.1005T>G (p.Phe335Leu) | COSMIC |
7 | g.70766152T>A | CA367668724 | AUTS2 | c.1507T>A (p.Leu503Met) c.-159T>A (n.-159T>A) c.133T>A (p.Leu45Met) c.1504T>A (p.Leu502Met) c.351T>A c.132T>A n.114T>A c.763T>A (p.Leu255Met) c.1216T>A (p.Leu406Met) c.1033T>A (p.Leu345Met) c.1006T>A (p.Leu336Met) | |
7 | g.70766152T>C | CA455802005 | AUTS2 | c.1507T>C (p.Leu503=) c.-159T>C (n.-159T>C) c.133T>C (p.Leu45=) c.1504T>C (p.Leu502=) c.351T>C c.132T>C n.114T>C c.763T>C (p.Leu255=) c.1216T>C (p.Leu406=) c.1033T>C (p.Leu345=) c.1006T>C (p.Leu336=) | |
7 | g.70766152T>G | CA367668725 | AUTS2 | c.1507T>G (p.Leu503Val) c.-159T>G (n.-159T>G) c.133T>G (p.Leu45Val) c.1504T>G (p.Leu502Val) c.351T>G c.132T>G n.114T>G c.763T>G (p.Leu255Val) c.1216T>G (p.Leu406Val) c.1033T>G (p.Leu345Val) c.1006T>G (p.Leu336Val) | |
7 | g.70766153T>A | CA367668728 | AUTS2 | c.1508T>A (p.Leu503Ter) c.-158T>A (n.-158T>A) c.134T>A (p.Leu45Ter) c.1505T>A (p.Leu502Ter) c.352T>A c.133T>A n.115T>A c.764T>A (p.Leu255Ter) c.1217T>A (p.Leu406Ter) c.1034T>A (p.Leu345Ter) c.1007T>A (p.Leu336Ter) | |
7 | g.70766153T>C | CA367668726 | AUTS2 | c.1508T>C (p.Leu503Ser) c.-158T>C (n.-158T>C) c.134T>C (p.Leu45Ser) c.1505T>C (p.Leu502Ser) c.352T>C c.133T>C n.115T>C c.764T>C (p.Leu255Ser) c.1217T>C (p.Leu406Ser) c.1034T>C (p.Leu345Ser) c.1007T>C (p.Leu336Ser) | |
7 | g.70766153T>G | CA367668727 | AUTS2 | c.1508T>G (p.Leu503Trp) c.-158T>G (n.-158T>G) c.134T>G (p.Leu45Trp) c.1505T>G (p.Leu502Trp) c.352T>G c.133T>G n.115T>G c.764T>G (p.Leu255Trp) c.1217T>G (p.Leu406Trp) c.1034T>G (p.Leu345Trp) c.1007T>G (p.Leu336Trp) | |
7 | g.70766154G>A | CA455802013 | AUTS2 | c.1509G>A (p.Leu503=) c.-157G>A (n.-157G>A) c.135G>A (p.Leu45=) c.1506G>A (p.Leu502=) c.353G>A c.134G>A n.116G>A c.765G>A (p.Leu255=) c.1218G>A (p.Leu406=) c.1035G>A (p.Leu345=) c.1008G>A (p.Leu336=) | |
7 | g.70766154G>C | CA367668729 | AUTS2 | c.1509G>C (p.Leu503Phe) c.-157G>C (n.-157G>C) c.135G>C (p.Leu45Phe) c.1506G>C (p.Leu502Phe) c.353G>C c.134G>C n.116G>C c.765G>C (p.Leu255Phe) c.1218G>C (p.Leu406Phe) c.1035G>C (p.Leu345Phe) c.1008G>C (p.Leu336Phe) | |
7 | g.70766154G>T | CA367668730 | AUTS2 | c.1509G>T (p.Leu503Phe) c.-157G>T (n.-157G>T) c.135G>T (p.Leu45Phe) c.1506G>T (p.Leu502Phe) c.353G>T c.134G>T n.116G>T c.765G>T (p.Leu255Phe) c.1218G>T (p.Leu406Phe) c.1035G>T (p.Leu345Phe) c.1008G>T (p.Leu336Phe) | |
7 | g.70766155G>A | CA367668731 | AUTS2 | c.1510G>A (p.Ala504Thr) c.-156G>A (n.-156G>A) c.136G>A (p.Ala46Thr) c.1507G>A (p.Ala503Thr) c.354G>A c.135G>A n.117G>A c.766G>A (p.Ala256Thr) c.1219G>A (p.Ala407Thr) c.1036G>A (p.Ala346Thr) c.1009G>A (p.Ala337Thr) | gnomAD v4 |
7 | g.70766155G>C | CA367668732 | AUTS2 | c.1510G>C (p.Ala504Pro) c.-156G>C (n.-156G>C) c.136G>C (p.Ala46Pro) c.1507G>C (p.Ala503Pro) c.354G>C c.135G>C n.117G>C c.766G>C (p.Ala256Pro) c.1219G>C (p.Ala407Pro) c.1036G>C (p.Ala346Pro) c.1009G>C (p.Ala337Pro) | |
7 | g.70766155G>T | CA367668733 | AUTS2 | c.1510G>T (p.Ala504Ser) c.-156G>T (n.-156G>T) c.136G>T (p.Ala46Ser) c.1507G>T (p.Ala503Ser) c.354G>T c.135G>T n.117G>T c.766G>T (p.Ala256Ser) c.1219G>T (p.Ala407Ser) c.1036G>T (p.Ala346Ser) c.1009G>T (p.Ala337Ser) | |
7 | g.70766156C>A | CA367668734 | AUTS2 | c.1511C>A (p.Ala504Asp) c.-155C>A (n.-155C>A) c.137C>A (p.Ala46Asp) c.1508C>A (p.Ala503Asp) c.355C>A c.136C>A n.118C>A c.767C>A (p.Ala256Asp) c.1220C>A (p.Ala407Asp) c.1037C>A (p.Ala346Asp) c.1010C>A (p.Ala337Asp) | |
7 | g.70766156C>G | CA367668735 | AUTS2 | c.1511C>G (p.Ala504Gly) c.-155C>G (n.-155C>G) c.137C>G (p.Ala46Gly) c.1508C>G (p.Ala503Gly) c.355C>G c.136C>G n.118C>G c.767C>G (p.Ala256Gly) c.1220C>G (p.Ala407Gly) c.1037C>G (p.Ala346Gly) c.1010C>G (p.Ala337Gly) | |
7 | g.70766156C>T | CA367668736 | AUTS2 | c.1511C>T (p.Ala504Val) c.-155C>T (n.-155C>T) c.137C>T (p.Ala46Val) c.1508C>T (p.Ala503Val) c.355C>T c.136C>T n.118C>T c.767C>T (p.Ala256Val) c.1220C>T (p.Ala407Val) c.1037C>T (p.Ala346Val) c.1010C>T (p.Ala337Val) | |
7 | g.70766157C>A | CA455802021 | AUTS2 | c.1512C>A (p.Ala504=) c.-154C>A (n.-154C>A) c.138C>A (p.Ala46=) c.1509C>A (p.Ala503=) c.356C>A c.137C>A n.119C>A c.768C>A (p.Ala256=) c.1221C>A (p.Ala407=) c.1038C>A (p.Ala346=) c.1011C>A (p.Ala337=) | |
7 | g.70766157C>G | CA455802023 | AUTS2 | c.1512C>G (p.Ala504=) c.-154C>G (n.-154C>G) c.138C>G (p.Ala46=) c.1509C>G (p.Ala503=) c.356C>G c.137C>G n.119C>G c.768C>G (p.Ala256=) c.1221C>G (p.Ala407=) c.1038C>G (p.Ala346=) c.1011C>G (p.Ala337=) | |
7 | g.70766157C>T | CA455802024 | AUTS2 | c.1512C>T (p.Ala504=) c.-154C>T (n.-154C>T) c.138C>T (p.Ala46=) c.1509C>T (p.Ala503=) c.356C>T c.137C>T n.119C>T c.768C>T (p.Ala256=) c.1221C>T (p.Ala407=) c.1038C>T (p.Ala346=) c.1011C>T (p.Ala337=) | |
7 | g.70766158T>A | CA367668737 | AUTS2 | c.1513T>A (p.Ser505Thr) c.-153T>A (n.-153T>A) c.139T>A (p.Ser47Thr) c.1510T>A (p.Ser504Thr) c.357T>A c.138T>A n.120T>A c.769T>A (p.Ser257Thr) c.1222T>A (p.Ser408Thr) c.1039T>A (p.Ser347Thr) c.1012T>A (p.Ser338Thr) | |
7 | g.70766158T>C | CA367668738 | AUTS2 | c.1513T>C (p.Ser505Pro) c.-153T>C (n.-153T>C) c.139T>C (p.Ser47Pro) c.1510T>C (p.Ser504Pro) c.357T>C c.138T>C n.120T>C c.769T>C (p.Ser257Pro) c.1222T>C (p.Ser408Pro) c.1039T>C (p.Ser347Pro) c.1012T>C (p.Ser338Pro) | |
7 | g.70766158T>G | CA367668739 | AUTS2 | c.1513T>G (p.Ser505Ala) c.-153T>G (n.-153T>G) c.139T>G (p.Ser47Ala) c.1510T>G (p.Ser504Ala) c.357T>G c.138T>G n.120T>G c.769T>G (p.Ser257Ala) c.1222T>G (p.Ser408Ala) c.1039T>G (p.Ser347Ala) c.1012T>G (p.Ser338Ala) | |
7 | g.70766159C>A | CA367668740 | AUTS2 | c.1514C>A (p.Ser505Tyr) c.-152C>A (n.-152C>A) c.140C>A (p.Ser47Tyr) c.1511C>A (p.Ser504Tyr) c.358C>A c.139C>A n.121C>A c.770C>A (p.Ser257Tyr) c.1223C>A (p.Ser408Tyr) c.1040C>A (p.Ser347Tyr) c.1013C>A (p.Ser338Tyr) | |
7 | g.70766159C>G | CA367668741 | AUTS2 | c.1514C>G (p.Ser505Cys) c.-152C>G (n.-152C>G) c.140C>G (p.Ser47Cys) c.1511C>G (p.Ser504Cys) c.358C>G c.139C>G n.121C>G c.770C>G (p.Ser257Cys) c.1223C>G (p.Ser408Cys) c.1040C>G (p.Ser347Cys) c.1013C>G (p.Ser338Cys) | |
7 | g.70766159C>T | CA367668742 | AUTS2 | c.1514C>T (p.Ser505Phe) c.-152C>T (n.-152C>T) c.140C>T (p.Ser47Phe) c.1511C>T (p.Ser504Phe) c.358C>T c.139C>T n.121C>T c.770C>T (p.Ser257Phe) c.1223C>T (p.Ser408Phe) c.1040C>T (p.Ser347Phe) c.1013C>T (p.Ser338Phe) | |
7 | g.70766160T>A | CA455802033 | AUTS2 | c.1515T>A (p.Ser505=) c.-151T>A (n.-151T>A) c.141T>A (p.Ser47=) c.1512T>A (p.Ser504=) c.359T>A c.140T>A n.122T>A c.771T>A (p.Ser257=) c.1224T>A (p.Ser408=) c.1041T>A (p.Ser347=) c.1014T>A (p.Ser338=) | gnomAD v4 |
7 | g.70766160T>C | CA455802035 | AUTS2 | c.1515T>C (p.Ser505=) c.-151T>C (n.-151T>C) c.141T>C (p.Ser47=) c.1512T>C (p.Ser504=) c.359T>C c.140T>C n.122T>C c.771T>C (p.Ser257=) c.1224T>C (p.Ser408=) c.1041T>C (p.Ser347=) c.1014T>C (p.Ser338=) | |
7 | g.70766160T>G | CA455802036 | AUTS2 | c.1515T>G (p.Ser505=) c.-151T>G (n.-151T>G) c.141T>G (p.Ser47=) c.1512T>G (p.Ser504=) c.359T>G c.140T>G n.122T>G c.771T>G (p.Ser257=) c.1224T>G (p.Ser408=) c.1041T>G (p.Ser347=) c.1014T>G (p.Ser338=) | |
7 | g.70766161C>A | CA367668745 | AUTS2 | c.1516C>A (p.Gln506Lys) c.-150C>A (n.-150C>A) c.142C>A (p.Gln48Lys) c.1513C>A (p.Gln505Lys) c.360C>A c.141C>A n.123C>A c.772C>A (p.Gln258Lys) c.1225C>A (p.Gln409Lys) c.1042C>A (p.Gln348Lys) c.1015C>A (p.Gln339Lys) | |
7 | g.70766161C>G | CA367668743 | AUTS2 | c.1516C>G (p.Gln506Glu) c.-150C>G (n.-150C>G) c.142C>G (p.Gln48Glu) c.1513C>G (p.Gln505Glu) c.360C>G c.141C>G n.123C>G c.772C>G (p.Gln258Glu) c.1225C>G (p.Gln409Glu) c.1042C>G (p.Gln348Glu) c.1015C>G (p.Gln339Glu) | |
7 | g.70766161C>T | CA367668744 | AUTS2 | c.1516C>T (p.Gln506Ter) c.-150C>T (n.-150C>T) c.142C>T (p.Gln48Ter) c.1513C>T (p.Gln505Ter) c.360C>T c.141C>T n.123C>T c.772C>T (p.Gln258Ter) c.1225C>T (p.Gln409Ter) c.1042C>T (p.Gln348Ter) c.1015C>T (p.Gln339Ter) | COSMIC |
7 | g.70766162A>C | CA367668746 | AUTS2 | c.1517A>C (p.Gln506Pro) c.-149A>C (n.-149A>C) c.143A>C (p.Gln48Pro) c.1514A>C (p.Gln505Pro) c.361A>C c.142A>C n.124A>C c.773A>C (p.Gln258Pro) c.1226A>C (p.Gln409Pro) c.1043A>C (p.Gln348Pro) c.1016A>C (p.Gln339Pro) | |
7 | g.70766162A>G | CA367668747 | AUTS2 | c.1517A>G (p.Gln506Arg) c.-149A>G (n.-149A>G) c.143A>G (p.Gln48Arg) c.1514A>G (p.Gln505Arg) c.361A>G c.142A>G n.124A>G c.773A>G (p.Gln258Arg) c.1226A>G (p.Gln409Arg) c.1043A>G (p.Gln348Arg) c.1016A>G (p.Gln339Arg) | |
7 | g.70766162A>T | CA367668748 | AUTS2 | c.1517A>T (p.Gln506Leu) c.-149A>T (n.-149A>T) c.143A>T (p.Gln48Leu) c.1514A>T (p.Gln505Leu) c.361A>T c.142A>T n.124A>T c.773A>T (p.Gln258Leu) c.1226A>T (p.Gln409Leu) c.1043A>T (p.Gln348Leu) c.1016A>T (p.Gln339Leu) | |
7 | g.70766163G>A | CA4280690 | AUTS2 | c.1518G>A (p.Gln506=) c.-148G>A (n.-148G>A) c.144G>A (p.Gln48=) c.1515G>A (p.Gln505=) c.362G>A c.143G>A n.125G>A c.774G>A (p.Gln258=) c.1227G>A (p.Gln409=) c.1044G>A (p.Gln348=) c.1017G>A (p.Gln339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70766163G>C | CA367668749 | AUTS2 | c.1518G>C (p.Gln506His) c.-148G>C (n.-148G>C) c.144G>C (p.Gln48His) c.1515G>C (p.Gln505His) c.362G>C c.143G>C n.125G>C c.774G>C (p.Gln258His) c.1227G>C (p.Gln409His) c.1044G>C (p.Gln348His) c.1017G>C (p.Gln339His) | |
7 | g.70766163G= | CA1716165961 | AUTS2 | c.1518G= (p.Gln506=) c.-148G= (n.-148G=) c.144G= (p.Gln48=) c.1515G= (p.Gln505=) c.362G= c.143G= n.125G= c.774G= (p.Gln258=) c.1227G= (p.Gln409=) c.1044G= (p.Gln348=) c.1017G= (p.Gln339=) | |
7 | g.70766163G>T | CA367668750 | AUTS2 | c.1518G>T (p.Gln506His) c.-148G>T (n.-148G>T) c.144G>T (p.Gln48His) c.1515G>T (p.Gln505His) c.362G>T c.143G>T n.125G>T c.774G>T (p.Gln258His) c.1227G>T (p.Gln409His) c.1044G>T (p.Gln348His) c.1017G>T (p.Gln339His) | |
7 | g.70766164A= | CA1716165967 | AUTS2 | c.1519A= (p.Ser507=) c.-147A= (n.-147A=) c.145A= (p.Ser49=) c.1516A= (p.Ser506=) c.363A= c.144A= n.126A= c.775A= (p.Ser259=) c.1228A= (p.Ser410=) c.1045A= (p.Ser349=) c.1018A= (p.Ser340=) | |
7 | g.70766164A>C | CA367668751 | AUTS2 | c.1519A>C (p.Ser507Arg) c.-147A>C (n.-147A>C) c.145A>C (p.Ser49Arg) c.1516A>C (p.Ser506Arg) c.363A>C c.144A>C n.126A>C c.775A>C (p.Ser259Arg) c.1228A>C (p.Ser410Arg) c.1045A>C (p.Ser349Arg) c.1018A>C (p.Ser340Arg) | |
7 | g.70766164A>G | CA160025931 | AUTS2 | c.1519A>G (p.Ser507Gly) c.-147A>G (n.-147A>G) c.145A>G (p.Ser49Gly) c.1516A>G (p.Ser506Gly) c.363A>G c.144A>G n.126A>G c.775A>G (p.Ser259Gly) c.1228A>G (p.Ser410Gly) c.1045A>G (p.Ser349Gly) c.1018A>G (p.Ser340Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.70766164A>T | CA367668752 | AUTS2 | c.1519A>T (p.Ser507Cys) c.-147A>T (n.-147A>T) c.145A>T (p.Ser49Cys) c.1516A>T (p.Ser506Cys) c.363A>T c.144A>T n.126A>T c.775A>T (p.Ser259Cys) c.1228A>T (p.Ser410Cys) c.1045A>T (p.Ser349Cys) c.1018A>T (p.Ser340Cys) | dbSNP |
7 | g.70766165G>A | CA367668753 | AUTS2 | c.1520G>A (p.Ser507Asn) c.-146G>A (n.-146G>A) c.146G>A (p.Ser49Asn) c.1517G>A (p.Ser506Asn) c.364G>A c.145G>A n.127G>A c.776G>A (p.Ser259Asn) c.1229G>A (p.Ser410Asn) c.1046G>A (p.Ser349Asn) c.1019G>A (p.Ser340Asn) | |
7 | g.70766165G>C | CA367668754 | AUTS2 | c.1520G>C (p.Ser507Thr) c.-146G>C (n.-146G>C) c.146G>C (p.Ser49Thr) c.1517G>C (p.Ser506Thr) c.364G>C c.145G>C n.127G>C c.776G>C (p.Ser259Thr) c.1229G>C (p.Ser410Thr) c.1046G>C (p.Ser349Thr) c.1019G>C (p.Ser340Thr) | |
7 | g.70766165G>T | CA367668755 | AUTS2 | c.1520G>T (p.Ser507Ile) c.-146G>T (n.-146G>T) c.146G>T (p.Ser49Ile) c.1517G>T (p.Ser506Ile) c.364G>T c.145G>T n.127G>T c.776G>T (p.Ser259Ile) c.1229G>T (p.Ser410Ile) c.1046G>T (p.Ser349Ile) c.1019G>T (p.Ser340Ile) | |
7 | g.70766166T>A | CA367668757 | AUTS2 | c.1521T>A (p.Ser507Arg) c.-145T>A (n.-145T>A) c.147T>A (p.Ser49Arg) c.1518T>A (p.Ser506Arg) c.365T>A c.146T>A n.128T>A c.777T>A (p.Ser259Arg) c.1230T>A (p.Ser410Arg) c.1047T>A (p.Ser349Arg) c.1020T>A (p.Ser340Arg) | gnomAD v4 |
7 | g.70766166T>C | CA455802054 | AUTS2 | c.1521T>C (p.Ser507=) c.-145T>C (n.-145T>C) c.147T>C (p.Ser49=) c.1518T>C (p.Ser506=) c.365T>C c.146T>C n.128T>C c.777T>C (p.Ser259=) c.1230T>C (p.Ser410=) c.1047T>C (p.Ser349=) c.1020T>C (p.Ser340=) | |
7 | g.70766166T>G | CA367668756 | AUTS2 | c.1521T>G (p.Ser507Arg) c.-145T>G (n.-145T>G) c.147T>G (p.Ser49Arg) c.1518T>G (p.Ser506Arg) c.365T>G c.146T>G n.128T>G c.777T>G (p.Ser259Arg) c.1230T>G (p.Ser410Arg) c.1047T>G (p.Ser349Arg) c.1020T>G (p.Ser340Arg) | gnomAD v4 |
7 | g.70766167G>A | CA367668758 | AUTS2 | c.1522G>A (p.Ala508Thr) c.-144G>A (n.-144G>A) c.148G>A (p.Ala50Thr) c.1519G>A (p.Ala507Thr) c.366G>A c.147G>A n.129G>A c.778G>A (p.Ala260Thr) c.1231G>A (p.Ala411Thr) c.1048G>A (p.Ala350Thr) c.1021G>A (p.Ala341Thr) | |
7 | g.70766167G>C | CA367668759 | AUTS2 | c.1522G>C (p.Ala508Pro) c.-144G>C (n.-144G>C) c.148G>C (p.Ala50Pro) c.1519G>C (p.Ala507Pro) c.366G>C c.147G>C n.129G>C c.778G>C (p.Ala260Pro) c.1231G>C (p.Ala411Pro) c.1048G>C (p.Ala350Pro) c.1021G>C (p.Ala341Pro) | |
7 | g.70766167G>T | CA367668760 | AUTS2 | c.1522G>T (p.Ala508Ser) c.-144G>T (n.-144G>T) c.148G>T (p.Ala50Ser) c.1519G>T (p.Ala507Ser) c.366G>T c.147G>T n.129G>T c.778G>T (p.Ala260Ser) c.1231G>T (p.Ala411Ser) c.1048G>T (p.Ala350Ser) c.1021G>T (p.Ala341Ser) | |
7 | g.70766168C>A | CA367668761 | AUTS2 | c.1523C>A (p.Ala508Asp) c.-143C>A (n.-143C>A) c.149C>A (p.Ala50Asp) c.1520C>A (p.Ala507Asp) c.367C>A c.148C>A n.130C>A c.779C>A (p.Ala260Asp) c.1232C>A (p.Ala411Asp) c.1049C>A (p.Ala350Asp) c.1022C>A (p.Ala341Asp) | |
7 | g.70766168C= | CA1716165969 | AUTS2 | c.1523C= (p.Ala508=) c.-143C= (n.-143C=) c.149C= (p.Ala50=) c.1520C= (p.Ala507=) c.367C= c.148C= n.130C= c.779C= (p.Ala260=) c.1232C= (p.Ala411=) c.1049C= (p.Ala350=) c.1022C= (p.Ala341=) | |
7 | g.70766168C>G | CA367668762 | AUTS2 | c.1523C>G (p.Ala508Gly) c.-143C>G (n.-143C>G) c.149C>G (p.Ala50Gly) c.1520C>G (p.Ala507Gly) c.367C>G c.148C>G n.130C>G c.779C>G (p.Ala260Gly) c.1232C>G (p.Ala411Gly) c.1049C>G (p.Ala350Gly) c.1022C>G (p.Ala341Gly) | |
7 | g.70766168C>T | CA367668763 | AUTS2 | c.1523C>T (p.Ala508Val) c.-143C>T (n.-143C>T) c.149C>T (p.Ala50Val) c.1520C>T (p.Ala507Val) c.367C>T c.148C>T n.130C>T c.779C>T (p.Ala260Val) c.1232C>T (p.Ala411Val) c.1049C>T (p.Ala350Val) c.1022C>T (p.Ala341Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.70766169T>A | CA455802062 | AUTS2 | c.1524T>A (p.Ala508=) c.-142T>A (n.-142T>A) c.150T>A (p.Ala50=) c.1521T>A (p.Ala507=) c.368T>A c.149T>A n.131T>A c.780T>A (p.Ala260=) c.1233T>A (p.Ala411=) c.1050T>A (p.Ala350=) c.1023T>A (p.Ala341=) | |
7 | g.70766169T>C | CA4280691 | AUTS2 | c.1524T>C (p.Ala508=) c.-142T>C (n.-142T>C) c.150T>C (p.Ala50=) c.1521T>C (p.Ala507=) c.368T>C c.149T>C n.131T>C c.780T>C (p.Ala260=) c.1233T>C (p.Ala411=) c.1050T>C (p.Ala350=) c.1023T>C (p.Ala341=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70766169T>G | CA455802065 | AUTS2 | c.1524T>G (p.Ala508=) c.-142T>G (n.-142T>G) c.150T>G (p.Ala50=) c.1521T>G (p.Ala507=) c.368T>G c.149T>G n.131T>G c.780T>G (p.Ala260=) c.1233T>G (p.Ala411=) c.1050T>G (p.Ala350=) c.1023T>G (p.Ala341=) | |
7 | g.70766169T= | CA1716165973 | AUTS2 | c.1524T= (p.Ala508=) c.-142T= (n.-142T=) c.150T= (p.Ala50=) c.1521T= (p.Ala507=) c.368T= c.149T= n.131T= c.780T= (p.Ala260=) c.1233T= (p.Ala411=) c.1050T= (p.Ala350=) c.1023T= (p.Ala341=) | |
7 | g.70766170G>A | CA367668766 | AUTS2 | c.1525G>A (p.Asp509Asn) c.-141G>A (n.-141G>A) c.151G>A (p.Asp51Asn) c.1522G>A (p.Asp508Asn) c.369G>A c.150G>A n.132G>A c.781G>A (p.Asp261Asn) c.1234G>A (p.Asp412Asn) c.1051G>A (p.Asp351Asn) c.1024G>A (p.Asp342Asn) | |
7 | g.70766170G>C | CA367668764 | AUTS2 | c.1525G>C (p.Asp509His) c.-141G>C (n.-141G>C) c.151G>C (p.Asp51His) c.1522G>C (p.Asp508His) c.369G>C c.150G>C n.132G>C c.781G>C (p.Asp261His) c.1234G>C (p.Asp412His) c.1051G>C (p.Asp351His) c.1024G>C (p.Asp342His) | |
7 | g.70766170G>T | CA367668765 | AUTS2 | c.1525G>T (p.Asp509Tyr) c.-141G>T (n.-141G>T) c.151G>T (p.Asp51Tyr) c.1522G>T (p.Asp508Tyr) c.369G>T c.150G>T n.132G>T c.781G>T (p.Asp261Tyr) c.1234G>T (p.Asp412Tyr) c.1051G>T (p.Asp351Tyr) c.1024G>T (p.Asp342Tyr) | |
7 | g.70766171A>C | CA367668767 | AUTS2 | c.1526A>C (p.Asp509Ala) c.-140A>C (n.-140A>C) c.152A>C (p.Asp51Ala) c.1523A>C (p.Asp508Ala) c.370A>C c.151A>C n.133A>C c.782A>C (p.Asp261Ala) c.1235A>C (p.Asp412Ala) c.1052A>C (p.Asp351Ala) c.1025A>C (p.Asp342Ala) | |
7 | g.70766171A>G | CA367668768 | AUTS2 | c.1526A>G (p.Asp509Gly) c.-140A>G (n.-140A>G) c.152A>G (p.Asp51Gly) c.1523A>G (p.Asp508Gly) c.370A>G c.151A>G n.133A>G c.782A>G (p.Asp261Gly) c.1235A>G (p.Asp412Gly) c.1052A>G (p.Asp351Gly) c.1025A>G (p.Asp342Gly) | |
7 | g.70766171A>T | CA367668769 | AUTS2 | c.1526A>T (p.Asp509Val) c.-140A>T (n.-140A>T) c.152A>T (p.Asp51Val) c.1523A>T (p.Asp508Val) c.370A>T c.151A>T n.133A>T c.782A>T (p.Asp261Val) c.1235A>T (p.Asp412Val) c.1052A>T (p.Asp351Val) c.1025A>T (p.Asp342Val) | |
7 | g.70766172C>A | CA367668770 | AUTS2 | c.1527C>A (p.Asp509Glu) c.-139C>A (n.-139C>A) c.153C>A (p.Asp51Glu) c.1524C>A (p.Asp508Glu) c.371C>A c.152C>A n.134C>A c.783C>A (p.Asp261Glu) c.1236C>A (p.Asp412Glu) c.1053C>A (p.Asp351Glu) c.1026C>A (p.Asp342Glu) | ClinVar |
7 | g.70766172C>G | CA367668771 | AUTS2 | c.1527C>G (p.Asp509Glu) c.-139C>G (n.-139C>G) c.153C>G (p.Asp51Glu) c.1524C>G (p.Asp508Glu) c.371C>G c.152C>G n.134C>G c.783C>G (p.Asp261Glu) c.1236C>G (p.Asp412Glu) c.1053C>G (p.Asp351Glu) c.1026C>G (p.Asp342Glu) | |
7 | g.70766172C>T | CA455802075 | AUTS2 | c.1527C>T (p.Asp509=) c.-139C>T (n.-139C>T) c.153C>T (p.Asp51=) c.1524C>T (p.Asp508=) c.371C>T c.152C>T n.134C>T c.783C>T (p.Asp261=) c.1236C>T (p.Asp412=) c.1053C>T (p.Asp351=) c.1026C>T (p.Asp342=) | |
7 | g.70766173C>A | CA367668772 | AUTS2 | c.1528C>A (p.Arg510Ser) c.-138C>A (n.-138C>A) c.154C>A (p.Arg52Ser) c.1525C>A (p.Arg509Ser) c.372C>A c.153C>A n.135C>A c.784C>A (p.Arg262Ser) c.1237C>A (p.Arg413Ser) c.1054C>A (p.Arg352Ser) c.1027C>A (p.Arg343Ser) | |
7 | g.70766173C= | CA1716165978 | AUTS2 | c.1528C= (p.Arg510=) c.-138C= (n.-138C=) c.154C= (p.Arg52=) c.1525C= (p.Arg509=) c.372C= c.153C= n.135C= c.784C= (p.Arg262=) c.1237C= (p.Arg413=) c.1054C= (p.Arg352=) c.1027C= (p.Arg343=) | |
7 | g.70766173C>G | CA367668773 | AUTS2 | c.1528C>G (p.Arg510Gly) c.-138C>G (n.-138C>G) c.154C>G (p.Arg52Gly) c.1525C>G (p.Arg509Gly) c.372C>G c.153C>G n.135C>G c.784C>G (p.Arg262Gly) c.1237C>G (p.Arg413Gly) c.1054C>G (p.Arg352Gly) c.1027C>G (p.Arg343Gly) | |
7 | g.70766173C>T | CA160025947 | AUTS2 | c.1528C>T (p.Arg510Cys) c.-138C>T (n.-138C>T) c.154C>T (p.Arg52Cys) c.1525C>T (p.Arg509Cys) c.372C>T c.153C>T n.135C>T c.784C>T (p.Arg262Cys) c.1237C>T (p.Arg413Cys) c.1054C>T (p.Arg352Cys) c.1027C>T (p.Arg343Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.70766174G>A | CA4280692 | AUTS2 | c.1529G>A (p.Arg510His) c.-137G>A (n.-137G>A) c.155G>A (p.Arg52His) c.1526G>A (p.Arg509His) c.373G>A c.154G>A n.136G>A c.785G>A (p.Arg262His) c.1238G>A (p.Arg413His) c.1055G>A (p.Arg352His) c.1028G>A (p.Arg343His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70766174G>C | CA367668774 | AUTS2 | c.1529G>C (p.Arg510Pro) c.-137G>C (n.-137G>C) c.155G>C (p.Arg52Pro) c.1526G>C (p.Arg509Pro) c.373G>C c.154G>C n.136G>C c.785G>C (p.Arg262Pro) c.1238G>C (p.Arg413Pro) c.1055G>C (p.Arg352Pro) c.1028G>C (p.Arg343Pro) | COSMIC |
7 | g.70766174G= | CA1716165984 | AUTS2 | c.1529G= (p.Arg510=) c.-137G= (n.-137G=) c.155G= (p.Arg52=) c.1526G= (p.Arg509=) c.373G= c.154G= n.136G= c.785G= (p.Arg262=) c.1238G= (p.Arg413=) c.1055G= (p.Arg352=) c.1028G= (p.Arg343=) | |
7 | g.70766174G>T | CA367668775 | AUTS2 | c.1529G>T (p.Arg510Leu) c.-137G>T (n.-137G>T) c.155G>T (p.Arg52Leu) c.1526G>T (p.Arg509Leu) c.373G>T c.154G>T n.136G>T c.785G>T (p.Arg262Leu) c.1238G>T (p.Arg413Leu) c.1055G>T (p.Arg352Leu) c.1028G>T (p.Arg343Leu) | gnomAD v4 |
7 | g.70766175C>A | CA4280694 | AUTS2 | c.1530C>A (p.Arg510=) c.-136C>A (n.-136C>A) c.156C>A (p.Arg52=) c.1527C>A (p.Arg509=) c.374C>A c.155C>A n.137C>A c.786C>A (p.Arg262=) c.1239C>A (p.Arg413=) c.1056C>A (p.Arg352=) c.1029C>A (p.Arg343=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70766175C= | CA1716165989 | AUTS2 | c.1530C= (p.Arg510=) c.-136C= (n.-136C=) c.156C= (p.Arg52=) c.1527C= (p.Arg509=) c.374C= c.155C= n.137C= c.786C= (p.Arg262=) c.1239C= (p.Arg413=) c.1056C= (p.Arg352=) c.1029C= (p.Arg343=) | |
7 | g.70766175C>G | CA455802084 | AUTS2 | c.1530C>G (p.Arg510=) c.-136C>G (n.-136C>G) c.156C>G (p.Arg52=) c.1527C>G (p.Arg509=) c.374C>G c.155C>G n.137C>G c.786C>G (p.Arg262=) c.1239C>G (p.Arg413=) c.1056C>G (p.Arg352=) c.1029C>G (p.Arg343=) | |
7 | g.70766175C>T | CA4280693 | AUTS2 | c.1530C>T (p.Arg510=) c.-136C>T (n.-136C>T) c.156C>T (p.Arg52=) c.1527C>T (p.Arg509=) c.374C>T c.155C>T n.137C>T c.786C>T (p.Arg262=) c.1239C>T (p.Arg413=) c.1056C>T (p.Arg352=) c.1029C>T (p.Arg343=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.70766175_70767024del | CA2697557293 | AUTS2 | c.1530_1689+690del c.-136_24+690del c.156_315+690del c.1527_1686+690del c.374_554+669del c.155_314+690del n.137_296+690del c.786_945+690del c.156_336+669del c.1530_1710+669del c.1527_1707+669del c.1239_1419+669del c.1056_1236+669del c.1029_1209+669del | ClinVar |
7 | g.70766176G>A | CA367668776 | AUTS2 | c.1531G>A (p.Gly511Arg) c.-135G>A (n.-135G>A) c.157G>A (p.Gly53Arg) c.1528G>A (p.Gly510Arg) c.375G>A c.156G>A n.138G>A c.787G>A (p.Gly263Arg) c.1240G>A (p.Gly414Arg) c.1057G>A (p.Gly353Arg) c.1030G>A (p.Gly344Arg) | ClinVar gnomAD v4 COSMIC |
7 | g.70766176G>C | CA367668777 | AUTS2 | c.1531G>C (p.Gly511Arg) c.-135G>C (n.-135G>C) c.157G>C (p.Gly53Arg) c.1528G>C (p.Gly510Arg) c.375G>C c.156G>C n.138G>C c.787G>C (p.Gly263Arg) c.1240G>C (p.Gly414Arg) c.1057G>C (p.Gly353Arg) c.1030G>C (p.Gly344Arg) | |
7 | g.70766176G>T | CA367668778 | AUTS2 | c.1531G>T (p.Gly511Trp) c.-135G>T (n.-135G>T) c.157G>T (p.Gly53Trp) c.1528G>T (p.Gly510Trp) c.375G>T c.156G>T n.138G>T c.787G>T (p.Gly263Trp) c.1240G>T (p.Gly414Trp) c.1057G>T (p.Gly353Trp) c.1030G>T (p.Gly344Trp) | |
7 | g.70766179dup | CA1139660096 | AUTS2 | c.1534dup (p.Ala512GlyfsTer?) c.-132dup (n.-132dup) c.160dup (p.Ala54GlyfsTer?) c.1531dup (p.Ala511GlyfsTer?) c.378dup c.159dup n.141dup c.790dup (p.Ala264GlyfsTer?) c.1243dup (p.Ala415GlyfsTer?) c.1060dup (p.Ala354GlyfsTer?) c.1033dup (p.Ala345GlyfsTer?) | ClinVar dbSNP |
7 | g.70766177G>A | CA367668779 | AUTS2 | c.1532G>A (p.Gly511Glu) c.-134G>A (n.-134G>A) c.158G>A (p.Gly53Glu) c.1529G>A (p.Gly510Glu) c.376G>A c.157G>A n.139G>A c.788G>A (p.Gly263Glu) c.1241G>A (p.Gly414Glu) c.1058G>A (p.Gly353Glu) c.1031G>A (p.Gly344Glu) | |
7 | g.70766177G>C | CA367668780 | AUTS2 | c.1532G>C (p.Gly511Ala) c.-134G>C (n.-134G>C) c.158G>C (p.Gly53Ala) c.1529G>C (p.Gly510Ala) c.376G>C c.157G>C n.139G>C c.788G>C (p.Gly263Ala) c.1241G>C (p.Gly414Ala) c.1058G>C (p.Gly353Ala) c.1031G>C (p.Gly344Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.70766177G= | CA1716165997 | AUTS2 | c.1532G= (p.Gly511=) c.-134G= (n.-134G=) c.158G= (p.Gly53=) c.1529G= (p.Gly510=) c.376G= c.157G= n.139G= c.788G= (p.Gly263=) c.1241G= (p.Gly414=) c.1058G= (p.Gly353=) c.1031G= (p.Gly344=) | |
7 | g.70766177G>T | CA367668781 | AUTS2 | c.1532G>T (p.Gly511Val) c.-134G>T (n.-134G>T) c.158G>T (p.Gly53Val) c.1529G>T (p.Gly510Val) c.376G>T c.157G>T n.139G>T c.788G>T (p.Gly263Val) c.1241G>T (p.Gly414Val) c.1058G>T (p.Gly353Val) c.1031G>T (p.Gly344Val) | |
7 | g.70766178G>A | CA455802093 | AUTS2 | c.1533G>A (p.Gly511=) c.-133G>A (n.-133G>A) c.159G>A (p.Gly53=) c.1530G>A (p.Gly510=) c.377G>A c.158G>A n.140G>A c.789G>A (p.Gly263=) c.1242G>A (p.Gly414=) c.1059G>A (p.Gly353=) c.1032G>A (p.Gly344=) | |
7 | g.70766178G>C | CA455802095 | AUTS2 | c.1533G>C (p.Gly511=) c.-133G>C (n.-133G>C) c.159G>C (p.Gly53=) c.1530G>C (p.Gly510=) c.377G>C c.158G>C n.140G>C c.789G>C (p.Gly263=) c.1242G>C (p.Gly414=) c.1059G>C (p.Gly353=) c.1032G>C (p.Gly344=) | |
7 | g.70766178G>T | CA455802097 | AUTS2 | c.1533G>T (p.Gly511=) c.-133G>T (n.-133G>T) c.159G>T (p.Gly53=) c.1530G>T (p.Gly510=) c.377G>T c.158G>T n.140G>T c.789G>T (p.Gly263=) c.1242G>T (p.Gly414=) c.1059G>T (p.Gly353=) c.1032G>T (p.Gly344=) | |
7 | g.70766179G>A | CA367668782 | AUTS2 | c.1534G>A (p.Ala512Thr) c.-132G>A (n.-132G>A) c.160G>A (p.Ala54Thr) c.1531G>A (p.Ala511Thr) c.378G>A c.159G>A n.141G>A c.790G>A (p.Ala264Thr) c.1243G>A (p.Ala415Thr) c.1060G>A (p.Ala354Thr) c.1033G>A (p.Ala345Thr) | gnomAD v4 |
7 | g.70766179G>C | CA367668784 | AUTS2 | c.1534G>C (p.Ala512Pro) c.-132G>C (n.-132G>C) c.160G>C (p.Ala54Pro) c.1531G>C (p.Ala511Pro) c.378G>C c.159G>C n.141G>C c.790G>C (p.Ala264Pro) c.1243G>C (p.Ala415Pro) c.1060G>C (p.Ala354Pro) c.1033G>C (p.Ala345Pro) | |
7 | g.70766179G>T | CA367668783 | AUTS2 | c.1534G>T (p.Ala512Ser) c.-132G>T (n.-132G>T) c.160G>T (p.Ala54Ser) c.1531G>T (p.Ala511Ser) c.378G>T c.159G>T n.141G>T c.790G>T (p.Ala264Ser) c.1243G>T (p.Ala415Ser) c.1060G>T (p.Ala354Ser) c.1033G>T (p.Ala345Ser) | |
7 | g.70766180C>A | CA367668785 | AUTS2 | c.1535C>A (p.Ala512Asp) c.-131C>A (n.-131C>A) c.161C>A (p.Ala54Asp) c.1532C>A (p.Ala511Asp) c.379C>A c.160C>A n.142C>A c.791C>A (p.Ala264Asp) c.1244C>A (p.Ala415Asp) c.1061C>A (p.Ala354Asp) c.1034C>A (p.Ala345Asp) | |
7 | g.70766180C>G | CA367668786 | AUTS2 | c.1535C>G (p.Ala512Gly) c.-131C>G (n.-131C>G) c.161C>G (p.Ala54Gly) c.1532C>G (p.Ala511Gly) c.379C>G c.160C>G n.142C>G c.791C>G (p.Ala264Gly) c.1244C>G (p.Ala415Gly) c.1061C>G (p.Ala354Gly) c.1034C>G (p.Ala345Gly) | |
7 | g.70766180C>T | CA367668787 | AUTS2 | c.1535C>T (p.Ala512Val) c.-131C>T (n.-131C>T) c.161C>T (p.Ala54Val) c.1532C>T (p.Ala511Val) c.379C>T c.160C>T n.142C>T c.791C>T (p.Ala264Val) c.1244C>T (p.Ala415Val) c.1061C>T (p.Ala354Val) c.1034C>T (p.Ala345Val) | |
7 | g.70766181T>A | CA455802104 | AUTS2 | c.1536T>A (p.Ala512=) c.-130T>A (n.-130T>A) c.162T>A (p.Ala54=) c.1533T>A (p.Ala511=) c.380T>A c.161T>A n.143T>A c.792T>A (p.Ala264=) c.1245T>A (p.Ala415=) c.1062T>A (p.Ala354=) c.1035T>A (p.Ala345=) | |
7 | g.70766181T>C | CA455802108 | AUTS2 | c.1536T>C (p.Ala512=) c.-130T>C (n.-130T>C) c.162T>C (p.Ala54=) c.1533T>C (p.Ala511=) c.380T>C c.161T>C n.143T>C c.792T>C (p.Ala264=) c.1245T>C (p.Ala415=) c.1062T>C (p.Ala354=) c.1035T>C (p.Ala345=) | ClinVar dbSNP gnomAD v4 |
7 | g.70766181T>G | CA455802106 | AUTS2 | c.1536T>G (p.Ala512=) c.-130T>G (n.-130T>G) c.162T>G (p.Ala54=) c.1533T>G (p.Ala511=) c.380T>G c.161T>G n.143T>G c.792T>G (p.Ala264=) c.1245T>G (p.Ala415=) c.1062T>G (p.Ala354=) c.1035T>G (p.Ala345=) | |
7 | g.70766181T= | CA1716166000 | AUTS2 | c.1536T= (p.Ala512=) c.-130T= (n.-130T=) c.162T= (p.Ala54=) c.1533T= (p.Ala511=) c.380T= c.161T= n.143T= c.792T= (p.Ala264=) c.1245T= (p.Ala415=) c.1062T= (p.Ala354=) c.1035T= (p.Ala345=) | |
7 | g.70766182T>A | CA367668788 | AUTS2 | c.1537T>A (p.Ser513Thr) c.-129T>A (n.-129T>A) c.163T>A (p.Ser55Thr) c.1534T>A (p.Ser512Thr) c.381T>A c.162T>A n.144T>A c.793T>A (p.Ser265Thr) c.1246T>A (p.Ser416Thr) c.1063T>A (p.Ser355Thr) c.1036T>A (p.Ser346Thr) | |
7 | g.70766182T>C | CA367668789 | AUTS2 | c.1537T>C (p.Ser513Pro) c.-129T>C (n.-129T>C) c.163T>C (p.Ser55Pro) c.1534T>C (p.Ser512Pro) c.381T>C c.162T>C n.144T>C c.793T>C (p.Ser265Pro) c.1246T>C (p.Ser416Pro) c.1063T>C (p.Ser355Pro) c.1036T>C (p.Ser346Pro) | |
7 | g.70766182T>G | CA367668790 | AUTS2 | c.1537T>G (p.Ser513Ala) c.-129T>G (n.-129T>G) c.163T>G (p.Ser55Ala) c.1534T>G (p.Ser512Ala) c.381T>G c.162T>G n.144T>G c.793T>G (p.Ser265Ala) c.1246T>G (p.Ser416Ala) c.1063T>G (p.Ser355Ala) c.1036T>G (p.Ser346Ala) | |
7 | g.70766183C>A | CA367668792 | AUTS2 | c.1538C>A (p.Ser513Tyr) c.-128C>A (n.-128C>A) c.164C>A (p.Ser55Tyr) c.1535C>A (p.Ser512Tyr) c.382C>A c.163C>A n.145C>A c.794C>A (p.Ser265Tyr) c.1247C>A (p.Ser416Tyr) c.1064C>A (p.Ser355Tyr) c.1037C>A (p.Ser346Tyr) | gnomAD v4 |
7 | g.70766183C= | CA1716166003 | AUTS2 | c.1538C= (p.Ser513=) c.-128C= (n.-128C=) c.164C= (p.Ser55=) c.1535C= (p.Ser512=) c.382C= c.163C= n.145C= c.794C= (p.Ser265=) c.1247C= (p.Ser416=) c.1064C= (p.Ser355=) c.1037C= (p.Ser346=) | |
7 | g.70766183C>G | CA160025957 | AUTS2 | c.1538C>G (p.Ser513Cys) c.-128C>G (n.-128C>G) c.164C>G (p.Ser55Cys) c.1535C>G (p.Ser512Cys) c.382C>G c.163C>G n.145C>G c.794C>G (p.Ser265Cys) c.1247C>G (p.Ser416Cys) c.1064C>G (p.Ser355Cys) c.1037C>G (p.Ser346Cys) | dbSNP |
7 | g.70766183C>T | CA367668791 | AUTS2 | c.1538C>T (p.Ser513Phe) c.-128C>T (n.-128C>T) c.164C>T (p.Ser55Phe) c.1535C>T (p.Ser512Phe) c.382C>T c.163C>T n.145C>T c.794C>T (p.Ser265Phe) c.1247C>T (p.Ser416Phe) c.1064C>T (p.Ser355Phe) c.1037C>T (p.Ser346Phe) | |
7 | g.70766184C>A | CA455802116 | AUTS2 | c.1539C>A (p.Ser513=) c.-127C>A (n.-127C>A) c.165C>A (p.Ser55=) c.1536C>A (p.Ser512=) c.383C>A c.164C>A n.146C>A c.795C>A (p.Ser265=) c.1248C>A (p.Ser416=) c.1065C>A (p.Ser355=) c.1038C>A (p.Ser346=) | |
7 | g.70766184C>G | CA455802120 | AUTS2 | c.1539C>G (p.Ser513=) c.-127C>G (n.-127C>G) c.165C>G (p.Ser55=) c.1536C>G (p.Ser512=) c.383C>G c.164C>G n.146C>G c.795C>G (p.Ser265=) c.1248C>G (p.Ser416=) c.1065C>G (p.Ser355=) c.1038C>G (p.Ser346=) | |
7 | g.70766184C>T | CA455802118 | AUTS2 | c.1539C>T (p.Ser513=) c.-127C>T (n.-127C>T) c.165C>T (p.Ser55=) c.1536C>T (p.Ser512=) c.383C>T c.164C>T n.146C>T c.795C>T (p.Ser265=) c.1248C>T (p.Ser416=) c.1065C>T (p.Ser355=) c.1038C>T (p.Ser346=) | |
7 | g.70766185C>A | CA367668793 | AUTS2 | c.1540C>A (p.Leu514Met) c.-126C>A (n.-126C>A) c.166C>A (p.Leu56Met) c.1537C>A (p.Leu513Met) c.384C>A c.165C>A n.147C>A c.796C>A (p.Leu266Met) c.1249C>A (p.Leu417Met) c.1066C>A (p.Leu356Met) c.1039C>A (p.Leu347Met) | |
7 | g.70766185C>G | CA367668794 | AUTS2 | c.1540C>G (p.Leu514Val) c.-126C>G (n.-126C>G) c.166C>G (p.Leu56Val) c.1537C>G (p.Leu513Val) c.384C>G c.165C>G n.147C>G c.796C>G (p.Leu266Val) c.1249C>G (p.Leu417Val) c.1066C>G (p.Leu356Val) c.1039C>G (p.Leu347Val) | |
7 | g.70766185C>T | CA455802122 | AUTS2 | c.1540C>T (p.Leu514=) c.-126C>T (n.-126C>T) c.166C>T (p.Leu56=) c.1537C>T (p.Leu513=) c.384C>T c.165C>T n.147C>T c.796C>T (p.Leu266=) c.1249C>T (p.Leu417=) c.1066C>T (p.Leu356=) c.1039C>T (p.Leu347=) | gnomAD v4 COSMIC |
7 | g.70766186T>A | CA367668795 | AUTS2 | c.1541T>A (p.Leu514Gln) c.-125T>A (n.-125T>A) c.167T>A (p.Leu56Gln) c.1538T>A (p.Leu513Gln) c.385T>A c.166T>A n.148T>A c.797T>A (p.Leu266Gln) c.1250T>A (p.Leu417Gln) c.1067T>A (p.Leu356Gln) c.1040T>A (p.Leu347Gln) | |
7 | g.70766186T>C | CA367668796 | AUTS2 | c.1541T>C (p.Leu514Pro) c.-125T>C (n.-125T>C) c.167T>C (p.Leu56Pro) c.1538T>C (p.Leu513Pro) c.385T>C c.166T>C n.148T>C c.797T>C (p.Leu266Pro) c.1250T>C (p.Leu417Pro) c.1067T>C (p.Leu356Pro) c.1040T>C (p.Leu347Pro) | |
7 | g.70766186T>G | CA367668797 | AUTS2 | c.1541T>G (p.Leu514Arg) c.-125T>G (n.-125T>G) c.167T>G (p.Leu56Arg) c.1538T>G (p.Leu513Arg) c.385T>G c.166T>G n.148T>G c.797T>G (p.Leu266Arg) c.1250T>G (p.Leu417Arg) c.1067T>G (p.Leu356Arg) c.1040T>G (p.Leu347Arg) | |
7 | g.70766187G>A | CA455802129 | AUTS2 | c.1542G>A (p.Leu514=) c.-124G>A (n.-124G>A) c.168G>A (p.Leu56=) c.1539G>A (p.Leu513=) c.386G>A c.167G>A n.149G>A c.798G>A (p.Leu266=) c.1251G>A (p.Leu417=) c.1068G>A (p.Leu356=) c.1041G>A (p.Leu347=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.70766187G>C | CA160025964 | AUTS2 | c.1542G>C (p.Leu514=) c.-124G>C (n.-124G>C) c.168G>C (p.Leu56=) c.1539G>C (p.Leu513=) c.386G>C c.167G>C n.149G>C c.798G>C (p.Leu266=) c.1251G>C (p.Leu417=) c.1068G>C (p.Leu356=) c.1041G>C (p.Leu347=) | dbSNP |
7 | g.70766187G= | CA1716166007 | AUTS2 | c.1542G= (p.Leu514=) c.-124G= (n.-124G=) c.168G= (p.Leu56=) c.1539G= (p.Leu513=) c.386G= c.167G= n.149G= c.798G= (p.Leu266=) c.1251G= (p.Leu417=) c.1068G= (p.Leu356=) c.1041G= (p.Leu347=) | |
7 | g.70766187G>T | CA455802131 | AUTS2 | c.1542G>T (p.Leu514=) c.-124G>T (n.-124G>T) c.168G>T (p.Leu56=) c.1539G>T (p.Leu513=) c.386G>T c.167G>T n.149G>T c.798G>T (p.Leu266=) c.1251G>T (p.Leu417=) c.1068G>T (p.Leu356=) c.1041G>T (p.Leu347=) |