2 | g.182838311T>C | CA2662236374 | FRZB | c.797+98A>G (n.797+98A>G)
| gnomAD v4 |
2 | g.182838312C>A | CA2662236375 | FRZB | c.797+97G>T (n.797+97G>T)
| gnomAD v4 |
2 | g.182838312C>T | CA2662236376 | FRZB | c.797+97G>A (n.797+97G>A)
| gnomAD v4 |
2 | g.182838313C>A | CA2662236377 | FRZB | c.797+96G>T (n.797+96G>T)
| dbSNP gnomAD v4 |
2 | g.182838313C= | CA1312515797 | FRZB | c.797+96G= (n.797+96G=)
| |
2 | g.182838313C>T | CA1312515798 | FRZB | c.797+96G>A (n.797+96G>A)
| dbSNP |
2 | g.182838314C>A | CA2662236378 | FRZB | c.797+95G>T (n.797+95G>T)
| gnomAD v4 |
2 | g.182838316A= | CA1312515799 | FRZB | c.797+93T= (n.797+93T=)
| |
2 | g.182838316A>G | CA761677509 | FRZB | c.797+93T>C (n.797+93T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838316A>T | CA1039985201 | FRZB | c.797+93T>A (n.797+93T>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838317T>C | CA538439236 | FRZB | c.797+92A>G (n.797+92A>G)
| gnomAD v2 gnomAD v4 |
2 | g.182838318G>A | CA61679936 | FRZB | c.797+91C>T (n.797+91C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838318G= | CA1312515800 | FRZB | c.797+91C= (n.797+91C=)
| |
2 | g.182838318G>T | CA2577180397 | FRZB | c.797+91C>A (n.797+91C>A)
| gnomAD v4 |
2 | g.182838319T>C | CA2577180398 | FRZB | c.797+90A>G (n.797+90A>G)
| |
2 | g.182838324dup | CA2662236379 | FRZB | c.797+89dup (n.797+89dup)
| gnomAD v4 |
2 | g.182838324del | CA2662236380 | FRZB | c.797+89del (n.797+89del)
| gnomAD v4 |
2 | g.182838325T>C | CA761677513 | FRZB | c.797+84A>G (n.797+84A>G)
| dbSNP gnomAD v4 |
2 | g.182838325T= | CA1312515801 | FRZB | c.797+84A= (n.797+84A=)
| |
2 | g.182838326G>A | CA2662236381 | FRZB | c.797+83C>T (n.797+83C>T)
| gnomAD v4 |
2 | g.182838326G>C | CA61679944 | FRZB | c.797+83C>G (n.797+83C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838326G= | CA1312515802 | FRZB | c.797+83C= (n.797+83C=)
| |
2 | g.182838326G>T | CA761677514 | FRZB | c.797+83C>A (n.797+83C>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838327del | CA2662236382 | FRZB | c.797+82del (n.797+82del)
| gnomAD v4 |
2 | g.182838327C>A | CA2662236383 | FRZB | c.797+82G>T (n.797+82G>T)
| gnomAD v4 |
2 | g.182838327C= | CA1312515803 | FRZB | c.797+82G= (n.797+82G=)
| |
2 | g.182838327C>G | CA2577180399 | FRZB | c.797+82G>C (n.797+82G>C)
| |
2 | g.182838327C>T | CA61679955 | FRZB | c.797+82G>A (n.797+82G>A)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.182838328G>A | CA61679959 | FRZB | c.797+81C>T (n.797+81C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838328G= | CA1312515804 | FRZB | c.797+81C= (n.797+81C=)
| |
2 | g.182838328G>T | CA61679974 | FRZB | c.797+81C>A (n.797+81C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838330G>A | CA2662236385 | FRZB | c.797+79C>T (n.797+79C>T)
| gnomAD v4 |
2 | g.182838330G>C | CA2662236386 | FRZB | c.797+79C>G (n.797+79C>G)
| gnomAD v4 |
2 | g.182838330G>T | CA2577180400 | FRZB | c.797+79C>A (n.797+79C>A)
| gnomAD v4 |
2 | g.182838332del | CA2662236384 | FRZB | c.797+79del (n.797+79del)
| gnomAD v4 |
2 | g.182838331G>A | CA2662236387 | FRZB | c.797+78C>T (n.797+78C>T)
| gnomAD v4 |
2 | g.182838331G= | CA1312515805 | FRZB | c.797+78C= (n.797+78C=)
| |
2 | g.182838331G>T | CA1039985214 | FRZB | c.797+78C>A (n.797+78C>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838332G>T | CA2577180401 | FRZB | c.797+77C>A (n.797+77C>A)
| gnomAD v4 |
2 | g.182838334A>C | CA2662236388 | FRZB | c.797+75T>G (n.797+75T>G)
| gnomAD v4 |
2 | g.182838334A>G | CA2662236389 | FRZB | c.797+75T>C (n.797+75T>C)
| gnomAD v4 |
2 | g.182838335G>A | CA2577180402 | FRZB | c.797+74C>T (n.797+74C>T)
| gnomAD v4 |
2 | g.182838335G>T | CA2577180403 | FRZB | c.797+74C>A (n.797+74C>A)
| gnomAD v4 |
2 | g.182838336C>A | CA2662236390 | FRZB | c.797+73G>T (n.797+73G>T)
| gnomAD v4 |
2 | g.182838336C>T | CA2577180404 | FRZB | c.797+73G>A (n.797+73G>A)
| gnomAD v4 |
2 | g.182838339C>T | CA2662236391 | FRZB | c.797+70G>A (n.797+70G>A)
| gnomAD v4 |
2 | g.182838340T>G | CA61679985 | FRZB | c.797+69A>C (n.797+69A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838340T= | CA1312515806 | FRZB | c.797+69A= (n.797+69A=)
| |
2 | g.182838342T>C | CA2753437687 | FRZB | c.797+67A>G (n.797+67A>G)
| |
2 | g.182838343A= | CA1312515808 | FRZB | c.797+66T= (n.797+66T=)
| |
2 | g.182838343A>C | CA2753437688 | FRZB | c.797+66T>G (n.797+66T>G)
| |
2 | g.182838343A>G | CA1312515807 | FRZB | c.797+66T>C (n.797+66T>C)
| dbSNP |
2 | g.182838343A>T | CA2577180405 | FRZB | c.797+66T>A (n.797+66T>A)
| gnomAD v4 |
2 | g.182838344G>C | CA2662236392 | FRZB | c.797+65C>G (n.797+65C>G)
| gnomAD v4 |
2 | g.182838344G>T | CA2662236393 | FRZB | c.797+65C>A (n.797+65C>A)
| gnomAD v4 |
2 | g.182838346G>A | CA2662236394 | FRZB | c.797+63C>T (n.797+63C>T)
| gnomAD v4 |
2 | g.182838346G>T | CA2577180406 | FRZB | c.797+63C>A (n.797+63C>A)
| gnomAD v4 |
2 | g.182838348_182838349del | CA2662236395 | FRZB | c.797+61_797+62del (n.797+61_797+62del)
| gnomAD v4 |
2 | g.182838348C>A | CA2662236396 | FRZB | c.797+61G>T (n.797+61G>T)
| gnomAD v4 |
2 | g.182838348C>G | CA2662236397 | FRZB | c.797+61G>C (n.797+61G>C)
| gnomAD v4 |
2 | g.182838352T>C | CA2662236398 | FRZB | c.797+57A>G (n.797+57A>G)
| gnomAD v4 |
2 | g.182838352T>G | CA1039985218 | FRZB | c.797+57A>C (n.797+57A>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838352T= | CA1312515809 | FRZB | c.797+57A= (n.797+57A=)
| |
2 | g.182838353T>C | CA2577180407 | FRZB | c.797+56A>G (n.797+56A>G)
| gnomAD v4 |
2 | g.182838354T>C | CA761677518 | FRZB | c.797+55A>G (n.797+55A>G)
| dbSNP |
2 | g.182838354T= | CA1312515810 | FRZB | c.797+55A= (n.797+55A=)
| |
2 | g.182838355A>T | CA2577180408 | FRZB | c.797+54T>A (n.797+54T>A)
| gnomAD v4 |
2 | g.182838357T>C | CA2662236400 | FRZB | c.797+52A>G (n.797+52A>G)
| gnomAD v4 |
2 | g.182838357T>G | CA2662236399 | FRZB | c.797+52A>C (n.797+52A>C)
| gnomAD v4 |
2 | g.182838358G>A | CA2662236402 | FRZB | c.797+51C>T (n.797+51C>T)
| gnomAD v4 |
2 | g.182838358G>T | CA2662236401 | FRZB | c.797+51C>A (n.797+51C>A)
| gnomAD v4 |
2 | g.182838359A= | CA1312515811 | FRZB | c.797+50T= (n.797+50T=)
| |
2 | g.182838359A>G | CA2013927 | FRZB | c.797+50T>C (n.797+50T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838360G>A | CA2577180410 | FRZB | c.797+49C>T (n.797+49C>T)
| |
2 | g.182838360G>T | CA2577180409 | FRZB | c.797+49C>A (n.797+49C>A)
| gnomAD v4 |
2 | g.182838362del | CA2662236403 | FRZB | c.797+47del (n.797+47del)
| gnomAD v4 |
2 | g.182838362G>A | CA2753437689 | FRZB | c.797+47C>T (n.797+47C>T)
| |
2 | g.182838362G>T | CA2662236404 | FRZB | c.797+47C>A (n.797+47C>A)
| gnomAD v4 |
2 | g.182838363T>A | CA2577180411 | FRZB | c.797+46A>T (n.797+46A>T)
| |
2 | g.182838363T>C | CA538439237 | FRZB | c.797+46A>G (n.797+46A>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838363T>G | CA2013928 | FRZB | c.797+46A>C (n.797+46A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838363T= | CA1312515812 | FRZB | c.797+46A= (n.797+46A=)
| |
2 | g.182838364A>G | CA2662236405 | FRZB | c.797+45T>C (n.797+45T>C)
| gnomAD v4 |
2 | g.182838365G>T | CA2577180412 | FRZB | c.797+44C>A (n.797+44C>A)
| gnomAD v4 |
2 | g.182838367A>C | CA2577180413 | FRZB | c.797+42T>G (n.797+42T>G)
| |
2 | g.182838367_182838368delinsAT | CA1312515813 | FRZB | c.797+41_797+42delinsAT (n.797+41_797+42delinsAT)
| |
2 | g.182838368del | CA1312515814 | FRZB | c.797+41del (n.797+41del)
| dbSNP |
2 | g.182838368T>A | CA2662236406 | FRZB | c.797+41A>T (n.797+41A>T)
| gnomAD v4 |
2 | g.182838368T>C | CA2662236407 | FRZB | c.797+41A>G (n.797+41A>G)
| gnomAD v4 |
2 | g.182838371G>A | CA2013929 | FRZB | c.797+38C>T (n.797+38C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838371G= | CA1312515815 | FRZB | c.797+38C= (n.797+38C=)
| |
2 | g.182838371G>T | CA2662236408 | FRZB | c.797+38C>A (n.797+38C>A)
| gnomAD v4 |
2 | g.182838372C>A | CA1039985219 | FRZB | c.797+37G>T (n.797+37G>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838372C= | CA1312515816 | FRZB | c.797+37G= (n.797+37G=)
| |
2 | g.182838373A= | CA1312515817 | FRZB | c.797+36T= (n.797+36T=)
| |
2 | g.182838373A>G | CA761677526 | FRZB | c.797+36T>C (n.797+36T>C)
| dbSNP gnomAD v4 |
2 | g.182838374_182838378del | CA2662236409 | FRZB | c.797+32_797+36del (n.797+32_797+36del)
| gnomAD v4 |
2 | g.182838375A>C | CA2662236410 | FRZB | c.797+34T>G (n.797+34T>G)
| gnomAD v4 |
2 | g.182838376G>T | CA2662236411 | FRZB | c.797+33C>A (n.797+33C>A)
| gnomAD v4 |
2 | g.182838377T>C | CA538439238 | FRZB | c.797+32A>G (n.797+32A>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838377T= | CA1312515818 | FRZB | c.797+32A= (n.797+32A=)
| |
2 | g.182838378A= | CA1312515819 | FRZB | c.797+31T= (n.797+31T=)
| |
2 | g.182838378A>G | CA2662236412 | FRZB | c.797+31T>C (n.797+31T>C)
| gnomAD v4 |
2 | g.182838378A>T | CA61680015 | FRZB | c.797+31T>A (n.797+31T>A)
| dbSNP gnomAD v4 |
2 | g.182838379G>C | CA2662236413 | FRZB | c.797+30C>G (n.797+30C>G)
| gnomAD v4 |
2 | g.182838381T>C | CA1312515821 | FRZB | c.797+28A>G (n.797+28A>G)
| dbSNP gnomAD v4 |
2 | g.182838381T= | CA1312515820 | FRZB | c.797+28A= (n.797+28A=)
| |
2 | g.182838381_182838382insTATAGGTTTAC | CA2517432515 | FRZB | c.797+27_797+28insGTAAACCTATA (n.797+27_797+28insGTAAACCTATA)
| |
2 | g.182838384_182838391delinsTCTGTATC | CA1312515822 | FRZB | c.797+18_797+25delinsGATACAGA (n.797+18_797+25delinsGATACAGA)
| |
2 | g.182838387_182838393del | CA2013930 | FRZB | c.797+18_797+24del (n.797+18_797+24del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838387G>A | CA538439239 | FRZB | c.797+22C>T (n.797+22C>T)
| dbSNP gnomAD v2 |
2 | g.182838387G= | CA1312515823 | FRZB | c.797+22C= (n.797+22C=)
| |
2 | g.182838387G>T | CA2662236414 | FRZB | c.797+22C>A (n.797+22C>A)
| gnomAD v4 |
2 | g.182838390T>A | CA2521526560 | FRZB | c.797+19A>T (n.797+19A>T)
| gnomAD v4 |
2 | g.182838391C= | CA1312515824 | FRZB | c.797+18G= (n.797+18G=)
| |
2 | g.182838391C>G | CA2662236415 | FRZB | c.797+18G>C (n.797+18G>C)
| gnomAD v4 |
2 | g.182838391C>T | CA1312515825 | FRZB | c.797+18G>A (n.797+18G>A)
| dbSNP gnomAD v4 |
2 | g.182838392C>A | CA2662236416 | FRZB | c.797+17G>T (n.797+17G>T)
| gnomAD v4 |
2 | g.182838392C= | CA1312515826 | FRZB | c.797+17G= (n.797+17G=)
| |
2 | g.182838392C>T | CA2013931 | FRZB | c.797+17G>A (n.797+17G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838393T>C | CA2013932 | FRZB | c.797+16A>G (n.797+16A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838393T= | CA1312515827 | FRZB | c.797+16A= (n.797+16A=)
| |
2 | g.182838395A= | CA1312515828 | FRZB | c.797+14T= (n.797+14T=)
| |
2 | g.182838395A>C | CA2013933 | FRZB | c.797+14T>G (n.797+14T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838400G>A | CA2013934 | FRZB | c.797+9C>T (n.797+9C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838400G= | CA1312515829 | FRZB | c.797+9C= (n.797+9C=)
| |
2 | g.182838402G>A | CA2013935 | FRZB | c.797+7C>T (n.797+7C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838402G= | CA1312515830 | FRZB | c.797+7C= (n.797+7C=)
| |
2 | g.182838403A= | CA1312515831 | FRZB | c.797+6T= (n.797+6T=)
| |
2 | g.182838403A>C | CA538439240 | FRZB | c.797+6T>G (n.797+6T>G)
| dbSNP gnomAD v2 |
2 | g.182838403A>T | CA538439241 | FRZB | c.797+6T>A (n.797+6T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838405T>G | CA2662236417 | FRZB | c.797+4A>C (n.797+4A>C)
| gnomAD v4 |
2 | g.182838407A>C | CA349750135 | FRZB | c.797+2T>G (n.797+2T>G)
| |
2 | g.182838407A>G | CA349750136 | FRZB | c.797+2T>C (n.797+2T>C)
| |
2 | g.182838407A>T | CA349750137 | FRZB | c.797+2T>A (n.797+2T>A)
| |
2 | g.182838408C>A | CA349750138 | FRZB | c.797+1G>T (n.797+1G>T)
| |
2 | g.182838408C>G | CA349750139 | FRZB | c.797+1G>C (n.797+1G>C)
| |
2 | g.182838408C>T | CA349750140 | FRZB | c.797+1G>A (n.797+1G>A)
| |
2 | g.182838409C>A | CA349750141 | FRZB | c.797G>T (p.Arg266Ile)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838409C= | CA1312515832 | FRZB | c.797G= (p.Arg266=)
| |
2 | g.182838409C>G | CA349750143 | FRZB | c.797G>C (p.Arg266Thr)
| |
2 | g.182838409C>T | CA349750142 | FRZB | c.797G>A (p.Arg266Lys)
| |
2 | g.182838410T>A | CA349750144 | FRZB | c.796A>T (p.Arg266Ter)
| |
2 | g.182838410T>C | CA349750145 | FRZB | c.796A>G (p.Arg266Gly)
| |
2 | g.182838410T>G | CA430431976 | FRZB | c.796A>C (p.Arg266=)
| |
2 | g.182838411G>A | CA430431981 | FRZB | c.795C>T (p.Ser265=)
| |
2 | g.182838411G>C | CA430431980 | FRZB | c.795C>G (p.Ser265=)
| |
2 | g.182838411G>T | CA430431979 | FRZB | c.795C>A (p.Ser265=)
| |
2 | g.182838412del | CA2577180414 | FRZB | c.795del (p.Arg266AspfsTer9)
| |