Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.204159323C>A | CA528190044 | REN | c.689+76G>T (n.689+76G>T) c.575+76G>T (n.575+76G>T) | dbSNP gnomAD v2 |
1 | g.204159323C= | CA2482057020 | REN | c.689+76G= (n.689+76G=) c.575+76G= (n.575+76G=) | |
1 | g.204159323C>G | CA730338857 | REN | c.689+76G>C (n.689+76G>C) c.575+76G>C (n.575+76G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204159323C>T | CA2573984789 | REN | c.689+76G>A (n.689+76G>A) c.575+76G>A (n.575+76G>A) | |
1 | g.204159324C>T | CA2573984792 | REN | c.689+75G>A (n.689+75G>A) c.575+75G>A (n.575+75G>A) | |
1 | g.204159325A= | CA1146931765 | REN | c.689+74T= (n.689+74T=) c.575+74T= (n.575+74T=) | |
1 | g.204159325A>T | CA1344848 | REN | c.689+74T>A (n.689+74T>A) c.575+74T>A (n.575+74T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159326G>A | CA2697918959 | REN | c.689+73C>T (n.689+73C>T) c.575+73C>T (n.575+73C>T) | dbSNP |
1 | g.204159326G>T | CA2650014113 | REN | c.689+73C>A (n.689+73C>A) c.575+73C>A (n.575+73C>A) | gnomAD v4 |
1 | g.204159327A>C | CA1011400045 | REN | c.689+72T>G (n.689+72T>G) c.575+72T>G (n.575+72T>G) | gnomAD v3 gnomAD v4 |
1 | g.204159328C= | CA2482057021 | REN | c.689+71G= (n.689+71G=) c.575+71G= (n.575+71G=) | |
1 | g.204159328C>G | CA528190045 | REN | c.689+71G>C (n.689+71G>C) c.575+71G>C (n.575+71G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204159328C>T | CA528190046 | REN | c.689+71G>A (n.689+71G>A) c.575+71G>A (n.575+71G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204159330C>T | CA2650014114 | REN | c.689+69G>A (n.689+69G>A) c.575+69G>A (n.575+69G>A) | gnomAD v4 |
1 | g.204159331T>C | CA528190047 | REN | c.689+68A>G (n.689+68A>G) c.575+68A>G (n.575+68A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204159331T= | CA2482057022 | REN | c.689+68A= (n.689+68A=) c.575+68A= (n.575+68A=) | |
1 | g.204159332C= | CA1144752282 | REN | c.689+67G= (n.689+67G=) c.575+67G= (n.575+67G=) | |
1 | g.204159332C>G | CA2573984860 | REN | c.689+67G>C (n.689+67G>C) c.575+67G>C (n.575+67G>C) | |
1 | g.204159332C>T | CA35734455 | REN | c.689+67G>A (n.689+67G>A) c.575+67G>A (n.575+67G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204159334T>C | CA528190048 | REN | c.689+65A>G (n.689+65A>G) c.575+65A>G (n.575+65A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204159334T>G | CA2650014115 | REN | c.689+65A>C (n.689+65A>C) c.575+65A>C (n.575+65A>C) | gnomAD v4 |
1 | g.204159334T= | CA2482057023 | REN | c.689+65A= (n.689+65A=) c.575+65A= (n.575+65A=) | |
1 | g.204159335T>A | CA528190049 | REN | c.689+64A>T (n.689+64A>T) c.575+64A>T (n.575+64A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159335T= | CA2482057024 | REN | c.689+64A= (n.689+64A=) c.575+64A= (n.575+64A=) | |
1 | g.204159336C>A | CA2650014116 | REN | c.689+63G>T (n.689+63G>T) c.575+63G>T (n.575+63G>T) | gnomAD v4 |
1 | g.204159336C= | CA2482057025 | REN | c.689+63G= (n.689+63G=) c.575+63G= (n.575+63G=) | |
1 | g.204159336C>T | CA528190050 | REN | c.689+63G>A (n.689+63G>A) c.575+63G>A (n.575+63G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159338_204159356dup | CA1344849 | REN | c.689+45_689+63dup (n.689+45_689+63dup) c.575+45_575+63dup (n.575+45_575+63dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159337C>A | CA2573984872 | REN | c.689+62G>T (n.689+62G>T) c.575+62G>T (n.575+62G>T) | |
1 | g.204159337C= | CA2482057026 | REN | c.689+62G= (n.689+62G=) c.575+62G= (n.575+62G=) | |
1 | g.204159337C>T | CA35734460 | REN | c.689+62G>A (n.689+62G>A) c.575+62G>A (n.575+62G>A) | dbSNP gnomAD v4 |
1 | g.204159338A= | CA2482057027 | REN | c.689+61T= (n.689+61T=) c.575+61T= (n.575+61T=) | |
1 | g.204159338A>G | CA2650014117 | REN | c.689+61T>C (n.689+61T>C) c.575+61T>C (n.575+61T>C) | gnomAD v4 |
1 | g.204159339C>T | CA2573984885 | REN | c.689+60G>A (n.689+60G>A) c.575+60G>A (n.575+60G>A) | |
1 | g.204159345_204159357dup | CA730338878 | REN | c.689+48_689+60dup (n.689+48_689+60dup) c.575+48_575+60dup (n.575+48_575+60dup) | dbSNP |
1 | g.204159340T>A | CA2739670913 | REN | c.689+59A>T (n.689+59A>T) c.575+59A>T (n.575+59A>T) | |
1 | g.204159340T>C | CA2739670912 | REN | c.689+59A>G (n.689+59A>G) c.575+59A>G (n.575+59A>G) | |
1 | g.204159340T>G | CA2739670914 | REN | c.689+59A>C (n.689+59A>C) c.575+59A>C (n.575+59A>C) | |
1 | g.204159341C>G | CA2739670915 | REN | c.689+58G>C (n.689+58G>C) c.575+58G>C (n.575+58G>C) | |
1 | g.204159341C>T | CA2739670916 | REN | c.689+58G>A (n.689+58G>A) c.575+58G>A (n.575+58G>A) | |
1 | g.204159342C>A | CA2650014119 | REN | c.689+57G>T (n.689+57G>T) c.575+57G>T (n.575+57G>T) | gnomAD v4 |
1 | g.204159342C= | CA2482057028 | REN | c.689+57G= (n.689+57G=) c.575+57G= (n.575+57G=) | |
1 | g.204159342C>T | CA528190051 | REN | c.689+57G>A (n.689+57G>A) c.575+57G>A (n.575+57G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159343C>A | CA2739670917 | REN | c.689+56G>T (n.689+56G>T) c.575+56G>T (n.575+56G>T) | |
1 | g.204159343C>G | CA2739670918 | REN | c.689+56G>C (n.689+56G>C) c.575+56G>C (n.575+56G>C) | |
1 | g.204159343C>T | CA646367680 | REN | c.689+56G>A (n.689+56G>A) c.575+56G>A (n.575+56G>A) | COSMIC |
1 | g.204159344C>A | CA2739670919 | REN | c.689+55G>T (n.689+55G>T) c.575+55G>T (n.575+55G>T) | |
1 | g.204159344C>G | CA2739670920 | REN | c.689+55G>C (n.689+55G>C) c.575+55G>C (n.575+55G>C) | |
1 | g.204159344C>T | CA2573984889 | REN | c.689+55G>A (n.689+55G>A) c.575+55G>A (n.575+55G>A) | gnomAD v4 |
1 | g.204159345A= | CA2482057029 | REN | c.689+54T= (n.689+54T=) c.575+54T= (n.575+54T=) | |
1 | g.204159345A>C | CA528190052 | REN | c.689+54T>G (n.689+54T>G) c.575+54T>G (n.575+54T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204159345A>T | CA2739670921 | REN | c.689+54T>A (n.689+54T>A) c.575+54T>A (n.575+54T>A) | |
1 | g.204159346T>A | CA2650014120 | REN | c.689+53A>T (n.689+53A>T) c.575+53A>T (n.575+53A>T) | gnomAD v4 |
1 | g.204159346T>C | CA2573984896 | REN | c.689+53A>G (n.689+53A>G) c.575+53A>G (n.575+53A>G) | gnomAD v4 |
1 | g.204159346T>G | CA2739670922 | REN | c.689+53A>C (n.689+53A>C) c.575+53A>C (n.575+53A>C) | |
1 | g.204159347C>A | CA2739670923 | REN | c.689+52G>T (n.689+52G>T) c.575+52G>T (n.575+52G>T) | |
1 | g.204159347C>G | CA2739670924 | REN | c.689+52G>C (n.689+52G>C) c.575+52G>C (n.575+52G>C) | |
1 | g.204159347C>T | CA2739670925 | REN | c.689+52G>A (n.689+52G>A) c.575+52G>A (n.575+52G>A) | |
1 | g.204159350_204159374dup | CA1011400066 | REN | c.689+28_689+52dup (n.689+28_689+52dup) c.575+28_575+52dup (n.575+28_575+52dup) | gnomAD v3 gnomAD v4 |
1 | g.204159348T>A | CA2739670926 | REN | c.689+51A>T (n.689+51A>T) c.575+51A>T (n.575+51A>T) | |
1 | g.204159348T>G | CA2739670927 | REN | c.689+51A>C (n.689+51A>C) c.575+51A>C (n.575+51A>C) | |
1 | g.204159349C= | CA2482057030 | REN | c.689+50G= (n.689+50G=) c.575+50G= (n.575+50G=) | |
1 | g.204159349C>T | CA35734461 | REN | c.689+50G>A (n.689+50G>A) c.575+50G>A (n.575+50G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204159350T= | CA2482057031 | REN | c.689+49A= (n.689+49A=) c.575+49A= (n.575+49A=) | |
1 | g.204159355_204159356insTGTCTCC | CA1344850 | REN | c.689+48_689+49insCAGGAGA (n.689+48_689+49insCAGGAGA) c.575+48_575+49insCAGGAGA (n.575+48_575+49insCAGGAGA) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204159352C>T | CA2650014121 | REN | c.689+47G>A (n.689+47G>A) c.575+47G>A (n.575+47G>A) | gnomAD v4 |
1 | g.204159353T>G | CA528190053 | REN | c.689+46A>C (n.689+46A>C) c.575+46A>C (n.575+46A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204159353T= | CA2482057032 | REN | c.689+46A= (n.689+46A=) c.575+46A= (n.575+46A=) | |
1 | g.204159354C>G | CA2528048494 | REN | c.689+45G>C (n.689+45G>C) c.575+45G>C (n.575+45G>C) | gnomAD v4 |
1 | g.204159355C>A | CA2650014122 | REN | c.689+44G>T (n.689+44G>T) c.575+44G>T (n.575+44G>T) | gnomAD v4 |
1 | g.204159355C>T | CA2747425932 | REN | c.689+44G>A (n.689+44G>A) c.575+44G>A (n.575+44G>A) | |
1 | g.204159356C= | CA2482057033 | REN | c.689+43G= (n.689+43G=) c.575+43G= (n.575+43G=) | |
1 | g.204159356C>T | CA1344851 | REN | c.689+43G>A (n.689+43G>A) c.575+43G>A (n.575+43G>A) | dbSNP ExAC gnomAD v4 |
1 | g.204159357C= | CA1140252462 | REN | c.689+42G= (n.689+42G=) c.575+42G= (n.575+42G=) | |
1 | g.204159357C>G | CA1344852 | REN | c.689+42G>C (n.689+42G>C) c.575+42G>C (n.575+42G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159357C>T | CA1344853 | REN | c.689+42G>A (n.689+42G>A) c.575+42G>A (n.575+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159358T>A | CA2650014124 | REN | c.689+41A>T (n.689+41A>T) c.575+41A>T (n.575+41A>T) | gnomAD v4 |
1 | g.204159358T>C | CA1344854 | REN | c.689+41A>G (n.689+41A>G) c.575+41A>G (n.575+41A>G) | dbSNP ExAC |
1 | g.204159358T>G | CA2650014125 | REN | c.689+41A>C (n.689+41A>C) c.575+41A>C (n.575+41A>C) | gnomAD v4 |
1 | g.204159358T= | CA2482057034 | REN | c.689+41A= (n.689+41A=) c.575+41A= (n.575+41A=) | |
1 | g.204159359C>T | CA2747425933 | REN | c.689+40G>A (n.689+40G>A) c.575+40G>A (n.575+40G>A) | |
1 | g.204159360C>G | CA2650014126 | REN | c.689+39G>C (n.689+39G>C) c.575+39G>C (n.575+39G>C) | gnomAD v4 |
1 | g.204159360C>T | CA2560636146 | REN | c.689+39G>A (n.689+39G>A) c.575+39G>A (n.575+39G>A) | |
1 | g.204159361T>C | CA730338898 | REN | c.689+38A>G (n.689+38A>G) c.575+38A>G (n.575+38A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204159361T= | CA2482057035 | REN | c.689+38A= (n.689+38A=) c.575+38A= (n.575+38A=) | |
1 | g.204159362G>A | CA1344855 | REN | c.689+37C>T (n.689+37C>T) c.575+37C>T (n.575+37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159362G= | CA1147791266 | REN | c.689+37C= (n.689+37C=) c.575+37C= (n.575+37C=) | |
1 | g.204159362G>T | CA2573984926 | REN | c.689+37C>A (n.689+37C>A) c.575+37C>A (n.575+37C>A) | gnomAD v4 |
1 | g.204159363T>A | CA2573984999 | REN | c.689+36A>T (n.689+36A>T) c.575+36A>T (n.575+36A>T) | |
1 | g.204159363T>C | CA2650014127 | REN | c.689+36A>G (n.689+36A>G) c.575+36A>G (n.575+36A>G) | gnomAD v4 |
1 | g.204159363T= | CA2482057036 | REN | c.689+36A= (n.689+36A=) c.575+36A= (n.575+36A=) | |
1 | g.204159364C>A | CA2482057038 | REN | c.689+35G>T (n.689+35G>T) c.575+35G>T (n.575+35G>T) | dbSNP gnomAD v4 |
1 | g.204159364C= | CA2482057037 | REN | c.689+35G= (n.689+35G=) c.575+35G= (n.575+35G=) | |
1 | g.204159364C>T | CA1344857 | REN | c.689+35G>A (n.689+35G>A) c.575+35G>A (n.575+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159364_204159369delinsCCCCCC | CA1148414508 | REN | c.689+30_689+35delinsGGGGGG (n.689+30_689+35delinsGGGGGG) c.575+30_575+35delinsGGGGGG (n.575+30_575+35delinsGGGGGG) | |
1 | g.204159369dup | CA1344856 | REN | c.689+35dup (n.689+35dup) c.575+35dup (n.575+35dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159369del | CA2573985005 | REN | c.689+35del (n.689+35del) c.575+35del (n.575+35del) | gnomAD v4 |
1 | g.204159365C>A | CA2650014128 | REN | c.689+34G>T (n.689+34G>T) c.575+34G>T (n.575+34G>T) | gnomAD v4 |
1 | g.204159365C>G | CA2747425934 | REN | c.689+34G>C (n.689+34G>C) c.575+34G>C (n.575+34G>C) | |
1 | g.204159365C>T | CA2650014129 | REN | c.689+34G>A (n.689+34G>A) c.575+34G>A (n.575+34G>A) | gnomAD v4 |
1 | g.204159366C>A | CA2650014130 | REN | c.689+33G>T (n.689+33G>T) c.575+33G>T (n.575+33G>T) | gnomAD v4 |
1 | g.204159366C>T | CA2747425935 | REN | c.689+33G>A (n.689+33G>A) c.575+33G>A (n.575+33G>A) | |
1 | g.204159367C= | CA2482057039 | REN | c.689+32G= (n.689+32G=) c.575+32G= (n.575+32G=) | |
1 | g.204159367C>T | CA528190054 | REN | c.689+32G>A (n.689+32G>A) c.575+32G>A (n.575+32G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204159368C= | CA2482057040 | REN | c.689+31G= (n.689+31G=) c.575+31G= (n.575+31G=) | |
1 | g.204159368C>G | CA2482057041 | REN | c.689+31G>C (n.689+31G>C) c.575+31G>C (n.575+31G>C) | dbSNP gnomAD v4 |
1 | g.204159368C>T | CA2482057042 | REN | c.689+31G>A (n.689+31G>A) c.575+31G>A (n.575+31G>A) | dbSNP gnomAD v4 |
1 | g.204159369C>A | CA1344858 | REN | c.689+30G>T (n.689+30G>T) c.575+30G>T (n.575+30G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159369C= | CA2482057043 | REN | c.689+30G= (n.689+30G=) c.575+30G= (n.575+30G=) | |
1 | g.204159369C>G | CA1344859 | REN | c.689+30G>C (n.689+30G>C) c.575+30G>C (n.575+30G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159369C>T | CA1011400081 | REN | c.689+30G>A (n.689+30G>A) c.575+30G>A (n.575+30G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204159370A>C | CA2570395067 | REN | c.689+29T>G (n.689+29T>G) c.575+29T>G (n.575+29T>G) | |
1 | g.204159370A>G | CA2650014131 | REN | c.689+29T>C (n.689+29T>C) c.575+29T>C (n.575+29T>C) | gnomAD v4 |
1 | g.204159370A>T | CA2573985028 | REN | c.689+29T>A (n.689+29T>A) c.575+29T>A (n.575+29T>A) | |
1 | g.204159371C>A | CA2650014132 | REN | c.689+28G>T (n.689+28G>T) c.575+28G>T (n.575+28G>T) | gnomAD v4 |
1 | g.204159373T>C | CA2650014133 | REN | c.689+26A>G (n.689+26A>G) c.575+26A>G (n.575+26A>G) | gnomAD v4 |
1 | g.204159376G>A | CA1344860 | REN | c.689+23C>T (n.689+23C>T) c.575+23C>T (n.575+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204159376G>C | CA2573985033 | REN | c.689+23C>G (n.689+23C>G) c.575+23C>G (n.575+23C>G) | gnomAD v4 |
1 | g.204159376G= | CA2482057044 | REN | c.689+23C= (n.689+23C=) c.575+23C= (n.575+23C=) | |
1 | g.204159376G>T | CA2650014134 | REN | c.689+23C>A (n.689+23C>A) c.575+23C>A (n.575+23C>A) | gnomAD v4 |
1 | g.204159377C>A | CA2650014135 | REN | c.689+22G>T (n.689+22G>T) c.575+22G>T (n.575+22G>T) | gnomAD v4 |
1 | g.204159377C= | CA2482057045 | REN | c.689+22G= (n.689+22G=) c.575+22G= (n.575+22G=) | |
1 | g.204159377C>T | CA1344861 | REN | c.689+22G>A (n.689+22G>A) c.575+22G>A (n.575+22G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.204159378C= | CA2482057046 | REN | c.689+21G= (n.689+21G=) c.575+21G= (n.575+21G=) | |
1 | g.204159378C>T | CA2482057047 | REN | c.689+21G>A (n.689+21G>A) c.575+21G>A (n.575+21G>A) | dbSNP gnomAD v4 |
1 | g.204159380T>A | CA2650014136 | REN | c.689+19A>T (n.689+19A>T) c.575+19A>T (n.575+19A>T) | gnomAD v4 |
1 | g.204159380T>C | CA646367683 | REN | c.689+19A>G (n.689+19A>G) c.575+19A>G (n.575+19A>G) | gnomAD v4 COSMIC |
1 | g.204159382G>A | CA1011400086 | REN | c.689+17C>T (n.689+17C>T) c.575+17C>T (n.575+17C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204159382G= | CA2482057048 | REN | c.689+17C= (n.689+17C=) c.575+17C= (n.575+17C=) | |
1 | g.204159383G>A | CA2650014137 | REN | c.689+16C>T (n.689+16C>T) c.575+16C>T (n.575+16C>T) | gnomAD v4 |
1 | g.204159385G>A | CA2650014138 | REN | c.689+14C>T (n.689+14C>T) c.575+14C>T (n.575+14C>T) | gnomAD v4 |
1 | g.204159385G>C | CA730338911 | REN | c.689+14C>G (n.689+14C>G) c.575+14C>G (n.575+14C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204159385G= | CA2482057049 | REN | c.689+14C= (n.689+14C=) c.575+14C= (n.575+14C=) | |
1 | g.204159386T>A | CA730338915 | REN | c.689+13A>T (n.689+13A>T) c.575+13A>T (n.575+13A>T) | dbSNP gnomAD v4 |
1 | g.204159386T= | CA2482057050 | REN | c.689+13A= (n.689+13A=) c.575+13A= (n.575+13A=) | |
1 | g.204159389C= | CA2482057051 | REN | c.689+10G= (n.689+10G=) c.575+10G= (n.575+10G=) | |
1 | g.204159389C>T | CA730338918 | REN | c.689+10G>A (n.689+10G>A) c.575+10G>A (n.575+10G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204159390A= | CA2482057052 | REN | c.689+9T= (n.689+9T=) c.575+9T= (n.575+9T=) | |
1 | g.204159390A>C | CA1344862 | REN | c.689+9T>G (n.689+9T>G) c.575+9T>G (n.575+9T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159392T>C | CA1011400091 | REN | c.689+7A>G (n.689+7A>G) c.575+7A>G (n.575+7A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204159392T= | CA2482057053 | REN | c.689+7A= (n.689+7A=) c.575+7A= (n.575+7A=) | |
1 | g.204159393C= | CA2482057054 | REN | c.689+6G= (n.689+6G=) c.575+6G= (n.575+6G=) | |
1 | g.204159393C>T | CA35734497 | REN | c.689+6G>A (n.689+6G>A) c.575+6G>A (n.575+6G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159395_204159396dup | CA913375964 | REN | c.689+5_689+6dup (n.689+5_689+6dup) c.575+5_575+6dup (n.575+5_575+6dup) | gnomAD v2 gnomAD v4 |
1 | g.204159394C>A | CA2650014139 | REN | c.689+5G>T (n.689+5G>T) c.575+5G>T (n.575+5G>T) | gnomAD v4 |
1 | g.204159394C= | CA2482057055 | REN | c.689+5G= (n.689+5G=) c.575+5G= (n.575+5G=) | |
1 | g.204159394C>T | CA1344863 | REN | c.689+5G>A (n.689+5G>A) c.575+5G>A (n.575+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204159395C>A | CA2650014140 | REN | c.689+4G>T (n.689+4G>T) c.575+4G>T (n.575+4G>T) | gnomAD v4 |
1 | g.204159395_204159397delinsCCA | CA2482057056 | REN | c.689+2_689+4delinsTGG (n.689+2_689+4delinsTGG) c.575+2_575+4delinsTGG (n.575+2_575+4delinsTGG) | |
1 | g.204159397_204159398del | CA528190055 | REN | c.689+2_689+3del (n.689+2_689+3del) c.575+2_575+3del (n.575+2_575+3del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204159397A>C | CA344337510 | REN | c.689+2T>G (n.689+2T>G) c.575+2T>G (n.575+2T>G) | |
1 | g.204159397A>G | CA344337514 | REN | c.689+2T>C (n.689+2T>C) c.575+2T>C (n.575+2T>C) | |
1 | g.204159397A>T | CA344337518 | REN | c.689+2T>A (n.689+2T>A) c.575+2T>A (n.575+2T>A) | |
1 | g.204159398C>A | CA344337525 | REN | c.689+1G>T (n.689+1G>T) c.575+1G>T (n.575+1G>T) | |
1 | g.204159398C= | CA2482057057 | REN | c.689+1G= (n.689+1G=) c.575+1G= (n.575+1G=) | |
1 | g.204159398C>G | CA344337523 | REN | c.689+1G>C (n.689+1G>C) c.575+1G>C (n.575+1G>C) | |
1 | g.204159398C>T | CA35734502 | REN | c.689+1G>A (n.689+1G>A) c.575+1G>A (n.575+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204159399C>A | CA344337528 | REN | c.689G>T (p.Arg230Ile) c.575G>T (p.Arg192Ile) | gnomAD v4 |
1 | g.204159399C= | CA1141581509 | REN | c.689G= (p.Arg230=) c.575G= (p.Arg192=) | |
1 | g.204159399C>G | CA344337535 | REN | c.689G>C (p.Arg230Thr) c.575G>C (p.Arg192Thr) | |
1 | g.204159399C>T | CA122848 | REN | c.689G>A (p.Arg230Lys) c.575G>A (p.Arg192Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204159400del | CA2650014142 | REN | c.688del (p.Arg230GlufsTer?) c.574del (p.Arg192GlufsTer?) | gnomAD v4 |
1 | g.204159400T>A | CA344337540 | REN | c.688A>T (p.Arg230Ter) c.574A>T (p.Arg192Ter) | |
1 | g.204159400T>C | CA344337543 | REN | c.688A>G (p.Arg230Gly) c.574A>G (p.Arg192Gly) | |
1 | g.204159400T>G | CA422837316 | REN | c.688A>C (p.Arg230=) c.574A>C (p.Arg192=) | |
1 | g.204159401G>A | CA1344864 | REN | c.687C>T (p.Asn229=) c.573C>T (p.Asn191=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204159401G>C | CA1344865 | REN | c.687C>G (p.Asn229Lys) c.573C>G (p.Asn191Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204159401G= | CA2482057058 | REN | c.687C= (p.Asn229=) c.573C= (p.Asn191=) | |
1 | g.204159401G>T | CA344337549 | REN | c.687C>A (p.Asn229Lys) c.573C>A (p.Asn191Lys) | gnomAD v4 |
1 | g.204159402T>A | CA344337552 | REN | c.686A>T (p.Asn229Ile) c.572A>T (p.Asn191Ile) | |
1 | g.204159402T>C | CA344337554 | REN | c.686A>G (p.Asn229Ser) c.572A>G (p.Asn191Ser) | gnomAD v4 |
1 | g.204159402T>G | CA344337557 | REN | c.686A>C (p.Asn229Thr) c.572A>C (p.Asn191Thr) | gnomAD v4 |
1 | g.204159403T>A | CA1344867 | REN | c.685A>T (p.Asn229Tyr) c.571A>T (p.Asn191Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204159403T>C | CA1344866 | REN | c.685A>G (p.Asn229Asp) c.571A>G (p.Asn191Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204159403T>G | CA344337565 | REN | c.685A>C (p.Asn229His) c.571A>C (p.Asn191His) | gnomAD v4 |
1 | g.204159403T= | CA1149074997 | REN | c.685A= (p.Asn229=) c.571A= (p.Asn191=) | |
1 | g.204159404G>A | CA422837318 | REN | c.684C>T (p.Tyr228=) c.570C>T (p.Tyr190=) | |
1 | g.204159404G>C | CA344337568 | REN | c.684C>G (p.Tyr228Ter) c.570C>G (p.Tyr190Ter) | gnomAD v4 |
1 | g.204159404G>T | CA344337571 | REN | c.684C>A (p.Tyr228Ter) c.570C>A (p.Tyr190Ter) | |
1 | g.204159405del | CA2573985050 | REN | c.683del (p.Tyr228SerfsTer?) c.569del (p.Tyr190SerfsTer?) | |
1 | g.204159405T>A | CA344337574 | REN | c.683A>T (p.Tyr228Phe) c.569A>T (p.Tyr190Phe) | |
1 | g.204159405T>C | CA344337575 | REN | c.683A>G (p.Tyr228Cys) c.569A>G (p.Tyr190Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204159405T>G | CA344337576 | REN | c.683A>C (p.Tyr228Ser) c.569A>C (p.Tyr190Ser) | gnomAD v4 |
1 | g.204159405T= | CA2482057059 | REN | c.683A= (p.Tyr228=) c.569A= (p.Tyr190=) | |
1 | g.204159406A>C | CA344337577 | REN | c.682T>G (p.Tyr228Asp) c.568T>G (p.Tyr190Asp) | |
1 | g.204159406A>G | CA344337579 | REN | c.682T>C (p.Tyr228His) c.568T>C (p.Tyr190His) | |
1 | g.204159406A>T | CA344337581 | REN | c.682T>A (p.Tyr228Asn) c.568T>A (p.Tyr190Asn) | |
1 | g.204159407G>A | CA422837320 | REN | c.681C>T (p.Tyr227=) c.567C>T (p.Tyr189=) | |
1 | g.204159407G>C | CA344337582 | REN | c.681C>G (p.Tyr227Ter) c.567C>G (p.Tyr189Ter) | |
1 | g.204159407G>T | CA344337585 | REN | c.681C>A (p.Tyr227Ter) c.567C>A (p.Tyr189Ter) | |
1 | g.204159408T>A | CA344337589 | REN | c.680A>T (p.Tyr227Phe) c.566A>T (p.Tyr189Phe) | |
1 | g.204159408T>C | CA344337593 | REN | c.680A>G (p.Tyr227Cys) c.566A>G (p.Tyr189Cys) | gnomAD v4 COSMIC |
1 | g.204159408T>G | CA344337596 | REN | c.680A>C (p.Tyr227Ser) c.566A>C (p.Tyr189Ser) | |
1 | g.204159409A>C | CA344337605 | REN | c.679T>G (p.Tyr227Asp) c.565T>G (p.Tyr189Asp) | |
1 | g.204159409A>G | CA344337602 | REN | c.679T>C (p.Tyr227His) c.565T>C (p.Tyr189His) | gnomAD v4 |
1 | g.204159409A>T | CA344337601 | REN | c.679T>A (p.Tyr227Asn) c.565T>A (p.Tyr189Asn) | |
1 | g.204159410G>A | CA422837321 | REN | c.678C>T (p.Phe226=) c.564C>T (p.Phe188=) | |
1 | g.204159410G>C | CA344337609 | REN | c.678C>G (p.Phe226Leu) c.564C>G (p.Phe188Leu) | |
1 | g.204159410G>T | CA344337612 | REN | c.678C>A (p.Phe226Leu) c.564C>A (p.Phe188Leu) | |
1 | g.204159411A>C | CA344337616 | REN | c.677T>G (p.Phe226Cys) c.563T>G (p.Phe188Cys) | |
1 | g.204159411A>G | CA344337618 | REN | c.677T>C (p.Phe226Ser) c.563T>C (p.Phe188Ser) | |
1 | g.204159411A>T | CA344337622 | REN | c.677T>A (p.Phe226Tyr) c.563T>A (p.Phe188Tyr) | |
1 | g.204159413del | CA2650014143 | REN | c.677del (p.Phe226SerfsTer?) c.563del (p.Phe188SerfsTer?) | gnomAD v4 |
1 | g.204159412A>C | CA344337625 | REN | c.676T>G (p.Phe226Val) c.562T>G (p.Phe188Val) | |
1 | g.204159412A>G | CA344337626 | REN | c.676T>C (p.Phe226Leu) c.562T>C (p.Phe188Leu) | |
1 | g.204159412A>T | CA344337629 | REN | c.676T>A (p.Phe226Ile) c.562T>A (p.Phe188Ile) | |
1 | g.204159413A>C | CA422837322 | REN | c.675T>G (p.Ser225=) c.561T>G (p.Ser187=) | |
1 | g.204159413A>G | CA422837323 | REN | c.675T>C (p.Ser225=) c.561T>C (p.Ser187=) | |
1 | g.204159413A>T | CA422837324 | REN | c.675T>A (p.Ser225=) c.561T>A (p.Ser187=) | |
1 | g.204159414G>A | CA344337632 | REN | c.674C>T (p.Ser225Phe) c.560C>T (p.Ser187Phe) | |
1 | g.204159414G>C | CA344337635 | REN | c.674C>G (p.Ser225Cys) c.560C>G (p.Ser187Cys) | |
1 | g.204159414G>T | CA344337638 | REN | c.674C>A (p.Ser225Tyr) c.560C>A (p.Ser187Tyr) | |
1 | g.204159415A>C | CA344337642 | REN | c.673T>G (p.Ser225Ala) c.559T>G (p.Ser187Ala) | |
1 | g.204159415A>G | CA344337648 | REN | c.673T>C (p.Ser225Pro) c.559T>C (p.Ser187Pro) | |
1 | g.204159415A>T | CA344337650 | REN | c.673T>A (p.Ser225Thr) c.559T>A (p.Ser187Thr) | |
1 | g.204159416G>A | CA422837325 | REN | c.672C>T (p.Phe224=) c.558C>T (p.Phe186=) | |
1 | g.204159416G>C | CA344337657 | REN | c.672C>G (p.Phe224Leu) c.558C>G (p.Phe186Leu) | |
1 | g.204159416G>T | CA344337654 | REN | c.672C>A (p.Phe224Leu) c.558C>A (p.Phe186Leu) | |
1 | g.204159417A>C | CA344337661 | REN | c.671T>G (p.Phe224Cys) c.557T>G (p.Phe186Cys) | |
1 | g.204159417A>G | CA344337666 | REN | c.671T>C (p.Phe224Ser) c.557T>C (p.Phe186Ser) | |
1 | g.204159417A>T | CA344337669 | REN | c.671T>A (p.Phe224Tyr) c.557T>A (p.Phe186Tyr) | |
1 | g.204159418A= | CA2482057060 | REN | c.670T= (p.Phe224=) c.556T= (p.Phe186=) | |
1 | g.204159418A>C | CA344337674 | REN | c.670T>G (p.Phe224Val) c.556T>G (p.Phe186Val) | |
1 | g.204159418A>G | CA344337680 | REN | c.670T>C (p.Phe224Leu) c.556T>C (p.Phe186Leu) | dbSNP |
1 | g.204159418A>T | CA344337682 | REN | c.670T>A (p.Phe224Ile) c.556T>A (p.Phe186Ile) | |
1 | g.204159419G>A | CA422837326 | REN | c.669C>T (p.Val223=) c.555C>T (p.Val185=) | gnomAD v4 |
1 | g.204159419G>C | CA422837327 | REN | c.669C>G (p.Val223=) c.555C>G (p.Val185=) | |
1 | g.204159419G>T | CA422837328 | REN | c.669C>A (p.Val223=) c.555C>A (p.Val185=) | |
1 | g.204159420A>C | CA344337697 | REN | c.668T>G (p.Val223Gly) c.554T>G (p.Val185Gly) | |
1 | g.204159420A>G | CA344337702 | REN | c.668T>C (p.Val223Ala) c.554T>C (p.Val185Ala) | |
1 | g.204159420A>T | CA344337705 | REN | c.668T>A (p.Val223Asp) c.554T>A (p.Val185Asp) | |
1 | g.204159421C>A | CA344337709 | REN | c.667G>T (p.Val223Phe) c.553G>T (p.Val185Phe) | |
1 | g.204159421C= | CA2482057061 | REN | c.667G= (p.Val223=) c.553G= (p.Val185=) | |
1 | g.204159421C>G | CA344337712 | REN | c.667G>C (p.Val223Leu) c.553G>C (p.Val185Leu) | |
1 | g.204159421C>T | CA344337714 | REN | c.667G>A (p.Val223Ile) c.553G>A (p.Val185Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159422G>A | CA1344868 | REN | c.666C>T (p.Asp222=) c.552C>T (p.Asp184=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159422G>C | CA344337721 | REN | c.666C>G (p.Asp222Glu) c.552C>G (p.Asp184Glu) | |
1 | g.204159422G= | CA2482057062 | REN | c.666C= (p.Asp222=) c.552C= (p.Asp184=) | |
1 | g.204159422G>T | CA344337717 | REN | c.666C>A (p.Asp222Glu) c.552C>A (p.Asp184Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204159423T>A | CA344337726 | REN | c.665A>T (p.Asp222Val) c.551A>T (p.Asp184Val) | |
1 | g.204159423T>C | CA344337728 | REN | c.665A>G (p.Asp222Gly) c.551A>G (p.Asp184Gly) | |
1 | g.204159423T>G | CA344337732 | REN | c.665A>C (p.Asp222Ala) c.551A>C (p.Asp184Ala) |