Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.204190393_204190431del | CA2650014585 | KISS1 | c.*59_*97del (n.*59_*97del) | gnomAD v4 |
1 | g.204190398_204190430del | CA2650014593 | KISS1 | c.*57_*89del (n.*57_*89del) | gnomAD v4 |
1 | g.204190419_204190431dup | CA730306993 | KISS1 | c.*62_*74dup (n.*62_*74dup) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190419_204190431del | CA2573985715 | KISS1 | c.*62_*74del (n.*62_*74del) | gnomAD v4 |
1 | g.204190413_204190431del | CA2650014704 | KISS1 | c.*56_*74del (n.*56_*74del) | gnomAD v4 |
1 | g.204190410_204190434del | CA2650014705 | KISS1 | c.*50_*74del (n.*50_*74del) | gnomAD v4 |
1 | g.204190416_204190473del | CA2650014706 | KISS1 | c.*17_*74del (n.*17_*74del) | gnomAD v4 |
1 | g.204190418_204190495del | CA2650014707 | KISS1 | c.414_*74del (n.[c.414_*74del;Ter139ArgextTer16]) | gnomAD v4 |
1 | g.204190426_204190431dup | CA1011398153 | KISS1 | c.*63_*68dup (n.*63_*68dup) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190426_204190431del | CA2573986082 | KISS1 | c.*63_*68del (n.*63_*68del) | gnomAD v4 |
1 | g.204190418_204190433del | CA2650014829 | KISS1 | c.*52_*67del (n.*52_*67del) | gnomAD v4 |
1 | g.204190427_204190429del | CA2650014883 | KISS1 | c.*57_*59del (n.*57_*59del) | gnomAD v4 |
1 | g.204190427_204190432del | CA2650014894 | KISS1 | c.*52_*57del (n.*52_*57del) | gnomAD v4 |
1 | g.204190429C>A | CA2650014911 | KISS1 | c.*55G>T (n.*55G>T) | gnomAD v4 |
1 | g.204190429C>G | CA2650014910 | KISS1 | c.*55G>C (n.*55G>C) | gnomAD v4 |
1 | g.204190429C>T | CA2573986241 | KISS1 | c.*55G>A (n.*55G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190431_204190432insCCCATCCC | CA2747426751 | KISS1 | c.*55_*56insATGGGGGG (n.*55_*56insATGGGGGG) | |
1 | g.204190431_204190432insCCCCACCC | CA2650014921 | KISS1 | c.*55_*56insTGGGGGGG (n.*55_*56insTGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCTCCC | CA2747426752 | KISS1 | c.*55_*56insAGGGGGGG (n.*55_*56insAGGGGGGG) | |
1 | g.204190431_204190432insCCCCCTCCC | CA1011398187 | KISS1 | c.*55_*56insAGGGGGGGG (n.*55_*56insAGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.204190431_204190432insCCCCCCACCC | CA2650014920 | KISS1 | c.*55_*56insTGGGGGGGGG (n.*55_*56insTGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCACCC | CA2650014919 | KISS1 | c.*55_*56insTGGGGGGGGGG (n.*55_*56insTGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCTCCC | CA2650014909 | KISS1 | c.*55_*56insAGGGGGGGGGG (n.*55_*56insAGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCACCC | CA2650014918 | KISS1 | c.*55_*56insTGGGGGGGGGGG (n.*55_*56insTGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCTCCC | CA2650014912 | KISS1 | c.*55_*56insAGGGGGGGGGGG (n.*55_*56insAGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCTCCC | CA2650014913 | KISS1 | c.*55_*56insAGGGGGGGGGGGG (n.*55_*56insAGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCTCCC | CA2650014915 | KISS1 | c.*55_*56insAGGGGGGGGGGGGG (n.*55_*56insAGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCTCCC | CA2650014916 | KISS1 | c.*55_*56insAGGGGGGGGGGGGGG (n.*55_*56insAGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCTCTCCC | CA2650014914 | KISS1 | c.*55_*56insAGAGGGGGGGGGGGGG (n.*55_*56insAGAGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCCCCCCCCCTCCC | CA2650014917 | KISS1 | c.*55_*56insAGGGGGGGGGGGGGGGGGGGGGG (n.*55_*56insAGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190430C= | CA2482070138 | KISS1 | c.*54G= (n.*54G=) | |
1 | g.204190430C>T | CA35752112 | KISS1 | c.*54G>A (n.*54G>A) | dbSNP gnomAD v4 |
1 | g.204190431_204190432insCCTCC | CA2650014923 | KISS1 | c.*54_*55insAGGGG (n.*54_*55insAGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCACC | CA2650014933 | KISS1 | c.*54_*55insTGGGGG (n.*54_*55insTGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCAACC | CA2650014934 | KISS1 | c.*54_*55insTTGGGGG (n.*54_*55insTTGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCACC | CA2556081486 | KISS1 | c.*54_*55insTGGGGGG (n.*54_*55insTGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCACC | CA2650014935 | KISS1 | c.*54_*55insTGGGGGGG (n.*54_*55insTGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCTCC | CA2747426753 | KISS1 | c.*54_*55insAGGGGGGGGG (n.*54_*55insAGGGGGGGGG) | |
1 | g.204190431_204190432insCCCCCCCCTCC | CA2650014925 | KISS1 | c.*54_*55insAGGGGGGGGGG (n.*54_*55insAGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCTCC | CA2650014926 | KISS1 | c.*54_*55insAGGGGGGGGGGG (n.*54_*55insAGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCTCC | CA2650014927 | KISS1 | c.*54_*55insAGGGGGGGGGGGG (n.*54_*55insAGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCATGCTCTGACTCC | CA2650014931 | KISS1 | c.*54_*55insAGTCAGAGCATGGG (n.*54_*55insAGTCAGAGCATGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCTCC | CA2650014930 | KISS1 | c.*54_*55insAGGGGGGGGGGGGG (n.*54_*55insAGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCATGCTCTGACTCC | CA2650014932 | KISS1 | c.*54_*55insAGTCAGAGCATGGGG (n.*54_*55insAGTCAGAGCATGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCCTCC | CA2650014928 | KISS1 | c.*54_*55insAGGGGGGGGGGGGGG (n.*54_*55insAGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCTGCTCTGACTCC | CA2650014924 | KISS1 | c.*54_*55insAGTCAGAGCAGGGGG (n.*54_*55insAGTCAGAGCAGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCATGCTCTGACTCC | CA2650014936 | KISS1 | c.*54_*55insAGTCAGAGCATGGGGGGGG (n.*54_*55insAGTCAGAGCATGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCCCCCCCCTCC | CA2650014929 | KISS1 | c.*54_*55insAGGGGGGGGGGGGGGGGGGGG (n.*54_*55insAGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCCCCCCCCCCTCC | CA2650014937 | KISS1 | c.*54_*55insAGGGGGGGGGGGGGGGGGGGGGG (n.*54_*55insAGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190432_204190446dup | CA2650014922 | KISS1 | c.*40_*54dup (n.*40_*54dup) | gnomAD v4 |
1 | g.204190431C>A | CA2650014956 | KISS1 | c.*53G>T (n.*53G>T) | gnomAD v4 |
1 | g.204190431C>T | CA2650014957 | KISS1 | c.*53G>A (n.*53G>A) | gnomAD v4 |
1 | g.204190431_204190432insCCAC | CA2650014972 | KISS1 | c.*53_*54insTGGG (n.*53_*54insTGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCAGC | CA2650014960 | KISS1 | c.*53_*54insCTGGG (n.*53_*54insCTGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCAC | CA2650014962 | KISS1 | c.*53_*54insTGGGG (n.*53_*54insTGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCATGC | CA2650014961 | KISS1 | c.*53_*54insCATGGG (n.*53_*54insCATGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCAGC | CA2650014958 | KISS1 | c.*53_*54insCTGGGG (n.*53_*54insCTGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCAC | CA2650014963 | KISS1 | c.*53_*54insTGGGGG (n.*53_*54insTGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCTGC | CA2650014952 | KISS1 | c.*53_*54insCAGGGG (n.*53_*54insCAGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCAAC | CA2650014964 | KISS1 | c.*53_*54insTTGGGGG (n.*53_*54insTTGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCAGC | CA2482070139 | KISS1 | c.*53_*54insCTGGGGG (n.*53_*54insCTGGGGG) | dbSNP gnomAD v4 |
1 | g.204190431_204190432insCCCCATC | CA2650014966 | KISS1 | c.*53_*54insATGGGGG (n.*53_*54insATGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCAC | CA2650014967 | KISS1 | c.*53_*54insTGGGGGG (n.*53_*54insTGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCGC | CA2650014947 | KISS1 | c.*53_*54insCGGGGGG (n.*53_*54insCGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCTC | CA2650014949 | KISS1 | c.*53_*54insAGGGGGG (n.*53_*54insAGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCGGC | CA2650014950 | KISS1 | c.*53_*54insCCGGGGG (n.*53_*54insCCGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCTGC | CA2650014951 | KISS1 | c.*53_*54insCAGGGGG (n.*53_*54insCAGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCAC | CA2650014968 | KISS1 | c.*53_*54insTGGGGGGG (n.*53_*54insTGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCGC | CA2650014945 | KISS1 | c.*53_*54insCGGGGGGG (n.*53_*54insCGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCTC | CA2650014946 | KISS1 | c.*53_*54insAGGGGGGG (n.*53_*54insAGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCTGCTC | CA2650014953 | KISS1 | c.*53_*54insAGCAGGGG (n.*53_*54insAGCAGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCAGGAC | CA2650014965 | KISS1 | c.*53_*54insTCCTGGGGG (n.*53_*54insTCCTGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCAC | CA2650014977 | KISS1 | c.*53_*54insTGGGGGGGG (n.*53_*54insTGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCGC | CA2650014943 | KISS1 | c.*53_*54insCGGGGGGGG (n.*53_*54insCGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCTC | CA2650014944 | KISS1 | c.*53_*54insAGGGGGGGG (n.*53_*54insAGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCGCGC | CA2650014948 | KISS1 | c.*53_*54insCGCGGGGGG (n.*53_*54insCGCGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCAC | CA2650014976 | KISS1 | c.*53_*54insTGGGGGGGGG (n.*53_*54insTGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCTC | CA2650014955 | KISS1 | c.*53_*54insAGGGGGGGGG (n.*53_*54insAGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCACCCAC | CA2650014974 | KISS1 | c.*53_*54insTGGGTGGGGGG (n.*53_*54insTGGGTGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCAC | CA2650014975 | KISS1 | c.*53_*54insTGGGGGGGGGG (n.*53_*54insTGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCTC | CA1011398192 | KISS1 | c.*53_*54insAGGGGGGGGGG (n.*53_*54insAGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCTTC | CA2650014942 | KISS1 | c.*53_*54insAAGGGGGGGGG (n.*53_*54insAAGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCAC | CA2650014973 | KISS1 | c.*53_*54insTGGGGGGGGGGG (n.*53_*54insTGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCTC | CA2650014939 | KISS1 | c.*53_*54insAGGGGGGGGGGG (n.*53_*54insAGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCTTC | CA2650014940 | KISS1 | c.*53_*54insAAGGGGGGGGGG (n.*53_*54insAAGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCTCTC | CA2650014941 | KISS1 | c.*53_*54insAGAGGGGGGGGG (n.*53_*54insAGAGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCACAC | CA2650014978 | KISS1 | c.*53_*54insTGTGGGGGGGGGG (n.*53_*54insTGTGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCTC | CA2747426754 | KISS1 | c.*53_*54insAGGGGGGGGGGGG (n.*53_*54insAGGGGGGGGGGGG) | |
1 | g.204190431_204190432insCCCCCCCCCCCCTCTC | CA2650014938 | KISS1 | c.*53_*54insAGAGGGGGGGGGGGGG (n.*53_*54insAGAGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCCCCCCCTC | CA2650014959 | KISS1 | c.*53_*54insAGGGGGGGGGGGGGGGGGG (n.*53_*54insAGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCCCCCCCCTTC | CA2650014969 | KISS1 | c.*53_*54insAAGGGGGGGGGGGGGGGGGGG (n.*53_*54insAAGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCCCCCCCCCTC | CA2650014970 | KISS1 | c.*53_*54insAGGGGGGGGGGGGGGGGGGGG (n.*53_*54insAGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCCCCCCCCCCCCTC | CA2650014971 | KISS1 | c.*53_*54insAGGGGGGGGGGGGGGGGGGGGGGG (n.*53_*54insAGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190432_204190433dup | CA2650014954 | KISS1 | c.*52_*53dup (n.*52_*53dup) | gnomAD v4 |
1 | g.204190431_204190442delinsCGCATGCTCTGA | CA2482070140 | KISS1 | c.*42_*53delinsTCAGAGCATGCG (n.*42_*53delinsTCAGAGCATGCG) | |
1 | g.204190431_204190432insCA | CA2650015002 | KISS1 | c.*52_*53insTG (n.*52_*53insTG) | gnomAD v4 |
1 | g.204190431_204190432insCCA | CA2650015004 | KISS1 | c.*52_*53insTGG (n.*52_*53insTGG) | gnomAD v4 |
1 | g.204190431_204190432insCCT | CA2650014995 | KISS1 | c.*52_*53insAGG (n.*52_*53insAGG) | gnomAD v4 |
1 | g.204190431_204190432insCCAT | CA2650015005 | KISS1 | c.*52_*53insATGG (n.*52_*53insATGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCA | CA2650015007 | KISS1 | c.*52_*53insTGGG (n.*52_*53insTGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCT | CA1011398200 | KISS1 | c.*52_*53insAGGG (n.*52_*53insAGGG) | gnomAD v3 gnomAD v4 |
1 | g.204190431_204190432insCCCAA | CA1011398196 | KISS1 | c.*52_*53insTTGGG (n.*52_*53insTTGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCAG | CA2650015008 | KISS1 | c.*52_*53insCTGGG (n.*52_*53insCTGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCA | CA2563668135 | KISS1 | c.*52_*53insTGGGG (n.*52_*53insTGGGG) | gnomAD v3 gnomAD v4 |
1 | g.204190431_204190432insCCCCG | CA2650014981 | KISS1 | c.*52_*53insCGGGG (n.*52_*53insCGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCT | CA1011398199 | KISS1 | c.*52_*53insAGGGG (n.*52_*53insAGGGG) | gnomAD v3 gnomAD v4 |
1 | g.204190431_204190432insCCCAGG | CA2650015009 | KISS1 | c.*52_*53insCCTGGG (n.*52_*53insCCTGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCAA | CA2650015010 | KISS1 | c.*52_*53insTTGGGG (n.*52_*53insTTGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCAG | CA2650015011 | KISS1 | c.*52_*53insCTGGGG (n.*52_*53insCTGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCA | CA2650015028 | KISS1 | c.*52_*53insTGGGGG (n.*52_*53insTGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCG | CA2650014979 | KISS1 | c.*52_*53insCGGGGG (n.*52_*53insCGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCT | CA1011398197 | KISS1 | c.*52_*53insAGGGGG (n.*52_*53insAGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.204190431_204190432insCCCCGG | CA2650014980 | KISS1 | c.*52_*53insCCGGGG (n.*52_*53insCCGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCAGG | CA2650015029 | KISS1 | c.*52_*53insCCTGGGG (n.*52_*53insCCTGGGG) | dbSNP gnomAD v4 |
1 | g.204190431_204190432insCCCCCAG | CA2650015027 | KISS1 | c.*52_*53insCTGGGGG (n.*52_*53insCTGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCA | CA2650015025 | KISS1 | c.*52_*53insTGGGGGG (n.*52_*53insTGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCG | CA2650014989 | KISS1 | c.*52_*53insCGGGGGG (n.*52_*53insCGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCT | CA2650014986 | KISS1 | c.*52_*53insAGGGGGG (n.*52_*53insAGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCGG | CA2650014982 | KISS1 | c.*52_*53insCCGGGGG (n.*52_*53insCCGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCAGG | CA2650015026 | KISS1 | c.*52_*53insCCTGGGGG (n.*52_*53insCCTGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCA | CA2650015023 | KISS1 | c.*52_*53insTGGGGGGG (n.*52_*53insTGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCG | CA2650014991 | KISS1 | c.*52_*53insCGGGGGGG (n.*52_*53insCGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCGG | CA2650014988 | KISS1 | c.*52_*53insCCGGGGGG (n.*52_*53insCCGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCGCG | CA2650014984 | KISS1 | c.*52_*53insCGCGGGGG (n.*52_*53insCGCGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCATGCTCT | CA2650015006 | KISS1 | c.*52_*53insAGAGCATGG (n.*52_*53insAGAGCATGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCA | CA2650015015 | KISS1 | c.*52_*53insTGGGGGGGG (n.*52_*53insTGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCG | CA2650015016 | KISS1 | c.*52_*53insCGGGGGGGG (n.*52_*53insCGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCT | CA2650015003 | KISS1 | c.*52_*53insAGGGGGGGG (n.*52_*53insAGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCGCGG | CA2650014983 | KISS1 | c.*52_*53insCCGCGGGGG (n.*52_*53insCCGCGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCGGGGGG | CA2650014992 | KISS1 | c.*52_*53insCCCCCCGGG (n.*52_*53insCCCCCCGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCTGCTCT | CA2650014993 | KISS1 | c.*52_*53insAGAGCAGGG (n.*52_*53insAGAGCAGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCAGCACA | CA2650015012 | KISS1 | c.*52_*53insTGTGCTGGGG (n.*52_*53insTGTGCTGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCAGCGCG | CA2650015014 | KISS1 | c.*52_*53insCGCGCTGGGG (n.*52_*53insCGCGCTGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCAGCTCA | CA2650015001 | KISS1 | c.*52_*53insTGAGCTGGGG (n.*52_*53insTGAGCTGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCAGGA | CA2650015024 | KISS1 | c.*52_*53insTCCTGGGGGG (n.*52_*53insTCCTGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCA | CA2650015022 | KISS1 | c.*52_*53insTGGGGGGGGG (n.*52_*53insTGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCG | CA2650015018 | KISS1 | c.*52_*53insCGGGGGGGGG (n.*52_*53insCGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCT | CA2650015017 | KISS1 | c.*52_*53insAGGGGGGGGG (n.*52_*53insAGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCGGG | CA2650014990 | KISS1 | c.*52_*53insCCCGGGGGGG (n.*52_*53insCCCGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCGCCGG | CA2650014985 | KISS1 | c.*52_*53insCCGGCGGGGG (n.*52_*53insCCGGCGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCAGCCCAG | CA2650015013 | KISS1 | c.*52_*53insCTGGGCTGGGG (n.*52_*53insCTGGGCTGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCAG | CA2650015021 | KISS1 | c.*52_*53insCTGGGGGGGGG (n.*52_*53insCTGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCGGCGG | CA2650014987 | KISS1 | c.*52_*53insCCGCCGGGGGG (n.*52_*53insCCGCCGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCAG | CA2650015020 | KISS1 | c.*52_*53insCTGGGGGGGGGG (n.*52_*53insCTGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCCCCCCCCCT | CA2650015019 | KISS1 | c.*52_*53insAGGGGGGGGGGG (n.*52_*53insAGGGGGGGGGGG) | gnomAD v4 |
1 | g.204190431_204190432insCCCTGCTCTGACTCCTTTGGG | CA2650014994 | KISS1 | c.*52_*53insCCCAAAGGAGTCAGAGCAGGG (n.*52_*53insCCCAAAGGAGTCAGAGCAGGG) | gnomAD v4 |
1 | g.204190432G>A | CA35752114 | KISS1 | c.*52C>T (n.*52C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190432G>C | CA528532123 | KISS1 | c.*52C>G (n.*52C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190432G= | CA1139853475 | KISS1 | c.*52C= (n.*52C=) | |
1 | g.204190432G>T | CA2507273635 | KISS1 | c.*52C>A (n.*52C>A) | gnomAD v4 |
1 | g.204190432_204190434del | CA2650014996 | KISS1 | c.*50_*52del (n.*50_*52del) | gnomAD v4 |
1 | g.204190432_204190436del | CA2650014997 | KISS1 | c.*48_*52del (n.*48_*52del) | gnomAD v4 |
1 | g.204190432_204190438del | CA2650014998 | KISS1 | c.*46_*52del (n.*46_*52del) | gnomAD v4 |
1 | g.204190432_204190442del | CA528532122 | KISS1 | c.*42_*52del (n.*42_*52del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190432_204190444del | CA2650014999 | KISS1 | c.*40_*52del (n.*40_*52del) | gnomAD v4 |
1 | g.204190432_204190467del | CA2650015000 | KISS1 | c.*17_*52del (n.*17_*52del) | gnomAD v4 |
1 | g.204190433C>A | CA2650015031 | KISS1 | c.*51G>T (n.*51G>T) | gnomAD v4 |
1 | g.204190433C>G | CA2650015030 | KISS1 | c.*51G>C (n.*51G>C) | gnomAD v4 |
1 | g.204190433dup | CA2650015033 | KISS1 | c.*51dup (n.*51dup) | gnomAD v4 |
1 | g.204190433_204190434dup | CA2650015032 | KISS1 | c.*50_*51dup (n.*50_*51dup) | gnomAD v4 |
1 | g.204190433_204190435delinsCAT | CA2482070141 | KISS1 | c.*49_*51delinsATG (n.*49_*51delinsATG) | |
1 | g.204190433_204190434insCA | CA2650015042 | KISS1 | c.*50_*51insTG (n.*50_*51insTG) | gnomAD v4 |
1 | g.204190433_204190434insCAG | CA2650015041 | KISS1 | c.*50_*51insCTG (n.*50_*51insCTG) | gnomAD v4 |
1 | g.204190433_204190434insCCA | CA2650015040 | KISS1 | c.*50_*51insTGG (n.*50_*51insTGG) | gnomAD v4 |
1 | g.204190433_204190434insCCAA | CA2650015039 | KISS1 | c.*50_*51insTTGG (n.*50_*51insTTGG) | gnomAD v4 |
1 | g.204190433_204190434insCCAG | CA2650015038 | KISS1 | c.*50_*51insCTGG (n.*50_*51insCTGG) | gnomAD v4 |
1 | g.204190433_204190434insCCCA | CA2650015037 | KISS1 | c.*50_*51insTGGG (n.*50_*51insTGGG) | gnomAD v4 |
1 | g.204190434A= | CA2482070143 | KISS1 | c.*50T= (n.*50T=) | |
1 | g.204190434A>C | CA1345102 | KISS1 | c.*50T>G (n.*50T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190434A>G | CA2650015035 | KISS1 | c.*50T>C (n.*50T>C) | gnomAD v4 |
1 | g.204190434A>T | CA2650015034 | KISS1 | c.*50T>A (n.*50T>A) | gnomAD v4 |
1 | g.204190434_204190435del | CA528532124 | KISS1 | c.*49_*50del (n.*49_*50del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190434_204190435delinsAT | CA2482070142 | KISS1 | c.*49_*50delinsAT (n.*49_*50delinsAT) | |
1 | g.204190434_204190436del | CA1011398212 | KISS1 | c.*48_*50del (n.*48_*50del) | gnomAD v3 gnomAD v4 |
1 | g.204190434_204190438del | CA2650015036 | KISS1 | c.*46_*50del (n.*46_*50del) | gnomAD v4 |
1 | g.204190434_204190442del | CA1011398209 | KISS1 | c.*42_*50del (n.*42_*50del) | gnomAD v3 gnomAD v4 |
1 | g.204190435del | CA1011398216 | KISS1 | c.*49del (n.*49del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190435T>A | CA2650015043 | KISS1 | c.*49A>T (n.*49A>T) | gnomAD v4 |
1 | g.204190435T>C | CA1011398214 | KISS1 | c.*49A>G (n.*49A>G) | gnomAD v3 gnomAD v4 |
1 | g.204190435T>G | CA2650015044 | KISS1 | c.*49A>C (n.*49A>C) | gnomAD v4 |
1 | g.204190435_204190436insCCC | CA1011398222 | KISS1 | c.*48_*49insGGG (n.*48_*49insGGG) | gnomAD v3 gnomAD v4 |
1 | g.204190435_204190436insCCCC | CA1011398220 | KISS1 | c.*48_*49insGGGG (n.*48_*49insGGGG) | gnomAD v3 gnomAD v4 |
1 | g.204190436del | CA2650015045 | KISS1 | c.*48del (n.*48del) | gnomAD v4 |
1 | g.204190436G>A | CA2650015046 | KISS1 | c.*48C>T (n.*48C>T) | gnomAD v4 |
1 | g.204190436G>C | CA1011398223 | KISS1 | c.*48C>G (n.*48C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190436G= | CA2482070144 | KISS1 | c.*48C= (n.*48C=) | |
1 | g.204190436G>T | CA2650015047 | KISS1 | c.*48C>A (n.*48C>A) | gnomAD v4 |
1 | g.204190437C>A | CA2650015049 | KISS1 | c.*47G>T (n.*47G>T) | gnomAD v4 |
1 | g.204190437C>T | CA2650015048 | KISS1 | c.*47G>A (n.*47G>A) | gnomAD v4 |
1 | g.204190437_204190438insCC | CA2747426755 | KISS1 | c.*47_*48insGG (n.*47_*48insGG) | |
1 | g.204190437_204190438insCCCC | CA2747426756 | KISS1 | c.*47_*48insGGGG (n.*47_*48insGGGG) | |
1 | g.204190438T>A | CA1011398225 | KISS1 | c.*46A>T (n.*46A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190438T>C | CA528532125 | KISS1 | c.*46A>G (n.*46A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190438T>G | CA2573986252 | KISS1 | c.*46A>C (n.*46A>C) | gnomAD v4 |
1 | g.204190438T= | CA2482070145 | KISS1 | c.*46A= (n.*46A=) | |
1 | g.204190438_204190442del | CA2650015050 | KISS1 | c.*42_*46del (n.*42_*46del) | gnomAD v4 |
1 | g.204190439C>A | CA2650015051 | KISS1 | c.*45G>T (n.*45G>T) | gnomAD v4 |
1 | g.204190439C>T | CA2650015052 | KISS1 | c.*45G>A (n.*45G>A) | gnomAD v4 |
1 | g.204190440T>A | CA2650015054 | KISS1 | c.*44A>T (n.*44A>T) | gnomAD v4 |
1 | g.204190440T>C | CA2650015055 | KISS1 | c.*44A>G (n.*44A>G) | gnomAD v4 |
1 | g.204190440T>G | CA2650015056 | KISS1 | c.*44A>C (n.*44A>C) | gnomAD v4 |
1 | g.204190440_204190442del | CA2650015053 | KISS1 | c.*42_*44del (n.*42_*44del) | gnomAD v4 |
1 | g.204190441G>A | CA2650015057 | KISS1 | c.*43C>T (n.*43C>T) | gnomAD v4 |
1 | g.204190441G= | CA2482070146 | KISS1 | c.*43C= (n.*43C=) | |
1 | g.204190441G>T | CA2482070147 | KISS1 | c.*43C>A (n.*43C>A) | dbSNP gnomAD v4 |
1 | g.204190442A>C | CA1011398226 | KISS1 | c.*42T>G (n.*42T>G) | gnomAD v3 gnomAD v4 |
1 | g.204190442A>G | CA2650015058 | KISS1 | c.*42T>C (n.*42T>C) | gnomAD v4 |
1 | g.204190442A>T | CA1011398227 | KISS1 | c.*42T>A (n.*42T>A) | gnomAD v3 gnomAD v4 |
1 | g.204190443C= | CA2482070148 | KISS1 | c.*41G= (n.*41G=) | |
1 | g.204190443C>T | CA528532126 | KISS1 | c.*41G>A (n.*41G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190444T>A | CA2650015059 | KISS1 | c.*40A>T (n.*40A>T) | gnomAD v4 |
1 | g.204190444T>C | CA528532127 | KISS1 | c.*40A>G (n.*40A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190444T= | CA2482070149 | KISS1 | c.*40A= (n.*40A=) | |
1 | g.204190445C>A | CA2650015060 | KISS1 | c.*39G>T (n.*39G>T) | gnomAD v4 |
1 | g.204190445C>T | CA2650015061 | KISS1 | c.*39G>A (n.*39G>A) | gnomAD v4 |
1 | g.204190446C>A | CA2573986258 | KISS1 | c.*38G>T (n.*38G>T) | gnomAD v4 |
1 | g.204190446C= | CA2482070150 | KISS1 | c.*38G= (n.*38G=) | |
1 | g.204190446C>T | CA528532128 | KISS1 | c.*38G>A (n.*38G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190447T>A | CA2650015064 | KISS1 | c.*37A>T (n.*37A>T) | gnomAD v4 |
1 | g.204190447T>C | CA2650015062 | KISS1 | c.*37A>G (n.*37A>G) | gnomAD v4 |
1 | g.204190447T>G | CA2573986259 | KISS1 | c.*37A>C (n.*37A>C) | gnomAD v4 |
1 | g.204190447_204190467del | CA2650015063 | KISS1 | c.*17_*37del (n.*17_*37del) | gnomAD v4 |
1 | g.204190448T>C | CA2482070152 | KISS1 | c.*36A>G (n.*36A>G) | dbSNP gnomAD v4 |
1 | g.204190448T>G | CA2650015065 | KISS1 | c.*36A>C (n.*36A>C) | gnomAD v4 |
1 | g.204190448T= | CA2482070151 | KISS1 | c.*36A= (n.*36A=) | |
1 | g.204190449T>C | CA2573644146 | KISS1 | c.*35A>G (n.*35A>G) | gnomAD v4 |
1 | g.204190449T>G | CA2747426757 | KISS1 | c.*35A>C (n.*35A>C) | |
1 | g.204190450G>A | CA2573986304 | KISS1 | c.*34C>T (n.*34C>T) | dbSNP |
1 | g.204190450G>T | CA2650015066 | KISS1 | c.*34C>A (n.*34C>A) | gnomAD v4 |
1 | g.204190453del | CA2573986303 | KISS1 | c.*34del (n.*34del) | |
1 | g.204190451G>A | CA2650015068 | KISS1 | c.*33C>T (n.*33C>T) | gnomAD v4 |
1 | g.204190451G>T | CA2650015067 | KISS1 | c.*33C>A (n.*33C>A) | gnomAD v4 |
1 | g.204190452G>A | CA730307080 | KISS1 | c.*32C>T (n.*32C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190452G= | CA2482070153 | KISS1 | c.*32C= (n.*32C=) | |
1 | g.204190452G>T | CA2650015069 | KISS1 | c.*32C>A (n.*32C>A) | gnomAD v4 |
1 | g.204190453G>A | CA2650015070 | KISS1 | c.*31C>T (n.*31C>T) | gnomAD v4 |
1 | g.204190453G= | CA2482070154 | KISS1 | c.*31C= (n.*31C=) | |
1 | g.204190453G>T | CA35752118 | KISS1 | c.*31C>A (n.*31C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190454T>G | CA2650015071 | KISS1 | c.*30A>C (n.*30A>C) | gnomAD v4 |
1 | g.204190455C>A | CA2650015072 | KISS1 | c.*29G>T (n.*29G>T) | gnomAD v4 |
1 | g.204190456T>A | CA2573986309 | KISS1 | c.*28A>T (n.*28A>T) | |
1 | g.204190456T>C | CA2482070156 | KISS1 | c.*28A>G (n.*28A>G) | dbSNP gnomAD v4 |
1 | g.204190456T>G | CA2650015073 | KISS1 | c.*28A>C (n.*28A>C) | gnomAD v4 |
1 | g.204190456T= | CA2482070155 | KISS1 | c.*28A= (n.*28A=) | |
1 | g.204190457G>A | CA2650015074 | KISS1 | c.*27C>T (n.*27C>T) | gnomAD v4 |
1 | g.204190457G>T | CA2650015075 | KISS1 | c.*27C>A (n.*27C>A) | gnomAD v4 |
1 | g.204190459A>G | CA2650015076 | KISS1 | c.*25T>C (n.*25T>C) | gnomAD v4 |
1 | g.204190460G>A | CA2561147861 | KISS1 | c.*24C>T (n.*24C>T) | gnomAD v4 |
1 | g.204190460G>C | CA2573986310 | KISS1 | c.*24C>G (n.*24C>G) | dbSNP gnomAD v4 |
1 | g.204190460G>T | CA2650015077 | KISS1 | c.*24C>A (n.*24C>A) | gnomAD v4 |
1 | g.204190461T>G | CA2563668136 | KISS1 | c.*23A>C (n.*23A>C) | |
1 | g.204190462T>A | CA344346317 | KISS1 | c.*22A>T (n.*22A>T) c.435A>T (p.Ter145Cys) | |
1 | g.204190462T>C | CA344346318 | KISS1 | c.*22A>G (n.*22A>G) c.435A>G (p.Ter145Trp) | gnomAD v4 |
1 | g.204190462T>G | CA344346319 | KISS1 | c.*22A>C (n.*22A>C) c.435A>C (p.Ter145Cys) | |
1 | g.204190463C>A | CA344346320 | KISS1 | c.*21G>T (n.*21G>T) c.434G>T (p.Ter145Leu) | gnomAD v4 |
1 | g.204190463C= | CA2482070157 | KISS1 | c.*21G= (n.*21G=) c.434G= (p.Ter145=) | |
1 | g.204190463C>G | CA344346321 | KISS1 | c.*21G>C (n.*21G>C) c.434G>C (p.Ter145Ser) | |
1 | g.204190463C>T | CA2482070158 | KISS1 | c.*21G>A (n.*21G>A) c.434G>A (p.Ter145=) | dbSNP gnomAD v4 |
1 | g.204190464A= | CA1144121188 | KISS1 | c.*20T= (n.*20T=) c.433T= (p.Ter145=) | |
1 | g.204190464A>C | CA344346322 | KISS1 | c.*20T>G (n.*20T>G) c.433T>G (p.Ter145Gly) | |
1 | g.204190464A>G | CA1345103 | KISS1 | c.*20T>C (n.*20T>C) c.433T>C (p.Ter145Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190464A>T | CA344346323 | KISS1 | c.*20T>A (n.*20T>A) c.433T>A (p.Ter145Arg) | gnomAD v4 |
1 | g.204190465C>A | CA344346324 | KISS1 | c.*19G>T (n.*19G>T) c.432G>T (p.Gln144His) | gnomAD v4 |
1 | g.204190465C= | CA2482070159 | KISS1 | c.*19G= (n.*19G=) c.432G= (p.Gln144=) | |
1 | g.204190465C>G | CA344346325 | KISS1 | c.*19G>C (n.*19G>C) c.432G>C (p.Gln144His) | |
1 | g.204190465C>T | CA2482070160 | KISS1 | c.*19G>A (n.*19G>A) c.432G>A (p.Gln144=) | dbSNP gnomAD v4 |
1 | g.204190466T>A | CA344346326 | KISS1 | c.*18A>T (n.*18A>T) c.431A>T (p.Gln144Leu) | |
1 | g.204190466T>C | CA344346328 | KISS1 | c.*18A>G (n.*18A>G) c.431A>G (p.Gln144Arg) | |
1 | g.204190466T>G | CA344346327 | KISS1 | c.*18A>C (n.*18A>C) c.431A>C (p.Gln144Pro) | dbSNP |
1 | g.204190466T= | CA2482070161 | KISS1 | c.*18A= (n.*18A=) c.431A= (p.Gln144=) | |
1 | g.204190467G>A | CA344346329 | KISS1 | c.*17C>T (n.*17C>T) c.430C>T (p.Gln144Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190467G>C | CA344346330 | KISS1 | c.*17C>G (n.*17C>G) c.430C>G (p.Gln144Glu) | |
1 | g.204190467G= | CA2482070162 | KISS1 | c.*17C= (n.*17C=) c.430C= (p.Gln144=) | |
1 | g.204190467G>T | CA344346331 | KISS1 | c.*17C>A (n.*17C>A) c.430C>A (p.Gln144Lys) | gnomAD v4 |
1 | g.204190467_204190468insTCCCGCACCTGCGCCCTCAG | CA2606903174 | KISS1 | c.*17_*18insTGAGGGCGCAGGTGCGGGAC (n.*17_*18insTGAGGGCGCAGGTGCGGGAC) c.430_431insTGAGGGCGCAGGTGCGGGAC (p.Gln144LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190468C>A | CA2573644147 | KISS1 | c.*16G>T (n.*16G>T) c.429G>T (p.Gly143=) | gnomAD v4 |
1 | g.204190468C= | CA2482070163 | KISS1 | c.*16G= (n.*16G=) c.429G= (p.Gly143=) | |
1 | g.204190468C>G | CA2650015078 | KISS1 | c.*16G>C (n.*16G>C) c.429G>C (p.Gly143=) | gnomAD v4 |
1 | g.204190468C>T | CA1345104 | KISS1 | c.*16G>A (n.*16G>A) c.429G>A (p.Gly143=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190469C>A | CA344346332 | KISS1 | c.*15G>T (n.*15G>T) c.428G>T (p.Gly143Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190469C= | CA2482070164 | KISS1 | c.*15G= (n.*15G=) c.428G= (p.Gly143=) | |
1 | g.204190469C>G | CA344346333 | KISS1 | c.*15G>C (n.*15G>C) c.428G>C (p.Gly143Ala) | |
1 | g.204190469C>T | CA344346334 | KISS1 | c.*15G>A (n.*15G>A) c.428G>A (p.Gly143Glu) | gnomAD v4 |
1 | g.204190470C>A | CA344346335 | KISS1 | c.*14G>T (n.*14G>T) c.427G>T (p.Gly143Trp) | gnomAD v4 |
1 | g.204190470C>G | CA344346336 | KISS1 | c.*14G>C (n.*14G>C) c.427G>C (p.Gly143Arg) | |
1 | g.204190470C>T | CA344346337 | KISS1 | c.*14G>A (n.*14G>A) c.427G>A (p.Gly143Arg) | gnomAD v4 |
1 | g.204190471C>A | CA2573986334 | KISS1 | c.*13G>T (n.*13G>T) c.426G>T (p.Ala142=) | gnomAD v4 |
1 | g.204190471C= | CA2482070165 | KISS1 | c.*13G= (n.*13G=) c.426G= (p.Ala142=) | |
1 | g.204190471C>G | CA2650015079 | KISS1 | c.*13G>C (n.*13G>C) c.426G>C (p.Ala142=) | gnomAD v4 |
1 | g.204190471C>T | CA1345105 | KISS1 | c.*13G>A (n.*13G>A) c.426G>A (p.Ala142=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190472G>A | CA344346338 | KISS1 | c.*12C>T (n.*12C>T) c.425C>T (p.Ala142Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190472G>C | CA344346340 | KISS1 | c.*12C>G (n.*12C>G) c.425C>G (p.Ala142Gly) | |
1 | g.204190472G= | CA2482070166 | KISS1 | c.*12C= (n.*12C=) c.425C= (p.Ala142=) | |
1 | g.204190472G>T | CA344346339 | KISS1 | c.*12C>A (n.*12C>A) c.425C>A (p.Ala142Glu) | gnomAD v4 |
1 | g.204190472_204190480del | CA2650015082 | KISS1 | c.*4_*12del (n.*4_*12del) c.417_425del (p.Ala140_Ala142del) | gnomAD v4 |
1 | g.204190472_204190487del | CA528532131 | KISS1 | c.414_*12del (n.[c.414_*12del;Ter139GlyextTer3]) c.414_425del | gnomAD v2 gnomAD v4 |
1 | g.204190472_204190492del | CA2650015081 | KISS1 | c.409_*12del (n.[c.409_*12del;Arg137GlyfsTer?]) c.409_425del | gnomAD v4 |
1 | g.204190472_204190527del | CA2650015080 | KISS1 | c.374_*12del (n.[c.374_*12del;Glu125GlyfsTer23]) c.374_425del | gnomAD v4 |
1 | g.204190473C>A | CA344346341 | KISS1 | c.*11G>T (n.*11G>T) c.424G>T (p.Ala142Ser) | gnomAD v4 |
1 | g.204190473C= | CA2482070167 | KISS1 | c.*11G= (n.*11G=) c.424G= (p.Ala142=) | |
1 | g.204190473C>G | CA344346343 | KISS1 | c.*11G>C (n.*11G>C) c.424G>C (p.Ala142Pro) | |
1 | g.204190473C>T | CA344346342 | KISS1 | c.*11G>A (n.*11G>A) c.424G>A (p.Ala142Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190474A= | CA2482070168 | KISS1 | c.*10T= (n.*10T=) c.423T= (p.Gly141=) | |
1 | g.204190474A>C | CA35752124 | KISS1 | c.*10T>G (n.*10T>G) c.423T>G (p.Gly141=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190474A>G | CA2650015083 | KISS1 | c.*10T>C (n.*10T>C) c.423T>C (p.Gly141=) | gnomAD v4 |
1 | g.204190474A>T | CA1011398230 | KISS1 | c.*10T>A (n.*10T>A) c.423T>A (p.Gly141=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190475C>A | CA344346346 | KISS1 | c.*9G>T (n.*9G>T) c.422G>T (p.Gly141Val) | |
1 | g.204190475C>G | CA344346345 | KISS1 | c.*9G>C (n.*9G>C) c.422G>C (p.Gly141Ala) | |
1 | g.204190475C>T | CA344346344 | KISS1 | c.*9G>A (n.*9G>A) c.422G>A (p.Gly141Asp) | gnomAD v4 |
1 | g.204190487_204190488insACCCGCCCCTGCGCCCTCAG | CA1345107 | KISS1 | c.*9_*10insGGCGGGTCTGAGGGCGCAGG (n.*9_*10insGGCGGGTCTGAGGGCGCAGG) c.422_423insGGCGGGTCTGAGGGCGCAGG | dbSNP ExAC |
1 | g.204190475_204190495delinsCCTGCGCCCTCAGCCCCGCCC | CA1148286669 | KISS1 | c.406_*9delinsGGGCGGGGCTGAGGGCGCAGG (n.[c.406_*9delinsGGGCGGGGCTGAGGGCGCAGG;Gly136=]) c.406_422delinsGGGCGGGGCTGAGGGCGCAGG | |
1 | g.204190476_204190495dup | CA1345106 | KISS1 | c.407_*9dup (n.407_*9dup) c.407_422dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204190476C>A | CA344346349 | KISS1 | c.*8G>T (n.*8G>T) c.421G>T (p.Gly141Cys) | gnomAD v4 |
1 | g.204190476C= | CA2482070169 | KISS1 | c.*8G= (n.*8G=) c.421G= (p.Gly141=) | |
1 | g.204190476C>G | CA344346347 | KISS1 | c.*8G>C (n.*8G>C) c.421G>C (p.Gly141Arg) | dbSNP gnomAD v2 |
1 | g.204190476C>T | CA344346348 | KISS1 | c.*8G>A (n.*8G>A) c.421G>A (p.Gly141Ser) | gnomAD v4 |
1 | g.204190477T>A | CA2747426758 | KISS1 | c.*7A>T (n.*7A>T) c.420A>T (p.Ala140=) | |
1 | g.204190477T>C | CA2650015084 | KISS1 | c.*7A>G (n.*7A>G) c.420A>G (p.Ala140=) | gnomAD v4 |
1 | g.204190478G>A | CA344346350 | KISS1 | c.*6C>T (n.*6C>T) c.419C>T (p.Ala140Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190478G>C | CA344346351 | KISS1 | c.*6C>G (n.*6C>G) c.419C>G (p.Ala140Gly) | |
1 | g.204190478G= | CA2482070170 | KISS1 | c.*6C= (n.*6C=) c.419C= (p.Ala140=) | |
1 | g.204190478G>T | CA344346352 | KISS1 | c.*6C>A (n.*6C>A) c.419C>A (p.Ala140Glu) | gnomAD v4 |
1 | g.204190479C>A | CA344346353 | KISS1 | c.*5G>T (n.*5G>T) c.418G>T (p.Ala140Ser) | gnomAD v4 |
1 | g.204190479C>G | CA344346354 | KISS1 | c.*5G>C (n.*5G>C) c.418G>C (p.Ala140Pro) | |
1 | g.204190479C>T | CA344346355 | KISS1 | c.*5G>A (n.*5G>A) c.418G>A (p.Ala140Thr) | gnomAD v4 |
1 | g.204190480G>A | CA2650015085 | KISS1 | c.*4C>T (n.*4C>T) c.417C>T (p.Gly139=) | gnomAD v4 |
1 | g.204190480G>T | CA2650015086 | KISS1 | c.*4C>A (n.*4C>A) c.417C>A (p.Gly139=) | gnomAD v4 |
1 | g.204190480_204190481delinsGC | CA2482070171 | KISS1 | c.*3_*4delinsGC (n.*3_*4delinsGC) c.416_417delinsGC (p.Gly139=) | |
1 | g.204190481C>A | CA344346356 | KISS1 | c.*3G>T (n.*3G>T) c.416G>T (p.Gly139Val) | gnomAD v4 |
1 | g.204190481C= | CA2482070172 | KISS1 | c.*3G= (n.*3G=) c.416G= (p.Gly139=) | |
1 | g.204190481C>G | CA344346357 | KISS1 | c.*3G>C (n.*3G>C) c.416G>C (p.Gly139Ala) | |
1 | g.204190481C>T | CA344346358 | KISS1 | c.*3G>A (n.*3G>A) c.416G>A (p.Gly139Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190483del | CA528532132 | KISS1 | c.*3del (n.*3del) c.416del | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190482C>A | CA344346361 | KISS1 | c.*2G>T (n.*2G>T) c.415G>T (p.Gly139Cys) | gnomAD v4 |
1 | g.204190482C= | CA2482070173 | KISS1 | c.*2G= (n.*2G=) c.415G= (p.Gly139=) | |
1 | g.204190482C>G | CA344346360 | KISS1 | c.*2G>C (n.*2G>C) c.415G>C (p.Gly139Arg) | |
1 | g.204190482C>T | CA344346359 | KISS1 | c.*2G>A (n.*2G>A) c.415G>A (p.Gly139Ser) | dbSNP gnomAD v4 |
1 | g.204190483C>A | CA344346362 | KISS1 | c.*1G>T (n.*1G>T) c.415-1G>T (n.415-1G>T) | gnomAD v4 |
1 | g.204190483C= | CA2482070175 | KISS1 | c.*1G= (n.*1G=) c.415-1G= (n.415-1G=) | |
1 | g.204190483C>G | CA344346363 | KISS1 | c.*1G>C (n.*1G>C) c.415-1G>C (n.415-1G>C) | |
1 | g.204190483C>T | CA35752129 | KISS1 | c.*1G>A (n.*1G>A) c.415-1G>A (n.415-1G>A) | dbSNP gnomAD v4 |
1 | g.204190483_204190484delinsCT | CA2482070174 | KISS1 | c.417_*1delinsAG (n.[c.417_*1delinsAG;Ter139=]) c.415-2_415-1delinsAG (n.415-2_415-1delinsAG) | |
1 | g.204190484_204190485del | CA2650015087 | KISS1 | c.417_*1del (n.[c.417_*1del;Ter139TrpextTer27]) c.415-2_415-1del (n.415-2_415-1del) | gnomAD v4 |
1 | g.204190484del | CA1345108 | KISS1 | c.417del (p.Ter139TrpextTer8) c.415-2del (n.415-2del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204190484T>A | CA344346364 | KISS1 | c.417A>T (p.Ter139Cys) c.415-2A>T (n.415-2A>T) | gnomAD v4 |
1 | g.204190484T>C | CA344346365 | KISS1 | c.417A>G (p.Ter139Trp) c.415-2A>G (n.415-2A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204190484T>G | CA344346366 | KISS1 | c.417A>C (p.Ter139Cys) c.415-2A>C (n.415-2A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190484T= | CA1140799152 | KISS1 | c.417A= (p.Ter139=) c.415-2A= (n.415-2A=) | |
1 | g.204190485del | CA344346369 | KISS1 | c.416del (p.Ter139=) c.415-3del (n.415-3del) | |
1 | g.204190485C>A | CA344346367 | KISS1 | c.416G>T (p.Ter139Leu) c.415-3G>T (n.415-3G>T) | gnomAD v4 |
1 | g.204190485C= | CA1146965739 | KISS1 | c.416G= (p.Ter139=) c.415-3G= (n.415-3G=) | |
1 | g.204190485C>G | CA1345109 | KISS1 | c.416G>C (p.Ter139Ser) c.415-3G>C (n.415-3G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190485C>T | CA344346368 | KISS1 | c.416G>A (p.Ter139=) c.415-3G>A (n.415-3G>A) | dbSNP gnomAD v2 |
1 | g.204190486A>C | CA344346372 | KISS1 | c.415T>G (p.Ter139Gly) c.414+1T>G (n.414+1T>G) | |
1 | g.204190486A>G | CA344346371 | KISS1 | c.415T>C (p.Ter139Arg) c.414+1T>C (n.414+1T>C) | gnomAD v4 |
1 | g.204190486A>T | CA344346370 | KISS1 | c.415T>A (p.Ter139Arg) c.414+1T>A (n.414+1T>A) | gnomAD v4 |
1 | g.204190487del | CA2747426759 | KISS1 | c.414del (p.Ter139GluextTer8) c.414del (p.Gly139AlafsTer?) | |
1 | g.204190487G>A | CA423119288 | KISS1 | c.414C>T (p.Gly138=) | gnomAD v4 |
1 | g.204190487G>C | CA423119289 | KISS1 | c.414C>G (p.Gly138=) | |
1 | g.204190487G>T | CA423119287 | KISS1 | c.414C>A (p.Gly138=) | gnomAD v4 |
1 | g.204190488C>A | CA344346373 | KISS1 | c.413G>T (p.Gly138Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190488C= | CA1148290302 | KISS1 | c.413G= (p.Gly138=) | |
1 | g.204190488C>G | CA1345110 | KISS1 | c.413G>C (p.Gly138Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190488C>T | CA344346374 | KISS1 | c.413G>A (p.Gly138Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190491del | CA2650015088 | KISS1 | c.413del (p.Gly138AlafsTer9) c.413del (p.Gly138AlafsTer?) | gnomAD v4 |
1 | g.204190489C>A | CA344346375 | KISS1 | c.412G>T (p.Gly138Cys) | gnomAD v4 |
1 | g.204190489C= | CA2482070176 | KISS1 | c.412G= (p.Gly138=) | |
1 | g.204190489C>G | CA344346376 | KISS1 | c.412G>C (p.Gly138Arg) | |
1 | g.204190489C>T | CA344346377 | KISS1 | c.412G>A (p.Gly138Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190490C>A | CA423119290 | KISS1 | c.411G>T (p.Arg137=) | gnomAD v4 |
1 | g.204190490C= | CA2482070177 | KISS1 | c.411G= (p.Arg137=) | |
1 | g.204190490C>G | CA423119291 | KISS1 | c.411G>C (p.Arg137=) | |
1 | g.204190490C>T | CA423119292 | KISS1 | c.411G>A (p.Arg137=) | dbSNP gnomAD v2 |
1 | g.204190491C>A | CA344346378 | KISS1 | c.410G>T (p.Arg137Leu) | gnomAD v4 |
1 | g.204190491C= | CA2482070178 | KISS1 | c.410G= (p.Arg137=) | |
1 | g.204190491C>G | CA344346379 | KISS1 | c.410G>C (p.Arg137Pro) | |
1 | g.204190491C>T | CA1345111 | KISS1 | c.410G>A (p.Arg137Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190492G>A | CA344346380 | KISS1 | c.409C>T (p.Arg137Trp) | gnomAD v4 |
1 | g.204190492G>C | CA344346381 | KISS1 | c.409C>G (p.Arg137Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190492G= | CA2482070179 | KISS1 | c.409C= (p.Arg137=) | |
1 | g.204190492G>T | CA423119293 | KISS1 | c.409C>A (p.Arg137=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190493C>A | CA423119294 | KISS1 | c.408G>T (p.Gly136=) | gnomAD v4 |
1 | g.204190493C>G | CA423119295 | KISS1 | c.408G>C (p.Gly136=) | |
1 | g.204190493C>T | CA423119296 | KISS1 | c.408G>A (p.Gly136=) | |
1 | g.204190495_204190496insCTGCGCCCTCAGCCCCACCC | CA528532133 | KISS1 | c.408_409insTGGGGCTGAGGGCGCAGGGG (p.Arg137TrpfsTer3) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190494C>A | CA344346384 | KISS1 | c.407G>T (p.Gly136Val) | gnomAD v4 |
1 | g.204190494C= | CA2482070180 | KISS1 | c.407G= (p.Gly136=) | |
1 | g.204190494C>G | CA344346383 | KISS1 | c.407G>C (p.Gly136Ala) | |
1 | g.204190494C>T | CA344346382 | KISS1 | c.407G>A (p.Gly136Glu) | dbSNP gnomAD v4 |
1 | g.204190495C>A | CA344346385 | KISS1 | c.406G>T (p.Gly136Trp) | gnomAD v4 |
1 | g.204190495C= | CA2482070181 | KISS1 | c.406G= (p.Gly136=) | |
1 | g.204190495C>G | CA344346386 | KISS1 | c.406G>C (p.Gly136Arg) | gnomAD v4 |
1 | g.204190495C>T | CA344346387 | KISS1 | c.406G>A (p.Gly136Arg) | dbSNP gnomAD v4 |
1 | g.204190496A>C | CA423119297 | KISS1 | c.405T>G (p.Ala135=) | |
1 | g.204190496A>G | CA423119298 | KISS1 | c.405T>C (p.Ala135=) | |
1 | g.204190496A>T | CA423119299 | KISS1 | c.405T>A (p.Ala135=) | |
1 | g.204190497G>A | CA344346388 | KISS1 | c.404C>T (p.Ala135Val) | |
1 | g.204190497G>C | CA344346389 | KISS1 | c.404C>G (p.Ala135Gly) | |
1 | g.204190497G>T | CA344346390 | KISS1 | c.404C>A (p.Ala135Asp) | gnomAD v4 |
1 | g.204190498C>A | CA1345112 | KISS1 | c.403G>T (p.Ala135Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190498C= | CA2482070182 | KISS1 | c.403G= (p.Ala135=) | |
1 | g.204190498C>G | CA344346391 | KISS1 | c.403G>C (p.Ala135Pro) | |
1 | g.204190498C>T | CA344346392 | KISS1 | c.403G>A (p.Ala135Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190499G>A | CA423119300 | KISS1 | c.402C>T (p.Ser134=) | gnomAD v4 |
1 | g.204190499G>C | CA35752137 | KISS1 | c.402C>G (p.Ser134Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190499G= | CA1143713487 | KISS1 | c.402C= (p.Ser134=) | |
1 | g.204190499G>T | CA344346393 | KISS1 | c.402C>A (p.Ser134Arg) | gnomAD v4 |
1 | g.204190500C>A | CA344346395 | KISS1 | c.401G>T (p.Ser134Ile) | |
1 | g.204190500C= | CA2482070183 | KISS1 | c.401G= (p.Ser134=) | |
1 | g.204190500C>G | CA35752140 | KISS1 | c.401G>C (p.Ser134Thr) | dbSNP |
1 | g.204190500C>T | CA344346394 | KISS1 | c.401G>A (p.Ser134Asn) | dbSNP gnomAD v2 |
1 | g.204190501T>A | CA344346396 | KISS1 | c.400A>T (p.Ser134Cys) | gnomAD v4 |
1 | g.204190501T>C | CA344346397 | KISS1 | c.400A>G (p.Ser134Gly) | |
1 | g.204190501T>G | CA344346398 | KISS1 | c.400A>C (p.Ser134Arg) | |
1 | g.204190502T>A | CA344346399 | KISS1 | c.399A>T (p.Arg133Ser) | |
1 | g.204190502T>C | CA423119301 | KISS1 | c.399A>G (p.Arg133=) | gnomAD v4 |
1 | g.204190502T>G | CA344346400 | KISS1 | c.399A>C (p.Arg133Ser) | |
1 | g.204190503C>A | CA344346403 | KISS1 | c.398G>T (p.Arg133Ile) | gnomAD v4 |
1 | g.204190503C>G | CA344346402 | KISS1 | c.398G>C (p.Arg133Thr) | |
1 | g.204190503C>T | CA344346401 | KISS1 | c.398G>A (p.Arg133Lys) | |
1 | g.204190504T>A | CA344346404 | KISS1 | c.397A>T (p.Arg133Ter) | |
1 | g.204190504T>C | CA344346405 | KISS1 | c.397A>G (p.Arg133Gly) | dbSNP |
1 | g.204190504T>G | CA423119302 | KISS1 | c.397A>C (p.Arg133=) | dbSNP |
1 | g.204190504T= | CA2482070184 | KISS1 | c.397A= (p.Arg133=) | |
1 | g.204190505G>A | CA1345113 | KISS1 | c.396C>T (p.Gly132=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190505G>C | CA423119303 | KISS1 | c.396C>G (p.Gly132=) | |
1 | g.204190505G= | CA1149135745 | KISS1 | c.396C= (p.Gly132=) | |
1 | g.204190505G>T | CA423119304 | KISS1 | c.396C>A (p.Gly132=) | gnomAD v4 |
1 | g.204190505_204190506delinsGC | CA2482070185 | KISS1 | c.395_396delinsGC (p.Gly132=) | |
1 | g.204190506C>A | CA344346406 | KISS1 | c.395G>T (p.Gly132Val) | gnomAD v4 |
1 | g.204190506C= | CA2482070187 | KISS1 | c.395G= (p.Gly132=) | |
1 | g.204190506C>G | CA344346407 | KISS1 | c.395G>C (p.Gly132Ala) | |
1 | g.204190506C>T | CA344346408 | KISS1 | c.395G>A (p.Gly132Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190507del | CA2482070186 | KISS1 | c.395del (p.Gly132AlafsTer15) c.395del (p.Gly132AlafsTer?) | dbSNP gnomAD v4 |
1 | g.204190507C>A | CA35752142 | KISS1 | c.394G>T (p.Gly132Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190507C= | CA2482070188 | KISS1 | c.394G= (p.Gly132=) | |
1 | g.204190507C>G | CA344346409 | KISS1 | c.394G>C (p.Gly132Arg) | dbSNP gnomAD v4 |
1 | g.204190507C>T | CA344346410 | KISS1 | c.394G>A (p.Gly132Ser) | dbSNP gnomAD v4 |
1 | g.204190508G>A | CA1345114 | KISS1 | c.393C>T (p.His131=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190508G>C | CA344346411 | KISS1 | c.393C>G (p.His131Gln) | gnomAD v4 |
1 | g.204190508G= | CA2482070189 | KISS1 | c.393C= (p.His131=) | |
1 | g.204190508G>T | CA344346412 | KISS1 | c.393C>A (p.His131Gln) | gnomAD v4 |
1 | g.204190509T>A | CA344346413 | KISS1 | c.392A>T (p.His131Leu) | gnomAD v3 gnomAD v4 |
1 | g.204190509T>C | CA344346414 | KISS1 | c.392A>G (p.His131Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190509T>G | CA344346415 | KISS1 | c.392A>C (p.His131Pro) | |
1 | g.204190509T= | CA2482070190 | KISS1 | c.392A= (p.His131=) | |
1 | g.204190510G>A | CA344346416 | KISS1 | c.391C>T (p.His131Tyr) | |
1 | g.204190510G>C | CA344346417 | KISS1 | c.391C>G (p.His131Asp) | |
1 | g.204190510G>T | CA344346418 | KISS1 | c.391C>A (p.His131Asn) | gnomAD v4 |
1 | g.204190511G>A | CA1345115 | KISS1 | c.390C>T (p.Asn130=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190511G>C | CA344346419 | KISS1 | c.390C>G (p.Asn130Lys) | |
1 | g.204190511G= | CA2482070191 | KISS1 | c.390C= (p.Asn130=) | |
1 | g.204190511G>T | CA344346420 | KISS1 | c.390C>A (p.Asn130Lys) | gnomAD v4 |
1 | g.204190512T>A | CA344346421 | KISS1 | c.389A>T (p.Asn130Ile) | |
1 | g.204190512T>C | CA344346423 | KISS1 | c.389A>G (p.Asn130Ser) | |
1 | g.204190512T>G | CA344346422 | KISS1 | c.389A>C (p.Asn130Thr) | |
1 | g.204190513T>A | CA344346424 | KISS1 | c.388A>T (p.Asn130Tyr) | |
1 | g.204190513T>C | CA344346425 | KISS1 | c.388A>G (p.Asn130Asp) | gnomAD v4 |
1 | g.204190513T>G | CA344346426 | KISS1 | c.388A>C (p.Asn130His) | |
1 | g.204190514C>A | CA423119305 | KISS1 | c.387G>T (p.Gly129=) | gnomAD v4 |
1 | g.204190514C>G | CA423119307 | KISS1 | c.387G>C (p.Gly129=) | |
1 | g.204190514C>T | CA423119306 | KISS1 | c.387G>A (p.Gly129=) | |
1 | g.204190516del | CA2522799938 | KISS1 | c.387del (p.Asn130ThrfsTer17) c.387del (p.Asn130ThrfsTer?) | |
1 | g.204190515C>A | CA344346427 | KISS1 | c.386G>T (p.Gly129Val) | gnomAD v4 |
1 | g.204190515C>G | CA344346428 | KISS1 | c.386G>C (p.Gly129Ala) | |
1 | g.204190515C>T | CA344346429 | KISS1 | c.386G>A (p.Gly129Glu) | gnomAD v4 COSMIC |
1 | g.204190516C>A | CA344346430 | KISS1 | c.385G>T (p.Gly129Trp) | gnomAD v4 |
1 | g.204190516C= | CA2482070192 | KISS1 | c.385G= (p.Gly129=) | |
1 | g.204190516C>G | CA344346431 | KISS1 | c.385G>C (p.Gly129Arg) | |
1 | g.204190516C>T | CA344346432 | KISS1 | c.385G>A (p.Gly129Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190517T>A | CA423119308 | KISS1 | c.384A>T (p.Pro128=) | |
1 | g.204190517T>C | CA35752146 | KISS1 | c.384A>G (p.Pro128=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190517T>G | CA423119309 | KISS1 | c.384A>C (p.Pro128=) | dbSNP |
1 | g.204190517T= | CA2482070193 | KISS1 | c.384A= (p.Pro128=) | |
1 | g.204190518G>A | CA344346433 | KISS1 | c.383C>T (p.Pro128Leu) | gnomAD v4 |
1 | g.204190518G>C | CA344346434 | KISS1 | c.383C>G (p.Pro128Arg) | |
1 | g.204190518G>T | CA344346435 | KISS1 | c.383C>A (p.Pro128Gln) | gnomAD v4 |
1 | g.204190519G>A | CA344346437 | KISS1 | c.382C>T (p.Pro128Ser) | |
1 | g.204190519G>C | CA1345116 | KISS1 | c.382C>G (p.Pro128Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190519G= | CA1148473124 | KISS1 | c.382C= (p.Pro128=) | |
1 | g.204190519G>T | CA344346436 | KISS1 | c.382C>A (p.Pro128Thr) | gnomAD v4 |
1 | g.204190520T>A | CA423119313 | KISS1 | c.381A>T (p.Ala127=) | |
1 | g.204190520T>C | CA423119314 | KISS1 | c.381A>G (p.Ala127=) | |
1 | g.204190520T>G | CA423119315 | KISS1 | c.381A>C (p.Ala127=) | |
1 | g.204190520dup | CA2573986373 | KISS1 | c.381dup (p.Pro128ThrfsTer?) | |
1 | g.204190521G>A | CA344346438 | KISS1 | c.380C>T (p.Ala127Val) | gnomAD v4 |
1 | g.204190521G>C | CA344346439 | KISS1 | c.380C>G (p.Ala127Gly) | |
1 | g.204190521G>T | CA344346440 | KISS1 | c.380C>A (p.Ala127Glu) | gnomAD v4 |
1 | g.204190522C>A | CA344346441 | KISS1 | c.379G>T (p.Ala127Ser) | |
1 | g.204190522C>G | CA344346442 | KISS1 | c.379G>C (p.Ala127Pro) | |
1 | g.204190522C>T | CA344346443 | KISS1 | c.379G>A (p.Ala127Thr) | gnomAD v4 |
1 | g.204190523C>A | CA423119317 | KISS1 | c.378G>T (p.Ala126=) | gnomAD v4 |
1 | g.204190523C>G | CA423119318 | KISS1 | c.378G>C (p.Ala126=) | gnomAD v4 |
1 | g.204190523C>T | CA423119319 | KISS1 | c.378G>A (p.Ala126=) | gnomAD v4 |
1 | g.204190524G>A | CA344346444 | KISS1 | c.377C>T (p.Ala126Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190524G>C | CA344346445 | KISS1 | c.377C>G (p.Ala126Gly) | |
1 | g.204190524G= | CA2482070194 | KISS1 | c.377C= (p.Ala126=) | |
1 | g.204190524G>T | CA344346446 | KISS1 | c.377C>A (p.Ala126Glu) | gnomAD v4 |
1 | g.204190525C>A | CA344346447 | KISS1 | c.376G>T (p.Ala126Ser) | |
1 | g.204190525C>G | CA344346448 | KISS1 | c.376G>C (p.Ala126Pro) | |
1 | g.204190525C>T | CA344346449 | KISS1 | c.376G>A (p.Ala126Thr) | |
1 | g.204190526C>A | CA344346451 | KISS1 | c.375G>T (p.Glu125Asp) | |
1 | g.204190526C= | CA2482070195 | KISS1 | c.375G= (p.Glu125=) | |
1 | g.204190526C>G | CA344346450 | KISS1 | c.375G>C (p.Glu125Asp) | |
1 | g.204190526C>T | CA35752150 | KISS1 | c.375G>A (p.Glu125=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190527T>A | CA344346452 | KISS1 | c.374A>T (p.Glu125Val) | |
1 | g.204190527T>C | CA344346453 | KISS1 | c.374A>G (p.Glu125Gly) | gnomAD v4 |
1 | g.204190527T>G | CA344346454 | KISS1 | c.374A>C (p.Glu125Ala) | |
1 | g.204190528C>A | CA344346455 | KISS1 | c.373G>T (p.Glu125Ter) | |
1 | g.204190528C= | CA2482070196 | KISS1 | c.373G= (p.Glu125=) | |
1 | g.204190528C>G | CA344346456 | KISS1 | c.373G>C (p.Glu125Gln) | |
1 | g.204190528C>T | CA1345117 | KISS1 | c.373G>A (p.Glu125Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190530del | CA2650015089 | KISS1 | c.373del (p.Glu125ArgfsTer22) c.373del (p.Glu125ArgfsTer?) | gnomAD v4 |
1 | g.204190529C>A | CA423119324 | KISS1 | c.372G>T (p.Arg124=) | gnomAD v4 |
1 | g.204190529C>G | CA423119323 | KISS1 | c.372G>C (p.Arg124=) | gnomAD v4 |
1 | g.204190529C>T | CA423119322 | KISS1 | c.372G>A (p.Arg124=) |