Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31567340_31567345del | CA1028968836 | SRD5A2 | c.281+13282_281+13287del (n.281+13282_281+13287del) c.27-33572_27-33567del (n.27-33572_27-33567del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567344T>C | CA45140556 | SRD5A2 | c.281+13276A>G (n.281+13276A>G) c.27-33578A>G (n.27-33578A>G) | dbSNP |
2 | g.31567344T= | CA1242214568 | SRD5A2 | c.281+13276A= (n.281+13276A=) c.27-33578A= (n.27-33578A=) | |
2 | g.31567346A= | CA1242214569 | SRD5A2 | c.281+13274T= (n.281+13274T=) c.27-33580T= (n.27-33580T=) | |
2 | g.31567352dup | CA1242214570 | SRD5A2 | c.281+13273dup (n.281+13273dup) c.27-33581dup (n.27-33581dup) | dbSNP |
2 | g.31567353C>A | CA2554438560 | SRD5A2 | c.281+13267G>T (n.281+13267G>T) c.27-33587G>T (n.27-33587G>T) | |
2 | g.31567357G>A | CA1242214572 | SRD5A2 | c.281+13263C>T (n.281+13263C>T) c.27-33591C>T (n.27-33591C>T) | dbSNP |
2 | g.31567357G= | CA1242214571 | SRD5A2 | c.281+13263C= (n.281+13263C=) c.27-33591C= (n.27-33591C=) | |
2 | g.31567358G>A | CA45140557 | SRD5A2 | c.281+13262C>T (n.281+13262C>T) c.27-33592C>T (n.27-33592C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567358G= | CA1242214573 | SRD5A2 | c.281+13262C= (n.281+13262C=) c.27-33592C= (n.27-33592C=) | |
2 | g.31567361T>G | CA45140558 | SRD5A2 | c.281+13259A>C (n.281+13259A>C) c.27-33595A>C (n.27-33595A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567361T= | CA1242214574 | SRD5A2 | c.281+13259A= (n.281+13259A=) c.27-33595A= (n.27-33595A=) | |
2 | g.31567362A>T | CA2749375796 | SRD5A2 | c.281+13258T>A (n.281+13258T>A) c.27-33596T>A (n.27-33596T>A) | |
2 | g.31567367G>C | CA531720423 | SRD5A2 | c.281+13253C>G (n.281+13253C>G) c.27-33601C>G (n.27-33601C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567367G= | CA1242214575 | SRD5A2 | c.281+13253C= (n.281+13253C=) c.27-33601C= (n.27-33601C=) | |
2 | g.31567369_31567372delinsTTTC | CA1242214576 | SRD5A2 | c.281+13248_281+13251delinsGAAA (n.281+13248_281+13251delinsGAAA) c.27-33606_27-33603delinsGAAA (n.27-33606_27-33603delinsGAAA) | |
2 | g.31567372_31567374del | CA45140559 | SRD5A2 | c.281+13248_281+13250del (n.281+13248_281+13250del) c.27-33606_27-33604del (n.27-33606_27-33604del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567374T>G | CA1242214577 | SRD5A2 | c.281+13246A>C (n.281+13246A>C) c.27-33608A>C (n.27-33608A>C) | dbSNP |
2 | g.31567374T= | CA1242214578 | SRD5A2 | c.281+13246A= (n.281+13246A=) c.27-33608A= (n.27-33608A=) | |
2 | g.31567376T>C | CA1242214580 | SRD5A2 | c.281+13244A>G (n.281+13244A>G) c.27-33610A>G (n.27-33610A>G) | dbSNP |
2 | g.31567376T= | CA1242214579 | SRD5A2 | c.281+13244A= (n.281+13244A=) c.27-33610A= (n.27-33610A=) | |
2 | g.31567380T>A | CA1028968856 | SRD5A2 | c.281+13240A>T (n.281+13240A>T) c.27-33614A>T (n.27-33614A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567380T= | CA1242214581 | SRD5A2 | c.281+13240A= (n.281+13240A=) c.27-33614A= (n.27-33614A=) | |
2 | g.31567381A= | CA1242214582 | SRD5A2 | c.281+13239T= (n.281+13239T=) c.27-33615T= (n.27-33615T=) | |
2 | g.31567381A>G | CA1242214583 | SRD5A2 | c.281+13239T>C (n.281+13239T>C) c.27-33615T>C (n.27-33615T>C) | dbSNP |
2 | g.31567382T>C | CA531720425 | SRD5A2 | c.281+13238A>G (n.281+13238A>G) c.27-33616A>G (n.27-33616A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567382T= | CA1242214584 | SRD5A2 | c.281+13238A= (n.281+13238A=) c.27-33616A= (n.27-33616A=) | |
2 | g.31567387G>A | CA1028968857 | SRD5A2 | c.281+13233C>T (n.281+13233C>T) c.27-33621C>T (n.27-33621C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567387G>C | CA1028968860 | SRD5A2 | c.281+13233C>G (n.281+13233C>G) c.27-33621C>G (n.27-33621C>G) | gnomAD v3 gnomAD v4 |
2 | g.31567387G= | CA1242214585 | SRD5A2 | c.281+13233C= (n.281+13233C=) c.27-33621C= (n.27-33621C=) | |
2 | g.31567389A= | CA1242214586 | SRD5A2 | c.281+13231T= (n.281+13231T=) c.27-33623T= (n.27-33623T=) | |
2 | g.31567389A>C | CA1242214587 | SRD5A2 | c.281+13231T>G (n.281+13231T>G) c.27-33623T>G (n.27-33623T>G) | dbSNP |
2 | g.31567389A>G | CA1028968865 | SRD5A2 | c.281+13231T>C (n.281+13231T>C) c.27-33623T>C (n.27-33623T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567391A= | CA1242214588 | SRD5A2 | c.281+13229T= (n.281+13229T=) c.27-33625T= (n.27-33625T=) | |
2 | g.31567391A>G | CA1242214589 | SRD5A2 | c.281+13229T>C (n.281+13229T>C) c.27-33625T>C (n.27-33625T>C) | dbSNP |
2 | g.31567392T>C | CA767779124 | SRD5A2 | c.281+13228A>G (n.281+13228A>G) c.27-33626A>G (n.27-33626A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567392T= | CA1242214590 | SRD5A2 | c.281+13228A= (n.281+13228A=) c.27-33626A= (n.27-33626A=) | |
2 | g.31567403T>A | CA45140560 | SRD5A2 | c.281+13217A>T (n.281+13217A>T) c.27-33637A>T (n.27-33637A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567403T= | CA1242214591 | SRD5A2 | c.281+13217A= (n.281+13217A=) c.27-33637A= (n.27-33637A=) | |
2 | g.31567409G>A | CA531720427 | SRD5A2 | c.281+13211C>T (n.281+13211C>T) c.27-33643C>T (n.27-33643C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567409G= | CA1242214592 | SRD5A2 | c.281+13211C= (n.281+13211C=) c.27-33643C= (n.27-33643C=) | |
2 | g.31567410A= | CA1242214593 | SRD5A2 | c.281+13210T= (n.281+13210T=) c.27-33644T= (n.27-33644T=) | |
2 | g.31567410A>C | CA45140561 | SRD5A2 | c.281+13210T>G (n.281+13210T>G) c.27-33644T>G (n.27-33644T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567413C>A | CA45140562 | SRD5A2 | c.281+13207G>T (n.281+13207G>T) c.27-33647G>T (n.27-33647G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567413C= | CA1242214594 | SRD5A2 | c.281+13207G= (n.281+13207G=) c.27-33647G= (n.27-33647G=) | |
2 | g.31567413C>T | CA2749375797 | SRD5A2 | c.281+13207G>A (n.281+13207G>A) c.27-33647G>A (n.27-33647G>A) | |
2 | g.31567419A= | CA1242214595 | SRD5A2 | c.281+13201T= (n.281+13201T=) c.27-33653T= (n.27-33653T=) | |
2 | g.31567419A>G | CA1242214596 | SRD5A2 | c.281+13201T>C (n.281+13201T>C) c.27-33653T>C (n.27-33653T>C) | dbSNP |
2 | g.31567424G>A | CA767779130 | SRD5A2 | c.281+13196C>T (n.281+13196C>T) c.27-33658C>T (n.27-33658C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567424G= | CA1242214597 | SRD5A2 | c.281+13196C= (n.281+13196C=) c.27-33658C= (n.27-33658C=) | |
2 | g.31567426G>A | CA767779134 | SRD5A2 | c.281+13194C>T (n.281+13194C>T) c.27-33660C>T (n.27-33660C>T) | dbSNP |
2 | g.31567426G= | CA1242214598 | SRD5A2 | c.281+13194C= (n.281+13194C=) c.27-33660C= (n.27-33660C=) | |
2 | g.31567429A>G | CA2515305135 | SRD5A2 | c.281+13191T>C (n.281+13191T>C) c.27-33663T>C (n.27-33663T>C) | |
2 | g.31567431T>A | CA1242214601 | SRD5A2 | c.281+13189A>T (n.281+13189A>T) c.27-33665A>T (n.27-33665A>T) | dbSNP |
2 | g.31567431T>C | CA1242214600 | SRD5A2 | c.281+13189A>G (n.281+13189A>G) c.27-33665A>G (n.27-33665A>G) | dbSNP |
2 | g.31567431T= | CA1242214599 | SRD5A2 | c.281+13189A= (n.281+13189A=) c.27-33665A= (n.27-33665A=) | |
2 | g.31567432_31567433delinsTG | CA1242214602 | SRD5A2 | c.281+13187_281+13188delinsCA (n.281+13187_281+13188delinsCA) c.27-33667_27-33666delinsCA (n.27-33667_27-33666delinsCA) | |
2 | g.31567433G= | CA1242214605 | SRD5A2 | c.281+13187C= (n.281+13187C=) c.27-33667C= (n.27-33667C=) | |
2 | g.31567433G>T | CA1028968873 | SRD5A2 | c.281+13187C>A (n.281+13187C>A) c.27-33667C>A (n.27-33667C>A) | gnomAD v3 gnomAD v4 |
2 | g.31567434del | CA1242214603 | SRD5A2 | c.281+13187del (n.281+13187del) c.27-33667del (n.27-33667del) | dbSNP |
2 | g.31567433_31567445delinsGGTGTGTGTGTGT | CA1242214604 | SRD5A2 | c.281+13175_281+13187delinsACACACACACACC (n.281+13175_281+13187delinsACACACACACACC) c.27-33679_27-33667delinsACACACACACACC (n.27-33679_27-33667delinsACACACACACACC) | |
2 | g.31567433_31567434insT | CA767779162 | SRD5A2 | c.281+13186_281+13187insA (n.281+13186_281+13187insA) c.27-33668_27-33667insA (n.27-33668_27-33667insA) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567434G>C | CA767779154 | SRD5A2 | c.281+13186C>G (n.281+13186C>G) c.27-33668C>G (n.27-33668C>G) | dbSNP |
2 | g.31567434G= | CA1242214607 | SRD5A2 | c.281+13186C= (n.281+13186C=) c.27-33668C= (n.27-33668C=) | |
2 | g.31567456_31567457dup | CA45140563 | SRD5A2 | c.281+13185_281+13186dup (n.281+13185_281+13186dup) c.27-33669_27-33668dup (n.27-33669_27-33668dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567454_31567457dup | CA531720436 | SRD5A2 | c.281+13183_281+13186dup (n.281+13183_281+13186dup) c.27-33671_27-33668dup (n.27-33671_27-33668dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567452_31567457dup | CA767779166 | SRD5A2 | c.281+13181_281+13186dup (n.281+13181_281+13186dup) c.27-33673_27-33668dup (n.27-33673_27-33668dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567450_31567457dup | CA45140564 | SRD5A2 | c.281+13179_281+13186dup (n.281+13179_281+13186dup) c.27-33675_27-33668dup (n.27-33675_27-33668dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567448_31567457dup | CA531720439 | SRD5A2 | c.281+13177_281+13186dup (n.281+13177_281+13186dup) c.27-33677_27-33668dup (n.27-33677_27-33668dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567446_31567457dup | CA767779167 | SRD5A2 | c.281+13175_281+13186dup (n.281+13175_281+13186dup) c.27-33679_27-33668dup (n.27-33679_27-33668dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567456_31567457del | CA45140565 | SRD5A2 | c.281+13185_281+13186del (n.281+13185_281+13186del) c.27-33669_27-33668del (n.27-33669_27-33668del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567454_31567457del | CA531720429 | SRD5A2 | c.281+13183_281+13186del (n.281+13183_281+13186del) c.27-33671_27-33668del (n.27-33671_27-33668del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31567452_31567457del | CA1028968883 | SRD5A2 | c.281+13181_281+13186del (n.281+13181_281+13186del) c.27-33673_27-33668del (n.27-33673_27-33668del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567450_31567457del | CA1242214606 | SRD5A2 | c.281+13179_281+13186del (n.281+13179_281+13186del) c.27-33675_27-33668del (n.27-33675_27-33668del) | dbSNP |
2 | g.31567446_31567457del | CA767779151 | SRD5A2 | c.281+13175_281+13186del (n.281+13175_281+13186del) c.27-33679_27-33668del (n.27-33679_27-33668del) | dbSNP |
2 | g.31567435T>C | CA1242214609 | SRD5A2 | c.281+13185A>G (n.281+13185A>G) c.27-33669A>G (n.27-33669A>G) | dbSNP |
2 | g.31567435T>G | CA1028968891 | SRD5A2 | c.281+13185A>C (n.281+13185A>C) c.27-33669A>C (n.27-33669A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567435T= | CA1242214608 | SRD5A2 | c.281+13185A= (n.281+13185A=) c.27-33669A= (n.27-33669A=) | |
2 | g.31567438G= | CA1242214610 | SRD5A2 | c.281+13182C= (n.281+13182C=) c.27-33672C= (n.27-33672C=) | |
2 | g.31567439T= | CA1242214611 | SRD5A2 | c.281+13181A= (n.281+13181A=) c.27-33673A= (n.27-33673A=) | |
2 | g.31567439_31567440insAT | CA1028968895 | SRD5A2 | c.281+13181_281+13182insTA (n.281+13181_281+13182insTA) c.27-33673_27-33672insTA (n.27-33673_27-33672insTA) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567447_31567448insCTGTGTGTGT | CA1242214612 | SRD5A2 | c.281+13181_281+13182insGACACACACA (n.281+13181_281+13182insGACACACACA) c.27-33673_27-33672insGACACACACA (n.27-33673_27-33672insGACACACACA) | dbSNP |
2 | g.31567440_31567441insCG | CA1028968896 | SRD5A2 | c.281+13180_281+13181insGC (n.281+13180_281+13181insGC) c.27-33674_27-33673insGC (n.27-33674_27-33673insGC) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31567441T>C | CA1242214614 | SRD5A2 | c.281+13179A>G (n.281+13179A>G) c.27-33675A>G (n.27-33675A>G) | dbSNP |
2 | g.31567441T= | CA1242214613 | SRD5A2 | c.281+13179A= (n.281+13179A=) c.27-33675A= (n.27-33675A=) | |
2 | g.31567442_31567443insAG | CA1028968897 | SRD5A2 | c.281+13178_281+13179insTC (n.281+13178_281+13179insTC) c.27-33676_27-33675insTC (n.27-33676_27-33675insTC) | gnomAD v3 gnomAD v4 |
2 | g.31567443T>A | CA767779172 | SRD5A2 | c.281+13177A>T (n.281+13177A>T) c.27-33677A>T (n.27-33677A>T) | dbSNP |
2 | g.31567443T= | CA1242214615 | SRD5A2 | c.281+13177A= (n.281+13177A=) c.27-33677A= (n.27-33677A=) | |
2 | g.31567444G= | CA1242214617 | SRD5A2 | c.281+13176C= (n.281+13176C=) c.27-33678C= (n.27-33678C=) | |
2 | g.31567444_31567445insAG | CA1242214616 | SRD5A2 | c.281+13176_281+13177insTC (n.281+13176_281+13177insTC) c.27-33678_27-33677insTC (n.27-33678_27-33677insTC) | dbSNP |