5 | g.177993041A= | CA1603814094 | PROP1 | c.349T= (p.Phe117=)
| |
5 | g.177993041A>C | CA362378913 | PROP1 | c.349T>G (p.Phe117Val)
| |
5 | g.177993041A>G | CA3587536 | PROP1 | c.349T>C (p.Phe117Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177993041A>T | CA340724 | PROP1 | c.349T>A (p.Phe117Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177993042C>A | CA362378916 | PROP1 | c.348G>T (p.Trp116Cys)
| |
5 | g.177993042C>G | CA362378915 | PROP1 | c.348G>C (p.Trp116Cys)
| |
5 | g.177993042C>T | CA362378914 | PROP1 | c.348G>A (p.Trp116Ter)
| |
5 | g.177993043C>A | CA362378917 | PROP1 | c.347G>T (p.Trp116Leu)
| |
5 | g.177993043C>G | CA362378918 | PROP1 | c.347G>C (p.Trp116Ser)
| |
5 | g.177993043C>T | CA362378919 | PROP1 | c.347G>A (p.Trp116Ter)
| |
5 | g.177993044A>C | CA362378920 | PROP1 | c.346T>G (p.Trp116Gly)
| |
5 | g.177993044A>G | CA362378921 | PROP1 | c.346T>C (p.Trp116Arg)
| |
5 | g.177993044A>T | CA362378922 | PROP1 | c.346T>A (p.Trp116Arg)
| |
5 | g.177993045G>A | CA448355573 | PROP1 | c.345C>T (p.Val115=)
| |
5 | g.177993045G>C | CA448355575 | PROP1 | c.345C>G (p.Val115=)
| |
5 | g.177993045G>T | CA448355576 | PROP1 | c.345C>A (p.Val115=)
| gnomAD v4 COSMIC |
5 | g.177993046A>C | CA362378923 | PROP1 | c.344T>G (p.Val115Gly)
| |
5 | g.177993046A>G | CA362378924 | PROP1 | c.344T>C (p.Val115Ala)
| |
5 | g.177993046A>T | CA362378925 | PROP1 | c.344T>A (p.Val115Asp)
| |
5 | g.177993047C>A | CA362378926 | PROP1 | c.343G>T (p.Val115Phe)
| |
5 | g.177993047C>G | CA362378927 | PROP1 | c.343G>C (p.Val115Leu)
| |
5 | g.177993047C>T | CA362378928 | PROP1 | c.343G>A (p.Val115Ile)
| |
5 | g.177993048C>A | CA362378930 | PROP1 | c.343-1G>T (n.343-1G>T)
| |
5 | g.177993048C>G | CA362378931 | PROP1 | c.343-1G>C (n.343-1G>C)
| |
5 | g.177993048C>T | CA362378929 | PROP1 | c.343-1G>A (n.343-1G>A)
| ClinVar |
5 | g.177993049T>A | CA16041003 | PROP1 | c.343-2A>T (n.343-2A>T)
| ClinVar dbSNP |
5 | g.177993049T>C | CA362378932 | PROP1 | c.343-2A>G (n.343-2A>G)
| |
5 | g.177993049T>G | CA362378933 | PROP1 | c.343-2A>C (n.343-2A>C)
| |
5 | g.177993049T= | CA1603814095 | PROP1 | c.343-2A= (n.343-2A=)
| |
5 | g.177993050G>A | CA2578500628 | PROP1 | c.343-3C>T (n.343-3C>T)
| |
5 | g.177993052G>A | CA132897406 | PROP1 | c.343-5C>T (n.343-5C>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177993052G= | CA1603814096 | PROP1 | c.343-5C= (n.343-5C=)
| |
5 | g.177993052G>T | CA2499217791 | PROP1 | c.343-5C>A (n.343-5C>A)
| ClinVar dbSNP |
5 | g.177993053A= | CA1603814097 | PROP1 | c.343-6T= (n.343-6T=)
| |
5 | g.177993053A>T | CA564901098 | PROP1 | c.343-6T>A (n.343-6T>A)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177993055G>A | CA132897408 | PROP1 | c.343-8C>T (n.343-8C>T)
| dbSNP gnomAD v4 |
5 | g.177993055G= | CA1603814098 | PROP1 | c.343-8C= (n.343-8C=)
| |
5 | g.177993055G>T | CA3587537 | PROP1 | c.343-8C>A (n.343-8C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177993058dup | CA2676775199 | PROP1 | c.343-8dup (n.343-8dup)
| gnomAD v4 |
5 | g.177993056G>A | CA3587538 | PROP1 | c.343-9C>T (n.343-9C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177993056G= | CA1603814099 | PROP1 | c.343-9C= (n.343-9C=)
| |
5 | g.177993056G>T | CA2676775204 | PROP1 | c.343-9C>A (n.343-9C>A)
| ClinVar gnomAD v4 |
5 | g.177993057G>A | CA808117856 | PROP1 | c.343-10C>T (n.343-10C>T)
| dbSNP |
5 | g.177993057G>C | CA1603814101 | PROP1 | c.343-10C>G (n.343-10C>G)
| ClinVar dbSNP gnomAD v4 |
5 | g.177993057G= | CA1603814100 | PROP1 | c.343-10C= (n.343-10C=)
| |
5 | g.177993057G>T | CA2578500629 | PROP1 | c.343-10C>A (n.343-10C>A)
| |
5 | g.177993058G>A | CA3587539 | PROP1 | c.343-11C>T (n.343-11C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177993058G>C | CA564901099 | PROP1 | c.343-11C>G (n.343-11C>G)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177993058G= | CA1603814102 | PROP1 | c.343-11C= (n.343-11C=)
| |
5 | g.177993058G>T | CA2676775205 | PROP1 | c.343-11C>A (n.343-11C>A)
| gnomAD v4 |
5 | g.177993060A= | CA1603814103 | PROP1 | c.343-13T= (n.343-13T=)
| |
5 | g.177993060A>G | CA808117877 | PROP1 | c.343-13T>C (n.343-13T>C)
| dbSNP |
5 | g.177993062del | CA2676775206 | PROP1 | c.343-14del (n.343-14del)
| gnomAD v4 |
5 | g.177993062G>A | CA1603814105 | PROP1 | c.343-15C>T (n.343-15C>T)
| dbSNP |
5 | g.177993062G= | CA1603814104 | PROP1 | c.343-15C= (n.343-15C=)
| |
5 | g.177993062G>T | CA2676775208 | PROP1 | c.343-15C>A (n.343-15C>A)
| gnomAD v4 |
5 | g.177993064A= | CA1603814106 | PROP1 | c.343-17T= (n.343-17T=)
| |
5 | g.177993064A>G | CA808117880 | PROP1 | c.343-17T>C (n.343-17T>C)
| dbSNP |
5 | g.177993065C>A | CA808117883 | PROP1 | c.343-18G>T (n.343-18G>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177993065C= | CA1603814107 | PROP1 | c.343-18G= (n.343-18G=)
| |
5 | g.177993065C>G | CA1603814108 | PROP1 | c.343-18G>C (n.343-18G>C)
| ClinVar dbSNP |
5 | g.177993065C>T | CA564901100 | PROP1 | c.343-18G>A (n.343-18G>A)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177993066C>A | CA2676775210 | PROP1 | c.343-19G>T (n.343-19G>T)
| gnomAD v4 |
5 | g.177993068C>A | CA3587540 | PROP1 | c.343-21G>T (n.343-21G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177993068C= | CA1603814109 | PROP1 | c.343-21G= (n.343-21G=)
| |
5 | g.177993068C>T | CA2676775211 | PROP1 | c.343-21G>A (n.343-21G>A)
| gnomAD v4 |
5 | g.177993073G>C | CA2676775212 | PROP1 | c.343-26C>G (n.343-26C>G)
| gnomAD v4 |
5 | g.177993073G>T | CA2676775213 | PROP1 | c.343-26C>A (n.343-26C>A)
| gnomAD v4 |
5 | g.177993074A= | CA1603814110 | PROP1 | c.343-27T= (n.343-27T=)
| |
5 | g.177993074A>G | CA808117892 | PROP1 | c.343-27T>C (n.343-27T>C)
| dbSNP gnomAD v4 |
5 | g.177993075G>T | CA2676775214 | PROP1 | c.343-28C>A (n.343-28C>A)
| gnomAD v4 |
5 | g.177993076C>A | CA2676775215 | PROP1 | c.343-29G>T (n.343-29G>T)
| gnomAD v4 |
5 | g.177993076C= | CA1603814111 | PROP1 | c.343-29G= (n.343-29G=)
| |
5 | g.177993076C>T | CA3587541 | PROP1 | c.343-29G>A (n.343-29G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177993077C>T | CA2676775216 | PROP1 | c.343-30G>A (n.343-30G>A)
| gnomAD v4 |
5 | g.177993078C>T | CA2578500630 | PROP1 | c.343-31G>A (n.343-31G>A)
| gnomAD v4 |
5 | g.177993080C>A | CA2676775217 | PROP1 | c.343-33G>T (n.343-33G>T)
| gnomAD v4 |
5 | g.177993080C>T | CA2532438070 | PROP1 | c.343-33G>A (n.343-33G>A)
| gnomAD v4 |
5 | g.177993080_177993081insCT | CA2676775218 | PROP1 | c.343-34_343-33insAG (n.343-34_343-33insAG)
| gnomAD v4 |
5 | g.177993081A= | CA1603814112 | PROP1 | c.343-34T= (n.343-34T=)
| |
5 | g.177993081A>C | CA3587542 | PROP1 | c.343-34T>G (n.343-34T>G)
| dbSNP ExAC gnomAD v2 |
5 | g.177993081_177993082insTGTCAAGTGTGGG | CA2676775219 | PROP1 | c.343-35_343-34insCCCACACTTGACA (n.343-35_343-34insCCCACACTTGACA)
| gnomAD v4 |
5 | g.177993083T>A | CA132897425 | PROP1 | c.343-36A>T (n.343-36A>T)
| dbSNP |
5 | g.177993083T= | CA1603814113 | PROP1 | c.343-36A= (n.343-36A=)
| |
5 | g.177993084T>C | CA2676775220 | PROP1 | c.343-37A>G (n.343-37A>G)
| gnomAD v4 |
5 | g.177993085G>T | CA2578500631 | PROP1 | c.343-38C>A (n.343-38C>A)
| gnomAD v4 |
5 | g.177993087C= | CA1603814114 | PROP1 | c.343-40G= (n.343-40G=)
| |
5 | g.177993087C>G | CA1603814115 | PROP1 | c.343-40G>C (n.343-40G>C)
| dbSNP gnomAD v4 |
5 | g.177993087C>T | CA1603814116 | PROP1 | c.343-40G>A (n.343-40G>A)
| dbSNP |
5 | g.177993088A>G | CA2676775221 | PROP1 | c.343-41T>C (n.343-41T>C)
| gnomAD v4 |
5 | g.177993089T>C | CA564901101 | PROP1 | c.343-42A>G (n.343-42A>G)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177993089T>G | CA3587543 | PROP1 | c.343-42A>C (n.343-42A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177993089T= | CA1603814117 | PROP1 | c.343-42A= (n.343-42A=)
| |
5 | g.177993090A>G | CA2676775223 | PROP1 | c.343-43T>C (n.343-43T>C)
| gnomAD v4 |
5 | g.177993091G>T | CA2578500632 | PROP1 | c.343-44C>A (n.343-44C>A)
| gnomAD v4 |
5 | g.177993092del | CA2676775224 | PROP1 | c.343-44del (n.343-44del)
| gnomAD v4 |
5 | g.177993092G>A | CA3587544 | PROP1 | c.343-45C>T (n.343-45C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177993092G= | CA1603814118 | PROP1 | c.343-45C= (n.343-45C=)
| |
5 | g.177993094G>A | CA2578500634 | PROP1 | c.343-47C>T (n.343-47C>T)
| gnomAD v4 |
5 | g.177993094G= | CA1603814119 | PROP1 | c.343-47C= (n.343-47C=)
| |
5 | g.177993094G>T | CA564901102 | PROP1 | c.343-47C>A (n.343-47C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177993095dup | CA2578500633 | PROP1 | c.343-47dup (n.343-47dup)
| |
5 | g.177993095G>A | CA2676775226 | PROP1 | c.343-48C>T (n.343-48C>T)
| gnomAD v4 |
5 | g.177993095G= | CA1603814120 | PROP1 | c.343-48C= (n.343-48C=)
| |
5 | g.177993096T>G | CA564901104 | PROP1 | c.343-49A>C (n.343-49A>C)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177993096T= | CA1603814121 | PROP1 | c.343-49A= (n.343-49A=)
| |
5 | g.177993105_177993106insTGTCAATGACACCCTA | CA564901103 | PROP1 | c.343-49_343-48insTTGACATAGGGTGTCA (n.343-49_343-48insTTGACATAGGGTGTCA)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177993097G>A | CA564901105 | PROP1 | c.343-50C>T (n.343-50C>T)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.177993097G= | CA1603814122 | PROP1 | c.343-50C= (n.343-50C=)
| |
5 | g.177993097G>T | CA2676775230 | PROP1 | c.343-50C>A (n.343-50C>A)
| gnomAD v4 |
5 | g.177993099C>T | CA2676775231 | PROP1 | c.343-52G>A (n.343-52G>A)
| gnomAD v4 |
5 | g.177993100_177993101delinsAC | CA1603814123 | PROP1 | c.343-54_343-53delinsGT (n.343-54_343-53delinsGT)
| |
5 | g.177993101C= | CA1603814124 | PROP1 | c.343-54G= (n.343-54G=)
| |
5 | g.177993101C>G | CA808117937 | PROP1 | c.343-54G>C (n.343-54G>C)
| dbSNP |
5 | g.177993101C>T | CA2676775232 | PROP1 | c.343-54G>A (n.343-54G>A)
| gnomAD v4 |
5 | g.177993103del | CA564901106 | PROP1 | c.343-54del (n.343-54del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177993102C>A | CA2676775233 | PROP1 | c.343-55G>T (n.343-55G>T)
| gnomAD v4 |
5 | g.177993103C>A | CA2676775234 | PROP1 | c.343-56G>T (n.343-56G>T)
| gnomAD v4 |
5 | g.177993104T>A | CA2578500635 | PROP1 | c.343-57A>T (n.343-57A>T)
| |
5 | g.177993105A>C | CA2769598650 | PROP1 | c.343-58T>G (n.343-58T>G)
| |
5 | g.177993105A>G | CA2578500636 | PROP1 | c.343-58T>C (n.343-58T>C)
| gnomAD v4 |
5 | g.177993106C>A | CA2676775235 | PROP1 | c.343-59G>T (n.343-59G>T)
| gnomAD v4 |
5 | g.177993106C>T | CA2578500637 | PROP1 | c.343-59G>A (n.343-59G>A)
| |
5 | g.177993108C>T | CA2676775236 | PROP1 | c.343-61G>A (n.343-61G>A)
| gnomAD v4 |
5 | g.177993109C>A | CA2578500638 | PROP1 | c.343-62G>T (n.343-62G>T)
| gnomAD v4 |
5 | g.177993111A>G | CA2676775237 | PROP1 | c.343-64T>C (n.343-64T>C)
| gnomAD v4 |
5 | g.177993113G>A | CA132897438 | PROP1 | c.343-66C>T (n.343-66C>T)
| dbSNP gnomAD v4 |
5 | g.177993113G>C | CA2676775238 | PROP1 | c.343-66C>G (n.343-66C>G)
| gnomAD v4 |
5 | g.177993113G= | CA1603814125 | PROP1 | c.343-66C= (n.343-66C=)
| |
5 | g.177993113G>T | CA2578500639 | PROP1 | c.343-66C>A (n.343-66C>A)
| gnomAD v4 |
5 | g.177993114A= | CA1603814126 | PROP1 | c.343-67T= (n.343-67T=)
| |
5 | g.177993114A>G | CA2676775239 | PROP1 | c.343-67T>C (n.343-67T>C)
| gnomAD v4 |
5 | g.177993114A>T | CA132897457 | PROP1 | c.343-67T>A (n.343-67T>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.177993115C= | CA1603814127 | PROP1 | c.343-68G= (n.343-68G=)
| |
5 | g.177993115C>T | CA132897468 | PROP1 | c.343-68G>A (n.343-68G>A)
| dbSNP gnomAD v4 |
5 | g.177993118G>T | CA2676775240 | PROP1 | c.343-71C>A (n.343-71C>A)
| gnomAD v4 |
5 | g.177993119A>C | CA2676775243 | PROP1 | c.343-72T>G (n.343-72T>G)
| gnomAD v4 |
5 | g.177993119A>G | CA2676775241 | PROP1 | c.343-72T>C (n.343-72T>C)
| gnomAD v4 |
5 | g.177993119A>T | CA2676775242 | PROP1 | c.343-72T>A (n.343-72T>A)
| gnomAD v4 |
5 | g.177993120G>A | CA2676775244 | PROP1 | c.343-73C>T (n.343-73C>T)
| gnomAD v4 |
5 | g.177993120G>C | CA2769598652 | PROP1 | c.343-73C>G (n.343-73C>G)
| |
5 | g.177993121G>A | CA1603814129 | PROP1 | c.343-74C>T (n.343-74C>T)
| dbSNP gnomAD v4 |
5 | g.177993121G= | CA1603814128 | PROP1 | c.343-74C= (n.343-74C=)
| |
5 | g.177993121G>T | CA2578500640 | PROP1 | c.343-74C>A (n.343-74C>A)
| |
5 | g.177993122T>C | CA132897470 | PROP1 | c.343-75A>G (n.343-75A>G)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.177993122T= | CA1603814130 | PROP1 | c.343-75A= (n.343-75A=)
| |
5 | g.177993123G>A | CA132897487 | PROP1 | c.343-76C>T (n.343-76C>T)
| dbSNP COSMIC |
5 | g.177993123G= | CA1603814131 | PROP1 | c.343-76C= (n.343-76C=)
| |
5 | g.177993123G>T | CA1603814132 | PROP1 | c.343-76C>A (n.343-76C>A)
| dbSNP gnomAD v4 |
5 | g.177993124C>T | CA2578500641 | PROP1 | c.343-77G>A (n.343-77G>A)
| gnomAD v4 |
5 | g.177993125A>G | CA2578500642 | PROP1 | c.343-78T>C (n.343-78T>C)
| gnomAD v4 |
5 | g.177993126G>A | CA2676775245 | PROP1 | c.343-79C>T (n.343-79C>T)
| gnomAD v4 |
5 | g.177993127G>A | CA2676775246 | PROP1 | c.343-80C>T (n.343-80C>T)
| gnomAD v4 |
5 | g.177993128G>A | CA564901107 | PROP1 | c.343-81C>T (n.343-81C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177993128G= | CA1603814133 | PROP1 | c.343-81C= (n.343-81C=)
| |
5 | g.177993128G>T | CA2676775247 | PROP1 | c.343-81C>A (n.343-81C>A)
| gnomAD v4 |
5 | g.177993128_177993130delinsGAC | CA1603814134 | PROP1 | c.343-83_343-81delinsGTC (n.343-83_343-81delinsGTC)
| |
5 | g.177993129A>G | CA2676775248 | PROP1 | c.343-82T>C (n.343-82T>C)
| gnomAD v4 |
5 | g.177993130_177993131del | CA1603814135 | PROP1 | c.343-83_343-82del (n.343-83_343-82del)
| dbSNP gnomAD v4 |
5 | g.177993130C= | CA1603814136 | PROP1 | c.343-83G= (n.343-83G=)
| |
5 | g.177993130C>T | CA1603814137 | PROP1 | c.343-83G>A (n.343-83G>A)
| dbSNP gnomAD v4 |
5 | g.177993131A>G | CA2578500643 | PROP1 | c.343-84T>C (n.343-84T>C)
| gnomAD v4 |
5 | g.177993131_177993132del | CA2769598653 | PROP1 | c.343-85_343-84del (n.343-85_343-84del)
| |
5 | g.177993132G>T | CA2578500644 | PROP1 | c.343-85C>A (n.343-85C>A)
| gnomAD v4 |
5 | g.177993134G>A | CA2676775249 | PROP1 | c.343-87C>T (n.343-87C>T)
| gnomAD v4 |
5 | g.177993134G>C | CA1603814139 | PROP1 | c.343-87C>G (n.343-87C>G)
| dbSNP gnomAD v4 |
5 | g.177993134G= | CA1603814138 | PROP1 | c.343-87C= (n.343-87C=)
| |
5 | g.177993134G>T | CA2676775250 | PROP1 | c.343-87C>A (n.343-87C>A)
| gnomAD v4 |
5 | g.177993135del | CA2676775251 | PROP1 | c.343-88del (n.343-88del)
| gnomAD v4 |
5 | g.177993135A>G | CA2676775252 | PROP1 | c.343-88T>C (n.343-88T>C)
| gnomAD v4 |
5 | g.177993136G>A | CA132897490 | PROP1 | c.343-89C>T (n.343-89C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177993136G>C | CA2676775253 | PROP1 | c.343-89C>G (n.343-89C>G)
| gnomAD v4 |
5 | g.177993136G= | CA1603814140 | PROP1 | c.343-89C= (n.343-89C=)
| |
5 | g.177993136G>T | CA2578500645 | PROP1 | c.343-89C>A (n.343-89C>A)
| gnomAD v4 |
5 | g.177993137C>A | CA2676775254 | PROP1 | c.343-90G>T (n.343-90G>T)
| gnomAD v4 |
5 | g.177993137C>T | CA2676775255 | PROP1 | c.343-90G>A (n.343-90G>A)
| gnomAD v4 |
5 | g.177993138A= | CA1603814141 | PROP1 | c.343-91T= (n.343-91T=)
| |
5 | g.177993138A>G | CA132897492 | PROP1 | c.343-91T>C (n.343-91T>C)
| dbSNP gnomAD v4 |
5 | g.177993138A>T | CA2676775256 | PROP1 | c.343-91T>A (n.343-91T>A)
| gnomAD v4 |
5 | g.177993140G>A | CA2676775257 | PROP1 | c.343-93C>T (n.343-93C>T)
| gnomAD v4 |
5 | g.177993140G>C | CA2676775258 | PROP1 | c.343-93C>G (n.343-93C>G)
| gnomAD v4 |
5 | g.177993140G>T | CA2578500646 | PROP1 | c.343-93C>A (n.343-93C>A)
| gnomAD v4 |
5 | g.177993141C>A | CA2676775262 | PROP1 | c.343-94G>T (n.343-94G>T)
| gnomAD v4 |
5 | g.177993141C>G | CA2676775260 | PROP1 | c.343-94G>C (n.343-94G>C)
| gnomAD v4 |
5 | g.177993141C>T | CA2676775261 | PROP1 | c.343-94G>A (n.343-94G>A)
| gnomAD v4 |