20 | g.3082894_3082910del | CA2651674522 | AVP | c.322+72_323-87del (n.322+72_323-87del)
| gnomAD v4 |
20 | g.3082898_3082955del | CA2651674526 | AVP | c.322+29_322+86del (n.322+29_322+86del)
| gnomAD v4 |
20 | g.3082892_3082939del | CA2651674529 | AVP | c.322+38_322+85del (n.322+38_322+85del)
| gnomAD v4 |
20 | g.3082897_3082914del | CA2525681648 | AVP | c.322+67_322+84del (n.322+67_322+84del)
| |
20 | g.3082899_3082946del | CA2651674533 | AVP | c.322+37_322+84del (n.322+37_322+84del)
| gnomAD v4 |
20 | g.3082903_3082929del | CA2651674538 | AVP | c.322+57_322+83del (n.322+57_322+83del)
| gnomAD v4 |
20 | g.3082900_3082950del | CA2651674537 | AVP | c.322+33_322+83del (n.322+33_322+83del)
| gnomAD v4 |
20 | g.3082895_3082909del | CA2651674557 | AVP | c.322+68_322+82del (n.322+68_322+82del)
| gnomAD v4 |
20 | g.3082895_3082910del | CA2651674558 | AVP | c.322+67_322+82del (n.322+67_322+82del)
| gnomAD v4 |
20 | g.3082899_3082945del | CA1014830624 | AVP | c.322+36_322+82del (n.322+36_322+82del)
| gnomAD v3 gnomAD v4 |
20 | g.3082899_3082944del | CA1014830625 | AVP | c.322+36_322+81del (n.322+36_322+81del)
| gnomAD v3 gnomAD v4 |
20 | g.3082899_3082961del | CA2651674562 | AVP | c.322+19_322+81del (n.322+19_322+81del)
| gnomAD v4 |
20 | g.3082899_3082918del | CA1014830630 | AVP | c.322+59_322+78del (n.322+59_322+78del)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082899_3082941del | CA2651674565 | AVP | c.322+36_322+78del (n.322+36_322+78del)
| gnomAD v4 |
20 | g.3082899_3082962del | CA1014830631 | AVP | c.322+15_322+78del (n.322+15_322+78del)
| gnomAD v3 gnomAD v4 |
20 | g.3082909_3082972del | CA1014830634 | AVP | c.322+14_322+77del (n.322+14_322+77del)
| gnomAD v3 gnomAD v4 |
20 | g.3082904_3082944del | CA2651674573 | AVP | c.322+36_322+76del (n.322+36_322+76del)
| gnomAD v4 |
20 | g.3082904_3082920del | CA2651674575 | AVP | c.322+59_322+75del (n.322+59_322+75del)
| gnomAD v4 |
20 | g.3082904_3082943del | CA1014830641 | AVP | c.322+36_322+75del (n.322+36_322+75del)
| gnomAD v3 gnomAD v4 |
20 | g.3082903_3082911delinsCGCCGCAGG | CA2346405437 | AVP | c.322+66_322+74delinsCCTGCGGCG (n.322+66_322+74delinsCCTGCGGCG)
| |
20 | g.3082903_3082918delinsCGCCGCAGGCCCGCGT | CA2346405439 | AVP | c.322+59_322+74delinsACGCGGGCCTGCGGCG (n.322+59_322+74delinsACGCGGGCCTGCGGCG)
| |
20 | g.3082904_3082919del | CA2651674579 | AVP | c.322+59_322+74del (n.322+59_322+74del)
| gnomAD v4 |
20 | g.3082903_3082941delinsCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCG | CA2346405438 | AVP | c.322+36_322+74delinsCGCAGACCGCTTGGGTGGGGGGGACGCGGGCCTGCGGCG (n.322+36_322+74delinsCGCAGACCGCTTGGGTGGGGGGGACGCGGGCCTGCGGCG)
| |
20 | g.3082904_3082942del | CA1014830648 | AVP | c.322+36_322+74del (n.322+36_322+74del)
| gnomAD v3 gnomAD v4 |
20 | g.3082904_3082911del | CA1014830654 | AVP | c.322+66_322+73del (n.322+66_322+73del)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082904_3082918del | CA634328979 | AVP | c.322+59_322+73del (n.322+59_322+73del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082904_3082941del | CA2346405441 | AVP | c.322+36_322+73del (n.322+36_322+73del)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082904_3082951del | CA1014830668 | AVP | c.322+26_322+73del (n.322+26_322+73del)
| gnomAD v3 gnomAD v4 |
20 | g.3082907_3082953del | CA2651674582 | AVP | c.322+27_322+73del (n.322+27_322+73del)
| gnomAD v4 |
20 | g.3082905_3082908del | CA2651674593 | AVP | c.322+69_322+72del (n.322+69_322+72del)
| gnomAD v4 |
20 | g.3082907_3082965del | CA2651674594 | AVP | c.322+14_322+72del (n.322+14_322+72del)
| gnomAD v4 |
20 | g.3082906_3082911delinsCGCAGG | CA2346405445 | AVP | c.322+66_322+71delinsCCTGCG (n.322+66_322+71delinsCCTGCG)
| |
20 | g.3082907_3082911del | CA634328981 | AVP | c.322+66_322+70del (n.322+66_322+70del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082909_3082912del | CA2651674600 | AVP | c.322+67_322+70del (n.322+67_322+70del)
| gnomAD v4 |
20 | g.3082907_3082918del | CA2538726942 | AVP | c.322+59_322+70del (n.322+59_322+70del)
| gnomAD v4 |
20 | g.3082907_3082941del | CA2651674599 | AVP | c.322+36_322+70del (n.322+36_322+70del)
| gnomAD v4 |
20 | g.3082908C= | CA2346405448 | AVP | c.322+69G= (n.322+69G=)
| |
20 | g.3082908C>G | CA2651674611 | AVP | c.322+69G>C (n.322+69G>C)
| gnomAD v4 |
20 | g.3082908C>T | CA2346405450 | AVP | c.322+69G>A (n.322+69G>A)
| dbSNP |
20 | g.3082908_3082909del | CA2651674612 | AVP | c.322+68_322+69del (n.322+68_322+69del)
| gnomAD v4 |
20 | g.3082908_3082911delinsCAGG | CA2346405449 | AVP | c.322+66_322+69delinsCCTG (n.322+66_322+69delinsCCTG)
| |
20 | g.3082917_3082963del | CA1014830676 | AVP | c.322+23_322+69del (n.322+23_322+69del)
| gnomAD v3 gnomAD v4 |
20 | g.3082908_3082909insG | CA2651674613 | AVP | c.322+68_322+69insC (n.322+68_322+69insC)
| gnomAD v4 |
20 | g.3082909del | CA2651674614 | AVP | c.322+68del (n.322+68del)
| gnomAD v4 |
20 | g.3082909A>C | CA1014830679 | AVP | c.322+68T>G (n.322+68T>G)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082909A>G | CA2651674617 | AVP | c.322+68T>C (n.322+68T>C)
| gnomAD v4 |
20 | g.3082909A>T | CA2651674618 | AVP | c.322+68T>A (n.322+68T>A)
| gnomAD v4 |
20 | g.3082909_3082910del | CA2651674615 | AVP | c.322+67_322+68del (n.322+67_322+68del)
| gnomAD v4 |
20 | g.3082909_3082911del | CA1014830677 | AVP | c.322+66_322+68del (n.322+66_322+68del)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082909_3082917del | CA2651674616 | AVP | c.322+60_322+68del (n.322+60_322+68del)
| gnomAD v4 |
20 | g.3082909_3082910insC | CA2651674619 | AVP | c.322+67_322+68insG (n.322+67_322+68insG)
| gnomAD v4 |
20 | g.3082910G>C | CA2651674620 | AVP | c.322+67C>G (n.322+67C>G)
| gnomAD v4 |
20 | g.3082910G>T | CA2651674621 | AVP | c.322+67C>A (n.322+67C>A)
| gnomAD v4 |
20 | g.3082911G>A | CA2651674624 | AVP | c.322+66C>T (n.322+66C>T)
| gnomAD v4 |
20 | g.3082911G>C | CA2651674623 | AVP | c.322+66C>G (n.322+66C>G)
| gnomAD v4 |
20 | g.3082911G>T | CA2651674622 | AVP | c.322+66C>A (n.322+66C>A)
| gnomAD v4 |
20 | g.3082911_3082912insGC | CA2651674632 | AVP | c.322+65_322+66insGC (n.322+65_322+66insGC)
| gnomAD v4 |
20 | g.3082911_3082912insGCC | CA2651674631 | AVP | c.322+65_322+66insGGC (n.322+65_322+66insGGC)
| gnomAD v4 |
20 | g.3082911_3082912insGGC | CA2651674634 | AVP | c.322+65_322+66insGCC (n.322+65_322+66insGCC)
| gnomAD v4 |
20 | g.3082911_3082912insGCCCCCCC | CA2651674630 | AVP | c.322+65_322+66insGGGGGGGC (n.322+65_322+66insGGGGGGGC)
| gnomAD v4 |
20 | g.3082912C>A | CA2651674627 | AVP | c.322+65G>T (n.322+65G>T)
| gnomAD v4 |
20 | g.3082912C>G | CA2651674626 | AVP | c.322+65G>C (n.322+65G>C)
| gnomAD v4 |
20 | g.3082912C>T | CA2651674625 | AVP | c.322+65G>A (n.322+65G>A)
| gnomAD v4 |
20 | g.3082914dup | CA2651674629 | AVP | c.322+65dup (n.322+65dup)
| gnomAD v4 |
20 | g.3082912_3082914dup | CA2651674633 | AVP | c.322+63_322+65dup (n.322+63_322+65dup)
| gnomAD v4 |
20 | g.3082915_3082925del | CA2651674628 | AVP | c.322+55_322+65del (n.322+55_322+65del)
| gnomAD v4 |
20 | g.3082912_3082913insA | CA2651674635 | AVP | c.322+64_322+65insT (n.322+64_322+65insT)
| gnomAD v4 |
20 | g.3082913C>A | CA1014830683 | AVP | c.322+64G>T (n.322+64G>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082913C= | CA2346405451 | AVP | c.322+64G= (n.322+64G=)
| |
20 | g.3082913C>T | CA2651674636 | AVP | c.322+64G>A (n.322+64G>A)
| gnomAD v4 |
20 | g.3082914C>A | CA2509157486 | AVP | c.322+63G>T (n.322+63G>T)
| |
20 | g.3082914C>G | CA2651674637 | AVP | c.322+63G>C (n.322+63G>C)
| gnomAD v4 |
20 | g.3082914C>T | CA2651674638 | AVP | c.322+63G>A (n.322+63G>A)
| gnomAD v4 |
20 | g.3082914_3082918delinsCGCGT | CA2346405453 | AVP | c.322+59_322+63delinsACGCG (n.322+59_322+63delinsACGCG)
| |
20 | g.3082914_3082938delinsCGCGTCCCCCCCACCCAAGCGGTCT | CA2346405452 | AVP | c.322+39_322+63delinsAGACCGCTTGGGTGGGGGGGACGCG (n.322+39_322+63delinsAGACCGCTTGGGTGGGGGGGACGCG)
| |
20 | g.3082914_3082915insCG | CA2651674643 | AVP | c.322+62_322+63insCG (n.322+62_322+63insCG)
| gnomAD v4 |
20 | g.3082914_3082915insCCCG | CA2651674647 | AVP | c.322+62_322+63insCGGG (n.322+62_322+63insCGGG)
| gnomAD v4 |
20 | g.3082914_3082915insCCGG | CA2651674644 | AVP | c.322+62_322+63insCCGG (n.322+62_322+63insCCGG)
| gnomAD v4 |
20 | g.3082914_3082915insCGGG | CA2651674642 | AVP | c.322+62_322+63insCCCG (n.322+62_322+63insCCCG)
| gnomAD v4 |
20 | g.3082914_3082915insCCCGG | CA2651674646 | AVP | c.322+62_322+63insCCGGG (n.322+62_322+63insCCGGG)
| gnomAD v4 |
20 | g.3082914_3082915insCCCGGG | CA2651674645 | AVP | c.322+62_322+63insCCCGGG (n.322+62_322+63insCCCGGG)
| gnomAD v4 |
20 | g.3082915del | CA2651674639 | AVP | c.322+62del (n.322+62del)
| gnomAD v4 |
20 | g.3082915G>A | CA2651674640 | AVP | c.322+62C>T (n.322+62C>T)
| gnomAD v4 |
20 | g.3082915G>C | CA1014830691 | AVP | c.322+62C>G (n.322+62C>G)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082915G= | CA2346405454 | AVP | c.322+62C= (n.322+62C=)
| |
20 | g.3082915G>T | CA2577323014 | AVP | c.322+62C>A (n.322+62C>A)
| gnomAD v4 |
20 | g.3082915_3082918del | CA1014830687 | AVP | c.322+59_322+62del (n.322+59_322+62del)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082915_3082941del | CA2651674641 | AVP | c.322+36_322+62del (n.322+36_322+62del)
| gnomAD v4 |
20 | g.3082918_3082941del | CA310943092 | AVP | c.322+39_322+62del (n.322+39_322+62del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082915_3082916insT | CA2651674648 | AVP | c.322+61_322+62insA (n.322+61_322+62insA)
| gnomAD v4 |
20 | g.3082916del | CA2651674649 | AVP | c.322+61del (n.322+61del)
| gnomAD v4 |
20 | g.3082916C>G | CA2544040976 | AVP | c.322+61G>C (n.322+61G>C)
| gnomAD v4 |
20 | g.3082916C>T | CA2651674651 | AVP | c.322+61G>A (n.322+61G>A)
| gnomAD v4 |
20 | g.3082917_3082919del | CA2651674650 | AVP | c.322+59_322+61del (n.322+59_322+61del)
| gnomAD v4 |
20 | g.3082916_3082917insCCCCCG | CA2651674657 | AVP | c.322+60_322+61insCGGGGG (n.322+60_322+61insCGGGGG)
| dbSNP gnomAD v4 |
20 | g.3082916_3082917insCCCCGGG | CA2651674655 | AVP | c.322+60_322+61insCCCGGGG (n.322+60_322+61insCCCGGGG)
| gnomAD v4 |
20 | g.3082916_3082917insCCCCCGGG | CA2651674656 | AVP | c.322+60_322+61insCCCGGGGG (n.322+60_322+61insCCCGGGGG)
| gnomAD v4 |
20 | g.3082916_3082917insCAACCCGTG | CA2651674659 | AVP | c.322+60_322+61insCACGGGTTG (n.322+60_322+61insCACGGGTTG)
| gnomAD v4 |
20 | g.3082917del | CA2651674658 | AVP | c.322+60del (n.322+60del)
| gnomAD v4 |
20 | g.3082917G>A | CA2651674654 | AVP | c.322+60C>T (n.322+60C>T)
| gnomAD v4 |
20 | g.3082917G>C | CA2651674653 | AVP | c.322+60C>G (n.322+60C>G)
| gnomAD v4 |
20 | g.3082917G= | CA2346405455 | AVP | c.322+60C= (n.322+60C=)
| |
20 | g.3082917G>T | CA2651674652 | AVP | c.322+60C>A (n.322+60C>A)
| gnomAD v4 |
20 | g.3082917_3082918del | CA1014830694 | AVP | c.322+59_322+60del (n.322+59_322+60del)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082917_3082918delinsGT | CA2346405456 | AVP | c.322+59_322+60delinsAC (n.322+59_322+60delinsAC)
| |
20 | g.3082917_3082918insC | CA2346405459 | AVP | c.322+59_322+60insG (n.322+59_322+60insG)
| dbSNP |
20 | g.3082917_3082918insGGGC | CA2651674662 | AVP | c.322+59_322+60insGCCC (n.322+59_322+60insGCCC)
| gnomAD v4 |
20 | g.3082917_3082918insGACCC | CA2651674664 | AVP | c.322+59_322+60insGGGTC (n.322+59_322+60insGGGTC)
| gnomAD v4 |
20 | g.3082917_3082918insGGCCC | CA2651674663 | AVP | c.322+59_322+60insGGGCC (n.322+59_322+60insGGGCC)
| gnomAD v4 |
20 | g.3082918del | CA2346405458 | AVP | c.322+59del (n.322+59del)
| dbSNP gnomAD v4 |
20 | g.3082918T>C | CA634328983 | AVP | c.322+59A>G (n.322+59A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082918T>G | CA1014830700 | AVP | c.322+59A>C (n.322+59A>C)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082918T= | CA2346405460 | AVP | c.322+59A= (n.322+59A=)
| |
20 | g.3082918_3082919del | CA2651674661 | AVP | c.322+58_322+59del (n.322+58_322+59del)
| gnomAD v4 |
20 | g.3082918_3082919delinsTC | CA2346405457 | AVP | c.322+58_322+59delinsGA (n.322+58_322+59delinsGA)
| |
20 | g.3082918_3082924del | CA2651674660 | AVP | c.322+53_322+59del (n.322+53_322+59del)
| gnomAD v4 |
20 | g.3082918_3082919insG | CA2651674665 | AVP | c.322+58_322+59insC (n.322+58_322+59insC)
| gnomAD v4 |
20 | g.3082918_3082919insGC | CA2651674674 | AVP | c.322+58_322+59insGC (n.322+58_322+59insGC)
| gnomAD v4 |
20 | g.3082918_3082919insGCCCC | CA2651674673 | AVP | c.322+58_322+59insGGGGC (n.322+58_322+59insGGGGC)
| gnomAD v4 |
20 | g.3082919C>A | CA634328985 | AVP | c.322+58G>T (n.322+58G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082919C= | CA2346405461 | AVP | c.322+58G= (n.322+58G=)
| |
20 | g.3082919C>G | CA2651674666 | AVP | c.322+58G>C (n.322+58G>C)
| gnomAD v4 |
20 | g.3082919C>T | CA1014830704 | AVP | c.322+58G>A (n.322+58G>A)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082919_3082920insTGCGCCCCCC | CA2651674675 | AVP | c.322+58_322+59insGGGGGCGCAG (n.322+58_322+59insGGGGGCGCAG)
| gnomAD v4 |
20 | g.3082925_3082926insCCCCCCCCCCCGCCCCCCCCCCCC | CA2651674676 | AVP | c.322+58_322+59insGGGGGCGGGGGGGGGGGGGGGGGG (n.322+58_322+59insGGGGGCGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
20 | g.3082925dup | CA634328984 | AVP | c.322+58dup (n.322+58dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082921_3082925dup | CA2651674677 | AVP | c.322+54_322+58dup (n.322+54_322+58dup)
| gnomAD v4 |
20 | g.3082925del | CA743329915 | AVP | c.322+58del (n.322+58del)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082922_3082925del | CA2651674672 | AVP | c.322+55_322+58del (n.322+55_322+58del)
| gnomAD v4 |
20 | g.3082926_3082948del | CA2815070592 | AVP | c.322+36_322+58del (n.322+36_322+58del)
| |
20 | g.3082927_3082950del | CA2651674671 | AVP | c.322+35_322+58del (n.322+35_322+58del)
| gnomAD v4 |
20 | g.3082924_3082967del | CA2651674670 | AVP | c.322+15_322+58del (n.322+15_322+58del)
| gnomAD v4 |
20 | g.3082923_3082967del | CA2651674669 | AVP | c.322+14_322+58del (n.322+14_322+58del)
| gnomAD v4 |
20 | g.3082922_3082967del | CA2651674668 | AVP | c.322+13_322+58del (n.322+13_322+58del)
| gnomAD v4 |
20 | g.3082921_3082967del | CA2651674667 | AVP | c.322+12_322+58del (n.322+12_322+58del)
| gnomAD v4 |
20 | g.3082920C= | CA2346405463 | AVP | c.322+57G= (n.322+57G=)
| |
20 | g.3082920C>G | CA2346405462 | AVP | c.322+57G>C (n.322+57G>C)
| dbSNP |
20 | g.3082920C>T | CA2577323015 | AVP | c.322+57G>A (n.322+57G>A)
| gnomAD v4 |
20 | g.3082926_3082947dup | CA2651674678 | AVP | c.322+36_322+57dup (n.322+36_322+57dup)
| gnomAD v4 |
20 | g.3082926_3082947del | CA2651674679 | AVP | c.322+36_322+57del (n.322+36_322+57del)
| gnomAD v4 |
20 | g.3082920_3082921insGGGG | CA2651674681 | AVP | c.322+56_322+57insCCCC (n.322+56_322+57insCCCC)
| gnomAD v4 |
20 | g.3082921C>A | CA2559126156 | AVP | c.322+56G>T (n.322+56G>T)
| gnomAD v4 |
20 | g.3082921C>T | CA2651674680 | AVP | c.322+56G>A (n.322+56G>A)
| gnomAD v4 |
20 | g.3082922_3082923insGGGGCC | CA2651674682 | AVP | c.322+56_322+57insCCCCGG (n.322+56_322+57insCCCCGG)
| gnomAD v4 |
20 | g.3082922C>A | CA2651674683 | AVP | c.322+55G>T (n.322+55G>T)
| gnomAD v4 |
20 | g.3082922C>T | CA2651674684 | AVP | c.322+55G>A (n.322+55G>A)
| gnomAD v4 |
20 | g.3082926_3082945del | CA1014830710 | AVP | c.322+36_322+55del (n.322+36_322+55del)
| gnomAD v3 gnomAD v4 |
20 | g.3082923C>A | CA2577323016 | AVP | c.322+54G>T (n.322+54G>T)
| gnomAD v4 |
20 | g.3082923C= | CA2346405464 | AVP | c.322+54G= (n.322+54G=)
| |
20 | g.3082923C>G | CA2346405465 | AVP | c.322+54G>C (n.322+54G>C)
| dbSNP gnomAD v4 |
20 | g.3082923C>T | CA743329921 | AVP | c.322+54G>A (n.322+54G>A)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082923_3082924insGGGGC | CA2651674685 | AVP | c.322+54_322+55insCCCCG (n.322+54_322+55insCCCCG)
| gnomAD v4 |
20 | g.3082927_3082930del | CA2651674686 | AVP | c.322+51_322+54del (n.322+51_322+54del)
| gnomAD v4 |
20 | g.3082924_3082933del | CA2651674687 | AVP | c.322+45_322+54del (n.322+45_322+54del)
| gnomAD v4 |
20 | g.3082926_3082944del | CA1014830714 | AVP | c.322+36_322+54del (n.322+36_322+54del)
| gnomAD v3 gnomAD v4 |
20 | g.3082923_3082924insGG | CA2651674695 | AVP | c.322+53_322+54insCC (n.322+53_322+54insCC)
| gnomAD v4 |
20 | g.3082923_3082924insGGG | CA2651674694 | AVP | c.322+53_322+54insCCC (n.322+53_322+54insCCC)
| gnomAD v4 |
20 | g.3082924C>A | CA2651674688 | AVP | c.322+53G>T (n.322+53G>T)
| gnomAD v4 |
20 | g.3082924C>G | CA2651674690 | AVP | c.322+53G>C (n.322+53G>C)
| gnomAD v4 |
20 | g.3082924C>T | CA2651674689 | AVP | c.322+53G>A (n.322+53G>A)
| gnomAD v4 |
20 | g.3082924_3082931del | CA2651674693 | AVP | c.322+46_322+53del (n.322+46_322+53del)
| gnomAD v4 |
20 | g.3082925_3082933del | CA2651674692 | AVP | c.322+45_322+53del (n.322+45_322+53del)
| gnomAD v4 |
20 | g.3082926_3082943del | CA2651674696 | AVP | c.322+36_322+53del (n.322+36_322+53del)
| gnomAD v4 |
20 | g.3082926_3082960del | CA2651674691 | AVP | c.322+19_322+53del (n.322+19_322+53del)
| gnomAD v4 |
20 | g.3082925C>A | CA310943094 | AVP | c.322+52G>T (n.322+52G>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082925C= | CA2346405466 | AVP | c.322+52G= (n.322+52G=)
| |
20 | g.3082925C>G | CA310943097 | AVP | c.322+52G>C (n.322+52G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082925C>T | CA2346405467 | AVP | c.322+52G>A (n.322+52G>A)
| dbSNP gnomAD v4 |
20 | g.3082925_3082930del | CA2651674700 | AVP | c.322+47_322+52del (n.322+47_322+52del)
| gnomAD v4 |
20 | g.3082926_3082933del | CA2651674699 | AVP | c.322+45_322+52del (n.322+45_322+52del)
| gnomAD v4 |
20 | g.3082926_3082942del | CA2651674698 | AVP | c.322+36_322+52del (n.322+36_322+52del)
| gnomAD v4 |
20 | g.3082926_3082952del | CA1014830720 | AVP | c.322+26_322+52del (n.322+26_322+52del)
| gnomAD v3 gnomAD v4 |
20 | g.3082926_3082959del | CA2651674697 | AVP | c.322+19_322+52del (n.322+19_322+52del)
| gnomAD v4 |
20 | g.3082925_3082926insG | CA2651674702 | AVP | c.322+51_322+52insC (n.322+51_322+52insC)
| gnomAD v4 |
20 | g.3082925_3082926insGG | CA2651674709 | AVP | c.322+51_322+52insCC (n.322+51_322+52insCC)
| gnomAD v4 |
20 | g.3082926del | CA2651674708 | AVP | c.322+51del (n.322+51del)
| gnomAD v4 |
20 | g.3082926A= | CA2346405468 | AVP | c.322+51T= (n.322+51T=)
| |
20 | g.3082926A>C | CA9739426 | AVP | c.322+51T>G (n.322+51T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082926A>G | CA1014830727 | AVP | c.322+51T>C (n.322+51T>C)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082926A>T | CA2651674701 | AVP | c.322+51T>A (n.322+51T>A)
| gnomAD v4 |
20 | g.3082926dup | CA2651674710 | AVP | c.322+51dup (n.322+51dup)
| gnomAD v4 |
20 | g.3082926_3082931del | CA2651674707 | AVP | c.322+46_322+51del (n.322+46_322+51del)
| gnomAD v4 |
20 | g.3082926_3082932del | CA2651674706 | AVP | c.322+45_322+51del (n.322+45_322+51del)
| gnomAD v4 |
20 | g.3082926_3082938del | CA2651674705 | AVP | c.322+39_322+51del (n.322+39_322+51del)
| gnomAD v4 |
20 | g.3082926_3082939del | CA2531917009 | AVP | c.322+38_322+51del (n.322+38_322+51del)
| gnomAD v4 |
20 | g.3082926_3082941del | CA1014830726 | AVP | c.322+36_322+51del (n.322+36_322+51del)
| gnomAD v3 gnomAD v4 |
20 | g.3082926_3082951del | CA2651674704 | AVP | c.322+26_322+51del (n.322+26_322+51del)
| gnomAD v4 |
20 | g.3082926_3082962del | CA2651674703 | AVP | c.322+15_322+51del (n.322+15_322+51del)
| gnomAD v4 |
20 | g.3082927C>A | CA1014830729 | AVP | c.322+50G>T (n.322+50G>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082927C= | CA2346405469 | AVP | c.322+50G= (n.322+50G=)
| |
20 | g.3082927C>G | CA2651674712 | AVP | c.322+50G>C (n.322+50G>C)
| gnomAD v4 |
20 | g.3082927C>T | CA2651674713 | AVP | c.322+50G>A (n.322+50G>A)
| gnomAD v4 |
20 | g.3082927_3082933del | CA2651674711 | AVP | c.322+44_322+50del (n.322+44_322+50del)
| gnomAD v4 |
20 | g.3082927_3082940del | CA2549216633 | AVP | c.322+37_322+50del (n.322+37_322+50del)
| |
20 | g.3082928C>A | CA2651674714 | AVP | c.322+49G>T (n.322+49G>T)
| gnomAD v4 |
20 | g.3082928C= | CA2346405470 | AVP | c.322+49G= (n.322+49G=)
| |
20 | g.3082928C>G | CA2346405471 | AVP | c.322+49G>C (n.322+49G>C)
| dbSNP gnomAD v4 |
20 | g.3082929C>A | CA2651674715 | AVP | c.322+48G>T (n.322+48G>T)
| gnomAD v4 |
20 | g.3082929C>T | CA2651674716 | AVP | c.322+48G>A (n.322+48G>A)
| gnomAD v4 |
20 | g.3082930_3082942del | CA2651674717 | AVP | c.322+36_322+48del (n.322+36_322+48del)
| gnomAD v4 |
20 | g.3082930A= | CA2346405472 | AVP | c.322+47T= (n.322+47T=)
| |
20 | g.3082930A>C | CA1014830751 | AVP | c.322+47T>G (n.322+47T>G)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082930A>G | CA2651674724 | AVP | c.322+47T>C (n.322+47T>C)
| gnomAD v4 |
20 | g.3082930_3082931del | CA2651674719 | AVP | c.322+46_322+47del (n.322+46_322+47del)
| gnomAD v4 |
20 | g.3082931del | CA2651674718 | AVP | c.322+47del (n.322+47del)
| gnomAD v4 |
20 | g.3082930_3082932del | CA2651674720 | AVP | c.322+45_322+47del (n.322+45_322+47del)
| gnomAD v4 |
20 | g.3082930_3082938del | CA2651674721 | AVP | c.322+39_322+47del (n.322+39_322+47del)
| gnomAD v4 |
20 | g.3082930_3082939del | CA2651674722 | AVP | c.322+38_322+47del (n.322+38_322+47del)
| gnomAD v4 |
20 | g.3082930_3082941del | CA2651674723 | AVP | c.322+36_322+47del (n.322+36_322+47del)
| gnomAD v4 |
20 | g.3082931A>C | CA2577323017 | AVP | c.322+46T>G (n.322+46T>G)
| gnomAD v3 gnomAD v4 |
20 | g.3082931A>G | CA2651674725 | AVP | c.322+46T>C (n.322+46T>C)
| gnomAD v4 |
20 | g.3082931A>T | CA2651674726 | AVP | c.322+46T>A (n.322+46T>A)
| gnomAD v4 |
20 | g.3082932del | CA2651674727 | AVP | c.322+45del (n.322+45del)
| gnomAD v4 |
20 | g.3082932G>A | CA2651674729 | AVP | c.322+45C>T (n.322+45C>T)
| gnomAD v4 |
20 | g.3082932G>C | CA2651674730 | AVP | c.322+45C>G (n.322+45C>G)
| gnomAD v4 |
20 | g.3082932G>T | CA2651674728 | AVP | c.322+45C>A (n.322+45C>A)
| gnomAD v4 |
20 | g.3082932_3082941del | CA2815070593 | AVP | c.322+36_322+45del (n.322+36_322+45del)
| |
20 | g.3082933del | CA2651674731 | AVP | c.322+44del (n.322+44del)
| gnomAD v4 |
20 | g.3082933C>A | CA2577323018 | AVP | c.322+44G>T (n.322+44G>T)
| gnomAD v4 |
20 | g.3082933C>G | CA2651674733 | AVP | c.322+44G>C (n.322+44G>C)
| gnomAD v4 |
20 | g.3082933C>T | CA2651674734 | AVP | c.322+44G>A (n.322+44G>A)
| gnomAD v4 |
20 | g.3082934_3082937del | CA2815070594 | AVP | c.322+41_322+44del (n.322+41_322+44del)
| |
20 | g.3082933_3082940del | CA2651674732 | AVP | c.322+37_322+44del (n.322+37_322+44del)
| gnomAD v4 |
20 | g.3082934G>A | CA2651674736 | AVP | c.322+43C>T (n.322+43C>T)
| gnomAD v4 |
20 | g.3082934G>C | CA2651674737 | AVP | c.322+43C>G (n.322+43C>G)
| gnomAD v4 |
20 | g.3082934G>T | CA2651674738 | AVP | c.322+43C>A (n.322+43C>A)
| gnomAD v4 |
20 | g.3082934_3082941del | CA2651674735 | AVP | c.322+36_322+43del (n.322+36_322+43del)
| gnomAD v4 |
20 | g.3082935G>T | CA2651674740 | AVP | c.322+42C>A (n.322+42C>A)
| gnomAD v4 |
20 | g.3082936_3082939del | CA2651674742 | AVP | c.322+39_322+42del (n.322+39_322+42del)
| gnomAD v4 |
20 | g.3082936_3082941del | CA2651674741 | AVP | c.322+37_322+42del (n.322+37_322+42del)
| dbSNP gnomAD v4 |
20 | g.3082936_3082962del | CA2651674739 | AVP | c.322+16_322+42del (n.322+16_322+42del)
| gnomAD v4 |
20 | g.3082936del | CA2651674743 | AVP | c.322+41del (n.322+41del)
| gnomAD v4 |
20 | g.3082936T>A | CA2651674750 | AVP | c.322+41A>T (n.322+41A>T)
| gnomAD v4 |
20 | g.3082936T>C | CA2346405474 | AVP | c.322+41A>G (n.322+41A>G)
| dbSNP gnomAD v4 |
20 | g.3082936T>G | CA1014830757 | AVP | c.322+41A>C (n.322+41A>C)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082936T= | CA2346405473 | AVP | c.322+41A= (n.322+41A=)
| |
20 | g.3082936_3082938del | CA2651674745 | AVP | c.322+39_322+41del (n.322+39_322+41del)
| gnomAD v4 |
20 | g.3082937_3082938del | CA2651674744 | AVP | c.322+40_322+41del (n.322+40_322+41del)
| gnomAD v4 |
20 | g.3082936_3082940del | CA2651674746 | AVP | c.322+37_322+41del (n.322+37_322+41del)
| gnomAD v4 |
20 | g.3082936_3082944del | CA2651674747 | AVP | c.322+33_322+41del (n.322+33_322+41del)
| gnomAD v4 |
20 | g.3082936_3082945del | CA2651674748 | AVP | c.322+32_322+41del (n.322+32_322+41del)
| gnomAD v4 |
20 | g.3082936_3082950del | CA2651674749 | AVP | c.322+27_322+41del (n.322+27_322+41del)
| gnomAD v4 |
20 | g.3082937C>A | CA2346405476 | AVP | c.322+40G>T (n.322+40G>T)
| dbSNP gnomAD v4 |
20 | g.3082937C= | CA2346405475 | AVP | c.322+40G= (n.322+40G=)
| |
20 | g.3082937C>G | CA2651674751 | AVP | c.322+40G>C (n.322+40G>C)
| gnomAD v4 |
20 | g.3082938T>A | CA2577323019 | AVP | c.322+39A>T (n.322+39A>T)
| gnomAD v4 |
20 | g.3082938T>C | CA2651674753 | AVP | c.322+39A>G (n.322+39A>G)
| gnomAD v4 |
20 | g.3082938T>G | CA1014830761 | AVP | c.322+39A>C (n.322+39A>C)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082938T= | CA2346405477 | AVP | c.322+39A= (n.322+39A=)
| |
20 | g.3082938_3082939del | CA2651674752 | AVP | c.322+38_322+39del (n.322+38_322+39del)
| gnomAD v4 |
20 | g.3082939G>C | CA2651674754 | AVP | c.322+38C>G (n.322+38C>G)
| gnomAD v4 |
20 | g.3082939G= | CA2346405478 | AVP | c.322+38C= (n.322+38C=)
| |
20 | g.3082939G>T | CA2577323020 | AVP | c.322+38C>A (n.322+38C>A)
| gnomAD v4 |
20 | g.3082941_3082942dup | CA2346405479 | AVP | c.322+37_322+38dup (n.322+37_322+38dup)
| dbSNP |
20 | g.3082940del | CA2651674755 | AVP | c.322+37del (n.322+37del)
| gnomAD v4 |
20 | g.3082940C>A | CA2346405482 | AVP | c.322+37G>T (n.322+37G>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082940C= | CA2346405481 | AVP | c.322+37G= (n.322+37G=)
| |
20 | g.3082940C>G | CA2651674756 | AVP | c.322+37G>C (n.322+37G>C)
| gnomAD v4 |
20 | g.3082940C>T | CA2577323021 | AVP | c.322+37G>A (n.322+37G>A)
| gnomAD v4 |
20 | g.3082940dup | CA509554598 | AVP | c.322+37dup (n.322+37dup)
| dbSNP gnomAD v4 |
20 | g.3082940_3082941delinsCG | CA2346405480 | AVP | c.322+36_322+37delinsCG (n.322+36_322+37delinsCG)
| |
20 | g.3082940_3082941insA | CA2577323022 | AVP | c.322+36_322+37insT (n.322+36_322+37insT)
| gnomAD v4 |
20 | g.3082940_3082941insT | CA2651674760 | AVP | c.322+36_322+37insA (n.322+36_322+37insA)
| gnomAD v4 |
20 | g.3082941del | CA509554600 | AVP | c.322+36del (n.322+36del)
| dbSNP gnomAD v4 |
20 | g.3082941G>A | CA2651674758 | AVP | c.322+36C>T (n.322+36C>T)
| gnomAD v4 |
20 | g.3082941G>C | CA743329940 | AVP | c.322+36C>G (n.322+36C>G)
| dbSNP gnomAD v4 |
20 | g.3082941G= | CA2346405483 | AVP | c.322+36C= (n.322+36C=)
| |
20 | g.3082941G>T | CA2651674757 | AVP | c.322+36C>A (n.322+36C>A)
| gnomAD v4 |
20 | g.3082941dup | CA2651674761 | AVP | c.322+36dup (n.322+36dup)
| gnomAD v4 |
20 | g.3082941_3082942delinsGC | CA2346405484 | AVP | c.322+35_322+36delinsGC (n.322+35_322+36delinsGC)
| |
20 | g.3082941_3082951del | CA2651674759 | AVP | c.322+26_322+36del (n.322+26_322+36del)
| gnomAD v4 |
20 | g.3082941_3082942insA | CA2651674767 | AVP | c.322+35_322+36insT (n.322+35_322+36insT)
| gnomAD v4 |
20 | g.3082941_3082942insT | CA2651674764 | AVP | c.322+35_322+36insA (n.322+35_322+36insA)
| gnomAD v4 |
20 | g.3082941_3082942insGC | CA2346405486 | AVP | c.322+35_322+36insGC (n.322+35_322+36insGC)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082942C= | CA2346405485 | AVP | c.322+35G= (n.322+35G=)
| |
20 | g.3082942C>T | CA1014830771 | AVP | c.322+35G>A (n.322+35G>A)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082942_3082943insAC | CA2651674769 | AVP | c.322+35_322+36insTG (n.322+35_322+36insTG)
| gnomAD v4 |
20 | g.3082942_3082943insTC | CA310943133 | AVP | c.322+35_322+36insAG (n.322+35_322+36insAG)
| dbSNP gnomAD v4 |
20 | g.3082949_3082950insCCCCCCCCC | CA2651674770 | AVP | c.322+35_322+36insGGGGGGGGG (n.322+35_322+36insGGGGGGGGG)
| gnomAD v4 |
20 | g.3082949_3082950insCCCCCCCCCGGCCCCCCCCCCCC | CA2651674762 | AVP | c.322+35_322+36insGGGGCCGGGGGGGGGGGGGGGGG (n.322+35_322+36insGGGGCCGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
20 | g.3082949_3082950insCCCCCCCCCGCCCCCCCCCCCCCCCC | CA2651674765 | AVP | c.322+35_322+36insGGGGGGGGCGGGGGGGGGGGGGGGGG (n.322+35_322+36insGGGGGGGGCGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
20 | g.3082949dup | CA9739427 | AVP | c.322+35dup (n.322+35dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082948_3082949dup | CA9739428 | AVP | c.322+34_322+35dup (n.322+34_322+35dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082947_3082949dup | CA634328986 | AVP | c.322+33_322+35dup (n.322+33_322+35dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082946_3082949dup | CA634328987 | AVP | c.322+32_322+35dup (n.322+32_322+35dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082943_3082949dup | CA2651674768 | AVP | c.322+29_322+35dup (n.322+29_322+35dup)
| gnomAD v4 |
20 | g.3082942_3082949dup | CA2651674766 | AVP | c.322+28_322+35dup (n.322+28_322+35dup)
| gnomAD v4 |
20 | g.3082949del | CA408061457 | AVP | c.322+35del (n.322+35del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082948_3082949del | CA2651674763 | AVP | c.322+34_322+35del (n.322+34_322+35del)
| gnomAD v4 |
20 | g.3082942_3082943insA | CA310943146 | AVP | c.322+34_322+35insT (n.322+34_322+35insT)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082942_3082943insG | CA743329980 | AVP | c.322+34_322+35insC (n.322+34_322+35insC)
| dbSNP gnomAD v4 |
20 | g.3082942_3082943insT | CA9739429 | AVP | c.322+34_322+35insA (n.322+34_322+35insA)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082943C>A | CA634328989 | AVP | c.322+34G>T (n.322+34G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082943C= | CA2346405487 | AVP | c.322+34G= (n.322+34G=)
| |
20 | g.3082943C>G | CA634328988 | AVP | c.322+34G>C (n.322+34G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082943C>T | CA743329976 | AVP | c.322+34G>A (n.322+34G>A)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082943_3082944insAC | CA920153247 | AVP | c.322+34_322+35insTG (n.322+34_322+35insTG)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082943_3082944insA | CA634328990 | AVP | c.322+33_322+34insT (n.322+33_322+34insT)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082943_3082944insG | CA2651674771 | AVP | c.322+33_322+34insC (n.322+33_322+34insC)
| gnomAD v4 |
20 | g.3082943_3082944insT | CA310943150 | AVP | c.322+33_322+34insA (n.322+33_322+34insA)
| dbSNP gnomAD v4 |
20 | g.3082944C>A | CA2577323023 | AVP | c.322+33G>T (n.322+33G>T)
| gnomAD v4 |
20 | g.3082944C= | CA2346405488 | AVP | c.322+33G= (n.322+33G=)
| |
20 | g.3082944C>G | CA2346405489 | AVP | c.322+33G>C (n.322+33G>C)
| dbSNP gnomAD v4 |
20 | g.3082944C>T | CA743329983 | AVP | c.322+33G>A (n.322+33G>A)
| dbSNP gnomAD v4 |
20 | g.3082944_3082945insA | CA2651674772 | AVP | c.322+32_322+33insT (n.322+32_322+33insT)
| gnomAD v4 |
20 | g.3082944_3082945insG | CA2651674773 | AVP | c.322+32_322+33insC (n.322+32_322+33insC)
| gnomAD v4 |
20 | g.3082944_3082945insT | CA634328991 | AVP | c.322+32_322+33insA (n.322+32_322+33insA)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082945C>A | CA2651674774 | AVP | c.322+32G>T (n.322+32G>T)
| gnomAD v4 |
20 | g.3082945C= | CA2346405490 | AVP | c.322+32G= (n.322+32G=)
| |
20 | g.3082945_3082946insAC | CA743329991 | AVP | c.322+32_322+33insTG (n.322+32_322+33insTG)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082945_3082946insGC | CA743329988 | AVP | c.322+32_322+33insCG (n.322+32_322+33insCG)
| dbSNP |
20 | g.3082945_3082946insA | CA310943159 | AVP | c.322+31_322+32insT (n.322+31_322+32insT)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082945_3082946insG | CA9739430 | AVP | c.322+31_322+32insC (n.322+31_322+32insC)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082945_3082946insT | CA634328992 | AVP | c.322+31_322+32insA (n.322+31_322+32insA)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082946C>A | CA9739431 | AVP | c.322+31G>T (n.322+31G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082946C= | CA2346405491 | AVP | c.322+31G= (n.322+31G=)
| |
20 | g.3082946C>G | CA9739432 | AVP | c.322+31G>C (n.322+31G>C)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
20 | g.3082946C>T | CA2651674775 | AVP | c.322+31G>A (n.322+31G>A)
| gnomAD v4 |
20 | g.3082946_3082947insAC | CA743330002 | AVP | c.322+31_322+32insTG (n.322+31_322+32insTG)
| dbSNP |
20 | g.3082946_3082947insGC | CA2346405492 | AVP | c.322+31_322+32insCG (n.322+31_322+32insCG)
| dbSNP |
20 | g.3082946_3082947insA | CA1014830799 | AVP | c.322+30_322+31insT (n.322+30_322+31insT)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082946_3082947insG | CA310943166 | AVP | c.322+30_322+31insC (n.322+30_322+31insC)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082946_3082947insT | CA2346405494 | AVP | c.322+30_322+31insA (n.322+30_322+31insA)
| dbSNP gnomAD v4 |
20 | g.3082947C>A | CA634328994 | AVP | c.322+30G>T (n.322+30G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082947C= | CA2346405493 | AVP | c.322+30G= (n.322+30G=)
| |
20 | g.3082947C>G | CA310943165 | AVP | c.322+30G>C (n.322+30G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082947C>T | CA634328993 | AVP | c.322+30G>A (n.322+30G>A)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082947_3082948insAC | CA2651674779 | AVP | c.322+30_322+31insTG (n.322+30_322+31insTG)
| gnomAD v4 |
20 | g.3082947_3082948insTC | CA2651674778 | AVP | c.322+30_322+31insAG (n.322+30_322+31insAG)
| gnomAD v4 |
20 | g.3082947_3082950del | CA2651674777 | AVP | c.322+27_322+30del (n.322+27_322+30del)
| dbSNP gnomAD v4 |
20 | g.3082950_3082954dup | CA634328995 | AVP | c.322+26_322+30dup (n.322+26_322+30dup)
| gnomAD v2 gnomAD v4 |
20 | g.3082947_3082956del | CA2651674776 | AVP | c.322+21_322+30del (n.322+21_322+30del)
| gnomAD v4 |
20 | g.3082947_3082948insA | CA634328996 | AVP | c.322+29_322+30insT (n.322+29_322+30insT)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082947_3082948insG | CA9739433 | AVP | c.322+29_322+30insC (n.322+29_322+30insC)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082947_3082948insT | CA310943172 | AVP | c.322+29_322+30insA (n.322+29_322+30insA)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082948C>A | CA2346405497 | AVP | c.322+29G>T (n.322+29G>T)
| dbSNP gnomAD v4 |
20 | g.3082948C= | CA2346405496 | AVP | c.322+29G= (n.322+29G=)
| |
20 | g.3082948C>G | CA1014830804 | AVP | c.322+29G>C (n.322+29G>C)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082948_3082949insGC | CA2346405495 | AVP | c.322+29_322+30insCG (n.322+29_322+30insCG)
| dbSNP gnomAD v4 |
20 | g.3082948_3082949insTC | CA2651674782 | AVP | c.322+29_322+30insAG (n.322+29_322+30insAG)
| gnomAD v4 |
20 | g.3082948_3082950del | CA2651674781 | AVP | c.322+27_322+29del (n.322+27_322+29del)
| gnomAD v4 |
20 | g.3082950_3082953del | CA2651674780 | AVP | c.322+26_322+29del (n.322+26_322+29del)
| gnomAD v4 |
20 | g.3082948_3082956del | CA2542329241 | AVP | c.322+21_322+29del (n.322+21_322+29del)
| |
20 | g.3082948_3082949insA | CA634328997 | AVP | c.322+28_322+29insT (n.322+28_322+29insT)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082948_3082949insG | CA9739434 | AVP | c.322+28_322+29insC (n.322+28_322+29insC)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082948_3082949insT | CA2651674783 | AVP | c.322+28_322+29insA (n.322+28_322+29insA)
| gnomAD v4 |
20 | g.3082949C>A | CA2577323024 | AVP | c.322+28G>T (n.322+28G>T)
| gnomAD v4 |
20 | g.3082949C= | CA2346405498 | AVP | c.322+28G= (n.322+28G=)
| |
20 | g.3082949C>G | CA2651674786 | AVP | c.322+28G>C (n.322+28G>C)
| gnomAD v4 |
20 | g.3082949C>T | CA1014830817 | AVP | c.322+28G>A (n.322+28G>A)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082949_3082950del | CA2651674784 | AVP | c.322+27_322+28del (n.322+27_322+28del)
| gnomAD v4 |
20 | g.3082950_3082952del | CA2815070595 | AVP | c.322+26_322+28del (n.322+26_322+28del)
| |
20 | g.3082950_3082959del | CA2651674785 | AVP | c.322+19_322+28del (n.322+19_322+28del)
| gnomAD v4 |
20 | g.3082950_3082963del | CA2815070596 | AVP | c.322+15_322+28del (n.322+15_322+28del)
| |
20 | g.3082949_3082950insG | CA743330036 | AVP | c.322+27_322+28insC (n.322+27_322+28insC)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082949_3082950insT | CA9739435 | AVP | c.322+27_322+28insA (n.322+27_322+28insA)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3082949_3082950insCA | CA2346405499 | AVP | c.322+27_322+28insTG (n.322+27_322+28insTG)
| dbSNP |
20 | g.3082950A= | CA2346405502 | AVP | c.322+27T= (n.322+27T=)
| |
20 | g.3082950A>C | CA634328998 | AVP | c.322+27T>G (n.322+27T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082950A>G | CA2346405500 | AVP | c.322+27T>C (n.322+27T>C)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082950A>T | CA2651674787 | AVP | c.322+27T>A (n.322+27T>A)
| gnomAD v4 |
20 | g.3082950dup | CA2346405501 | AVP | c.322+27dup (n.322+27dup)
| dbSNP gnomAD v4 |
20 | g.3082950_3082951del | CA2532418669 | AVP | c.322+26_322+27del (n.322+26_322+27del)
| gnomAD v4 |
20 | g.3082950_3082957del | CA2815070597 | AVP | c.322+20_322+27del (n.322+20_322+27del)
| |
20 | g.3082950_3082958del | CA2651674788 | AVP | c.322+19_322+27del (n.322+19_322+27del)
| gnomAD v4 |
20 | g.3082950_3082962del | CA1014830828 | AVP | c.322+15_322+27del (n.322+15_322+27del)
| gnomAD v3 gnomAD v4 |
20 | g.3082951del | CA2815070598 | AVP | c.322+26del (n.322+26del)
| |
20 | g.3082951G>A | CA743330039 | AVP | c.322+26C>T (n.322+26C>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082951G>C | CA2651674789 | AVP | c.322+26C>G (n.322+26C>G)
| dbSNP gnomAD v4 |
20 | g.3082951G= | CA2346405503 | AVP | c.322+26C= (n.322+26C=)
| |
20 | g.3082951G>T | CA2651674790 | AVP | c.322+26C>A (n.322+26C>A)
| gnomAD v4 |
20 | g.3082952C>A | CA2651674791 | AVP | c.322+25G>T (n.322+25G>T)
| gnomAD v4 |
20 | g.3082952C>T | CA2651674792 | AVP | c.322+25G>A (n.322+25G>A)
| gnomAD v4 |
20 | g.3082953_3082955dup | CA2815070600 | AVP | c.322+23_322+25dup (n.322+23_322+25dup)
| |
20 | g.3082952_3082955dup | CA2815070599 | AVP | c.322+22_322+25dup (n.322+22_322+25dup)
| |
20 | g.3082955del | CA2651674794 | AVP | c.322+25del (n.322+25del)
| gnomAD v4 |
20 | g.3082952_3082956del | CA2651674793 | AVP | c.322+21_322+25del (n.322+21_322+25del)
| gnomAD v4 |
20 | g.3082953C>A | CA2651674795 | AVP | c.322+24G>T (n.322+24G>T)
| gnomAD v4 |
20 | g.3082954C>A | CA2651674796 | AVP | c.322+23G>T (n.322+23G>T)
| gnomAD v4 |
20 | g.3082954C= | CA2346405504 | AVP | c.322+23G= (n.322+23G=)
| |
20 | g.3082954C>G | CA1014830841 | AVP | c.322+23G>C (n.322+23G>C)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082954C>T | CA2651674797 | AVP | c.322+23G>A (n.322+23G>A)
| gnomAD v4 |
20 | g.3082955C>A | CA2651674798 | AVP | c.322+22G>T (n.322+22G>T)
| gnomAD v4 |
20 | g.3082955C>T | CA2815070601 | AVP | c.322+22G>A (n.322+22G>A)
| |
20 | g.3082956del | CA2815070602 | AVP | c.322+21del (n.322+21del)
| |
20 | g.3082956A= | CA2346405505 | AVP | c.322+21T= (n.322+21T=)
| |
20 | g.3082956A>C | CA634328999 | AVP | c.322+21T>G (n.322+21T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082956A>G | CA2651674800 | AVP | c.322+21T>C (n.322+21T>C)
| gnomAD v4 |
20 | g.3082956A>T | CA2577323025 | AVP | c.322+21T>A (n.322+21T>A)
| gnomAD v4 |
20 | g.3082956_3082957del | CA2651674801 | AVP | c.322+20_322+21del (n.322+20_322+21del)
| gnomAD v4 |
20 | g.3082956_3082958del | CA2651674799 | AVP | c.322+19_322+21del (n.322+19_322+21del)
| dbSNP gnomAD v4 |
20 | g.3082956_3082962del | CA2502505868 | AVP | c.322+15_322+21del (n.322+15_322+21del)
| gnomAD v4 |
20 | g.3082957G>A | CA2651674803 | AVP | c.322+20C>T (n.322+20C>T)
| gnomAD v4 |
20 | g.3082957G>C | CA2651674804 | AVP | c.322+20C>G (n.322+20C>G)
| gnomAD v4 |
20 | g.3082957G>T | CA2651674805 | AVP | c.322+20C>A (n.322+20C>A)
| gnomAD v4 |
20 | g.3082957_3082962del | CA2651674802 | AVP | c.322+15_322+20del (n.322+15_322+20del)
| gnomAD v4 |
20 | g.3082958G>A | CA2651674806 | AVP | c.322+19C>T (n.322+19C>T)
| gnomAD v4 |
20 | g.3082958G>C | CA2651674807 | AVP | c.322+19C>G (n.322+19C>G)
| gnomAD v4 |
20 | g.3082958G= | CA2346405507 | AVP | c.322+19C= (n.322+19C=)
| |
20 | g.3082958G>T | CA2651674808 | AVP | c.322+19C>A (n.322+19C>A)
| gnomAD v4 |
20 | g.3082958_3082959delinsGC | CA2346405506 | AVP | c.322+18_322+19delinsGC (n.322+18_322+19delinsGC)
| |
20 | g.3082959C>A | CA2651674809 | AVP | c.322+18G>T (n.322+18G>T)
| gnomAD v4 |
20 | g.3082959C= | CA2346405509 | AVP | c.322+18G= (n.322+18G=)
| |
20 | g.3082959C>G | CA2651674810 | AVP | c.322+18G>C (n.322+18G>C)
| gnomAD v4 |
20 | g.3082959C>T | CA634329000 | AVP | c.322+18G>A (n.322+18G>A)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082961del | CA743330047 | AVP | c.322+18del (n.322+18del)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082965_3082970dup | CA2346405508 | AVP | c.322+13_322+18dup (n.322+13_322+18dup)
| dbSNP |
20 | g.3082960C>A | CA2651674811 | AVP | c.322+17G>T (n.322+17G>T)
| gnomAD v4 |
20 | g.3082960C>T | CA2651674812 | AVP | c.322+17G>A (n.322+17G>A)
| gnomAD v4 |
20 | g.3082961C>A | CA2651674814 | AVP | c.322+16G>T (n.322+16G>T)
| gnomAD v4 |
20 | g.3082961C= | CA2346405510 | AVP | c.322+16G= (n.322+16G=)
| |
20 | g.3082961C>G | CA634329001 | AVP | c.322+16G>C (n.322+16G>C)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082961C>T | CA2651674813 | AVP | c.322+16G>A (n.322+16G>A)
| gnomAD v4 |
20 | g.3082962del | CA2651674816 | AVP | c.322+15del (n.322+15del)
| dbSNP gnomAD v4 |
20 | g.3082962G>A | CA2651674815 | AVP | c.322+15C>T (n.322+15C>T)
| gnomAD v4 |
20 | g.3082962G>C | CA634329002 | AVP | c.322+15C>G (n.322+15C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082962G= | CA2346405511 | AVP | c.322+15C= (n.322+15C=)
| |
20 | g.3082962G>T | CA9739436 | AVP | c.322+15C>A (n.322+15C>A)
| dbSNP ExAC gnomAD v4 |
20 | g.3082963C>A | CA2577323026 | AVP | c.322+14G>T (n.322+14G>T)
| gnomAD v4 |
20 | g.3082963C= | CA2346405512 | AVP | c.322+14G= (n.322+14G=)
| |
20 | g.3082963C>T | CA634329003 | AVP | c.322+14G>A (n.322+14G>A)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082967dup | CA2651674819 | AVP | c.322+14dup (n.322+14dup)
| gnomAD v4 |
20 | g.3082964_3082967dup | CA2651674817 | AVP | c.322+11_322+14dup (n.322+11_322+14dup)
| gnomAD v4 |
20 | g.3082967del | CA2651674818 | AVP | c.322+14del (n.322+14del)
| gnomAD v4 |
20 | g.3082964C>A | CA2651674820 | AVP | c.322+13G>T (n.322+13G>T)
| gnomAD v4 |
20 | g.3082964C>T | CA2651674821 | AVP | c.322+13G>A (n.322+13G>A)
| gnomAD v4 |
20 | g.3082965C>A | CA2651674823 | AVP | c.322+12G>T (n.322+12G>T)
| gnomAD v4 |
20 | g.3082965C>T | CA2577323027 | AVP | c.322+12G>A (n.322+12G>A)
| gnomAD v4 |
20 | g.3082970_3083024del | CA2651674822 | AVP | c.280_322+12del
| gnomAD v4 |
20 | g.3082966C>A | CA2651674824 | AVP | c.322+11G>T (n.322+11G>T)
| gnomAD v4 |
20 | g.3082966C>T | CA2651674825 | AVP | c.322+11G>A (n.322+11G>A)
| gnomAD v4 |
20 | g.3082967C>A | CA2651674826 | AVP | c.322+10G>T (n.322+10G>T)
| gnomAD v4 |
20 | g.3082967C= | CA2346405513 | AVP | c.322+10G= (n.322+10G=)
| |
20 | g.3082967C>G | CA2651674827 | AVP | c.322+10G>C (n.322+10G>C)
| gnomAD v4 |
20 | g.3082967C>T | CA634329004 | AVP | c.322+10G>A (n.322+10G>A)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082972_3082996del | CA2651674828 | AVP | c.308_322+10del
| gnomAD v4 |
20 | g.3082968del | CA2514134912 | AVP | c.322+9del (n.322+9del)
| |
20 | g.3082968G>A | CA2651674829 | AVP | c.322+9C>T (n.322+9C>T)
| gnomAD v4 |
20 | g.3082968G>C | CA2536857297 | AVP | c.322+9C>G (n.322+9C>G)
| gnomAD v4 |
20 | g.3082968G>T | CA2651674830 | AVP | c.322+9C>A (n.322+9C>A)
| gnomAD v4 |
20 | g.3082969C>A | CA2651674831 | AVP | c.322+8G>T (n.322+8G>T)
| gnomAD v4 |
20 | g.3082969C>T | CA2577323028 | AVP | c.322+8G>A (n.322+8G>A)
| gnomAD v4 |
20 | g.3082970C>A | CA2651674832 | AVP | c.322+7G>T (n.322+7G>T)
| gnomAD v4 |
20 | g.3082970C>T | CA2577323029 | AVP | c.322+7G>A (n.322+7G>A)
| gnomAD v4 |
20 | g.3082971G>A | CA2651674833 | AVP | c.322+6C>T (n.322+6C>T)
| gnomAD v4 |
20 | g.3082971G>C | CA2651674834 | AVP | c.322+6C>G (n.322+6C>G)
| gnomAD v4 |
20 | g.3082971G>T | CA2651674835 | AVP | c.322+6C>A (n.322+6C>A)
| gnomAD v4 |
20 | g.3082972C>A | CA2651674836 | AVP | c.322+5G>T (n.322+5G>T)
| gnomAD v4 |
20 | g.3082972C= | CA2346405514 | AVP | c.322+5G= (n.322+5G=)
| |
20 | g.3082972C>T | CA634329005 | AVP | c.322+5G>A (n.322+5G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082973G>A | CA2651674837 | AVP | c.322+4C>T (n.322+4C>T)
| gnomAD v4 |
20 | g.3082973G>C | CA2651674838 | AVP | c.322+4C>G (n.322+4C>G)
| gnomAD v4 |
20 | g.3082973G= | CA2346405515 | AVP | c.322+4C= (n.322+4C=)
| |
20 | g.3082973G>T | CA9739437 | AVP | c.322+4C>A (n.322+4C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082974C>A | CA2651674839 | AVP | c.322+3G>T (n.322+3G>T)
| gnomAD v4 |
20 | g.3082974C= | CA2346405516 | AVP | c.322+3G= (n.322+3G=)
| |
20 | g.3082974C>T | CA9739438 | AVP | c.322+3G>A (n.322+3G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3082975A= | CA2346405517 | AVP | c.322+2T= (n.322+2T=)
| |
20 | g.3082975A>C | CA408061458 | AVP | c.322+2T>G (n.322+2T>G)
| ClinVar dbSNP gnomAD v4 |
20 | g.3082975A>G | CA408061459 | AVP | c.322+2T>C (n.322+2T>C)
| |
20 | g.3082975A>T | CA408061460 | AVP | c.322+2T>A (n.322+2T>A)
| |
20 | g.3082976C>A | CA408061461 | AVP | c.322+1G>T (n.322+1G>T)
| gnomAD v4 |
20 | g.3082976C= | CA2346405518 | AVP | c.322+1G= (n.322+1G=)
| |
20 | g.3082976C>G | CA408061462 | AVP | c.322+1G>C (n.322+1G>C)
| |
20 | g.3082976C>T | CA408061463 | AVP | c.322+1G>A (n.322+1G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082977del | CA2695229214 | AVP | c.322+1del
| |
20 | g.3082977C>A | CA408061464 | AVP | c.322G>T (p.Glu108Ter)
| gnomAD v4 |
20 | g.3082977C= | CA2346405519 | AVP | c.322G= (p.Glu108=)
| |
20 | g.3082977C>G | CA408061465 | AVP | c.322G>C (p.Glu108Gln)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082977C>T | CA408061466 | AVP | c.322G>A (p.Glu108Lys)
| dbSNP gnomAD v4 |
20 | g.3082978del | CA2651674840 | AVP | c.321del (p.Asp107GlufsTer5)
| gnomAD v4 |
20 | g.3082978G>A | CA9739439 | AVP | c.321C>T (p.Asp107=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082978G>C | CA408061467 | AVP | c.321C>G (p.Asp107Glu)
| ClinVar gnomAD v4 |
20 | g.3082978G= | CA2346405520 | AVP | c.321C= (p.Asp107=)
| |
20 | g.3082978G>T | CA408061468 | AVP | c.321C>A (p.Asp107Glu)
| gnomAD v4 |
20 | g.3082979T>A | CA408061469 | AVP | c.320A>T (p.Asp107Val)
| gnomAD v4 |
20 | g.3082979T>C | CA408061470 | AVP | c.320A>G (p.Asp107Gly)
| dbSNP gnomAD v4 |
20 | g.3082979T>G | CA408061471 | AVP | c.320A>C (p.Asp107Ala)
| gnomAD v4 |
20 | g.3082979T= | CA2346405521 | AVP | c.320A= (p.Asp107=)
| |
20 | g.3082980C>A | CA408061472 | AVP | c.319G>T (p.Asp107Tyr)
| dbSNP gnomAD v4 |
20 | g.3082980C= | CA2346405522 | AVP | c.319G= (p.Asp107=)
| |
20 | g.3082980C>G | CA408061473 | AVP | c.319G>C (p.Asp107His)
| gnomAD v4 |
20 | g.3082980C>T | CA9739440 | AVP | c.319G>A (p.Asp107Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082981G>A | CA509554613 | AVP | c.318C>T (p.Asn106=)
| gnomAD v4 |
20 | g.3082981G>C | CA408061474 | AVP | c.318C>G (p.Asn106Lys)
| dbSNP gnomAD v4 |
20 | g.3082981G= | CA2346405523 | AVP | c.318C= (p.Asn106=)
| |
20 | g.3082981G>T | CA408061475 | AVP | c.318C>A (p.Asn106Lys)
| gnomAD v4 |
20 | g.3082982T>A | CA408061476 | AVP | c.317A>T (p.Asn106Ile)
| |
20 | g.3082982T>C | CA408061477 | AVP | c.317A>G (p.Asn106Ser)
| gnomAD v4 |
20 | g.3082982T>G | CA408061478 | AVP | c.317A>C (p.Asn106Thr)
| gnomAD v4 |
20 | g.3082983T>A | CA408061481 | AVP | c.316A>T (p.Asn106Tyr)
| |
20 | g.3082983T>C | CA408061480 | AVP | c.316A>G (p.Asn106Asp)
| gnomAD v4 |
20 | g.3082983T>G | CA408061479 | AVP | c.316A>C (p.Asn106His)
| |
20 | g.3082984G>A | CA509554617 | AVP | c.315C>T (p.Cys105=)
| gnomAD v4 |
20 | g.3082984G>C | CA408061482 | AVP | c.315C>G (p.Cys105Trp)
| |
20 | g.3082984G= | CA2346405524 | AVP | c.315C= (p.Cys105=)
| |
20 | g.3082984G>T | CA408061483 | AVP | c.315C>A (p.Cys105Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082985C>A | CA408061484 | AVP | c.314G>T (p.Cys105Phe)
| gnomAD v4 |
20 | g.3082985C>G | CA408061485 | AVP | c.314G>C (p.Cys105Ser)
| gnomAD v4 |
20 | g.3082985C>T | CA408061486 | AVP | c.314G>A (p.Cys105Tyr)
| gnomAD v4 |
20 | g.3082986A>C | CA408061487 | AVP | c.313T>G (p.Cys105Gly)
| |
20 | g.3082986A>G | CA408061488 | AVP | c.313T>C (p.Cys105Arg)
| gnomAD v4 |
20 | g.3082986A>T | CA408061489 | AVP | c.313T>A (p.Cys105Ser)
| |
20 | g.3082987G>A | CA509554621 | AVP | c.312C>T (p.Cys104=)
| gnomAD v4 |
20 | g.3082987G>C | CA408061490 | AVP | c.312C>G (p.Cys104Trp)
| |
20 | g.3082987G>T | CA408061491 | AVP | c.312C>A (p.Cys104Ter)
| gnomAD v4 |
20 | g.3082988C>A | CA408061492 | AVP | c.311G>T (p.Cys104Phe)
| gnomAD v4 |
20 | g.3082988C>G | CA408061493 | AVP | c.311G>C (p.Cys104Ser)
| |
20 | g.3082988C>T | CA408061494 | AVP | c.311G>A (p.Cys104Tyr)
| |
20 | g.3082989A>C | CA408061497 | AVP | c.310T>G (p.Cys104Gly)
| |
20 | g.3082989A>G | CA408061495 | AVP | c.310T>C (p.Cys104Arg)
| gnomAD v4 |
20 | g.3082989A>T | CA408061496 | AVP | c.310T>A (p.Cys104Ser)
| |
20 | g.3082990A>C | CA509554622 | AVP | c.309T>G (p.Val103=)
| |
20 | g.3082990A>G | CA509554623 | AVP | c.309T>C (p.Val103=)
| gnomAD v4 |
20 | g.3082990A>T | CA509554624 | AVP | c.309T>A (p.Val103=)
| |
20 | g.3082991A>C | CA408061498 | AVP | c.308T>G (p.Val103Gly)
| |
20 | g.3082991A>G | CA408061499 | AVP | c.308T>C (p.Val103Ala)
| gnomAD v4 |
20 | g.3082991A>T | CA408061500 | AVP | c.308T>A (p.Val103Asp)
| |
20 | g.3082992C>A | CA408061501 | AVP | c.307G>T (p.Val103Phe)
| dbSNP gnomAD v4 |
20 | g.3082992C= | CA2346405525 | AVP | c.307G= (p.Val103=)
| |
20 | g.3082992C>G | CA408061502 | AVP | c.307G>C (p.Val103Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082992C>T | CA408061503 | AVP | c.307G>A (p.Val103Ile)
| gnomAD v4 |
20 | g.3082993G>A | CA509554628 | AVP | c.306C>T (p.Gly102=)
| gnomAD v4 |
20 | g.3082993G>C | CA509554629 | AVP | c.306C>G (p.Gly102=)
| |
20 | g.3082993G>T | CA509554630 | AVP | c.306C>A (p.Gly102=)
| gnomAD v4 |
20 | g.3082994C>A | CA408061504 | AVP | c.305G>T (p.Gly102Val)
| gnomAD v4 |
20 | g.3082994C>G | CA408061505 | AVP | c.305G>C (p.Gly102Ala)
| dbSNP |
20 | g.3082994C>T | CA408061506 | AVP | c.305G>A (p.Gly102Asp)
| gnomAD v4 |
20 | g.3082995C>A | CA9739441 | AVP | c.304G>T (p.Gly102Cys)
| dbSNP ExAC gnomAD v4 |
20 | g.3082995C= | CA2346405526 | AVP | c.304G= (p.Gly102=)
| |
20 | g.3082995C>G | CA408061507 | AVP | c.304G>C (p.Gly102Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082995C>T | CA9739442 | AVP | c.304G>A (p.Gly102Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3082996G>A | CA509554634 | AVP | c.303C>T (p.Phe101=)
| gnomAD v4 |
20 | g.3082996G>C | CA408061508 | AVP | c.303C>G (p.Phe101Leu)
| |
20 | g.3082996G>T | CA408061509 | AVP | c.303C>A (p.Phe101Leu)
| gnomAD v4 |
20 | g.3082996_3082997delinsGA | CA2346405527 | AVP | c.302_303delinsTC (p.Phe101=)
| |
20 | g.3082997A>C | CA408061510 | AVP | c.302T>G (p.Phe101Cys)
| |
20 | g.3082997A>G | CA408061511 | AVP | c.302T>C (p.Phe101Ser)
| gnomAD v4 |
20 | g.3082997A>T | CA408061512 | AVP | c.302T>A (p.Phe101Tyr)
| |
20 | g.3082998del | CA634329006 | AVP | c.302del (p.Phe101SerfsTer11)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082998A>C | CA408061513 | AVP | c.301T>G (p.Phe101Val)
| gnomAD v4 |
20 | g.3082998A>G | CA408061514 | AVP | c.301T>C (p.Phe101Leu)
| gnomAD v4 |
20 | g.3082998A>T | CA408061515 | AVP | c.301T>A (p.Phe101Ile)
| gnomAD v4 |
20 | g.3082999G>A | CA509554636 | AVP | c.300C>T (p.Ala100=)
| dbSNP gnomAD v4 |
20 | g.3082999G>C | CA509554637 | AVP | c.300C>G (p.Ala100=)
| dbSNP gnomAD v4 |
20 | g.3082999G= | CA2346405528 | AVP | c.300C= (p.Ala100=)
| |
20 | g.3082999G>T | CA509554638 | AVP | c.300C>A (p.Ala100=)
| gnomAD v4 |
20 | g.3083000G>A | CA408061518 | AVP | c.299C>T (p.Ala100Val)
| gnomAD v4 |
20 | g.3083000G>C | CA408061517 | AVP | c.299C>G (p.Ala100Gly)
| |
20 | g.3083000G>T | CA408061516 | AVP | c.299C>A (p.Ala100Asp)
| gnomAD v4 |
20 | g.3083001C>A | CA408061519 | AVP | c.298G>T (p.Ala100Ser)
| gnomAD v4 |
20 | g.3083001C= | CA2346405529 | AVP | c.298G= (p.Ala100=)
| |
20 | g.3083001C>G | CA408061520 | AVP | c.298G>C (p.Ala100Pro)
| |
20 | g.3083001C>T | CA408061521 | AVP | c.298G>A (p.Ala100Thr)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083002G>A | CA509554640 | AVP | c.297C>T (p.Ala99=)
| dbSNP gnomAD v4 |
20 | g.3083002G>C | CA509554641 | AVP | c.297C>G (p.Ala99=)
| |
20 | g.3083002G= | CA2346405530 | AVP | c.297C= (p.Ala99=)
| |
20 | g.3083002G>T | CA509554642 | AVP | c.297C>A (p.Ala99=)
| gnomAD v4 |
20 | g.3083003G>A | CA408061522 | AVP | c.296C>T (p.Ala99Val)
| gnomAD v4 |
20 | g.3083003G>C | CA408061523 | AVP | c.296C>G (p.Ala99Gly)
| |
20 | g.3083003G>T | CA408061524 | AVP | c.296C>A (p.Ala99Asp)
| |
20 | g.3083004C>A | CA408061525 | AVP | c.295G>T (p.Ala99Ser)
| gnomAD v4 |
20 | g.3083004C= | CA2346405531 | AVP | c.295G= (p.Ala99=)
| |
20 | g.3083004C>G | CA408061527 | AVP | c.295G>C (p.Ala99Pro)
| |
20 | g.3083004C>T | CA408061526 | AVP | c.295G>A (p.Ala99Thr)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083005G>A | CA9739443 | AVP | c.294C>T (p.Cys98=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083005G>C | CA408061528 | AVP | c.294C>G (p.Cys98Trp)
| |
20 | g.3083005G= | CA2346405532 | AVP | c.294C= (p.Cys98=)
| |
20 | g.3083005G>T | CA121952 | AVP | c.294C>A (p.Cys98Ter)
| ClinVar dbSNP gnomAD v4 |
20 | g.3083005_3083006delinsAG | CA2695229215 | AVP | c.293_294delinsCT (p.Cys98Ser)
| |
20 | g.3083006C>A | CA408061529 | AVP | c.293G>T (p.Cys98Phe)
| gnomAD v4 |
20 | g.3083006C>G | CA408061530 | AVP | c.293G>C (p.Cys98Ser)
| |
20 | g.3083006C>T | CA408061531 | AVP | c.293G>A (p.Cys98Tyr)
| gnomAD v4 |
20 | g.3083007A>C | CA408061532 | AVP | c.292T>G (p.Cys98Gly)
| |
20 | g.3083007A>G | CA408061533 | AVP | c.292T>C (p.Cys98Arg)
| gnomAD v4 |
20 | g.3083007A>T | CA408061534 | AVP | c.292T>A (p.Cys98Ser)
| |
20 | g.3083008G>A | CA509554646 | AVP | c.291C>T (p.Arg97=)
| gnomAD v4 |
20 | g.3083008G>C | CA509554647 | AVP | c.291C>G (p.Arg97=)
| dbSNP gnomAD v4 |
20 | g.3083008G= | CA2346405533 | AVP | c.291C= (p.Arg97=)
| |
20 | g.3083008G>T | CA509554648 | AVP | c.291C>A (p.Arg97=)
| gnomAD v4 |