2 | g.215404323_215404327dup | CA764567462 | FN1 | c.3253+81_3253+85dup (n.3253+81_3253+85dup)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404323_215404327del | CA64868265 | FN1 | c.3253+81_3253+85del (n.3253+81_3253+85del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404308_215404311del | CA2577236839 | FN1 | c.3253+81_3253+84del (n.3253+81_3253+84del)
| gnomAD v4 |
2 | g.215404308_215404310del | CA539545010 | FN1 | c.3253+81_3253+83del (n.3253+81_3253+83del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404307_215404310delinsGTTG | CA916773095 | FN1 | c.3253+79_3253+82delinsCAAC (n.3253+79_3253+82delinsCAAC)
| dbSNP |
2 | g.215404307_215404310delinsTGTT | CA1327359661 | FN1 | c.3253+79_3253+82delinsAACA (n.3253+79_3253+82delinsAACA)
| |
2 | g.215404308_215404310delinsGTT | CA1327359665 | FN1 | c.3253+79_3253+81delinsAAC (n.3253+79_3253+81delinsAAC)
| |
2 | g.215404308_215404310delinsTTG | CA64868271 | FN1 | c.3253+79_3253+81delinsCAA (n.3253+79_3253+81delinsCAA)
| dbSNP |
2 | g.215404310_215404311insGTTT | CA2663003589 | FN1 | c.3253+80_3253+81insACAA (n.3253+80_3253+81insACAA)
| gnomAD v4 |
2 | g.215404312_215404313insTTTTTTTTTT | CA2663003595 | FN1 | c.3253+80_3253+81insAAAAAAAAAA (n.3253+80_3253+81insAAAAAAAAAA)
| gnomAD v4 |
2 | g.215404312_215404313insTTTTTTTTTTTTTTT | CA2663003594 | FN1 | c.3253+80_3253+81insAAAAAAAAAAAAAAA (n.3253+80_3253+81insAAAAAAAAAAAAAAA)
| gnomAD v4 |
2 | g.215404312dup | CA1042244488 | FN1 | c.3253+80dup (n.3253+80dup)
| gnomAD v3 gnomAD v4 |
2 | g.215404311_215404312dup | CA2663003605 | FN1 | c.3253+79_3253+80dup (n.3253+79_3253+80dup)
| gnomAD v4 |
2 | g.215404311_215404312del | CA64868273 | FN1 | c.3253+79_3253+80del (n.3253+79_3253+80del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404310T>G | CA16126760 | FN1 | c.3253+79A>C (n.3253+79A>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404310T= | CA1327359668 | FN1 | c.3253+79A= (n.3253+79A=)
| |
2 | g.215404310_215404311insG | CA64868274 | FN1 | c.3253+78_3253+79insC (n.3253+78_3253+79insC)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404310_215404311insGTTTTG | CA2663003622 | FN1 | c.3253+78_3253+79insCAAAAC (n.3253+78_3253+79insCAAAAC)
| gnomAD v4 |
2 | g.215404310_215404311insGTTTTGTG | CA2663003621 | FN1 | c.3253+78_3253+79insCACAAAAC (n.3253+78_3253+79insCACAAAAC)
| gnomAD v4 |
2 | g.215404311T>G | CA2663003616 | FN1 | c.3253+78A>C (n.3253+78A>C)
| gnomAD v4 |
2 | g.215404311_215404312insGT | CA1327359669 | FN1 | c.3253+78_3253+79insCA (n.3253+78_3253+79insCA)
| dbSNP gnomAD v4 |
2 | g.215404313_215404314insGGGTTG | CA2663003618 | FN1 | c.3253+78_3253+79insCCCCAA (n.3253+78_3253+79insCCCCAA)
| gnomAD v4 |
2 | g.215404313_215404315dup | CA2663003615 | FN1 | c.3253+76_3253+78dup (n.3253+76_3253+78dup)
| gnomAD v4 |
2 | g.215404313_215404315del | CA1042244492 | FN1 | c.3253+76_3253+78del (n.3253+76_3253+78del)
| gnomAD v3 gnomAD v4 |
2 | g.215404311_215404312insGG | CA2663003623 | FN1 | c.3253+77_3253+78insCC (n.3253+77_3253+78insCC)
| gnomAD v4 |
2 | g.215404312T>C | CA764567488 | FN1 | c.3253+77A>G (n.3253+77A>G)
| dbSNP |
2 | g.215404312T>G | CA539545012 | FN1 | c.3253+77A>C (n.3253+77A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404312T= | CA1327359670 | FN1 | c.3253+77A= (n.3253+77A=)
| |
2 | g.215404312_215404313insTGGGTGT | CA2663003624 | FN1 | c.3253+77_3253+78insCACCCAA (n.3253+77_3253+78insCACCCAA)
| gnomAD v4 |
2 | g.215404313_215404314del | CA2663003625 | FN1 | c.3253+76_3253+77del (n.3253+76_3253+77del)
| gnomAD v4 |
2 | g.215404312_215404313insTG | CA1327359674 | FN1 | c.3253+76_3253+77insCA (n.3253+76_3253+77insCA)
| dbSNP gnomAD v4 |
2 | g.215404312_215404313insTGG | CA2663003629 | FN1 | c.3253+76_3253+77insCCA (n.3253+76_3253+77insCCA)
| gnomAD v4 |
2 | g.215404312_215404313insTTG | CA2577236844 | FN1 | c.3253+76_3253+77insCAA (n.3253+76_3253+77insCAA)
| |
2 | g.215404313del | CA2663003628 | FN1 | c.3253+76del (n.3253+76del)
| gnomAD v4 |
2 | g.215404313G>A | CA2663003627 | FN1 | c.3253+76C>T (n.3253+76C>T)
| gnomAD v4 |
2 | g.215404313G>C | CA2577236845 | FN1 | c.3253+76C>G (n.3253+76C>G)
| |
2 | g.215404313G= | CA1327359673 | FN1 | c.3253+76C= (n.3253+76C=)
| |
2 | g.215404313G>T | CA64868276 | FN1 | c.3253+76C>A (n.3253+76C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404313_215404314insGG | CA2663003636 | FN1 | c.3253+76_3253+77insCC (n.3253+76_3253+77insCC)
| gnomAD v4 |
2 | g.215404313dup | CA64868275 | FN1 | c.3253+76dup (n.3253+76dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404314_215404315insGGT | CA2663003631 | FN1 | c.3253+76_3253+77insCAC (n.3253+76_3253+77insCAC)
| gnomAD v4 |
2 | g.215404313_215404315delinsGTT | CA1327359672 | FN1 | c.3253+74_3253+76delinsAAC (n.3253+74_3253+76delinsAAC)
| |
2 | g.215404313_215404317delinsGTTTT | CA1327359671 | FN1 | c.3253+72_3253+76delinsAAAAC (n.3253+72_3253+76delinsAAAAC)
| |
2 | g.215404313_215404314insGGTTTT | CA2663003652 | FN1 | c.3253+75_3253+76insAAAACC (n.3253+75_3253+76insAAAACC)
| gnomAD v4 |
2 | g.215404313_215404314insGTTTTTTTTTTTTTTT | CA2663003651 | FN1 | c.3253+75_3253+76insAAAAAAAAAAAAAAAC (n.3253+75_3253+76insAAAAAAAAAAAAAAAC)
| gnomAD v4 |
2 | g.215404314T>C | CA2663003654 | FN1 | c.3253+75A>G (n.3253+75A>G)
| gnomAD v4 |
2 | g.215404314T>G | CA1042244502 | FN1 | c.3253+75A>C (n.3253+75A>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404314T= | CA1327359675 | FN1 | c.3253+75A= (n.3253+75A=)
| |
2 | g.215404314_215404317del | CA539545013 | FN1 | c.3253+72_3253+75del (n.3253+72_3253+75del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404317_215404318insTTTTTT | CA1042244504 | FN1 | c.3253+75_3253+76insAAAAAA (n.3253+75_3253+76insAAAAAA)
| gnomAD v3 gnomAD v4 |
2 | g.215404317_215404318insTTTTTTTTTT | CA2663003660 | FN1 | c.3253+75_3253+76insAAAAAAAAAA (n.3253+75_3253+76insAAAAAAAAAA)
| gnomAD v4 |
2 | g.215404317_215404318insTTTTTTTTTTT | CA2663003659 | FN1 | c.3253+75_3253+76insAAAAAAAAAAA (n.3253+75_3253+76insAAAAAAAAAAA)
| gnomAD v4 |
2 | g.215404317_215404318insTTTTTTTTTTTTTTT | CA2663003656 | FN1 | c.3253+75_3253+76insAAAAAAAAAAAAAAA (n.3253+75_3253+76insAAAAAAAAAAAAAAA)
| gnomAD v4 |
2 | g.215404317dup | CA1042244505 | FN1 | c.3253+75dup (n.3253+75dup)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404315_215404317dup | CA2663003663 | FN1 | c.3253+73_3253+75dup (n.3253+73_3253+75dup)
| gnomAD v4 |
2 | g.215404316_215404317del | CA539545014 | FN1 | c.3253+74_3253+75del (n.3253+74_3253+75del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404322_215404323insTTTTTTGTTTT | CA2663003662 | FN1 | c.3253+75_3253+76insAAAAAACAAAA (n.3253+75_3253+76insAAAAAACAAAA)
| gnomAD v4 |
2 | g.215404314_215404315insGTTGG | CA2663003670 | FN1 | c.3253+74_3253+75insCCAAC (n.3253+74_3253+75insCCAAC)
| gnomAD v4 |
2 | g.215404315T>A | CA2663003667 | FN1 | c.3253+74A>T (n.3253+74A>T)
| gnomAD v4 |
2 | g.215404315T>G | CA2663003665 | FN1 | c.3253+74A>C (n.3253+74A>C)
| gnomAD v4 |
2 | g.215404315_215404316insGGT | CA2663003664 | FN1 | c.3253+74_3253+75insCCA (n.3253+74_3253+75insCCA)
| gnomAD v4 |
2 | g.215404316_215404317insGGTT | CA2663003669 | FN1 | c.3253+74_3253+75insCCAA (n.3253+74_3253+75insCCAA)
| gnomAD v4 |
2 | g.215404316T>C | CA2663003672 | FN1 | c.3253+73A>G (n.3253+73A>G)
| gnomAD v4 |
2 | g.215404316T>G | CA2663003673 | FN1 | c.3253+73A>C (n.3253+73A>C)
| gnomAD v4 |
2 | g.215404318_215404319insGGTTG | CA2663003671 | FN1 | c.3253+73_3253+74insCCCAA (n.3253+73_3253+74insCCCAA)
| gnomAD v4 |
2 | g.215404317T>G | CA1042244507 | FN1 | c.3253+72A>C (n.3253+72A>C)
| gnomAD v3 gnomAD v4 |
2 | g.215404317_215404318delinsTG | CA1327359676 | FN1 | c.3253+71_3253+72delinsCA (n.3253+71_3253+72delinsCA)
| |
2 | g.215404318_215404319dup | CA2663003678 | FN1 | c.3253+71_3253+72dup (n.3253+71_3253+72dup)
| gnomAD v4 |
2 | g.215404318_215404319del | CA2663003681 | FN1 | c.3253+71_3253+72del (n.3253+71_3253+72del)
| gnomAD v4 |
2 | g.215404318del | CA1327359677 | FN1 | c.3253+71del (n.3253+71del)
| dbSNP gnomAD v4 |
2 | g.215404318G>A | CA2663003687 | FN1 | c.3253+71C>T (n.3253+71C>T)
| gnomAD v4 |
2 | g.215404318G>C | CA2663003688 | FN1 | c.3253+71C>G (n.3253+71C>G)
| gnomAD v4 |
2 | g.215404318G= | CA1327359678 | FN1 | c.3253+71C= (n.3253+71C=)
| |
2 | g.215404318G>T | CA539545015 | FN1 | c.3253+71C>A (n.3253+71C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404318_215404319insGTTTGT | CA2663003699 | FN1 | c.3253+70_3253+71insACAAAC (n.3253+70_3253+71insACAAAC)
| gnomAD v4 |
2 | g.215404319T>G | CA2663003693 | FN1 | c.3253+70A>C (n.3253+70A>C)
| gnomAD v4 |
2 | g.215404322_215404323insTTTTT | CA2663003701 | FN1 | c.3253+70_3253+71insAAAAA (n.3253+70_3253+71insAAAAA)
| gnomAD v4 |
2 | g.215404322_215404323insTTTTTTTTTT | CA2663003695 | FN1 | c.3253+70_3253+71insAAAAAAAAAA (n.3253+70_3253+71insAAAAAAAAAA)
| gnomAD v4 |
2 | g.215404322dup | CA64868277 | FN1 | c.3253+70dup (n.3253+70dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404321_215404322dup | CA2663003696 | FN1 | c.3253+69_3253+70dup (n.3253+69_3253+70dup)
| gnomAD v4 |
2 | g.215404321T>C | CA764567512 | FN1 | c.3253+68A>G (n.3253+68A>G)
| dbSNP |
2 | g.215404321T= | CA1327359679 | FN1 | c.3253+68A= (n.3253+68A=)
| |
2 | g.215404322T>C | CA2663003706 | FN1 | c.3253+67A>G (n.3253+67A>G)
| gnomAD v4 |
2 | g.215404322_215404323delinsTG | CA1327359680 | FN1 | c.3253+66_3253+67delinsCA (n.3253+66_3253+67delinsCA)
| |
2 | g.215404323_215404324del | CA2663003704 | FN1 | c.3253+66_3253+67del (n.3253+66_3253+67del)
| gnomAD v4 |
2 | g.215404323del | CA764567522 | FN1 | c.3253+66del (n.3253+66del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404323G>A | CA1327359682 | FN1 | c.3253+66C>T (n.3253+66C>T)
| dbSNP gnomAD v4 |
2 | g.215404323G>C | CA764567520 | FN1 | c.3253+66C>G (n.3253+66C>G)
| dbSNP gnomAD v4 |
2 | g.215404323G= | CA1327359681 | FN1 | c.3253+66C= (n.3253+66C=)
| |
2 | g.215404323G>T | CA11326853 | FN1 | c.3253+66C>A (n.3253+66C>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404323_215404324insCTTTT | CA2663003719 | FN1 | c.3253+65_3253+66insAAAAG (n.3253+65_3253+66insAAAAG)
| gnomAD v4 |
2 | g.215404324T>G | CA2663003717 | FN1 | c.3253+65A>C (n.3253+65A>C)
| gnomAD v4 |
2 | g.215404327_215404328insTTTTT | CA1042244511 | FN1 | c.3253+65_3253+66insAAAAA (n.3253+65_3253+66insAAAAA)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404327_215404328insTTTTTT | CA2577236846 | FN1 | c.3253+65_3253+66insAAAAAA (n.3253+65_3253+66insAAAAAA)
| |
2 | g.215404327_215404328insTTTTTTGTTTTGTTTTTTTTT | CA2663003718 | FN1 | c.3253+65_3253+66insAAAAACAAAACAAAAAAAAAA (n.3253+65_3253+66insAAAAACAAAACAAAAAAAAAA)
| gnomAD v4 |
2 | g.215404325_215404327dup | CA2663003716 | FN1 | c.3253+63_3253+65dup (n.3253+63_3253+65dup)
| gnomAD v4 |
2 | g.215404327T>C | CA2514175071 | FN1 | c.3253+62A>G (n.3253+62A>G)
| |
2 | g.215404327_215404328insTTTTA | CA2663003723 | FN1 | c.3253+61_3253+62insTAAAA (n.3253+61_3253+62insTAAAA)
| gnomAD v4 |
2 | g.215404327_215404328insTTTTTA | CA2663003725 | FN1 | c.3253+61_3253+62insTAAAAA (n.3253+61_3253+62insTAAAAA)
| gnomAD v4 |
2 | g.215404328A= | CA1327359683 | FN1 | c.3253+61T= (n.3253+61T=)
| |
2 | g.215404328A>T | CA1042244517 | FN1 | c.3253+61T>A (n.3253+61T>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404330dup | CA2577236847 | FN1 | c.3253+61dup (n.3253+61dup)
| |
2 | g.215404329A>C | CA2663003727 | FN1 | c.3253+60T>G (n.3253+60T>G)
| gnomAD v4 |
2 | g.215404329A>G | CA2663003730 | FN1 | c.3253+60T>C (n.3253+60T>C)
| gnomAD v4 |
2 | g.215404329A>T | CA2663003729 | FN1 | c.3253+60T>A (n.3253+60T>A)
| gnomAD v4 |
2 | g.215404331G>A | CA2607403507 | FN1 | c.3253+58C>T (n.3253+58C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404331G>T | CA1042244519 | FN1 | c.3253+58C>A (n.3253+58C>A)
| gnomAD v3 gnomAD v4 |
2 | g.215404332C>A | CA2663003735 | FN1 | c.3253+57G>T (n.3253+57G>T)
| gnomAD v4 |
2 | g.215404332C= | CA1327359684 | FN1 | c.3253+57G= (n.3253+57G=)
| |
2 | g.215404332C>G | CA1327359685 | FN1 | c.3253+57G>C (n.3253+57G>C)
| dbSNP |
2 | g.215404332C>T | CA2663003736 | FN1 | c.3253+57G>A (n.3253+57G>A)
| gnomAD v4 |
2 | g.215404333A= | CA1327359686 | FN1 | c.3253+56T= (n.3253+56T=)
| |
2 | g.215404333A>C | CA2663003741 | FN1 | c.3253+56T>G (n.3253+56T>G)
| gnomAD v4 |
2 | g.215404333A>G | CA764567525 | FN1 | c.3253+56T>C (n.3253+56T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404333A>T | CA2577236848 | FN1 | c.3253+56T>A (n.3253+56T>A)
| gnomAD v4 |
2 | g.215404334T>A | CA2663003749 | FN1 | c.3253+55A>T (n.3253+55A>T)
| gnomAD v4 |
2 | g.215404334T>C | CA2663003751 | FN1 | c.3253+55A>G (n.3253+55A>G)
| gnomAD v4 |
2 | g.215404334T>G | CA64868278 | FN1 | c.3253+55A>C (n.3253+55A>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404334T= | CA1327359687 | FN1 | c.3253+55A= (n.3253+55A=)
| |
2 | g.215404335G>T | CA1042244522 | FN1 | c.3253+54C>A (n.3253+54C>A)
| gnomAD v3 gnomAD v4 |
2 | g.215404336A= | CA1327359688 | FN1 | c.3253+53T= (n.3253+53T=)
| |
2 | g.215404336A>G | CA764567536 | FN1 | c.3253+53T>C (n.3253+53T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404336A>T | CA2663003757 | FN1 | c.3253+53T>A (n.3253+53T>A)
| gnomAD v4 |
2 | g.215404337A>C | CA2663003759 | FN1 | c.3253+52T>G (n.3253+52T>G)
| gnomAD v4 |
2 | g.215404337A>G | CA2663003760 | FN1 | c.3253+52T>C (n.3253+52T>C)
| gnomAD v4 |
2 | g.215404338G>A | CA2577236849 | FN1 | c.3253+51C>T (n.3253+51C>T)
| gnomAD v4 |
2 | g.215404338G>T | CA2663003763 | FN1 | c.3253+51C>A (n.3253+51C>A)
| gnomAD v4 |
2 | g.215404339A>T | CA2663003764 | FN1 | c.3253+50T>A (n.3253+50T>A)
| gnomAD v4 |
2 | g.215404340A= | CA1327359689 | FN1 | c.3253+49T= (n.3253+49T=)
| |
2 | g.215404340A>G | CA539545016 | FN1 | c.3253+49T>C (n.3253+49T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404341T>A | CA2663003765 | FN1 | c.3253+48A>T (n.3253+48A>T)
| gnomAD v4 |
2 | g.215404341T>C | CA2663003766 | FN1 | c.3253+48A>G (n.3253+48A>G)
| gnomAD v4 |
2 | g.215404342A>G | CA2663003767 | FN1 | c.3253+47T>C (n.3253+47T>C)
| gnomAD v4 |
2 | g.215404342A>T | CA2663003768 | FN1 | c.3253+47T>A (n.3253+47T>A)
| gnomAD v4 |
2 | g.215404343G>A | CA2663003772 | FN1 | c.3253+46C>T (n.3253+46C>T)
| gnomAD v4 |
2 | g.215404343G>C | CA2094757 | FN1 | c.3253+46C>G (n.3253+46C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.215404343G= | CA1327359690 | FN1 | c.3253+46C= (n.3253+46C=)
| |
2 | g.215404343G>T | CA2663003774 | FN1 | c.3253+46C>A (n.3253+46C>A)
| gnomAD v4 |
2 | g.215404344A= | CA1327359691 | FN1 | c.3253+45T= (n.3253+45T=)
| |
2 | g.215404344A>C | CA2094758 | FN1 | c.3253+45T>G (n.3253+45T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404344A>G | CA2663003778 | FN1 | c.3253+45T>C (n.3253+45T>C)
| gnomAD v4 |
2 | g.215404344A>T | CA2663003779 | FN1 | c.3253+45T>A (n.3253+45T>A)
| gnomAD v4 |
2 | g.215404345G>A | CA764567543 | FN1 | c.3253+44C>T (n.3253+44C>T)
| dbSNP gnomAD v4 |
2 | g.215404345G>C | CA1327359693 | FN1 | c.3253+44C>G (n.3253+44C>G)
| dbSNP gnomAD v4 |
2 | g.215404345G= | CA1327359692 | FN1 | c.3253+44C= (n.3253+44C=)
| |
2 | g.215404345G>T | CA2663003784 | FN1 | c.3253+44C>A (n.3253+44C>A)
| gnomAD v4 |
2 | g.215404346A= | CA1327359694 | FN1 | c.3253+43T= (n.3253+43T=)
| |
2 | g.215404346A>G | CA2663003788 | FN1 | c.3253+43T>C (n.3253+43T>C)
| gnomAD v4 |
2 | g.215404346A>T | CA2094759 | FN1 | c.3253+43T>A (n.3253+43T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404347A>C | CA2663003790 | FN1 | c.3253+42T>G (n.3253+42T>G)
| gnomAD v4 |
2 | g.215404348T>A | CA2663003793 | FN1 | c.3253+41A>T (n.3253+41A>T)
| gnomAD v4 |
2 | g.215404348T>C | CA2094760 | FN1 | c.3253+41A>G (n.3253+41A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215404348T= | CA1327359695 | FN1 | c.3253+41A= (n.3253+41A=)
| |
2 | g.215404349G>A | CA539545017 | FN1 | c.3253+40C>T (n.3253+40C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.215404349G= | CA1327359696 | FN1 | c.3253+40C= (n.3253+40C=)
| |
2 | g.215404349G>T | CA2663003798 | FN1 | c.3253+40C>A (n.3253+40C>A)
| gnomAD v4 |
2 | g.215404350T>C | CA2663003801 | FN1 | c.3253+39A>G (n.3253+39A>G)
| gnomAD v4 |
2 | g.215404351A>G | CA2663003804 | FN1 | c.3253+38T>C (n.3253+38T>C)
| gnomAD v4 |
2 | g.215404351A>T | CA2663003805 | FN1 | c.3253+38T>A (n.3253+38T>A)
| gnomAD v4 |
2 | g.215404353del | CA2663003803 | FN1 | c.3253+38del (n.3253+38del)
| gnomAD v4 |
2 | g.215404352A>C | CA2663003808 | FN1 | c.3253+37T>G (n.3253+37T>G)
| gnomAD v4 |
2 | g.215404353A= | CA1327359697 | FN1 | c.3253+36T= (n.3253+36T=)
| |
2 | g.215404353A>G | CA1327359698 | FN1 | c.3253+36T>C (n.3253+36T>C)
| dbSNP gnomAD v4 |
2 | g.215404354T>A | CA2663003809 | FN1 | c.3253+35A>T (n.3253+35A>T)
| gnomAD v4 |
2 | g.215404354T>C | CA2094761 | FN1 | c.3253+35A>G (n.3253+35A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215404354T= | CA1327359699 | FN1 | c.3253+35A= (n.3253+35A=)
| |
2 | g.215404355A>G | CA2663003811 | FN1 | c.3253+34T>C (n.3253+34T>C)
| gnomAD v4 |
2 | g.215404356T>C | CA2094762 | FN1 | c.3253+33A>G (n.3253+33A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404356T= | CA1327359700 | FN1 | c.3253+33A= (n.3253+33A=)
| |
2 | g.215404357_215404358delinsAG | CA1327359701 | FN1 | c.3253+31_3253+32delinsCT (n.3253+31_3253+32delinsCT)
| |
2 | g.215404358del | CA539545018 | FN1 | c.3253+31del (n.3253+31del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404358G>A | CA539545019 | FN1 | c.3253+31C>T (n.3253+31C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.215404358G= | CA1327359702 | FN1 | c.3253+31C= (n.3253+31C=)
| |
2 | g.215404358G>T | CA2663003812 | FN1 | c.3253+31C>A (n.3253+31C>A)
| gnomAD v4 |
2 | g.215404359T>C | CA64868279 | FN1 | c.3253+30A>G (n.3253+30A>G)
| dbSNP |
2 | g.215404359T= | CA1327359703 | FN1 | c.3253+30A= (n.3253+30A=)
| |
2 | g.215404360T>C | CA2663003815 | FN1 | c.3253+29A>G (n.3253+29A>G)
| gnomAD v4 |
2 | g.215404361A>T | CA2663003817 | FN1 | c.3253+28T>A (n.3253+28T>A)
| gnomAD v4 |
2 | g.215404363G>A | CA1042244535 | FN1 | c.3253+26C>T (n.3253+26C>T)
| gnomAD v3 gnomAD v4 |
2 | g.215404363G>T | CA2663003818 | FN1 | c.3253+26C>A (n.3253+26C>A)
| gnomAD v4 |
2 | g.215404364A= | CA1327359704 | FN1 | c.3253+25T= (n.3253+25T=)
| |
2 | g.215404364A>G | CA2094763 | FN1 | c.3253+25T>C (n.3253+25T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404366A= | CA1327359705 | FN1 | c.3253+23T= (n.3253+23T=)
| |
2 | g.215404366A>G | CA64868280 | FN1 | c.3253+23T>C (n.3253+23T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404367A>G | CA2663003821 | FN1 | c.3253+22T>C (n.3253+22T>C)
| gnomAD v4 |
2 | g.215404368G= | CA1327359706 | FN1 | c.3253+21C= (n.3253+21C=)
| |
2 | g.215404368G>T | CA2094764 | FN1 | c.3253+21C>A (n.3253+21C>A)
| dbSNP ExAC gnomAD v2 |
2 | g.215404369G>T | CA2663003822 | FN1 | c.3253+20C>A (n.3253+20C>A)
| gnomAD v4 |
2 | g.215404371A= | CA1327359707 | FN1 | c.3253+18T= (n.3253+18T=)
| |
2 | g.215404371A>C | CA2094765 | FN1 | c.3253+18T>G (n.3253+18T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215404372C>A | CA2581796532 | FN1 | c.3253+17G>T (n.3253+17G>T)
| |
2 | g.215404372C= | CA1327359708 | FN1 | c.3253+17G= (n.3253+17G=)
| |
2 | g.215404372C>G | CA2581796537 | FN1 | c.3253+17G>C (n.3253+17G>C)
| |
2 | g.215404372C>T | CA2094766 | FN1 | c.3253+17G>A (n.3253+17G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404373T>G | CA2663003825 | FN1 | c.3253+16A>C (n.3253+16A>C)
| gnomAD v4 |
2 | g.215404375A= | CA1327359709 | FN1 | c.3253+14T= (n.3253+14T=)
| |
2 | g.215404375A>C | CA1042244539 | FN1 | c.3253+14T>G (n.3253+14T>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404377T>C | CA647694905 | FN1 | c.3253+12A>G (n.3253+12A>G)
| COSMIC COSMIC |
2 | g.215404378T>C | CA2663003828 | FN1 | c.3253+11A>G (n.3253+11A>G)
| gnomAD v4 |
2 | g.215404381C>A | CA2663003829 | FN1 | c.3253+8G>T (n.3253+8G>T)
| gnomAD v4 |
2 | g.215404381C= | CA1327359710 | FN1 | c.3253+8G= (n.3253+8G=)
| |
2 | g.215404381C>T | CA539545020 | FN1 | c.3253+8G>A (n.3253+8G>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.215404382A>G | CA2701535314 | FN1 | c.3253+7T>C (n.3253+7T>C)
| dbSNP |
2 | g.215404384C= | CA1327359711 | FN1 | c.3253+5G= (n.3253+5G=)
| |
2 | g.215404384C>T | CA539545021 | FN1 | c.3253+5G>A (n.3253+5G>A)
| dbSNP gnomAD v2 |
2 | g.215404385T>G | CA764567569 | FN1 | c.3253+4A>C (n.3253+4A>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404385T= | CA1327359712 | FN1 | c.3253+4A= (n.3253+4A=)
| |
2 | g.215404386T>G | CA2663003830 | FN1 | c.3253+3A>C (n.3253+3A>C)
| gnomAD v4 |
2 | g.215404387A= | CA1327359713 | FN1 | c.3253+2T= (n.3253+2T=)
| |
2 | g.215404387A>C | CA350488928 | FN1 | c.3253+2T>G (n.3253+2T>G)
| |
2 | g.215404387A>G | CA350488925 | FN1 | c.3253+2T>C (n.3253+2T>C)
| |
2 | g.215404387A>T | CA350488927 | FN1 | c.3253+2T>A (n.3253+2T>A)
| dbSNP |
2 | g.215404388C>A | CA350488931 | FN1 | c.3253+1G>T (n.3253+1G>T)
| |
2 | g.215404388C>G | CA350488933 | FN1 | c.3253+1G>C (n.3253+1G>C)
| gnomAD v4 |
2 | g.215404388C>T | CA350488934 | FN1 | c.3253+1G>A (n.3253+1G>A)
| gnomAD v4 COSMIC COSMIC |
2 | g.215404389G>A | CA431157760 | FN1 | c.3253C>T (p.Leu1085=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404389G>C | CA350488936 | FN1 | c.3253C>G (p.Leu1085Val)
| dbSNP gnomAD v4 |
2 | g.215404389G= | CA1327359714 | FN1 | c.3253C= (p.Leu1085=)
| |
2 | g.215404389G>T | CA350488938 | FN1 | c.3253C>A (p.Leu1085Met)
| |
2 | g.215404390T>A | CA431157761 | FN1 | c.3252A>T (p.Thr1084=)
| |
2 | g.215404390T>C | CA431157762 | FN1 | c.3252A>G (p.Thr1084=)
| |
2 | g.215404390T>G | CA431157764 | FN1 | c.3252A>C (p.Thr1084=)
| dbSNP |
2 | g.215404391G>A | CA350488943 | FN1 | c.3251C>T (p.Thr1084Ile)
| |
2 | g.215404391G>C | CA350488942 | FN1 | c.3251C>G (p.Thr1084Arg)
| gnomAD v4 |
2 | g.215404391G>T | CA350488940 | FN1 | c.3251C>A (p.Thr1084Lys)
| |
2 | g.215404392T>A | CA350488946 | FN1 | c.3250A>T (p.Thr1084Ser)
| |
2 | g.215404392T>C | CA350488947 | FN1 | c.3250A>G (p.Thr1084Ala)
| |
2 | g.215404392T>G | CA350488949 | FN1 | c.3250A>C (p.Thr1084Pro)
| |
2 | g.215404393G>A | CA431157765 | FN1 | c.3249C>T (p.Thr1083=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404393G>C | CA431157766 | FN1 | c.3249C>G (p.Thr1083=)
| |
2 | g.215404393G= | CA1327359715 | FN1 | c.3249C= (p.Thr1083=)
| |
2 | g.215404393G>T | CA431157767 | FN1 | c.3249C>A (p.Thr1083=)
| |
2 | g.215404394G>A | CA350488951 | FN1 | c.3248C>T (p.Thr1083Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404394G>C | CA350488953 | FN1 | c.3248C>G (p.Thr1083Ser)
| |
2 | g.215404394G= | CA1327359716 | FN1 | c.3248C= (p.Thr1083=)
| |
2 | g.215404394G>T | CA350488955 | FN1 | c.3248C>A (p.Thr1083Asn)
| dbSNP |
2 | g.215404395T>A | CA350488960 | FN1 | c.3247A>T (p.Thr1083Ser)
| |
2 | g.215404395T>C | CA350488956 | FN1 | c.3247A>G (p.Thr1083Ala)
| |
2 | g.215404395T>G | CA350488958 | FN1 | c.3247A>C (p.Thr1083Pro)
| gnomAD v4 |
2 | g.215404396A= | CA1327359717 | FN1 | c.3246T= (p.Phe1082=)
| |
2 | g.215404396A>C | CA350488962 | FN1 | c.3246T>G (p.Phe1082Leu)
| |
2 | g.215404396A>G | CA431157769 | FN1 | c.3246T>C (p.Phe1082=)
| dbSNP |
2 | g.215404396A>T | CA350488964 | FN1 | c.3246T>A (p.Phe1082Leu)
| |
2 | g.215404398del | CA2754215072 | FN1 | c.3246del (p.Phe1082LeufsTer17)
| |
2 | g.215404397_215404400dup | CA2663003847 | FN1 | c.3243_3246dup (p.Thr1083LeufsTer19)
| gnomAD v4 |
2 | g.215404397A>C | CA350488965 | FN1 | c.3245T>G (p.Phe1082Cys)
| |
2 | g.215404397A>G | CA350488966 | FN1 | c.3245T>C (p.Phe1082Ser)
| |
2 | g.215404397A>T | CA350488967 | FN1 | c.3245T>A (p.Phe1082Tyr)
| |
2 | g.215404398A>C | CA350488969 | FN1 | c.3244T>G (p.Phe1082Val)
| |
2 | g.215404398A>G | CA350488971 | FN1 | c.3244T>C (p.Phe1082Leu)
| |
2 | g.215404398A>T | CA350488973 | FN1 | c.3244T>A (p.Phe1082Ile)
| |
2 | g.215404399G>A | CA431157773 | FN1 | c.3243C>T (p.Val1081=)
| |
2 | g.215404399G>C | CA431157774 | FN1 | c.3243C>G (p.Val1081=)
| gnomAD v4 |
2 | g.215404399G= | CA1327359718 | FN1 | c.3243C= (p.Val1081=)
| |
2 | g.215404399G>T | CA2094767 | FN1 | c.3243C>A (p.Val1081=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215404400A>C | CA350488976 | FN1 | c.3242T>G (p.Val1081Gly)
| |
2 | g.215404400A>G | CA350488978 | FN1 | c.3242T>C (p.Val1081Ala)
| gnomAD v4 |
2 | g.215404400A>T | CA350488979 | FN1 | c.3242T>A (p.Val1081Asp)
| COSMIC COSMIC |
2 | g.215404401C>A | CA350488982 | FN1 | c.3241G>T (p.Val1081Phe)
| |
2 | g.215404401C>G | CA350488986 | FN1 | c.3241G>C (p.Val1081Leu)
| |
2 | g.215404401C>T | CA350488984 | FN1 | c.3241G>A (p.Val1081Ile)
| |
2 | g.215404402T>A | CA431157778 | FN1 | c.3240A>T (p.Gly1080=)
| |
2 | g.215404402T>C | CA2094768 | FN1 | c.3240A>G (p.Gly1080=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215404402T>G | CA431157779 | FN1 | c.3240A>C (p.Gly1080=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.215404402T= | CA1327359719 | FN1 | c.3240A= (p.Gly1080=)
| |
2 | g.215404403C>A | CA350488988 | FN1 | c.3239G>T (p.Gly1080Val)
| |
2 | g.215404403C>G | CA350488990 | FN1 | c.3239G>C (p.Gly1080Ala)
| |
2 | g.215404403C>T | CA350488992 | FN1 | c.3239G>A (p.Gly1080Glu)
| |
2 | g.215404404C>A | CA350488994 | FN1 | c.3238G>T (p.Gly1080Ter)
| |
2 | g.215404404C>G | CA350488996 | FN1 | c.3238G>C (p.Gly1080Arg)
| |
2 | g.215404404C>T | CA350488997 | FN1 | c.3238G>A (p.Gly1080Arg)
| |
2 | g.215404405A>C | CA431157784 | FN1 | c.3237T>G (p.Thr1079=)
| |
2 | g.215404405A>G | CA431157785 | FN1 | c.3237T>C (p.Thr1079=)
| |
2 | g.215404405A>T | CA431157786 | FN1 | c.3237T>A (p.Thr1079=)
| |
2 | g.215404406G>A | CA350488998 | FN1 | c.3236C>T (p.Thr1079Ile)
| gnomAD v4 |
2 | g.215404406G>C | CA350489000 | FN1 | c.3236C>G (p.Thr1079Ser)
| |
2 | g.215404406G= | CA1327359720 | FN1 | c.3236C= (p.Thr1079=)
| |
2 | g.215404406G>T | CA350489001 | FN1 | c.3236C>A (p.Thr1079Asn)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.215404407T>A | CA350489003 | FN1 | c.3235A>T (p.Thr1079Ser)
| |
2 | g.215404407T>C | CA350489005 | FN1 | c.3235A>G (p.Thr1079Ala)
| |
2 | g.215404407T>G | CA350489006 | FN1 | c.3235A>C (p.Thr1079Pro)
| |
2 | g.215404408G>A | CA431157787 | FN1 | c.3234C>T (p.Ala1078=)
| |
2 | g.215404408G>C | CA431157790 | FN1 | c.3234C>G (p.Ala1078=)
| |
2 | g.215404408G>T | CA431157791 | FN1 | c.3234C>A (p.Ala1078=)
| |
2 | g.215404409G>A | CA2094769 | FN1 | c.3233C>T (p.Ala1078Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215404409G>C | CA350489009 | FN1 | c.3233C>G (p.Ala1078Gly)
| |
2 | g.215404409G= | CA1327359721 | FN1 | c.3233C= (p.Ala1078=)
| |
2 | g.215404409G>T | CA350489007 | FN1 | c.3233C>A (p.Ala1078Asp)
| |
2 | g.215404410C>A | CA350489013 | FN1 | c.3232G>T (p.Ala1078Ser)
| |
2 | g.215404410C= | CA1327359722 | FN1 | c.3232G= (p.Ala1078=)
| |
2 | g.215404410C>G | CA350489014 | FN1 | c.3232G>C (p.Ala1078Pro)
| |
2 | g.215404410C>T | CA64868281 | FN1 | c.3232G>A (p.Ala1078Thr)
| dbSNP gnomAD v3 gnomAD v4 |