| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.45803928_45803945del | CA882762613 | RSPH6A | c.1653+309_1653+326del (n.1653+309_1653+326del) c.861+309_861+326del (n.861+309_861+326del) | dbSNP |
| 19 | g.45803930_45803945delinsTTGCAGTGAGCCGAGA | CA2338614760 | RSPH6A | c.1653+307_1653+322delinsTCTCGGCTCACTGCAA (n.1653+307_1653+322delinsTCTCGGCTCACTGCAA) c.861+307_861+322delinsTCTCGGCTCACTGCAA (n.861+307_861+322delinsTCTCGGCTCACTGCAA) | |
| 19 | g.45803932_45803946del | CA633359329 | RSPH6A | c.1653+307_1653+321del (n.1653+307_1653+321del) c.861+307_861+321del (n.861+307_861+321del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45803945A= | CA2338614767 | RSPH6A | c.1653+307T= (n.1653+307T=) c.861+307T= (n.861+307T=) | |
| 19 | g.45803945A>T | CA882762621 | RSPH6A | c.1653+307T>A (n.1653+307T>A) c.861+307T>A (n.861+307T>A) | dbSNP |
| 19 | g.45803946_45803947delinsTC | CA2338614768 | RSPH6A | c.1653+305_1653+306delinsGA (n.1653+305_1653+306delinsGA) c.861+305_861+306delinsGA (n.861+305_861+306delinsGA) | |
| 19 | g.45803947del | CA633359331 | RSPH6A | c.1653+305del (n.1653+305del) c.861+305del (n.861+305del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45803947C= | CA2338614769 | RSPH6A | c.1653+305G= (n.1653+305G=) c.861+305G= (n.861+305G=) | |
| 19 | g.45803947C>T | CA2338614770 | RSPH6A | c.1653+305G>A (n.1653+305G>A) c.861+305G>A (n.861+305G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803948G>A | CA882762625 | RSPH6A | c.1653+304C>T (n.1653+304C>T) c.861+304C>T (n.861+304C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803948G= | CA2338614771 | RSPH6A | c.1653+304C= (n.1653+304C=) c.861+304C= (n.861+304C=) | |
| 19 | g.45803949T>C | CA882762628 | RSPH6A | c.1653+303A>G (n.1653+303A>G) c.861+303A>G (n.861+303A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803949T= | CA2338614772 | RSPH6A | c.1653+303A= (n.1653+303A=) c.861+303A= (n.861+303A=) | |
| 19 | g.45803950A>G | CA996342649 | RSPH6A | c.1653+302T>C (n.1653+302T>C) c.861+302T>C (n.861+302T>C) | gnomAD v3 gnomAD v4 |
| 19 | g.45803952del | CA996342650 | RSPH6A | c.1653+301del (n.1653+301del) c.861+301del (n.861+301del) | gnomAD v3 gnomAD v4 |
| 19 | g.45803952C>A | CA882762632 | RSPH6A | c.1653+300G>T (n.1653+300G>T) c.861+300G>T (n.861+300G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803952C= | CA2338614773 | RSPH6A | c.1653+300G= (n.1653+300G=) c.861+300G= (n.861+300G=) | |
| 19 | g.45803953A>G | CA996342651 | RSPH6A | c.1653+299T>C (n.1653+299T>C) c.861+299T>C (n.861+299T>C) | gnomAD v3 gnomAD v4 |
| 19 | g.45803955T>A | CA996342652 | RSPH6A | c.1653+297A>T (n.1653+297A>T) c.861+297A>T (n.861+297A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803955T= | CA2338614774 | RSPH6A | c.1653+297A= (n.1653+297A=) c.861+297A= (n.861+297A=) | |
| 19 | g.45803958_45803959insAC | CA2582198547 | RSPH6A | c.1653+293_1653+294insGT (n.1653+293_1653+294insGT) c.861+293_861+294insGT (n.861+293_861+294insGT) | gnomAD v3 gnomAD v4 |
| 19 | g.45803959C>A | CA2540678851 | RSPH6A | c.1653+293G>T (n.1653+293G>T) c.861+293G>T (n.861+293G>T) | |
| 19 | g.45803961C>A | CA308996894 | RSPH6A | c.1653+291G>T (n.1653+291G>T) c.861+291G>T (n.861+291G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803961C= | CA2338614775 | RSPH6A | c.1653+291G= (n.1653+291G=) c.861+291G= (n.861+291G=) | |
| 19 | g.45803961_45803962del | CA2502582256 | RSPH6A | c.1653+290_1653+291del (n.1653+290_1653+291del) c.861+290_861+291del (n.861+290_861+291del) | |
| 19 | g.45803964T>A | CA2814566561 | RSPH6A | c.1653+288A>T (n.1653+288A>T) c.861+288A>T (n.861+288A>T) | |
| 19 | g.45803964T>C | CA633359332 | RSPH6A | c.1653+288A>G (n.1653+288A>G) c.861+288A>G (n.861+288A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45803964T>G | CA996342655 | RSPH6A | c.1653+288A>C (n.1653+288A>C) c.861+288A>C (n.861+288A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803964T= | CA2338614776 | RSPH6A | c.1653+288A= (n.1653+288A=) c.861+288A= (n.861+288A=) | |
| 19 | g.45803965_45803972del | CA2534496627 | RSPH6A | c.1653+280_1653+287del (n.1653+280_1653+287del) c.861+280_861+287del (n.861+280_861+287del) | |
| 19 | g.45803968G>T | CA2814566562 | RSPH6A | c.1653+284C>A (n.1653+284C>A) c.861+284C>A (n.861+284C>A) | |
| 19 | g.45803969G>A | CA996342660 | RSPH6A | c.1653+283C>T (n.1653+283C>T) c.861+283C>T (n.861+283C>T) | gnomAD v3 gnomAD v4 |
| 19 | g.45803970G>A | CA2338614778 | RSPH6A | c.1653+282C>T (n.1653+282C>T) c.861+282C>T (n.861+282C>T) | dbSNP |
| 19 | g.45803970G= | CA2338614777 | RSPH6A | c.1653+282C= (n.1653+282C=) c.861+282C= (n.861+282C=) | |
| 19 | g.45803971T>C | CA996342661 | RSPH6A | c.1653+281A>G (n.1653+281A>G) c.861+281A>G (n.861+281A>G) | gnomAD v3 gnomAD v4 |
| 19 | g.45803971T>G | CA996342662 | RSPH6A | c.1653+281A>C (n.1653+281A>C) c.861+281A>C (n.861+281A>C) | gnomAD v3 gnomAD v4 |
| 19 | g.45803972G>A | CA996342663 | RSPH6A | c.1653+280C>T (n.1653+280C>T) c.861+280C>T (n.861+280C>T) | gnomAD v3 gnomAD v4 |
| 19 | g.45803973_45803974insAAATAT | CA2533267111 | RSPH6A | c.1653+278_1653+279insATATTT (n.1653+278_1653+279insATATTT) c.861+278_861+279insATATTT (n.861+278_861+279insATATTT) | |
| 19 | g.45803974C>A | CA996342664 | RSPH6A | c.1653+278G>T (n.1653+278G>T) c.861+278G>T (n.861+278G>T) | gnomAD v3 gnomAD v4 |
| 19 | g.45803976del | CA996342665 | RSPH6A | c.1653+277del (n.1653+277del) c.861+277del (n.861+277del) | gnomAD v3 gnomAD v4 |
| 19 | g.45803977G>A | CA2338614780 | RSPH6A | c.1653+275C>T (n.1653+275C>T) c.861+275C>T (n.861+275C>T) | dbSNP |
| 19 | g.45803977G= | CA2338614779 | RSPH6A | c.1653+275C= (n.1653+275C=) c.861+275C= (n.861+275C=) | |
| 19 | g.45803977G>T | CA2814566563 | RSPH6A | c.1653+275C>A (n.1653+275C>A) c.861+275C>A (n.861+275C>A) | |
| 19 | g.45803979G>A | CA633359334 | RSPH6A | c.1653+273C>T (n.1653+273C>T) c.861+273C>T (n.861+273C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45803979G= | CA2338614781 | RSPH6A | c.1653+273C= (n.1653+273C=) c.861+273C= (n.861+273C=) | |
| 19 | g.45803980C>A | CA996342666 | RSPH6A | c.1653+272G>T (n.1653+272G>T) c.861+272G>T (n.861+272G>T) | gnomAD v3 gnomAD v4 |
| 19 | g.45803980C= | CA2338614782 | RSPH6A | c.1653+272G= (n.1653+272G=) c.861+272G= (n.861+272G=) | |
| 19 | g.45803980C>G | CA882762638 | RSPH6A | c.1653+272G>C (n.1653+272G>C) c.861+272G>C (n.861+272G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803980C>T | CA882762639 | RSPH6A | c.1653+272G>A (n.1653+272G>A) c.861+272G>A (n.861+272G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803981G>A | CA633359336 | RSPH6A | c.1653+271C>T (n.1653+271C>T) c.861+271C>T (n.861+271C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45803981G= | CA2338614783 | RSPH6A | c.1653+271C= (n.1653+271C=) c.861+271C= (n.861+271C=) | |
| 19 | g.45803982A>G | CA996342675 | RSPH6A | c.1653+270T>C (n.1653+270T>C) c.861+270T>C (n.861+270T>C) | gnomAD v3 gnomAD v4 |
| 19 | g.45803982A>T | CA2814566564 | RSPH6A | c.1653+270T>A (n.1653+270T>A) c.861+270T>A (n.861+270T>A) | |
| 19 | g.45803983G>A | CA996342683 | RSPH6A | c.1653+269C>T (n.1653+269C>T) c.861+269C>T (n.861+269C>T) | gnomAD v3 gnomAD v4 |
| 19 | g.45803983G>C | CA2338614785 | RSPH6A | c.1653+269C>G (n.1653+269C>G) c.861+269C>G (n.861+269C>G) | dbSNP |
| 19 | g.45803983G= | CA2338614784 | RSPH6A | c.1653+269C= (n.1653+269C=) c.861+269C= (n.861+269C=) | |
| 19 | g.45803984_45803986delinsACT | CA2338614786 | RSPH6A | c.1653+266_1653+268delinsAGT (n.1653+266_1653+268delinsAGT) c.861+266_861+268delinsAGT (n.861+266_861+268delinsAGT) | |
| 19 | g.45803985C>A | CA996342687 | RSPH6A | c.1653+267G>T (n.1653+267G>T) c.861+267G>T (n.861+267G>T) | gnomAD v3 gnomAD v4 |
| 19 | g.45803985C= | CA2338614787 | RSPH6A | c.1653+267G= (n.1653+267G=) c.861+267G= (n.861+267G=) | |
| 19 | g.45803985C>G | CA996342703 | RSPH6A | c.1653+267G>C (n.1653+267G>C) c.861+267G>C (n.861+267G>C) | dbSNP |
| 19 | g.45803987_45803988del | CA996342685 | RSPH6A | c.1653+266_1653+267del (n.1653+266_1653+267del) c.861+266_861+267del (n.861+266_861+267del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803986T>A | CA996342706 | RSPH6A | c.1653+266A>T (n.1653+266A>T) c.861+266A>T (n.861+266A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803986T>C | CA996342708 | RSPH6A | c.1653+266A>G (n.1653+266A>G) c.861+266A>G (n.861+266A>G) | gnomAD v3 gnomAD v4 |
| 19 | g.45803986T>G | CA996342709 | RSPH6A | c.1653+266A>C (n.1653+266A>C) c.861+266A>C (n.861+266A>C) | gnomAD v3 gnomAD v4 |
| 19 | g.45803986T= | CA2338614788 | RSPH6A | c.1653+266A= (n.1653+266A=) c.861+266A= (n.861+266A=) | |
| 19 | g.45803987C>A | CA996342712 | RSPH6A | c.1653+265G>T (n.1653+265G>T) c.861+265G>T (n.861+265G>T) | gnomAD v3 gnomAD v4 |
| 19 | g.45803987C= | CA2338614789 | RSPH6A | c.1653+265G= (n.1653+265G=) c.861+265G= (n.861+265G=) | |
| 19 | g.45803987C>T | CA633359338 | RSPH6A | c.1653+265G>A (n.1653+265G>A) c.861+265G>A (n.861+265G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45803988T>A | CA996342715 | RSPH6A | c.1653+264A>T (n.1653+264A>T) c.861+264A>T (n.861+264A>T) | gnomAD v3 gnomAD v4 |
| 19 | g.45803988T>C | CA996342721 | RSPH6A | c.1653+264A>G (n.1653+264A>G) c.861+264A>G (n.861+264A>G) | gnomAD v3 gnomAD v4 |
| 19 | g.45803988T>G | CA996342726 | RSPH6A | c.1653+264A>C (n.1653+264A>C) c.861+264A>C (n.861+264A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803988T= | CA2338614790 | RSPH6A | c.1653+264A= (n.1653+264A=) c.861+264A= (n.861+264A=) | |
| 19 | g.45803989G>A | CA996342729 | RSPH6A | c.1653+263C>T (n.1653+263C>T) c.861+263C>T (n.861+263C>T) | gnomAD v3 gnomAD v4 |
| 19 | g.45803989G>C | CA308996896 | RSPH6A | c.1653+263C>G (n.1653+263C>G) c.861+263C>G (n.861+263C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803989G= | CA2338614791 | RSPH6A | c.1653+263C= (n.1653+263C=) c.861+263C= (n.861+263C=) | |
| 19 | g.45803989G>T | CA2338614792 | RSPH6A | c.1653+263C>A (n.1653+263C>A) c.861+263C>A (n.861+263C>A) | dbSNP |
| 19 | g.45803990T>A | CA996342733 | RSPH6A | c.1653+262A>T (n.1653+262A>T) c.861+262A>T (n.861+262A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803990T>C | CA996342737 | RSPH6A | c.1653+262A>G (n.1653+262A>G) c.861+262A>G (n.861+262A>G) | gnomAD v3 gnomAD v4 |
| 19 | g.45803990T= | CA2338614793 | RSPH6A | c.1653+262A= (n.1653+262A=) c.861+262A= (n.861+262A=) | |
| 19 | g.45803990_45803993del | CA996342731 | RSPH6A | c.1653+259_1653+262del (n.1653+259_1653+262del) c.861+259_861+262del (n.861+259_861+262del) | gnomAD v3 gnomAD v4 |
| 19 | g.45803991C>A | CA996342748 | RSPH6A | c.1653+261G>T (n.1653+261G>T) c.861+261G>T (n.861+261G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803991C>T | CA996342745 | RSPH6A | c.1653+261G>A (n.1653+261G>A) c.861+261G>A (n.861+261G>A) | gnomAD v3 gnomAD v4 |
| 19 | g.45803991_45803992delinsCT | CA2338614794 | RSPH6A | c.1653+260_1653+261delinsAG (n.1653+260_1653+261delinsAG) c.861+260_861+261delinsAG (n.861+260_861+261delinsAG) | |
| 19 | g.45803991_45803993del | CA996342741 | RSPH6A | c.1653+259_1653+261del (n.1653+259_1653+261del) c.861+259_861+261del (n.861+259_861+261del) | gnomAD v3 gnomAD v4 |
| 19 | g.45803992del | CA882762649 | RSPH6A | c.1653+260del (n.1653+260del) c.861+260del (n.861+260del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803992T>A | CA882762654 | RSPH6A | c.1653+260A>T (n.1653+260A>T) c.861+260A>T (n.861+260A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803992T>C | CA996342752 | RSPH6A | c.1653+260A>G (n.1653+260A>G) c.861+260A>G (n.861+260A>G) | gnomAD v3 gnomAD v4 |
| 19 | g.45803992T= | CA2338614796 | RSPH6A | c.1653+260A= (n.1653+260A=) c.861+260A= (n.861+260A=) | |
| 19 | g.45803992_45803993delinsTC | CA2338614795 | RSPH6A | c.1653+259_1653+260delinsGA (n.1653+259_1653+260delinsGA) c.861+259_861+260delinsGA (n.861+259_861+260delinsGA) | |
| 19 | g.45803992_45803993insA | CA996342780 | RSPH6A | c.1653+259_1653+260insT (n.1653+259_1653+260insT) c.861+259_861+260insT (n.861+259_861+260insT) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803992_45803993insAA | CA633359339 | RSPH6A | c.1653+259_1653+260insTT (n.1653+259_1653+260insTT) c.861+259_861+260insTT (n.861+259_861+260insTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45803992_45803993insAAA | CA996342762 | RSPH6A | c.1653+259_1653+260insTTT (n.1653+259_1653+260insTTT) c.861+259_861+260insTTT (n.861+259_861+260insTTT) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803992_45803993insAAAAA | CA996342775 | RSPH6A | c.1653+259_1653+260insTTTTT (n.1653+259_1653+260insTTTTT) c.861+259_861+260insTTTTT (n.861+259_861+260insTTTTT) | gnomAD v3 gnomAD v4 |
| 19 | g.45803992_45803993insAAAAAAAAAAAA | CA996342768 | RSPH6A | c.1653+259_1653+260insTTTTTTTTTTTT (n.1653+259_1653+260insTTTTTTTTTTTT) c.861+259_861+260insTTTTTTTTTTTT (n.861+259_861+260insTTTTTTTTTTTT) | |
| 19 | g.45803993del | CA507828547 | RSPH6A | c.1653+259del (n.1653+259del) c.861+259del (n.861+259del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45803993C>A | CA633359341 | RSPH6A | c.1653+259G>T (n.1653+259G>T) c.861+259G>T (n.861+259G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45803993C= | CA2338614797 | RSPH6A | c.1653+259G= (n.1653+259G=) c.861+259G= (n.861+259G=) | |
| 19 | g.45803993C>T | CA996342764 | RSPH6A | c.1653+259G>A (n.1653+259G>A) c.861+259G>A (n.861+259G>A) | gnomAD v3 gnomAD v4 |
| 19 | g.45803993_45803994del | CA2510574838 | RSPH6A | c.1653+258_1653+259del (n.1653+258_1653+259del) c.861+258_861+259del (n.861+258_861+259del) | |
| 19 | g.45803993_45803995delinsCAA | CA2338614798 | RSPH6A | c.1653+257_1653+259delinsTTG (n.1653+257_1653+259delinsTTG) c.861+257_861+259delinsTTG (n.861+257_861+259delinsTTG) | |
| 19 | g.45803993_45803994insCA | CA2523907609 | RSPH6A | c.1653+258_1653+259insTG (n.1653+258_1653+259insTG) c.861+258_861+259insTG (n.861+258_861+259insTG) | |
| 19 | g.45803994A= | CA2338614800 | RSPH6A | c.1653+258T= (n.1653+258T=) c.861+258T= (n.861+258T=) | |
| 19 | g.45803994A>C | CA2338614799 | RSPH6A | c.1653+258T>G (n.1653+258T>G) c.861+258T>G (n.861+258T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804005_45804006insGAAAAAAAAAGAAAAGAAAAAGGAAAAAAAAAAAAAAAAA | CA996342801 | RSPH6A | c.1653+258_1653+259insTTTTTCCTTTTTCTTTTCTTTTTTTTTCTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTCCTTTTTCTTTTCTTTTTTTTTCTTTTTTTTTTTT) c.861+258_861+259insTTTTTCCTTTTTCTTTTCTTTTTTTTTCTTTTTTTTTTTT (n.861+258_861+259insTTTTTCCTTTTTCTTTTCTTTTTTTTTCTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 19 | g.45804006_45804007insAAAAAAAAAAAAAA | CA996342820 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804006_45804007insAAAAAAAAAAAAAAA | CA996342810 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 19 | g.45804006_45804007insAAAAAAAAAAAAAAAA | CA996342808 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 19 | g.45804006_45804007insAAAAAAAAAAAAAAAAA | CA2814566565 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTTTT) | |
| 19 | g.45804006_45804007insAAAAAAAAAAAAAAAAAAAAA | CA996342807 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 19 | g.45804006_45804007insAAAAAAAAAAAAAAAAAAAAAAA | CA2582198548 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 19 | g.45804006_45804007insAGAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA996342804 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 19 | g.45804006dup | CA633359344 | RSPH6A | c.1653+258dup (n.1653+258dup) c.861+258dup (n.861+258dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804005_45804006dup | CA308996899 | RSPH6A | c.1653+257_1653+258dup (n.1653+257_1653+258dup) c.861+257_861+258dup (n.861+257_861+258dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804004_45804006dup | CA633359345 | RSPH6A | c.1653+256_1653+258dup (n.1653+256_1653+258dup) c.861+256_861+258dup (n.861+256_861+258dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804003_45804006dup | CA920119526 | RSPH6A | c.1653+255_1653+258dup (n.1653+255_1653+258dup) c.861+255_861+258dup (n.861+255_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804002_45804006dup | CA996342850 | RSPH6A | c.1653+254_1653+258dup (n.1653+254_1653+258dup) c.861+254_861+258dup (n.861+254_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804001_45804006dup | CA996342831 | RSPH6A | c.1653+253_1653+258dup (n.1653+253_1653+258dup) c.861+253_861+258dup (n.861+253_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804000_45804006dup | CA996342829 | RSPH6A | c.1653+252_1653+258dup (n.1653+252_1653+258dup) c.861+252_861+258dup (n.861+252_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803999_45804006dup | CA996342828 | RSPH6A | c.1653+251_1653+258dup (n.1653+251_1653+258dup) c.861+251_861+258dup (n.861+251_861+258dup) | gnomAD v3 gnomAD v4 |
| 19 | g.45803998_45804006dup | CA996342825 | RSPH6A | c.1653+250_1653+258dup (n.1653+250_1653+258dup) c.861+250_861+258dup (n.861+250_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45803997_45804006dup | CA996342793 | RSPH6A | c.1653+249_1653+258dup (n.1653+249_1653+258dup) c.861+249_861+258dup (n.861+249_861+258dup) | gnomAD v3 gnomAD v4 |
| 19 | g.45803996_45804006dup | CA996342822 | RSPH6A | c.1653+248_1653+258dup (n.1653+248_1653+258dup) c.861+248_861+258dup (n.861+248_861+258dup) | gnomAD v3 gnomAD v4 |
| 19 | g.45803995_45804006dup | CA996342821 | RSPH6A | c.1653+247_1653+258dup (n.1653+247_1653+258dup) c.861+247_861+258dup (n.861+247_861+258dup) | gnomAD v3 gnomAD v4 |
| 19 | g.45803994_45804006dup | CA996342857 | RSPH6A | c.1653+246_1653+258dup (n.1653+246_1653+258dup) c.861+246_861+258dup (n.861+246_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804006del | CA308996901 | RSPH6A | c.1653+258del (n.1653+258del) c.861+258del (n.861+258del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804005_45804006del | CA633359342 | RSPH6A | c.1653+257_1653+258del (n.1653+257_1653+258del) c.861+257_861+258del (n.861+257_861+258del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804004_45804006del | CA996342797 | RSPH6A | c.1653+256_1653+258del (n.1653+256_1653+258del) c.861+256_861+258del (n.861+256_861+258del) | gnomAD v3 gnomAD v4 |
| 19 | g.45804003_45804006del | CA996342795 | RSPH6A | c.1653+255_1653+258del (n.1653+255_1653+258del) c.861+255_861+258del (n.861+255_861+258del) | gnomAD v3 gnomAD v4 |
| 19 | g.45803995A= | CA2338614801 | RSPH6A | c.1653+257T= (n.1653+257T=) c.861+257T= (n.861+257T=) | |
| 19 | g.45803995A>G | CA633359347 | RSPH6A | c.1653+257T>C (n.1653+257T>C) c.861+257T>C (n.861+257T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45803996A= | CA2338614803 | RSPH6A | c.1653+256T= (n.1653+256T=) c.861+256T= (n.861+256T=) | |
| 19 | g.45803996A>G | CA2338614802 | RSPH6A | c.1653+256T>C (n.1653+256T>C) c.861+256T>C (n.861+256T>C) | dbSNP |
| 19 | g.45803997A= | CA2338614804 | RSPH6A | c.1653+255T= (n.1653+255T=) c.861+255T= (n.861+255T=) | |
| 19 | g.45803998_45803999insGA | CA882762698 | RSPH6A | c.1653+254_1653+255insCT (n.1653+254_1653+255insCT) c.861+254_861+255insCT (n.861+254_861+255insCT) | dbSNP |
| 19 | g.45804000A= | CA2338614805 | RSPH6A | c.1653+252T= (n.1653+252T=) c.861+252T= (n.861+252T=) | |
| 19 | g.45804000A>T | CA882762702 | RSPH6A | c.1653+252T>A (n.1653+252T>A) c.861+252T>A (n.861+252T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804001_45804007delinsAAAAAAG | CA2338614806 | RSPH6A | c.1653+245_1653+251delinsCTTTTTT (n.1653+245_1653+251delinsCTTTTTT) c.861+245_861+251delinsCTTTTTT (n.861+245_861+251delinsCTTTTTT) | |
| 19 | g.45804001_45804012delinsAAAAAAGAAAAG | CA2338614807 | RSPH6A | c.1653+240_1653+251delinsCTTTTCTTTTTT (n.1653+240_1653+251delinsCTTTTCTTTTTT) c.861+240_861+251delinsCTTTTCTTTTTT (n.861+240_861+251delinsCTTTTCTTTTTT) | |
| 19 | g.45804001_45804002insC | CA2736077991 | RSPH6A | c.1653+250_1653+251insG (n.1653+250_1653+251insG) c.861+250_861+251insG (n.861+250_861+251insG) | dbSNP |
| 19 | g.45804002A= | CA2338614809 | RSPH6A | c.1653+250T= (n.1653+250T=) c.861+250T= (n.861+250T=) | |
| 19 | g.45804002A>G | CA2338614808 | RSPH6A | c.1653+250T>C (n.1653+250T>C) c.861+250T>C (n.861+250T>C) | dbSNP |
| 19 | g.45804006_45804011del | CA308996902 | RSPH6A | c.1653+245_1653+250del (n.1653+245_1653+250del) c.861+245_861+250del (n.861+245_861+250del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804002_45804012delinsAAAAAGAAAAG | CA2338614810 | RSPH6A | c.1653+240_1653+250delinsCTTTTCTTTTT (n.1653+240_1653+250delinsCTTTTCTTTTT) c.861+240_861+250delinsCTTTTCTTTTT (n.861+240_861+250delinsCTTTTCTTTTT) | |
| 19 | g.45804006_45804016del | CA633359348 | RSPH6A | c.1653+240_1653+250del (n.1653+240_1653+250del) c.861+240_861+250del (n.861+240_861+250del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804003A= | CA2338614811 | RSPH6A | c.1653+249T= (n.1653+249T=) c.861+249T= (n.861+249T=) | |
| 19 | g.45804003A>C | CA882762732 | RSPH6A | c.1653+249T>G (n.1653+249T>G) c.861+249T>G (n.861+249T>G) | dbSNP |
| 19 | g.45804005_45804006insGAAA | CA308996905 | RSPH6A | c.1653+249_1653+250insCTTT (n.1653+249_1653+250insCTTT) c.861+249_861+250insCTTT (n.861+249_861+250insCTTT) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804003_45804007delinsAAAAG | CA2338614812 | RSPH6A | c.1653+245_1653+249delinsCTTTT (n.1653+245_1653+249delinsCTTTT) c.861+245_861+249delinsCTTTT (n.861+245_861+249delinsCTTTT) | |
| 19 | g.45804022_45804026dup | CA996342882 | RSPH6A | c.1653+245_1653+249dup (n.1653+245_1653+249dup) c.861+245_861+249dup (n.861+245_861+249dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804022_45804026del | CA633359350 | RSPH6A | c.1653+245_1653+249del (n.1653+245_1653+249del) c.861+245_861+249del (n.861+245_861+249del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804017_45804026del | CA633359349 | RSPH6A | c.1653+240_1653+249del (n.1653+240_1653+249del) c.861+240_861+249del (n.861+240_861+249del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804004_45804007delinsAAAG | CA2338614813 | RSPH6A | c.1653+245_1653+248delinsCTTT (n.1653+245_1653+248delinsCTTT) c.861+245_861+248delinsCTTT (n.861+245_861+248delinsCTTT) | |
| 19 | g.45804007_45804010dup | CA996342890 | RSPH6A | c.1653+245_1653+248dup (n.1653+245_1653+248dup) c.861+245_861+248dup (n.861+245_861+248dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804007_45804010del | CA996342892 | RSPH6A | c.1653+245_1653+248del (n.1653+245_1653+248del) c.861+245_861+248del (n.861+245_861+248del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804004_45804012delinsAAAGAAAAG | CA2338614814 | RSPH6A | c.1653+240_1653+248delinsCTTTTCTTT (n.1653+240_1653+248delinsCTTTTCTTT) c.861+240_861+248delinsCTTTTCTTT (n.861+240_861+248delinsCTTTTCTTT) | |
| 19 | g.45804007_45804009del | CA633359351 | RSPH6A | c.1653+245_1653+247del (n.1653+245_1653+247del) c.861+245_861+247del (n.861+245_861+247del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804007_45804014del | CA996342899 | RSPH6A | c.1653+240_1653+247del (n.1653+240_1653+247del) c.861+240_861+247del (n.861+240_861+247del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804007_45804008del | CA996342901 | RSPH6A | c.1653+245_1653+246del (n.1653+245_1653+246del) c.861+245_861+246del (n.861+245_861+246del) | gnomAD v3 gnomAD v4 |
| 19 | g.45804007del | CA996342908 | RSPH6A | c.1653+245del (n.1653+245del) c.861+245del (n.861+245del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804007G>A | CA633359352 | RSPH6A | c.1653+245C>T (n.1653+245C>T) c.861+245C>T (n.861+245C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.45804007G= | CA2338614815 | RSPH6A | c.1653+245C= (n.1653+245C=) c.861+245C= (n.861+245C=) | |
| 19 | g.45804007G>T | CA2735900331 | RSPH6A | c.1653+245C>A (n.1653+245C>A) c.861+245C>A (n.861+245C>A) | dbSNP |
| 19 | g.45804011_45804012delinsAG | CA2338614816 | RSPH6A | c.1653+240_1653+241delinsCT (n.1653+240_1653+241delinsCT) c.861+240_861+241delinsCT (n.861+240_861+241delinsCT) | |
| 19 | g.45804012del | CA2338614817 | RSPH6A | c.1653+240del (n.1653+240del) c.861+240del (n.861+240del) | dbSNP |
| 19 | g.45804012G>A | CA633359353 | RSPH6A | c.1653+240C>T (n.1653+240C>T) c.861+240C>T (n.861+240C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804012G>C | CA882762752 | RSPH6A | c.1653+240C>G (n.1653+240C>G) c.861+240C>G (n.861+240C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804012G= | CA2338614818 | RSPH6A | c.1653+240C= (n.1653+240C=) c.861+240C= (n.861+240C=) | |
| 19 | g.45804012G>T | CA996342920 | RSPH6A | c.1653+240C>A (n.1653+240C>A) c.861+240C>A (n.861+240C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804012_45804023delinsGAAAAGAAAAGA | CA2338614819 | RSPH6A | c.1653+229_1653+240delinsTCTTTTCTTTTC (n.1653+229_1653+240delinsTCTTTTCTTTTC) c.861+229_861+240delinsTCTTTTCTTTTC (n.861+229_861+240delinsTCTTTTCTTTTC) | |
| 19 | g.45804013A>G | CA2814566566 | RSPH6A | c.1653+239T>C (n.1653+239T>C) c.861+239T>C (n.861+239T>C) | |
| 19 | g.45804022_45804032del | CA882762755 | RSPH6A | c.1653+229_1653+239del (n.1653+229_1653+239del) c.861+229_861+239del (n.861+229_861+239del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804017del | CA2572852942 | RSPH6A | c.1653+235del (n.1653+235del) c.861+235del (n.861+235del) | |
| 19 | g.45804017G>A | CA633359354 | RSPH6A | c.1653+235C>T (n.1653+235C>T) c.861+235C>T (n.861+235C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804017G>C | CA2814566567 | RSPH6A | c.1653+235C>G (n.1653+235C>G) c.861+235C>G (n.861+235C>G) | |
| 19 | g.45804017G= | CA2338614820 | RSPH6A | c.1653+235C= (n.1653+235C=) c.861+235C= (n.861+235C=) | |
| 19 | g.45804021_45804022insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAA | CA2814566568 | RSPH6A | c.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.861+234_861+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.861+234_861+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
| 19 | g.45804021_45804022insAGAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAAA | CA996342933 | RSPH6A | c.1653+234_1653+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT (n.1653+234_1653+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT) c.861+234_861+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT (n.861+234_861+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT) | gnomAD v3 gnomAD v4 |
| 19 | g.45804021_45804022insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA996342934 | RSPH6A | c.1653+234_1653+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.1653+234_1653+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT) c.861+234_861+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.861+234_861+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT) | gnomAD v3 gnomAD v4 |
| 19 | g.45804021dup | CA308996907 | RSPH6A | c.1653+234dup (n.1653+234dup) c.861+234dup (n.861+234dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804021_45804022delinsAG | CA2338614821 | RSPH6A | c.1653+230_1653+231delinsCT (n.1653+230_1653+231delinsCT) c.861+230_861+231delinsCT (n.861+230_861+231delinsCT) | |
| 19 | g.45804022del | CA308996908 | RSPH6A | c.1653+230del (n.1653+230del) c.861+230del (n.861+230del) | dbSNP |
| 19 | g.45804022G>A | CA308996910 | RSPH6A | c.1653+230C>T (n.1653+230C>T) c.861+230C>T (n.861+230C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804022G>C | CA2814566569 | RSPH6A | c.1653+230C>G (n.1653+230C>G) c.861+230C>G (n.861+230C>G) | |
| 19 | g.45804022G= | CA2338614823 | RSPH6A | c.1653+230C= (n.1653+230C=) c.861+230C= (n.861+230C=) | |
| 19 | g.45804022G>T | CA882762761 | RSPH6A | c.1653+230C>A (n.1653+230C>A) c.861+230C>A (n.861+230C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804022_45804031delinsGAAAAAGAAA | CA2338614822 | RSPH6A | c.1653+221_1653+230delinsTTTCTTTTTC (n.1653+221_1653+230delinsTTTCTTTTTC) c.861+221_861+230delinsTTTCTTTTTC (n.861+221_861+230delinsTTTCTTTTTC) | |
| 19 | g.45804036_45804037insAAAAAAAAAAAAAAAAGAAAAAAAAAAGAAAAAAAA | CA996342938 | RSPH6A | c.1653+229_1653+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.1653+229_1653+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT) c.861+229_861+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.861+229_861+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT) | gnomAD v3 gnomAD v4 |
| 19 | g.45804031_45804039del | CA2338614824 | RSPH6A | c.1653+221_1653+229del (n.1653+221_1653+229del) c.861+221_861+229del (n.861+221_861+229del) | dbSNP |
| 19 | g.45804024A= | CA2338614825 | RSPH6A | c.1653+228T= (n.1653+228T=) c.861+228T= (n.861+228T=) | |
| 19 | g.45804024A>G | CA308996912 | RSPH6A | c.1653+228T>C (n.1653+228T>C) c.861+228T>C (n.861+228T>C) | dbSNP |
| 19 | g.45804024_45804028delinsAAAAG | CA2338614826 | RSPH6A | c.1653+224_1653+228delinsCTTTT (n.1653+224_1653+228delinsCTTTT) c.861+224_861+228delinsCTTTT (n.861+224_861+228delinsCTTTT) | |
| 19 | g.45804025A= | CA2338614827 | RSPH6A | c.1653+227T= (n.1653+227T=) c.861+227T= (n.861+227T=) | |
| 19 | g.45804025A>G | CA308996915 | RSPH6A | c.1653+227T>C (n.1653+227T>C) c.861+227T>C (n.861+227T>C) | dbSNP |
| 19 | g.45804028_45804031del | CA882762772 | RSPH6A | c.1653+224_1653+227del (n.1653+224_1653+227del) c.861+224_861+227del (n.861+224_861+227del) | dbSNP |
| 19 | g.45804028G>A | CA633359355 | RSPH6A | c.1653+224C>T (n.1653+224C>T) c.861+224C>T (n.861+224C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804028G= | CA2338614828 | RSPH6A | c.1653+224C= (n.1653+224C=) c.861+224C= (n.861+224C=) | |
| 19 | g.45804028G>T | CA2741634619 | RSPH6A | c.1653+224C>A (n.1653+224C>A) c.861+224C>A (n.861+224C>A) | |
| 19 | g.45804028_45804031delinsGAAA | CA2338614829 | RSPH6A | c.1653+221_1653+224delinsTTTC (n.1653+221_1653+224delinsTTTC) c.861+221_861+224delinsTTTC (n.861+221_861+224delinsTTTC) | |
| 19 | g.45804036_45804037insAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA | CA996342940 | RSPH6A | c.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT (n.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT) c.861+223_861+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT (n.861+223_861+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 19 | g.45804036dup | CA633359356 | RSPH6A | c.1653+223dup (n.1653+223dup) c.861+223dup (n.861+223dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804034_45804036del | CA996342942 | RSPH6A | c.1653+221_1653+223del (n.1653+221_1653+223del) c.861+221_861+223del (n.861+221_861+223del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804032_45804037delinsAAAAAG | CA2338614830 | RSPH6A | c.1653+215_1653+220delinsCTTTTT (n.1653+215_1653+220delinsCTTTTT) c.861+215_861+220delinsCTTTTT (n.861+215_861+220delinsCTTTTT) | |
| 19 | g.45804035_45804039del | CA2338614831 | RSPH6A | c.1653+215_1653+219del (n.1653+215_1653+219del) c.861+215_861+219del (n.861+215_861+219del) | dbSNP |
| 19 | g.45804034A>T | CA2741634620 | RSPH6A | c.1653+218T>A (n.1653+218T>A) c.861+218T>A (n.861+218T>A) | |
| 19 | g.45804035A= | CA2338614832 | RSPH6A | c.1653+217T= (n.1653+217T=) c.861+217T= (n.861+217T=) | |
| 19 | g.45804035A>G | CA308996917 | RSPH6A | c.1653+217T>C (n.1653+217T>C) c.861+217T>C (n.861+217T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804036A= | CA2338614833 | RSPH6A | c.1653+216T= (n.1653+216T=) c.861+216T= (n.861+216T=) | |
| 19 | g.45804036_45804040delinsAGAAG | CA2338614834 | RSPH6A | c.1653+212_1653+216delinsCTTCT (n.1653+212_1653+216delinsCTTCT) c.861+212_861+216delinsCTTCT (n.861+212_861+216delinsCTTCT) | |
| 19 | g.45804037G>A | CA882762785 | RSPH6A | c.1653+215C>T (n.1653+215C>T) c.861+215C>T (n.861+215C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804037G= | CA2338614835 | RSPH6A | c.1653+215C= (n.1653+215C=) c.861+215C= (n.861+215C=) | |
| 19 | g.45804037dup | CA882762780 | RSPH6A | c.1653+215dup (n.1653+215dup) c.861+215dup (n.861+215dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804037_45804040del | CA996342946 | RSPH6A | c.1653+212_1653+215del (n.1653+212_1653+215del) c.861+212_861+215del (n.861+212_861+215del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804037_45804041delinsGAAGA | CA2338614836 | RSPH6A | c.1653+211_1653+215delinsTCTTC (n.1653+211_1653+215delinsTCTTC) c.861+211_861+215delinsTCTTC (n.861+211_861+215delinsTCTTC) | |
| 19 | g.45804048_45804051del | CA633359357 | RSPH6A | c.1653+211_1653+214del (n.1653+211_1653+214del) c.861+211_861+214del (n.861+211_861+214del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804040G>A | CA996342955 | RSPH6A | c.1653+212C>T (n.1653+212C>T) c.861+212C>T (n.861+212C>T) | gnomAD v3 gnomAD v4 |
| 19 | g.45804042A= | CA2338614837 | RSPH6A | c.1653+210T= (n.1653+210T=) c.861+210T= (n.861+210T=) | |
| 19 | g.45804042A>C | CA996342956 | RSPH6A | c.1653+210T>G (n.1653+210T>G) c.861+210T>G (n.861+210T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804044G>A | CA996342960 | RSPH6A | c.1653+208C>T (n.1653+208C>T) c.861+208C>T (n.861+208C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45804044G= | CA2338614838 | RSPH6A | c.1653+208C= (n.1653+208C=) c.861+208C= (n.861+208C=) |