Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2114389C>ACA493049409PKD1c.2634G>T (p.Val878=)
c.472+3100G>T
n.93G>T
c.1565G>T (n.1565G>T)
c.2688G>T (p.Val896=)
c.2616G>T (p.Val872=)
c.2562G>T (p.Val854=)
c.2481G>T (p.Val827=)
c.2424G>T (p.Val808=)
c.510G>T (p.Val170=)
n.2703G>T
c.-416G>T (n.-416G>T)
16g.2114389C>GCA493049410PKD1c.2634G>C (p.Val878=)
c.472+3100G>C
n.93G>C
c.1565G>C (n.1565G>C)
c.2688G>C (p.Val896=)
c.2616G>C (p.Val872=)
c.2562G>C (p.Val854=)
c.2481G>C (p.Val827=)
c.2424G>C (p.Val808=)
c.510G>C (p.Val170=)
n.2703G>C
c.-416G>C (n.-416G>C)
16g.2114389C>TCA493049411PKD1c.2634G>A (p.Val878=)
c.472+3100G>A
n.93G>A
c.1565G>A (n.1565G>A)
c.2688G>A (p.Val896=)
c.2616G>A (p.Val872=)
c.2562G>A (p.Val854=)
c.2481G>A (p.Val827=)
c.2424G>A (p.Val808=)
c.510G>A (p.Val170=)
n.2703G>A
c.-416G>A (n.-416G>A)
16g.2114390A>CCA394387274PKD1c.2633T>G (p.Val878Gly)
c.472+3099T>G
n.92T>G
c.1564T>G (n.1564T>G)
c.2687T>G (p.Val896Gly)
c.2615T>G (p.Val872Gly)
c.2561T>G (p.Val854Gly)
c.2480T>G (p.Val827Gly)
c.2423T>G (p.Val808Gly)
c.509T>G (p.Val170Gly)
n.2702T>G
c.-417T>G (n.-417T>G)
16g.2114390A>GCA394387271PKD1c.2633T>C (p.Val878Ala)
c.472+3099T>C
n.92T>C
c.1564T>C (n.1564T>C)
c.2687T>C (p.Val896Ala)
c.2615T>C (p.Val872Ala)
c.2561T>C (p.Val854Ala)
c.2480T>C (p.Val827Ala)
c.2423T>C (p.Val808Ala)
c.509T>C (p.Val170Ala)
n.2702T>C
c.-417T>C (n.-417T>C)
16g.2114390A>TCA394387272PKD1c.2633T>A (p.Val878Glu)
c.472+3099T>A
n.92T>A
c.1564T>A (n.1564T>A)
c.2687T>A (p.Val896Glu)
c.2615T>A (p.Val872Glu)
c.2561T>A (p.Val854Glu)
c.2480T>A (p.Val827Glu)
c.2423T>A (p.Val808Glu)
c.509T>A (p.Val170Glu)
n.2702T>A
c.-417T>A (n.-417T>A)
16g.2114391C>ACA394387275PKD1c.2632G>T (p.Val878Leu)
c.472+3098G>T
n.91G>T
c.1563G>T (n.1563G>T)
c.2686G>T (p.Val896Leu)
c.2614G>T (p.Val872Leu)
c.2560G>T (p.Val854Leu)
c.2479G>T (p.Val827Leu)
c.2422G>T (p.Val808Leu)
c.508G>T (p.Val170Leu)
n.2701G>T
c.-418G>T (n.-418G>T)
16g.2114391C=CA2202049682PKD1c.2632G= (p.Val878=)
c.472+3098G=
n.91G=
c.1563G= (n.1563G=)
c.2686G= (p.Val896=)
c.2614G= (p.Val872=)
c.2560G= (p.Val854=)
c.2479G= (p.Val827=)
c.2422G= (p.Val808=)
c.508G= (p.Val170=)
n.2701G=
c.-418G= (n.-418G=)
16g.2114391C>GCA394387277PKD1c.2632G>C (p.Val878Leu)
c.472+3098G>C
n.91G>C
c.1563G>C (n.1563G>C)
c.2686G>C (p.Val896Leu)
c.2614G>C (p.Val872Leu)
c.2560G>C (p.Val854Leu)
c.2479G>C (p.Val827Leu)
c.2422G>C (p.Val808Leu)
c.508G>C (p.Val170Leu)
n.2701G>C
c.-418G>C (n.-418G>C)
16g.2114391C>TCA394387278PKD1c.2632G>A (p.Val878Met)
c.472+3098G>A
n.91G>A
c.1563G>A (n.1563G>A)
c.2686G>A (p.Val896Met)
c.2614G>A (p.Val872Met)
c.2560G>A (p.Val854Met)
c.2479G>A (p.Val827Met)
c.2422G>A (p.Val808Met)
c.508G>A (p.Val170Met)
n.2701G>A
c.-418G>A (n.-418G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.2114392C>ACA493049418PKD1c.2631G>T (p.Leu877=)
c.472+3097G>T
n.90G>T
c.1562G>T (n.1562G>T)
c.2685G>T (p.Leu895=)
c.2613G>T (p.Leu871=)
c.2559G>T (p.Leu853=)
c.2478G>T (p.Leu826=)
c.2421G>T (p.Leu807=)
c.507G>T (p.Leu169=)
n.2700G>T
c.-419G>T (n.-419G>T)
16g.2114392C>GCA493049420PKD1c.2631G>C (p.Leu877=)
c.472+3097G>C
n.90G>C
c.1562G>C (n.1562G>C)
c.2685G>C (p.Leu895=)
c.2613G>C (p.Leu871=)
c.2559G>C (p.Leu853=)
c.2478G>C (p.Leu826=)
c.2421G>C (p.Leu807=)
c.507G>C (p.Leu169=)
n.2700G>C
c.-419G>C (n.-419G>C)
 gnomAD v4
16g.2114392C>TCA493049422PKD1c.2631G>A (p.Leu877=)
c.472+3097G>A
n.90G>A
c.1562G>A (n.1562G>A)
c.2685G>A (p.Leu895=)
c.2613G>A (p.Leu871=)
c.2559G>A (p.Leu853=)
c.2478G>A (p.Leu826=)
c.2421G>A (p.Leu807=)
c.507G>A (p.Leu169=)
n.2700G>A
c.-419G>A (n.-419G>A)
16g.2114400_2114404dupCA658658385PKD1c.2627_2631dup (p.Val878ProfsTer22)
c.472+3093_472+3097dup
n.86_90dup
c.1558_1562dup (n.1558_1562dup)
c.2681_2685dup (p.Val896ProfsTer22)
c.2609_2613dup (p.Val872ProfsTer22)
c.2555_2559dup (p.Val854ProfsTer22)
c.2474_2478dup (p.Val827ProfsTer22)
c.2417_2421dup (p.Val808ProfsTer22)
c.503_507dup (p.Val170ProfsTer22)
n.2696_2700dup
c.-423_-419dup (n.-423_-419dup)
 ClinVar dbSNP
16g.2114400_2114404delCA2695222550PKD1c.2627_2631del (p.Ala876GlyfsTer27)
c.472+3093_472+3097del
n.86_90del
c.1558_1562del (n.1558_1562del)
c.2681_2685del (p.Ala894GlyfsTer27)
c.2609_2613del (p.Ala870GlyfsTer27)
c.2555_2559del (p.Ala852GlyfsTer27)
c.2474_2478del (p.Ala825GlyfsTer27)
c.2417_2421del (p.Ala806GlyfsTer27)
c.503_507del (p.Ala168GlyfsTer27)
n.2696_2700del
c.-423_-419del (n.-423_-419del)
16g.2114393A>CCA394387280PKD1c.2630T>G (p.Leu877Arg)
c.472+3096T>G
n.89T>G
c.1561T>G (n.1561T>G)
c.2684T>G (p.Leu895Arg)
c.2612T>G (p.Leu871Arg)
c.2558T>G (p.Leu853Arg)
c.2477T>G (p.Leu826Arg)
c.2420T>G (p.Leu807Arg)
c.506T>G (p.Leu169Arg)
n.2699T>G
c.-420T>G (n.-420T>G)
16g.2114393A>GCA394387281PKD1c.2630T>C (p.Leu877Pro)
c.472+3096T>C
n.89T>C
c.1561T>C (n.1561T>C)
c.2684T>C (p.Leu895Pro)
c.2612T>C (p.Leu871Pro)
c.2558T>C (p.Leu853Pro)
c.2477T>C (p.Leu826Pro)
c.2420T>C (p.Leu807Pro)
c.506T>C (p.Leu169Pro)
n.2699T>C
c.-420T>C (n.-420T>C)
16g.2114393A>TCA394387283PKD1c.2630T>A (p.Leu877Gln)
c.472+3096T>A
n.89T>A
c.1561T>A (n.1561T>A)
c.2684T>A (p.Leu895Gln)
c.2612T>A (p.Leu871Gln)
c.2558T>A (p.Leu853Gln)
c.2477T>A (p.Leu826Gln)
c.2420T>A (p.Leu807Gln)
c.506T>A (p.Leu169Gln)
n.2699T>A
c.-420T>A (n.-420T>A)
16g.2114394G>ACA493049425PKD1c.2629C>T (p.Leu877=)
c.472+3095C>T
n.88C>T
c.1560C>T (n.1560C>T)
c.2683C>T (p.Leu895=)
c.2611C>T (p.Leu871=)
c.2557C>T (p.Leu853=)
c.2476C>T (p.Leu826=)
c.2419C>T (p.Leu807=)
c.505C>T (p.Leu169=)
n.2698C>T
c.-421C>T (n.-421C>T)
 gnomAD v4
16g.2114394G>CCA394387284PKD1c.2629C>G (p.Leu877Val)
c.472+3095C>G
n.88C>G
c.1560C>G (n.1560C>G)
c.2683C>G (p.Leu895Val)
c.2611C>G (p.Leu871Val)
c.2557C>G (p.Leu853Val)
c.2476C>G (p.Leu826Val)
c.2419C>G (p.Leu807Val)
c.505C>G (p.Leu169Val)
n.2698C>G
c.-421C>G (n.-421C>G)
 dbSNP gnomAD v2 gnomAD v4
16g.2114394G=CA2202049683PKD1c.2629C= (p.Leu877=)
c.472+3095C=
n.88C=
c.1560C= (n.1560C=)
c.2683C= (p.Leu895=)
c.2611C= (p.Leu871=)
c.2557C= (p.Leu853=)
c.2476C= (p.Leu826=)
c.2419C= (p.Leu807=)
c.505C= (p.Leu169=)
n.2698C=
c.-421C= (n.-421C=)
16g.2114394G>TCA7833150PKD1c.2629C>A (p.Leu877Met)
c.472+3095C>A
n.88C>A
c.1560C>A (n.1560C>A)
c.2683C>A (p.Leu895Met)
c.2611C>A (p.Leu871Met)
c.2557C>A (p.Leu853Met)
c.2476C>A (p.Leu826Met)
c.2419C>A (p.Leu807Met)
c.505C>A (p.Leu169Met)
n.2698C>A
c.-421C>A (n.-421C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114395G>ACA493049426PKD1c.2628C>T (p.Ala876=)
c.472+3094C>T
n.87C>T
c.1559C>T (n.1559C>T)
c.2682C>T (p.Ala894=)
c.2610C>T (p.Ala870=)
c.2556C>T (p.Ala852=)
c.2475C>T (p.Ala825=)
c.2418C>T (p.Ala806=)
c.504C>T (p.Ala168=)
n.2697C>T
c.-422C>T (n.-422C>T)
16g.2114395G>CCA493049427PKD1c.2628C>G (p.Ala876=)
c.472+3094C>G
n.87C>G
c.1559C>G (n.1559C>G)
c.2682C>G (p.Ala894=)
c.2610C>G (p.Ala870=)
c.2556C>G (p.Ala852=)
c.2475C>G (p.Ala825=)
c.2418C>G (p.Ala806=)
c.504C>G (p.Ala168=)
n.2697C>G
c.-422C>G (n.-422C>G)
 dbSNP gnomAD v4
16g.2114395G=CA2202049684PKD1c.2628C= (p.Ala876=)
c.472+3094C=
n.87C=
c.1559C= (n.1559C=)
c.2682C= (p.Ala894=)
c.2610C= (p.Ala870=)
c.2556C= (p.Ala852=)
c.2475C= (p.Ala825=)
c.2418C= (p.Ala806=)
c.504C= (p.Ala168=)
n.2697C=
c.-422C= (n.-422C=)
16g.2114395G>TCA493049428PKD1c.2628C>A (p.Ala876=)
c.472+3094C>A
n.87C>A
c.1559C>A (n.1559C>A)
c.2682C>A (p.Ala894=)
c.2610C>A (p.Ala870=)
c.2556C>A (p.Ala852=)
c.2475C>A (p.Ala825=)
c.2418C>A (p.Ala806=)
c.504C>A (p.Ala168=)
n.2697C>A
c.-422C>A (n.-422C>A)
16g.2114396G>ACA394387285PKD1c.2627C>T (p.Ala876Val)
c.472+3093C>T
n.86C>T
c.1558C>T (n.1558C>T)
c.2681C>T (p.Ala894Val)
c.2609C>T (p.Ala870Val)
c.2555C>T (p.Ala852Val)
c.2474C>T (p.Ala825Val)
c.2417C>T (p.Ala806Val)
c.503C>T (p.Ala168Val)
n.2696C>T
c.-423C>T (n.-423C>T)
 gnomAD v4
16g.2114396G>CCA394387286PKD1c.2627C>G (p.Ala876Gly)
c.472+3093C>G
n.86C>G
c.1558C>G (n.1558C>G)
c.2681C>G (p.Ala894Gly)
c.2609C>G (p.Ala870Gly)
c.2555C>G (p.Ala852Gly)
c.2474C>G (p.Ala825Gly)
c.2417C>G (p.Ala806Gly)
c.503C>G (p.Ala168Gly)
n.2696C>G
c.-423C>G (n.-423C>G)
 gnomAD v4
16g.2114396G>TCA394387287PKD1c.2627C>A (p.Ala876Asp)
c.472+3093C>A
n.86C>A
c.1558C>A (n.1558C>A)
c.2681C>A (p.Ala894Asp)
c.2609C>A (p.Ala870Asp)
c.2555C>A (p.Ala852Asp)
c.2474C>A (p.Ala825Asp)
c.2417C>A (p.Ala806Asp)
c.503C>A (p.Ala168Asp)
n.2696C>A
c.-423C>A (n.-423C>A)
16g.2114397C>ACA7833151PKD1c.2626G>T (p.Ala876Ser)
c.472+3092G>T
n.85G>T
c.1557G>T (n.1557G>T)
c.2680G>T (p.Ala894Ser)
c.2608G>T (p.Ala870Ser)
c.2554G>T (p.Ala852Ser)
c.2473G>T (p.Ala825Ser)
c.2416G>T (p.Ala806Ser)
c.502G>T (p.Ala168Ser)
n.2695G>T
c.-424G>T (n.-424G>T)
 dbSNP ExAC gnomAD v4
16g.2114397C=CA2202049685PKD1c.2626G= (p.Ala876=)
c.472+3092G=
n.85G=
c.1557G= (n.1557G=)
c.2680G= (p.Ala894=)
c.2608G= (p.Ala870=)
c.2554G= (p.Ala852=)
c.2473G= (p.Ala825=)
c.2416G= (p.Ala806=)
c.502G= (p.Ala168=)
n.2695G=
c.-424G= (n.-424G=)
16g.2114397C>GCA394387291PKD1c.2626G>C (p.Ala876Pro)
c.472+3092G>C
n.85G>C
c.1557G>C (n.1557G>C)
c.2680G>C (p.Ala894Pro)
c.2608G>C (p.Ala870Pro)
c.2554G>C (p.Ala852Pro)
c.2473G>C (p.Ala825Pro)
c.2416G>C (p.Ala806Pro)
c.502G>C (p.Ala168Pro)
n.2695G>C
c.-424G>C (n.-424G>C)
16g.2114397C>TCA394387289PKD1c.2626G>A (p.Ala876Thr)
c.472+3092G>A
n.85G>A
c.1557G>A (n.1557G>A)
c.2680G>A (p.Ala894Thr)
c.2608G>A (p.Ala870Thr)
c.2554G>A (p.Ala852Thr)
c.2473G>A (p.Ala825Thr)
c.2416G>A (p.Ala806Thr)
c.502G>A (p.Ala168Thr)
n.2695G>A
c.-424G>A (n.-424G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.2114398A>CCA493049433PKD1c.2625T>G (p.Pro875=)
c.472+3091T>G
n.84T>G
c.1556T>G (n.1556T>G)
c.2679T>G (p.Pro893=)
c.2607T>G (p.Pro869=)
c.2553T>G (p.Pro851=)
c.2472T>G (p.Pro824=)
c.2415T>G (p.Pro805=)
c.501T>G (p.Pro167=)
n.2694T>G
c.-425T>G (n.-425T>G)
16g.2114398A>GCA493049434PKD1c.2625T>C (p.Pro875=)
c.472+3091T>C
n.84T>C
c.1556T>C (n.1556T>C)
c.2679T>C (p.Pro893=)
c.2607T>C (p.Pro869=)
c.2553T>C (p.Pro851=)
c.2472T>C (p.Pro824=)
c.2415T>C (p.Pro805=)
c.501T>C (p.Pro167=)
n.2694T>C
c.-425T>C (n.-425T>C)
16g.2114398A>TCA493049435PKD1c.2625T>A (p.Pro875=)
c.472+3091T>A
n.84T>A
c.1556T>A (n.1556T>A)
c.2679T>A (p.Pro893=)
c.2607T>A (p.Pro869=)
c.2553T>A (p.Pro851=)
c.2472T>A (p.Pro824=)
c.2415T>A (p.Pro805=)
c.501T>A (p.Pro167=)
n.2694T>A
c.-425T>A (n.-425T>A)
16g.2114399G>ACA394387293PKD1c.2624C>T (p.Pro875Leu)
c.472+3090C>T
n.83C>T
c.1555C>T (n.1555C>T)
c.2678C>T (p.Pro893Leu)
c.2606C>T (p.Pro869Leu)
c.2552C>T (p.Pro851Leu)
c.2471C>T (p.Pro824Leu)
c.2414C>T (p.Pro805Leu)
c.500C>T (p.Pro167Leu)
n.2693C>T
c.-426C>T (n.-426C>T)
 ClinVar
16g.2114399G>CCA394387294PKD1c.2624C>G (p.Pro875Arg)
c.472+3090C>G
n.83C>G
c.1555C>G (n.1555C>G)
c.2678C>G (p.Pro893Arg)
c.2606C>G (p.Pro869Arg)
c.2552C>G (p.Pro851Arg)
c.2471C>G (p.Pro824Arg)
c.2414C>G (p.Pro805Arg)
c.500C>G (p.Pro167Arg)
n.2693C>G
c.-426C>G (n.-426C>G)
 dbSNP gnomAD v4
16g.2114399G=CA2202049686PKD1c.2624C= (p.Pro875=)
c.472+3090C=
n.83C=
c.1555C= (n.1555C=)
c.2678C= (p.Pro893=)
c.2606C= (p.Pro869=)
c.2552C= (p.Pro851=)
c.2471C= (p.Pro824=)
c.2414C= (p.Pro805=)
c.500C= (p.Pro167=)
n.2693C=
c.-426C= (n.-426C=)
16g.2114399G>TCA394387296PKD1c.2624C>A (p.Pro875His)
c.472+3090C>A
n.83C>A
c.1555C>A (n.1555C>A)
c.2678C>A (p.Pro893His)
c.2606C>A (p.Pro869His)
c.2552C>A (p.Pro851His)
c.2471C>A (p.Pro824His)
c.2414C>A (p.Pro805His)
c.500C>A (p.Pro167His)
n.2693C>A
c.-426C>A (n.-426C>A)
 gnomAD v4
16g.2114400G>ACA394387297PKD1c.2623C>T (p.Pro875Ser)
c.472+3089C>T
n.82C>T
c.1554C>T (n.1554C>T)
c.2677C>T (p.Pro893Ser)
c.2605C>T (p.Pro869Ser)
c.2551C>T (p.Pro851Ser)
c.2470C>T (p.Pro824Ser)
c.2413C>T (p.Pro805Ser)
c.499C>T (p.Pro167Ser)
n.2692C>T
c.-427C>T (n.-427C>T)
 gnomAD v4
16g.2114400G>CCA394387298PKD1c.2623C>G (p.Pro875Ala)
c.472+3089C>G
n.82C>G
c.1554C>G (n.1554C>G)
c.2677C>G (p.Pro893Ala)
c.2605C>G (p.Pro869Ala)
c.2551C>G (p.Pro851Ala)
c.2470C>G (p.Pro824Ala)
c.2413C>G (p.Pro805Ala)
c.499C>G (p.Pro167Ala)
n.2692C>G
c.-427C>G (n.-427C>G)
16g.2114400G=CA2202049687PKD1c.2623C= (p.Pro875=)
c.472+3089C=
n.82C=
c.1554C= (n.1554C=)
c.2677C= (p.Pro893=)
c.2605C= (p.Pro869=)
c.2551C= (p.Pro851=)
c.2470C= (p.Pro824=)
c.2413C= (p.Pro805=)
c.499C= (p.Pro167=)
n.2692C=
c.-427C= (n.-427C=)
16g.2114400G>TCA394387299PKD1c.2623C>A (p.Pro875Thr)
c.472+3089C>A
n.82C>A
c.1554C>A (n.1554C>A)
c.2677C>A (p.Pro893Thr)
c.2605C>A (p.Pro869Thr)
c.2551C>A (p.Pro851Thr)
c.2470C>A (p.Pro824Thr)
c.2413C>A (p.Pro805Thr)
c.499C>A (p.Pro167Thr)
n.2692C>A
c.-427C>A (n.-427C>A)
 dbSNP gnomAD v2 gnomAD v4
16g.2114401G>ACA493049443PKD1c.2622C>T (p.Cys874=)
c.472+3088C>T
n.81C>T
c.1553C>T (n.1553C>T)
c.2676C>T (p.Cys892=)
c.2604C>T (p.Cys868=)
c.2550C>T (p.Cys850=)
c.2469C>T (p.Cys823=)
c.2412C>T (p.Cys804=)
c.498C>T (p.Cys166=)
n.2691C>T
c.-428C>T (n.-428C>T)
 COSMIC
16g.2114401G>CCA394387300PKD1c.2622C>G (p.Cys874Trp)
c.472+3088C>G
n.81C>G
c.1553C>G (n.1553C>G)
c.2676C>G (p.Cys892Trp)
c.2604C>G (p.Cys868Trp)
c.2550C>G (p.Cys850Trp)
c.2469C>G (p.Cys823Trp)
c.2412C>G (p.Cys804Trp)
c.498C>G (p.Cys166Trp)
n.2691C>G
c.-428C>G (n.-428C>G)
16g.2114401G>TCA394387301PKD1c.2622C>A (p.Cys874Ter)
c.472+3088C>A
n.81C>A
c.1553C>A (n.1553C>A)
c.2676C>A (p.Cys892Ter)
c.2604C>A (p.Cys868Ter)
c.2550C>A (p.Cys850Ter)
c.2469C>A (p.Cys823Ter)
c.2412C>A (p.Cys804Ter)
c.498C>A (p.Cys166Ter)
n.2691C>A
c.-428C>A (n.-428C>A)
 ClinVar
16g.2114401_2114405delinsGCAGACA2202049688PKD1c.2618_2622delinsTCTGC (p.Val873=)
c.472+3084_472+3088delinsTCTGC
n.77_81delinsTCTGC
c.1549_1553delinsTCTGC (n.1549_1553delinsTCTGC)
c.2672_2676delinsTCTGC (p.Val891=)
c.2600_2604delinsTCTGC (p.Val867=)
c.2546_2550delinsTCTGC (p.Val849=)
c.2465_2469delinsTCTGC (p.Val822=)
c.2408_2412delinsTCTGC (p.Val803=)
c.494_498delinsTCTGC (p.Val165=)
n.2687_2691delinsTCTGC
c.-432_-428delinsTCTGC (n.-432_-428delinsTCTGC)
16g.2114402C>ACA394387302PKD1c.2621G>T (p.Cys874Phe)
c.472+3087G>T
n.80G>T
c.1552G>T (n.1552G>T)
c.2675G>T (p.Cys892Phe)
c.2603G>T (p.Cys868Phe)
c.2549G>T (p.Cys850Phe)
c.2468G>T (p.Cys823Phe)
c.2411G>T (p.Cys804Phe)
c.497G>T (p.Cys166Phe)
n.2690G>T
c.-429G>T (n.-429G>T)
 gnomAD v4
16g.2114402C>GCA394387303PKD1c.2621G>C (p.Cys874Ser)
c.472+3087G>C
n.80G>C
c.1552G>C (n.1552G>C)
c.2675G>C (p.Cys892Ser)
c.2603G>C (p.Cys868Ser)
c.2549G>C (p.Cys850Ser)
c.2468G>C (p.Cys823Ser)
c.2411G>C (p.Cys804Ser)
c.497G>C (p.Cys166Ser)
n.2690G>C
c.-429G>C (n.-429G>C)
 gnomAD v4
16g.2114402C>TCA394387304PKD1c.2621G>A (p.Cys874Tyr)
c.472+3087G>A
n.80G>A
c.1552G>A (n.1552G>A)
c.2675G>A (p.Cys892Tyr)
c.2603G>A (p.Cys868Tyr)
c.2549G>A (p.Cys850Tyr)
c.2468G>A (p.Cys823Tyr)
c.2411G>A (p.Cys804Tyr)
c.497G>A (p.Cys166Tyr)
n.2690G>A
c.-429G>A (n.-429G>A)
 gnomAD v4
16g.2114404_2114407delCA915949015PKD1c.2618_2621del (p.Val873AlafsTer24)
c.472+3084_472+3087del
n.77_80del
c.1549_1552del (n.1549_1552del)
c.2672_2675del (p.Val891AlafsTer24)
c.2600_2603del (p.Val867AlafsTer24)
c.2546_2549del (p.Val849AlafsTer24)
c.2465_2468del (p.Val822AlafsTer24)
c.2408_2411del (p.Val803AlafsTer24)
c.494_497del (p.Val165AlafsTer24)
n.2687_2690del
c.-432_-429del (n.-432_-429del)
 ClinVar dbSNP
16g.2114403A>CCA394387305PKD1c.2620T>G (p.Cys874Gly)
c.472+3086T>G
n.79T>G
c.1551T>G (n.1551T>G)
c.2674T>G (p.Cys892Gly)
c.2602T>G (p.Cys868Gly)
c.2548T>G (p.Cys850Gly)
c.2467T>G (p.Cys823Gly)
c.2410T>G (p.Cys804Gly)
c.496T>G (p.Cys166Gly)
n.2689T>G
c.-430T>G (n.-430T>G)
16g.2114403A>GCA394387306PKD1c.2620T>C (p.Cys874Arg)
c.472+3086T>C
n.79T>C
c.1551T>C (n.1551T>C)
c.2674T>C (p.Cys892Arg)
c.2602T>C (p.Cys868Arg)
c.2548T>C (p.Cys850Arg)
c.2467T>C (p.Cys823Arg)
c.2410T>C (p.Cys804Arg)
c.496T>C (p.Cys166Arg)
n.2689T>C
c.-430T>C (n.-430T>C)
 gnomAD v4
16g.2114403A>TCA394387307PKD1c.2620T>A (p.Cys874Ser)
c.472+3086T>A
n.79T>A
c.1551T>A (n.1551T>A)
c.2674T>A (p.Cys892Ser)
c.2602T>A (p.Cys868Ser)
c.2548T>A (p.Cys850Ser)
c.2467T>A (p.Cys823Ser)
c.2410T>A (p.Cys804Ser)
c.496T>A (p.Cys166Ser)
n.2689T>A
c.-430T>A (n.-430T>A)
 gnomAD v4
16g.2114404_2114405delCA2695222551PKD1c.2619_2620del (p.Cys874ProfsTer?)
c.472+3085_472+3086del
n.78_79del
c.1550_1551del (n.1550_1551del)
c.2673_2674del (p.Cys892ProfsTer?)
c.2601_2602del (p.Cys868ProfsTer?)
c.2547_2548del (p.Cys850ProfsTer?)
c.2466_2467del (p.Cys823ProfsTer?)
c.2409_2410del (p.Cys804ProfsTer?)
c.495_496del (p.Cys166ProfsTer?)
n.2688_2689del
c.-431_-430del (n.-431_-430del)
16g.2114404G>ACA493049450PKD1c.2619C>T (p.Val873=)
c.472+3085C>T
n.78C>T
c.1550C>T (n.1550C>T)
c.2673C>T (p.Val891=)
c.2601C>T (p.Val867=)
c.2547C>T (p.Val849=)
c.2466C>T (p.Val822=)
c.2409C>T (p.Val803=)
c.495C>T (p.Val165=)
n.2688C>T
c.-431C>T (n.-431C>T)
 gnomAD v4
16g.2114404G>CCA493049449PKD1c.2619C>G (p.Val873=)
c.472+3085C>G
n.78C>G
c.1550C>G (n.1550C>G)
c.2673C>G (p.Val891=)
c.2601C>G (p.Val867=)
c.2547C>G (p.Val849=)
c.2466C>G (p.Val822=)
c.2409C>G (p.Val803=)
c.495C>G (p.Val165=)
n.2688C>G
c.-431C>G (n.-431C>G)
 gnomAD v4
16g.2114404G>TCA493049447PKD1c.2619C>A (p.Val873=)
c.472+3085C>A
n.78C>A
c.1550C>A (n.1550C>A)
c.2673C>A (p.Val891=)
c.2601C>A (p.Val867=)
c.2547C>A (p.Val849=)
c.2466C>A (p.Val822=)
c.2409C>A (p.Val803=)
c.495C>A (p.Val165=)
n.2688C>A
c.-431C>A (n.-431C>A)
16g.2114404dupCA2631141944PKD1c.2619dup (p.Cys874LeufsTer?)
c.472+3085dup
n.78dup
c.1550dup (n.1550dup)
c.2673dup (p.Cys892LeufsTer?)
c.2601dup (p.Cys868LeufsTer?)
c.2547dup (p.Cys850LeufsTer?)
c.2466dup (p.Cys823LeufsTer?)
c.2409dup (p.Cys804LeufsTer?)
c.495dup (p.Cys166LeufsTer?)
n.2688dup
c.-431dup (n.-431dup)
 gnomAD v4
16g.2114405A=CA2202049689PKD1c.2618T= (p.Val873=)
c.472+3084T=
n.77T=
c.1549T= (n.1549T=)
c.2672T= (p.Val891=)
c.2600T= (p.Val867=)
c.2546T= (p.Val849=)
c.2465T= (p.Val822=)
c.2408T= (p.Val803=)
c.494T= (p.Val165=)
n.2687T=
c.-432T= (n.-432T=)
16g.2114405A>CCA394387311PKD1c.2618T>G (p.Val873Gly)
c.472+3084T>G
n.77T>G
c.1549T>G (n.1549T>G)
c.2672T>G (p.Val891Gly)
c.2600T>G (p.Val867Gly)
c.2546T>G (p.Val849Gly)
c.2465T>G (p.Val822Gly)
c.2408T>G (p.Val803Gly)
c.494T>G (p.Val165Gly)
n.2687T>G
c.-432T>G (n.-432T>G)
16g.2114405A>GCA276782786PKD1c.2618T>C (p.Val873Ala)
c.472+3084T>C
n.77T>C
c.1549T>C (n.1549T>C)
c.2672T>C (p.Val891Ala)
c.2600T>C (p.Val867Ala)
c.2546T>C (p.Val849Ala)
c.2465T>C (p.Val822Ala)
c.2408T>C (p.Val803Ala)
c.494T>C (p.Val165Ala)
n.2687T>C
c.-432T>C (n.-432T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114405A>TCA394387308PKD1c.2618T>A (p.Val873Asp)
c.472+3084T>A
n.77T>A
c.1549T>A (n.1549T>A)
c.2672T>A (p.Val891Asp)
c.2600T>A (p.Val867Asp)
c.2546T>A (p.Val849Asp)
c.2465T>A (p.Val822Asp)
c.2408T>A (p.Val803Asp)
c.494T>A (p.Val165Asp)
n.2687T>A
c.-432T>A (n.-432T>A)
16g.2114405delinsGGCA2695222552PKD1c.2618delinsCC (p.Val873AlafsTer?)
c.472+3084delinsCC
n.77delinsCC
c.1549delinsCC (n.1549delinsCC)
c.2672delinsCC (p.Val891AlafsTer?)
c.2600delinsCC (p.Val867AlafsTer?)
c.2546delinsCC (p.Val849AlafsTer?)
c.2465delinsCC (p.Val822AlafsTer?)
c.2408delinsCC (p.Val803AlafsTer?)
c.494delinsCC (p.Val165AlafsTer?)
n.2687delinsCC
c.-432delinsCC (n.-432delinsCC)
16g.2114406C>ACA394387312PKD1c.2617G>T (p.Val873Phe)
c.472+3083G>T
n.76G>T
c.1548G>T (n.1548G>T)
c.2671G>T (p.Val891Phe)
c.2599G>T (p.Val867Phe)
c.2545G>T (p.Val849Phe)
c.2464G>T (p.Val822Phe)
c.2407G>T (p.Val803Phe)
c.493G>T (p.Val165Phe)
n.2686G>T
c.-433G>T (n.-433G>T)
 gnomAD v4
16g.2114406C>GCA394387314PKD1c.2617G>C (p.Val873Leu)
c.472+3083G>C
n.76G>C
c.1548G>C (n.1548G>C)
c.2671G>C (p.Val891Leu)
c.2599G>C (p.Val867Leu)
c.2545G>C (p.Val849Leu)
c.2464G>C (p.Val822Leu)
c.2407G>C (p.Val803Leu)
c.493G>C (p.Val165Leu)
n.2686G>C
c.-433G>C (n.-433G>C)
16g.2114406C>TCA394387315PKD1c.2617G>A (p.Val873Ile)
c.472+3083G>A
n.76G>A
c.1548G>A (n.1548G>A)
c.2671G>A (p.Val891Ile)
c.2599G>A (p.Val867Ile)
c.2545G>A (p.Val849Ile)
c.2464G>A (p.Val822Ile)
c.2407G>A (p.Val803Ile)
c.493G>A (p.Val165Ile)
n.2686G>A
c.-433G>A (n.-433G>A)
16g.2114407A=CA2202049690PKD1c.2616T= (p.Asn872=)
c.472+3082T=
n.75T=
c.1547T= (n.1547T=)
c.2670T= (p.Asn890=)
c.2598T= (p.Asn866=)
c.2544T= (p.Asn848=)
c.2463T= (p.Asn821=)
c.2406T= (p.Asn802=)
c.492T= (p.Asn164=)
n.2685T=
c.-434T= (n.-434T=)
16g.2114407A>CCA394387317PKD1c.2616T>G (p.Asn872Lys)
c.472+3082T>G
n.75T>G
c.1547T>G (n.1547T>G)
c.2670T>G (p.Asn890Lys)
c.2598T>G (p.Asn866Lys)
c.2544T>G (p.Asn848Lys)
c.2463T>G (p.Asn821Lys)
c.2406T>G (p.Asn802Lys)
c.492T>G (p.Asn164Lys)
n.2685T>G
c.-434T>G (n.-434T>G)
16g.2114407A>GCA7833152PKD1c.2616T>C (p.Asn872=)
c.472+3082T>C
n.75T>C
c.1547T>C (n.1547T>C)
c.2670T>C (p.Asn890=)
c.2598T>C (p.Asn866=)
c.2544T>C (p.Asn848=)
c.2463T>C (p.Asn821=)
c.2406T>C (p.Asn802=)
c.492T>C (p.Asn164=)
n.2685T>C
c.-434T>C (n.-434T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114407A>TCA394387319PKD1c.2616T>A (p.Asn872Lys)
c.472+3082T>A
n.75T>A
c.1547T>A (n.1547T>A)
c.2670T>A (p.Asn890Lys)
c.2598T>A (p.Asn866Lys)
c.2544T>A (p.Asn848Lys)
c.2463T>A (p.Asn821Lys)
c.2406T>A (p.Asn802Lys)
c.492T>A (p.Asn164Lys)
n.2685T>A
c.-434T>A (n.-434T>A)
 gnomAD v4
16g.2114408T>ACA394387324PKD1c.2615A>T (p.Asn872Ile)
c.472+3081A>T
n.74A>T
c.1546A>T (n.1546A>T)
c.2669A>T (p.Asn890Ile)
c.2597A>T (p.Asn866Ile)
c.2543A>T (p.Asn848Ile)
c.2462A>T (p.Asn821Ile)
c.2405A>T (p.Asn802Ile)
c.491A>T (p.Asn164Ile)
n.2684A>T
c.-435A>T (n.-435A>T)
16g.2114408T>CCA394387320PKD1c.2615A>G (p.Asn872Ser)
c.472+3081A>G
n.74A>G
c.1546A>G (n.1546A>G)
c.2669A>G (p.Asn890Ser)
c.2597A>G (p.Asn866Ser)
c.2543A>G (p.Asn848Ser)
c.2462A>G (p.Asn821Ser)
c.2405A>G (p.Asn802Ser)
c.491A>G (p.Asn164Ser)
n.2684A>G
c.-435A>G (n.-435A>G)
16g.2114408T>GCA394387322PKD1c.2615A>C (p.Asn872Thr)
c.472+3081A>C
n.74A>C
c.1546A>C (n.1546A>C)
c.2669A>C (p.Asn890Thr)
c.2597A>C (p.Asn866Thr)
c.2543A>C (p.Asn848Thr)
c.2462A>C (p.Asn821Thr)
c.2405A>C (p.Asn802Thr)
c.491A>C (p.Asn164Thr)
n.2684A>C
c.-435A>C (n.-435A>C)
 dbSNP gnomAD v4
16g.2114408T=CA2202049691PKD1c.2615A= (p.Asn872=)
c.472+3081A=
n.74A=
c.1546A= (n.1546A=)
c.2669A= (p.Asn890=)
c.2597A= (p.Asn866=)
c.2543A= (p.Asn848=)
c.2462A= (p.Asn821=)
c.2405A= (p.Asn802=)
c.491A= (p.Asn164=)
n.2684A=
c.-435A= (n.-435A=)
16g.2114409T>ACA394387325PKD1c.2614A>T (p.Asn872Tyr)
c.472+3080A>T
n.73A>T
c.1545A>T (n.1545A>T)
c.2668A>T (p.Asn890Tyr)
c.2596A>T (p.Asn866Tyr)
c.2542A>T (p.Asn848Tyr)
c.2461A>T (p.Asn821Tyr)
c.2404A>T (p.Asn802Tyr)
c.490A>T (p.Asn164Tyr)
n.2683A>T
c.-436A>T (n.-436A>T)
16g.2114409T>CCA394387327PKD1c.2614A>G (p.Asn872Asp)
c.472+3080A>G
n.73A>G
c.1545A>G (n.1545A>G)
c.2668A>G (p.Asn890Asp)
c.2596A>G (p.Asn866Asp)
c.2542A>G (p.Asn848Asp)
c.2461A>G (p.Asn821Asp)
c.2404A>G (p.Asn802Asp)
c.490A>G (p.Asn164Asp)
n.2683A>G
c.-436A>G (n.-436A>G)
16g.2114409T>GCA394387328PKD1c.2614A>C (p.Asn872His)
c.472+3080A>C
n.73A>C
c.1545A>C (n.1545A>C)
c.2668A>C (p.Asn890His)
c.2596A>C (p.Asn866His)
c.2542A>C (p.Asn848His)
c.2461A>C (p.Asn821His)
c.2404A>C (p.Asn802His)
c.490A>C (p.Asn164His)
n.2683A>C
c.-436A>C (n.-436A>C)
16g.2114410C>ACA394387330PKD1c.2613G>T (p.Glu871Asp)
c.472+3079G>T
n.72G>T
c.1544G>T (n.1544G>T)
c.2667G>T (p.Glu889Asp)
c.2595G>T (p.Glu865Asp)
c.2541G>T (p.Glu847Asp)
c.2460G>T (p.Glu820Asp)
c.2403G>T (p.Glu801Asp)
c.489G>T (p.Glu163Asp)
n.2682G>T
c.-437G>T (n.-437G>T)
16g.2114410C>GCA394387332PKD1c.2613G>C (p.Glu871Asp)
c.472+3079G>C
n.72G>C
c.1544G>C (n.1544G>C)
c.2667G>C (p.Glu889Asp)
c.2595G>C (p.Glu865Asp)
c.2541G>C (p.Glu847Asp)
c.2460G>C (p.Glu820Asp)
c.2403G>C (p.Glu801Asp)
c.489G>C (p.Glu163Asp)
n.2682G>C
c.-437G>C (n.-437G>C)
16g.2114410C>TCA493049467PKD1c.2613G>A (p.Glu871=)
c.472+3079G>A
n.72G>A
c.1544G>A (n.1544G>A)
c.2667G>A (p.Glu889=)
c.2595G>A (p.Glu865=)
c.2541G>A (p.Glu847=)
c.2460G>A (p.Glu820=)
c.2403G>A (p.Glu801=)
c.489G>A (p.Glu163=)
n.2682G>A
c.-437G>A (n.-437G>A)
 gnomAD v4
16g.2114411T>ACA394387337PKD1c.2612A>T (p.Glu871Val)
c.472+3078A>T
n.71A>T
c.1543A>T (n.1543A>T)
c.2666A>T (p.Glu889Val)
c.2594A>T (p.Glu865Val)
c.2540A>T (p.Glu847Val)
c.2459A>T (p.Glu820Val)
c.2402A>T (p.Glu801Val)
c.488A>T (p.Glu163Val)
n.2681A>T
c.-438A>T (n.-438A>T)
16g.2114411T>CCA394387334PKD1c.2612A>G (p.Glu871Gly)
c.472+3078A>G
n.71A>G
c.1543A>G (n.1543A>G)
c.2666A>G (p.Glu889Gly)
c.2594A>G (p.Glu865Gly)
c.2540A>G (p.Glu847Gly)
c.2459A>G (p.Glu820Gly)
c.2402A>G (p.Glu801Gly)
c.488A>G (p.Glu163Gly)
n.2681A>G
c.-438A>G (n.-438A>G)
 gnomAD v4
16g.2114411T>GCA394387335PKD1c.2612A>C (p.Glu871Ala)
c.472+3078A>C
n.71A>C
c.1543A>C (n.1543A>C)
c.2666A>C (p.Glu889Ala)
c.2594A>C (p.Glu865Ala)
c.2540A>C (p.Glu847Ala)
c.2459A>C (p.Glu820Ala)
c.2402A>C (p.Glu801Ala)
c.488A>C (p.Glu163Ala)
n.2681A>C
c.-438A>C (n.-438A>C)
16g.2114412C>ACA394387340PKD1c.2611G>T (p.Glu871Ter)
c.472+3077G>T
n.70G>T
c.1542G>T (n.1542G>T)
c.2665G>T (p.Glu889Ter)
c.2593G>T (p.Glu865Ter)
c.2539G>T (p.Glu847Ter)
c.2458G>T (p.Glu820Ter)
c.2401G>T (p.Glu801Ter)
c.487G>T (p.Glu163Ter)
n.2680G>T
c.-439G>T (n.-439G>T)
 COSMIC
16g.2114412C>GCA394387342PKD1c.2611G>C (p.Glu871Gln)
c.472+3077G>C
n.70G>C
c.1542G>C (n.1542G>C)
c.2665G>C (p.Glu889Gln)
c.2593G>C (p.Glu865Gln)
c.2539G>C (p.Glu847Gln)
c.2458G>C (p.Glu820Gln)
c.2401G>C (p.Glu801Gln)
c.487G>C (p.Glu163Gln)
n.2680G>C
c.-439G>C (n.-439G>C)
16g.2114412C>TCA394387343PKD1c.2611G>A (p.Glu871Lys)
c.472+3077G>A
n.70G>A
c.1542G>A (n.1542G>A)
c.2665G>A (p.Glu889Lys)
c.2593G>A (p.Glu865Lys)
c.2539G>A (p.Glu847Lys)
c.2458G>A (p.Glu820Lys)
c.2401G>A (p.Glu801Lys)
c.487G>A (p.Glu163Lys)
n.2680G>A
c.-439G>A (n.-439G>A)
16g.2114413A>CCA394387344PKD1c.2610T>G (p.Phe870Leu)
c.472+3076T>G
n.69T>G
c.1541T>G (n.1541T>G)
c.2664T>G (p.Phe888Leu)
c.2592T>G (p.Phe864Leu)
c.2538T>G (p.Phe846Leu)
c.2457T>G (p.Phe819Leu)
c.2400T>G (p.Phe800Leu)
c.486T>G (p.Phe162Leu)
n.2679T>G
c.-440T>G (n.-440T>G)
 gnomAD v4
16g.2114413A>GCA493049469PKD1c.2610T>C (p.Phe870=)
c.472+3076T>C
n.69T>C
c.1541T>C (n.1541T>C)
c.2664T>C (p.Phe888=)
c.2592T>C (p.Phe864=)
c.2538T>C (p.Phe846=)
c.2457T>C (p.Phe819=)
c.2400T>C (p.Phe800=)
c.486T>C (p.Phe162=)
n.2679T>C
c.-440T>C (n.-440T>C)
16g.2114413A>TCA394387345PKD1c.2610T>A (p.Phe870Leu)
c.472+3076T>A
n.69T>A
c.1541T>A (n.1541T>A)
c.2664T>A (p.Phe888Leu)
c.2592T>A (p.Phe864Leu)
c.2538T>A (p.Phe846Leu)
c.2457T>A (p.Phe819Leu)
c.2400T>A (p.Phe800Leu)
c.486T>A (p.Phe162Leu)
n.2679T>A
c.-440T>A (n.-440T>A)
16g.2114415dupCA2739290256PKD1c.2610dup (p.Glu871Ter)
c.472+3076dup
n.69dup
c.1541dup (n.1541dup)
c.2664dup (p.Glu889Ter)
c.2592dup (p.Glu865Ter)
c.2538dup (p.Glu847Ter)
c.2457dup (p.Glu820Ter)
c.2400dup (p.Glu801Ter)
c.486dup (p.Glu163Ter)
n.2679dup
c.-440dup (n.-440dup)
16g.2114414A>CCA394387346PKD1c.2609T>G (p.Phe870Cys)
c.472+3075T>G
n.68T>G
c.1540T>G (n.1540T>G)
c.2663T>G (p.Phe888Cys)
c.2591T>G (p.Phe864Cys)
c.2537T>G (p.Phe846Cys)
c.2456T>G (p.Phe819Cys)
c.2399T>G (p.Phe800Cys)
c.485T>G (p.Phe162Cys)
n.2678T>G
c.-441T>G (n.-441T>G)
16g.2114414A>GCA394387347PKD1c.2609T>C (p.Phe870Ser)
c.472+3075T>C
n.68T>C
c.1540T>C (n.1540T>C)
c.2663T>C (p.Phe888Ser)
c.2591T>C (p.Phe864Ser)
c.2537T>C (p.Phe846Ser)
c.2456T>C (p.Phe819Ser)
c.2399T>C (p.Phe800Ser)
c.485T>C (p.Phe162Ser)
n.2678T>C
c.-441T>C (n.-441T>C)
16g.2114414A>TCA394387349PKD1c.2609T>A (p.Phe870Tyr)
c.472+3075T>A
n.68T>A
c.1540T>A (n.1540T>A)
c.2663T>A (p.Phe888Tyr)
c.2591T>A (p.Phe864Tyr)
c.2537T>A (p.Phe846Tyr)
c.2456T>A (p.Phe819Tyr)
c.2399T>A (p.Phe800Tyr)
c.485T>A (p.Phe162Tyr)
n.2678T>A
c.-441T>A (n.-441T>A)
16g.2114415A=CA2202049692PKD1c.2608T= (p.Phe870=)
c.472+3074T=
n.67T=
c.1539T= (n.1539T=)
c.2662T= (p.Phe888=)
c.2590T= (p.Phe864=)
c.2536T= (p.Phe846=)
c.2455T= (p.Phe819=)
c.2398T= (p.Phe800=)
c.484T= (p.Phe162=)
n.2677T=
c.-442T= (n.-442T=)
16g.2114415A>CCA394387351PKD1c.2608T>G (p.Phe870Val)
c.472+3074T>G
n.67T>G
c.1539T>G (n.1539T>G)
c.2662T>G (p.Phe888Val)
c.2590T>G (p.Phe864Val)
c.2536T>G (p.Phe846Val)
c.2455T>G (p.Phe819Val)
c.2398T>G (p.Phe800Val)
c.484T>G (p.Phe162Val)
n.2677T>G
c.-442T>G (n.-442T>G)
16g.2114415A>GCA394387352PKD1c.2608T>C (p.Phe870Leu)
c.472+3074T>C
n.67T>C
c.1539T>C (n.1539T>C)
c.2662T>C (p.Phe888Leu)
c.2590T>C (p.Phe864Leu)
c.2536T>C (p.Phe846Leu)
c.2455T>C (p.Phe819Leu)
c.2398T>C (p.Phe800Leu)
c.484T>C (p.Phe162Leu)
n.2677T>C
c.-442T>C (n.-442T>C)
16g.2114415A>TCA394387354PKD1c.2608T>A (p.Phe870Ile)
c.472+3074T>A
n.67T>A
c.1539T>A (n.1539T>A)
c.2662T>A (p.Phe888Ile)
c.2590T>A (p.Phe864Ile)
c.2536T>A (p.Phe846Ile)
c.2455T>A (p.Phe819Ile)
c.2398T>A (p.Phe800Ile)
c.484T>A (p.Phe162Ile)
n.2677T>A
c.-442T>A (n.-442T>A)
 dbSNP
16g.2114416delCA2695222553PKD1c.2607del (p.Phe870LeufsTer28)
c.472+3073del
n.66del
c.1538del (n.1538del)
c.2661del (p.Phe888LeufsTer28)
c.2589del (p.Phe864LeufsTer28)
c.2535del (p.Phe846LeufsTer28)
c.2454del (p.Phe819LeufsTer28)
c.2397del (p.Phe800LeufsTer28)
c.483del (p.Phe162LeufsTer28)
n.2676del
c.-443del (n.-443del)
16g.2114416G>ACA493049475PKD1c.2607C>T (p.Arg869=)
c.472+3073C>T
n.66C>T
c.1538C>T (n.1538C>T)
c.2661C>T (p.Arg887=)
c.2589C>T (p.Arg863=)
c.2535C>T (p.Arg845=)
c.2454C>T (p.Arg818=)
c.2397C>T (p.Arg799=)
c.483C>T (p.Arg161=)
n.2676C>T
c.-443C>T (n.-443C>T)
16g.2114416G>CCA493049476PKD1c.2607C>G (p.Arg869=)
c.472+3073C>G
n.66C>G
c.1538C>G (n.1538C>G)
c.2661C>G (p.Arg887=)
c.2589C>G (p.Arg863=)
c.2535C>G (p.Arg845=)
c.2454C>G (p.Arg818=)
c.2397C>G (p.Arg799=)
c.483C>G (p.Arg161=)
n.2676C>G
c.-443C>G (n.-443C>G)
16g.2114416G=CA2202049693PKD1c.2607C= (p.Arg869=)
c.472+3073C=
n.66C=
c.1538C= (n.1538C=)
c.2661C= (p.Arg887=)
c.2589C= (p.Arg863=)
c.2535C= (p.Arg845=)
c.2454C= (p.Arg818=)
c.2397C= (p.Arg799=)
c.483C= (p.Arg161=)
n.2676C=
c.-443C= (n.-443C=)
16g.2114416G>TCA7833153PKD1c.2607C>A (p.Arg869=)
c.472+3073C>A
n.66C>A
c.1538C>A (n.1538C>A)
c.2661C>A (p.Arg887=)
c.2589C>A (p.Arg863=)
c.2535C>A (p.Arg845=)
c.2454C>A (p.Arg818=)
c.2397C>A (p.Arg799=)
c.483C>A (p.Arg161=)
n.2676C>A
c.-443C>A (n.-443C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114417C>ACA394387357PKD1c.2606G>T (p.Arg869Leu)
c.472+3072G>T
n.65G>T
c.1537G>T (n.1537G>T)
c.2660G>T (p.Arg887Leu)
c.2588G>T (p.Arg863Leu)
c.2534G>T (p.Arg845Leu)
c.2453G>T (p.Arg818Leu)
c.2396G>T (p.Arg799Leu)
c.482G>T (p.Arg161Leu)
n.2675G>T
c.-444G>T (n.-444G>T)
16g.2114417C=CA2202049694PKD1c.2606G= (p.Arg869=)
c.472+3072G=
n.65G=
c.1537G= (n.1537G=)
c.2660G= (p.Arg887=)
c.2588G= (p.Arg863=)
c.2534G= (p.Arg845=)
c.2453G= (p.Arg818=)
c.2396G= (p.Arg799=)
c.482G= (p.Arg161=)
n.2675G=
c.-444G= (n.-444G=)
16g.2114417C>GCA394387359PKD1c.2606G>C (p.Arg869Pro)
c.472+3072G>C
n.65G>C
c.1537G>C (n.1537G>C)
c.2660G>C (p.Arg887Pro)
c.2588G>C (p.Arg863Pro)
c.2534G>C (p.Arg845Pro)
c.2453G>C (p.Arg818Pro)
c.2396G>C (p.Arg799Pro)
c.482G>C (p.Arg161Pro)
n.2675G>C
c.-444G>C (n.-444G>C)
 ClinVar dbSNP gnomAD v4
16g.2114417C>TCA276782788PKD1c.2606G>A (p.Arg869His)
c.472+3072G>A
n.65G>A
c.1537G>A (n.1537G>A)
c.2660G>A (p.Arg887His)
c.2588G>A (p.Arg863His)
c.2534G>A (p.Arg845His)
c.2453G>A (p.Arg818His)
c.2396G>A (p.Arg799His)
c.482G>A (p.Arg161His)
n.2675G>A
c.-444G>A (n.-444G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114417_2114418delinsCGCA2202049695PKD1c.2605_2606delinsCG (p.Arg869=)
c.472+3071_472+3072delinsCG
n.64_65delinsCG
c.1536_1537delinsCG (n.1536_1537delinsCG)
c.2659_2660delinsCG (p.Arg887=)
c.2587_2588delinsCG (p.Arg863=)
c.2533_2534delinsCG (p.Arg845=)
c.2452_2453delinsCG (p.Arg818=)
c.2395_2396delinsCG (p.Arg799=)
c.481_482delinsCG (p.Arg161=)
n.2674_2675delinsCG
c.-445_-444delinsCG (n.-445_-444delinsCG)
16g.2114418G>ACA7833155PKD1c.2605C>T (p.Arg869Cys)
c.472+3071C>T
n.64C>T
c.1536C>T (n.1536C>T)
c.2659C>T (p.Arg887Cys)
c.2587C>T (p.Arg863Cys)
c.2533C>T (p.Arg845Cys)
c.2452C>T (p.Arg818Cys)
c.2395C>T (p.Arg799Cys)
c.481C>T (p.Arg161Cys)
n.2674C>T
c.-445C>T (n.-445C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114418G>CCA394387360PKD1c.2605C>G (p.Arg869Gly)
c.472+3071C>G
n.64C>G
c.1536C>G (n.1536C>G)
c.2659C>G (p.Arg887Gly)
c.2587C>G (p.Arg863Gly)
c.2533C>G (p.Arg845Gly)
c.2452C>G (p.Arg818Gly)
c.2395C>G (p.Arg799Gly)
c.481C>G (p.Arg161Gly)
n.2674C>G
c.-445C>G (n.-445C>G)
 dbSNP gnomAD v2 gnomAD v4
16g.2114418G=CA2202049697PKD1c.2605C= (p.Arg869=)
c.472+3071C=
n.64C=
c.1536C= (n.1536C=)
c.2659C= (p.Arg887=)
c.2587C= (p.Arg863=)
c.2533C= (p.Arg845=)
c.2452C= (p.Arg818=)
c.2395C= (p.Arg799=)
c.481C= (p.Arg161=)
n.2674C=
c.-445C= (n.-445C=)
16g.2114418G>TCA7833154PKD1c.2605C>A (p.Arg869Ser)
c.472+3071C>A
n.64C>A
c.1536C>A (n.1536C>A)
c.2659C>A (p.Arg887Ser)
c.2587C>A (p.Arg863Ser)
c.2533C>A (p.Arg845Ser)
c.2452C>A (p.Arg818Ser)
c.2395C>A (p.Arg799Ser)
c.481C>A (p.Arg161Ser)
n.2674C>A
c.-445C>A (n.-445C>A)
 dbSNP ExAC gnomAD v2
16g.2114420delCA2202049696PKD1c.2605del (p.Arg869AlafsTer29)
c.472+3071del
n.64del
c.1536del (n.1536del)
c.2659del (p.Arg887AlafsTer29)
c.2587del (p.Arg863AlafsTer29)
c.2533del (p.Arg845AlafsTer29)
c.2452del (p.Arg818AlafsTer29)
c.2395del (p.Arg799AlafsTer29)
c.481del (p.Arg161AlafsTer29)
n.2674del
c.-445del (n.-445del)
 ClinVar dbSNP
16g.2114419G>ACA493049483PKD1c.2604C>T (p.Ala868=)
c.472+3070C>T
n.63C>T
c.1535C>T (n.1535C>T)
c.2658C>T (p.Ala886=)
c.2586C>T (p.Ala862=)
c.2532C>T (p.Ala844=)
c.2451C>T (p.Ala817=)
c.2394C>T (p.Ala798=)
c.480C>T (p.Ala160=)
n.2673C>T
c.-446C>T (n.-446C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2114419G>CCA493049484PKD1c.2604C>G (p.Ala868=)
c.472+3070C>G
n.63C>G
c.1535C>G (n.1535C>G)
c.2658C>G (p.Ala886=)
c.2586C>G (p.Ala862=)
c.2532C>G (p.Ala844=)
c.2451C>G (p.Ala817=)
c.2394C>G (p.Ala798=)
c.480C>G (p.Ala160=)
n.2673C>G
c.-446C>G (n.-446C>G)
16g.2114419G=CA2202049698PKD1c.2604C= (p.Ala868=)
c.472+3070C=
n.63C=
c.1535C= (n.1535C=)
c.2658C= (p.Ala886=)
c.2586C= (p.Ala862=)
c.2532C= (p.Ala844=)
c.2451C= (p.Ala817=)
c.2394C= (p.Ala798=)
c.480C= (p.Ala160=)
n.2673C=
c.-446C= (n.-446C=)
16g.2114419G>TCA493049485PKD1c.2604C>A (p.Ala868=)
c.472+3070C>A
n.63C>A
c.1535C>A (n.1535C>A)
c.2658C>A (p.Ala886=)
c.2586C>A (p.Ala862=)
c.2532C>A (p.Ala844=)
c.2451C>A (p.Ala817=)
c.2394C>A (p.Ala798=)
c.480C>A (p.Ala160=)
n.2673C>A
c.-446C>A (n.-446C>A)
16g.2114420G>ACA394387362PKD1c.2603C>T (p.Ala868Val)
c.472+3069C>T
n.62C>T
c.1534C>T (n.1534C>T)
c.2657C>T (p.Ala886Val)
c.2585C>T (p.Ala862Val)
c.2531C>T (p.Ala844Val)
c.2450C>T (p.Ala817Val)
c.2393C>T (p.Ala798Val)
c.479C>T (p.Ala160Val)
n.2672C>T
c.-447C>T (n.-447C>T)
 gnomAD v4
16g.2114420G>CCA394387364PKD1c.2603C>G (p.Ala868Gly)
c.472+3069C>G
n.62C>G
c.1534C>G (n.1534C>G)
c.2657C>G (p.Ala886Gly)
c.2585C>G (p.Ala862Gly)
c.2531C>G (p.Ala844Gly)
c.2450C>G (p.Ala817Gly)
c.2393C>G (p.Ala798Gly)
c.479C>G (p.Ala160Gly)
n.2672C>G
c.-447C>G (n.-447C>G)
16g.2114420G>TCA394387366PKD1c.2603C>A (p.Ala868Asp)
c.472+3069C>A
n.62C>A
c.1534C>A (n.1534C>A)
c.2657C>A (p.Ala886Asp)
c.2585C>A (p.Ala862Asp)
c.2531C>A (p.Ala844Asp)
c.2450C>A (p.Ala817Asp)
c.2393C>A (p.Ala798Asp)
c.479C>A (p.Ala160Asp)
n.2672C>A
c.-447C>A (n.-447C>A)
16g.2114421C>ACA394387369PKD1c.2602G>T (p.Ala868Ser)
c.472+3068G>T
n.61G>T
c.1533G>T (n.1533G>T)
c.2656G>T (p.Ala886Ser)
c.2584G>T (p.Ala862Ser)
c.2530G>T (p.Ala844Ser)
c.2449G>T (p.Ala817Ser)
c.2392G>T (p.Ala798Ser)
c.478G>T (p.Ala160Ser)
n.2671G>T
c.-448G>T (n.-448G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2114421C=CA2202049699PKD1c.2602G= (p.Ala868=)
c.472+3068G=
n.61G=
c.1533G= (n.1533G=)
c.2656G= (p.Ala886=)
c.2584G= (p.Ala862=)
c.2530G= (p.Ala844=)
c.2449G= (p.Ala817=)
c.2392G= (p.Ala798=)
c.478G= (p.Ala160=)
n.2671G=
c.-448G= (n.-448G=)
16g.2114421C>GCA394387367PKD1c.2602G>C (p.Ala868Pro)
c.472+3068G>C
n.61G>C
c.1533G>C (n.1533G>C)
c.2656G>C (p.Ala886Pro)
c.2584G>C (p.Ala862Pro)
c.2530G>C (p.Ala844Pro)
c.2449G>C (p.Ala817Pro)
c.2392G>C (p.Ala798Pro)
c.478G>C (p.Ala160Pro)
n.2671G>C
c.-448G>C (n.-448G>C)
16g.2114421C>TCA7833156PKD1c.2602G>A (p.Ala868Thr)
c.472+3068G>A
n.61G>A
c.1533G>A (n.1533G>A)
c.2656G>A (p.Ala886Thr)
c.2584G>A (p.Ala862Thr)
c.2530G>A (p.Ala844Thr)
c.2449G>A (p.Ala817Thr)
c.2392G>A (p.Ala798Thr)
c.478G>A (p.Ala160Thr)
n.2671G>A
c.-448G>A (n.-448G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114422G>ACA7833157PKD1c.2601C>T (p.Ser867=)
c.472+3067C>T
n.60C>T
c.1532C>T (n.1532C>T)
c.2655C>T (p.Ser885=)
c.2583C>T (p.Ser861=)
c.2529C>T (p.Ser843=)
c.2448C>T (p.Ser816=)
c.2391C>T (p.Ser797=)
c.477C>T (p.Ser159=)
n.2670C>T
c.-449C>T (n.-449C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114422G>CCA394387372PKD1c.2601C>G (p.Ser867Arg)
c.472+3067C>G
n.60C>G
c.1532C>G (n.1532C>G)
c.2655C>G (p.Ser885Arg)
c.2583C>G (p.Ser861Arg)
c.2529C>G (p.Ser843Arg)
c.2448C>G (p.Ser816Arg)
c.2391C>G (p.Ser797Arg)
c.477C>G (p.Ser159Arg)
n.2670C>G
c.-449C>G (n.-449C>G)
16g.2114422G=CA2202049700PKD1c.2601C= (p.Ser867=)
c.472+3067C=
n.60C=
c.1532C= (n.1532C=)
c.2655C= (p.Ser885=)
c.2583C= (p.Ser861=)
c.2529C= (p.Ser843=)
c.2448C= (p.Ser816=)
c.2391C= (p.Ser797=)
c.477C= (p.Ser159=)
n.2670C=
c.-449C= (n.-449C=)
16g.2114422G>TCA394387373PKD1c.2601C>A (p.Ser867Arg)
c.472+3067C>A
n.60C>A
c.1532C>A (n.1532C>A)
c.2655C>A (p.Ser885Arg)
c.2583C>A (p.Ser861Arg)
c.2529C>A (p.Ser843Arg)
c.2448C>A (p.Ser816Arg)
c.2391C>A (p.Ser797Arg)
c.477C>A (p.Ser159Arg)
n.2670C>A
c.-449C>A (n.-449C>A)
16g.2114423C>ACA394387375PKD1c.2600G>T (p.Ser867Ile)
c.472+3066G>T
n.59G>T
c.1531G>T (n.1531G>T)
c.2654G>T (p.Ser885Ile)
c.2582G>T (p.Ser861Ile)
c.2528G>T (p.Ser843Ile)
c.2447G>T (p.Ser816Ile)
c.2390G>T (p.Ser797Ile)
c.476G>T (p.Ser159Ile)
n.2669G>T
c.-450G>T (n.-450G>T)
 dbSNP
16g.2114423C=CA2202049701PKD1c.2600G= (p.Ser867=)
c.472+3066G=
n.59G=
c.1531G= (n.1531G=)
c.2654G= (p.Ser885=)
c.2582G= (p.Ser861=)
c.2528G= (p.Ser843=)
c.2447G= (p.Ser816=)
c.2390G= (p.Ser797=)
c.476G= (p.Ser159=)
n.2669G=
c.-450G= (n.-450G=)
16g.2114423C>GCA394387376PKD1c.2600G>C (p.Ser867Thr)
c.472+3066G>C
n.59G>C
c.1531G>C (n.1531G>C)
c.2654G>C (p.Ser885Thr)
c.2582G>C (p.Ser861Thr)
c.2528G>C (p.Ser843Thr)
c.2447G>C (p.Ser816Thr)
c.2390G>C (p.Ser797Thr)
c.476G>C (p.Ser159Thr)
n.2669G>C
c.-450G>C (n.-450G>C)
16g.2114423C>TCA394387377PKD1c.2600G>A (p.Ser867Asn)
c.472+3066G>A
n.59G>A
c.1531G>A (n.1531G>A)
c.2654G>A (p.Ser885Asn)
c.2582G>A (p.Ser861Asn)
c.2528G>A (p.Ser843Asn)
c.2447G>A (p.Ser816Asn)
c.2390G>A (p.Ser797Asn)
c.476G>A (p.Ser159Asn)
n.2669G>A
c.-450G>A (n.-450G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.2114424T>ACA394387378PKD1c.2599A>T (p.Ser867Cys)
c.472+3065A>T
n.58A>T
c.1530A>T (n.1530A>T)
c.2653A>T (p.Ser885Cys)
c.2581A>T (p.Ser861Cys)
c.2527A>T (p.Ser843Cys)
c.2446A>T (p.Ser816Cys)
c.2389A>T (p.Ser797Cys)
c.475A>T (p.Ser159Cys)
n.2668A>T
c.-451A>T (n.-451A>T)
16g.2114424T>CCA7833158PKD1c.2599A>G (p.Ser867Gly)
c.472+3065A>G
n.58A>G
c.1530A>G (n.1530A>G)
c.2653A>G (p.Ser885Gly)
c.2581A>G (p.Ser861Gly)
c.2527A>G (p.Ser843Gly)
c.2446A>G (p.Ser816Gly)
c.2389A>G (p.Ser797Gly)
c.475A>G (p.Ser159Gly)
n.2668A>G
c.-451A>G (n.-451A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114424T>GCA394387379PKD1c.2599A>C (p.Ser867Arg)
c.472+3065A>C
n.58A>C
c.1530A>C (n.1530A>C)
c.2653A>C (p.Ser885Arg)
c.2581A>C (p.Ser861Arg)
c.2527A>C (p.Ser843Arg)
c.2446A>C (p.Ser816Arg)
c.2389A>C (p.Ser797Arg)
c.475A>C (p.Ser159Arg)
n.2668A>C
c.-451A>C (n.-451A>C)
16g.2114424T=CA2202049702PKD1c.2599A= (p.Ser867=)
c.472+3065A=
n.58A=
c.1530A= (n.1530A=)
c.2653A= (p.Ser885=)
c.2581A= (p.Ser861=)
c.2527A= (p.Ser843=)
c.2446A= (p.Ser816=)
c.2389A= (p.Ser797=)
c.475A= (p.Ser159=)
n.2668A=
c.-451A= (n.-451A=)
16g.2114425G>ACA493049504PKD1c.2598C>T (p.Val866=)
c.472+3064C>T
n.57C>T
c.1529C>T (n.1529C>T)
c.2652C>T (p.Val884=)
c.2580C>T (p.Val860=)
c.2526C>T (p.Val842=)
c.2445C>T (p.Val815=)
c.2388C>T (p.Val796=)
c.474C>T (p.Val158=)
n.2667C>T
c.-452C>T (n.-452C>T)
16g.2114425G>CCA493049507PKD1c.2598C>G (p.Val866=)
c.472+3064C>G
n.57C>G
c.1529C>G (n.1529C>G)
c.2652C>G (p.Val884=)
c.2580C>G (p.Val860=)
c.2526C>G (p.Val842=)
c.2445C>G (p.Val815=)
c.2388C>G (p.Val796=)
c.474C>G (p.Val158=)
n.2667C>G
c.-452C>G (n.-452C>G)
16g.2114425G>TCA493049510PKD1c.2598C>A (p.Val866=)
c.472+3064C>A
n.57C>A
c.1529C>A (n.1529C>A)
c.2652C>A (p.Val884=)
c.2580C>A (p.Val860=)
c.2526C>A (p.Val842=)
c.2445C>A (p.Val815=)
c.2388C>A (p.Val796=)
c.474C>A (p.Val158=)
n.2667C>A
c.-452C>A (n.-452C>A)
16g.2114426A>CCA394387380PKD1c.2597T>G (p.Val866Gly)
c.472+3063T>G
n.56T>G
c.1528T>G (n.1528T>G)
c.2651T>G (p.Val884Gly)
c.2579T>G (p.Val860Gly)
c.2525T>G (p.Val842Gly)
c.2444T>G (p.Val815Gly)
c.2387T>G (p.Val796Gly)
c.473T>G (p.Val158Gly)
n.2666T>G
c.-453T>G (n.-453T>G)
16g.2114426A>GCA394387381PKD1c.2597T>C (p.Val866Ala)
c.472+3063T>C
n.56T>C
c.1528T>C (n.1528T>C)
c.2651T>C (p.Val884Ala)
c.2579T>C (p.Val860Ala)
c.2525T>C (p.Val842Ala)
c.2444T>C (p.Val815Ala)
c.2387T>C (p.Val796Ala)
c.473T>C (p.Val158Ala)
n.2666T>C
c.-453T>C (n.-453T>C)
16g.2114426A>TCA394387383PKD1c.2597T>A (p.Val866Asp)
c.472+3063T>A
n.56T>A
c.1528T>A (n.1528T>A)
c.2651T>A (p.Val884Asp)
c.2579T>A (p.Val860Asp)
c.2525T>A (p.Val842Asp)
c.2444T>A (p.Val815Asp)
c.2387T>A (p.Val796Asp)
c.473T>A (p.Val158Asp)
n.2666T>A
c.-453T>A (n.-453T>A)
16g.2114427C>ACA394387385PKD1c.2596G>T (p.Val866Phe)
c.472+3062G>T
n.55G>T
c.1527G>T (n.1527G>T)
c.2650G>T (p.Val884Phe)
c.2578G>T (p.Val860Phe)
c.2524G>T (p.Val842Phe)
c.2443G>T (p.Val815Phe)
c.2386G>T (p.Val796Phe)
c.472G>T (p.Val158Phe)
n.2665G>T
c.-454G>T (n.-454G>T)
16g.2114427C=CA2202049703PKD1c.2596G= (p.Val866=)
c.472+3062G=
n.55G=
c.1527G= (n.1527G=)
c.2650G= (p.Val884=)
c.2578G= (p.Val860=)
c.2524G= (p.Val842=)
c.2443G= (p.Val815=)
c.2386G= (p.Val796=)
c.472G= (p.Val158=)
n.2665G=
c.-454G= (n.-454G=)
16g.2114427C>GCA276782791PKD1c.2596G>C (p.Val866Leu)
c.472+3062G>C
n.55G>C
c.1527G>C (n.1527G>C)
c.2650G>C (p.Val884Leu)
c.2578G>C (p.Val860Leu)
c.2524G>C (p.Val842Leu)
c.2443G>C (p.Val815Leu)
c.2386G>C (p.Val796Leu)
c.472G>C (p.Val158Leu)
n.2665G>C
c.-454G>C (n.-454G>C)
 dbSNP gnomAD v2
16g.2114427C>TCA276782792PKD1c.2596G>A (p.Val866Ile)
c.472+3062G>A
n.55G>A
c.1527G>A (n.1527G>A)
c.2650G>A (p.Val884Ile)
c.2578G>A (p.Val860Ile)
c.2524G>A (p.Val842Ile)
c.2443G>A (p.Val815Ile)
c.2386G>A (p.Val796Ile)
c.472G>A (p.Val158Ile)
n.2665G>A
c.-454G>A (n.-454G>A)
 dbSNP gnomAD v4
16g.2114428A=CA2202049704PKD1c.2595T= (p.Ser865=)
c.472+3061T=
n.54T=
c.1526T= (n.1526T=)
c.2649T= (p.Ser883=)
c.2577T= (p.Ser859=)
c.2523T= (p.Ser841=)
c.2442T= (p.Ser814=)
c.2385T= (p.Ser795=)
c.471T= (p.Ser157=)
n.2664T=
c.-455T= (n.-455T=)
16g.2114428A>CCA394387388PKD1c.2595T>G (p.Ser865Arg)
c.472+3061T>G
n.54T>G
c.1526T>G (n.1526T>G)
c.2649T>G (p.Ser883Arg)
c.2577T>G (p.Ser859Arg)
c.2523T>G (p.Ser841Arg)
c.2442T>G (p.Ser814Arg)
c.2385T>G (p.Ser795Arg)
c.471T>G (p.Ser157Arg)
n.2664T>G
c.-455T>G (n.-455T>G)
16g.2114428A>GCA493049517PKD1c.2595T>C (p.Ser865=)
c.472+3061T>C
n.54T>C
c.1526T>C (n.1526T>C)
c.2649T>C (p.Ser883=)
c.2577T>C (p.Ser859=)
c.2523T>C (p.Ser841=)
c.2442T>C (p.Ser814=)
c.2385T>C (p.Ser795=)
c.471T>C (p.Ser157=)
n.2664T>C
c.-455T>C (n.-455T>C)
 dbSNP gnomAD v3 gnomAD v4
16g.2114428A>TCA394387389PKD1c.2595T>A (p.Ser865Arg)
c.472+3061T>A
n.54T>A
c.1526T>A (n.1526T>A)
c.2649T>A (p.Ser883Arg)
c.2577T>A (p.Ser859Arg)
c.2523T>A (p.Ser841Arg)
c.2442T>A (p.Ser814Arg)
c.2385T>A (p.Ser795Arg)
c.471T>A (p.Ser157Arg)
n.2664T>A
c.-455T>A (n.-455T>A)
16g.2114429C>ACA394387391PKD1c.2594G>T (p.Ser865Ile)
c.472+3060G>T
n.53G>T
c.1525G>T (n.1525G>T)
c.2648G>T (p.Ser883Ile)
c.2576G>T (p.Ser859Ile)
c.2522G>T (p.Ser841Ile)
c.2441G>T (p.Ser814Ile)
c.2384G>T (p.Ser795Ile)
c.470G>T (p.Ser157Ile)
n.2663G>T
c.-456G>T (n.-456G>T)
 gnomAD v4
16g.2114429C>GCA394387392PKD1c.2594G>C (p.Ser865Thr)
c.472+3060G>C
n.53G>C
c.1525G>C (n.1525G>C)
c.2648G>C (p.Ser883Thr)
c.2576G>C (p.Ser859Thr)
c.2522G>C (p.Ser841Thr)
c.2441G>C (p.Ser814Thr)
c.2384G>C (p.Ser795Thr)
c.470G>C (p.Ser157Thr)
n.2663G>C
c.-456G>C (n.-456G>C)
16g.2114429C>TCA394387394PKD1c.2594G>A (p.Ser865Asn)
c.472+3060G>A
n.53G>A
c.1525G>A (n.1525G>A)
c.2648G>A (p.Ser883Asn)
c.2576G>A (p.Ser859Asn)
c.2522G>A (p.Ser841Asn)
c.2441G>A (p.Ser814Asn)
c.2384G>A (p.Ser795Asn)
c.470G>A (p.Ser157Asn)
n.2663G>A
c.-456G>A (n.-456G>A)
 gnomAD v4
16g.2114430T>ACA394387395PKD1c.2593A>T (p.Ser865Cys)
c.472+3059A>T
n.52A>T
c.1524A>T (n.1524A>T)
c.2647A>T (p.Ser883Cys)
c.2575A>T (p.Ser859Cys)
c.2521A>T (p.Ser841Cys)
c.2440A>T (p.Ser814Cys)
c.2383A>T (p.Ser795Cys)
c.469A>T (p.Ser157Cys)
n.2662A>T
c.-457A>T (n.-457A>T)
16g.2114430T>CCA394387398PKD1c.2593A>G (p.Ser865Gly)
c.472+3059A>G
n.52A>G
c.1524A>G (n.1524A>G)
c.2647A>G (p.Ser883Gly)
c.2575A>G (p.Ser859Gly)
c.2521A>G (p.Ser841Gly)
c.2440A>G (p.Ser814Gly)
c.2383A>G (p.Ser795Gly)
c.469A>G (p.Ser157Gly)
n.2662A>G
c.-457A>G (n.-457A>G)
 dbSNP gnomAD v2 gnomAD v4
16g.2114430T>GCA394387396PKD1c.2593A>C (p.Ser865Arg)
c.472+3059A>C
n.52A>C
c.1524A>C (n.1524A>C)
c.2647A>C (p.Ser883Arg)
c.2575A>C (p.Ser859Arg)
c.2521A>C (p.Ser841Arg)
c.2440A>C (p.Ser814Arg)
c.2383A>C (p.Ser795Arg)
c.469A>C (p.Ser157Arg)
n.2662A>C
c.-457A>C (n.-457A>C)
16g.2114430T=CA2202049705PKD1c.2593A= (p.Ser865=)
c.472+3059A=
n.52A=
c.1524A= (n.1524A=)
c.2647A= (p.Ser883=)
c.2575A= (p.Ser859=)
c.2521A= (p.Ser841=)
c.2440A= (p.Ser814=)
c.2383A= (p.Ser795=)
c.469A= (p.Ser157=)
n.2662A=
c.-457A= (n.-457A=)
16g.2114431G>ACA493049528PKD1c.2592C>T (p.Gly864=)
c.472+3058C>T
n.51C>T
c.1523C>T (n.1523C>T)
c.2646C>T (p.Gly882=)
c.2574C>T (p.Gly858=)
c.2520C>T (p.Gly840=)
c.2439C>T (p.Gly813=)
c.2382C>T (p.Gly794=)
c.468C>T (p.Gly156=)
n.2661C>T
c.-458C>T (n.-458C>T)
 gnomAD v4
16g.2114431G>CCA493049530PKD1c.2592C>G (p.Gly864=)
c.472+3058C>G
n.51C>G
c.1523C>G (n.1523C>G)
c.2646C>G (p.Gly882=)
c.2574C>G (p.Gly858=)
c.2520C>G (p.Gly840=)
c.2439C>G (p.Gly813=)
c.2382C>G (p.Gly794=)
c.468C>G (p.Gly156=)
n.2661C>G
c.-458C>G (n.-458C>G)
16g.2114431G>TCA493049531PKD1c.2592C>A (p.Gly864=)
c.472+3058C>A
n.51C>A
c.1523C>A (n.1523C>A)
c.2646C>A (p.Gly882=)
c.2574C>A (p.Gly858=)
c.2520C>A (p.Gly840=)
c.2439C>A (p.Gly813=)
c.2382C>A (p.Gly794=)
c.468C>A (p.Gly156=)
n.2661C>A
c.-458C>A (n.-458C>A)
16g.2114431dupCA2695222554PKD1c.2592dup (p.Ser865GlnfsTer7)
c.472+3058dup
n.51dup
c.1523dup (n.1523dup)
c.2646dup (p.Ser883GlnfsTer7)
c.2574dup (p.Ser859GlnfsTer7)
c.2520dup (p.Ser841GlnfsTer7)
c.2439dup (p.Ser814GlnfsTer7)
c.2382dup (p.Ser795GlnfsTer7)
c.468dup (p.Ser157GlnfsTer7)
n.2661dup
c.-458dup (n.-458dup)
16g.2114432C>ACA394387400PKD1c.2591G>T (p.Gly864Val)
c.472+3057G>T
n.50G>T
c.1522G>T (n.1522G>T)
c.2645G>T (p.Gly882Val)
c.2573G>T (p.Gly858Val)
c.2519G>T (p.Gly840Val)
c.2438G>T (p.Gly813Val)
c.2381G>T (p.Gly794Val)
c.467G>T (p.Gly156Val)
n.2660G>T
c.-459G>T (n.-459G>T)
 gnomAD v4
16g.2114432C=CA2202049706PKD1c.2591G= (p.Gly864=)
c.472+3057G=
n.50G=
c.1522G= (n.1522G=)
c.2645G= (p.Gly882=)
c.2573G= (p.Gly858=)
c.2519G= (p.Gly840=)
c.2438G= (p.Gly813=)
c.2381G= (p.Gly794=)
c.467G= (p.Gly156=)
n.2660G=
c.-459G= (n.-459G=)
16g.2114432C>GCA394387401PKD1c.2591G>C (p.Gly864Ala)
c.472+3057G>C
n.50G>C
c.1522G>C (n.1522G>C)
c.2645G>C (p.Gly882Ala)
c.2573G>C (p.Gly858Ala)
c.2519G>C (p.Gly840Ala)
c.2438G>C (p.Gly813Ala)
c.2381G>C (p.Gly794Ala)
c.467G>C (p.Gly156Ala)
n.2660G>C
c.-459G>C (n.-459G>C)
16g.2114432C>TCA7833159PKD1c.2591G>A (p.Gly864Asp)
c.472+3057G>A
n.50G>A
c.1522G>A (n.1522G>A)
c.2645G>A (p.Gly882Asp)
c.2573G>A (p.Gly858Asp)
c.2519G>A (p.Gly840Asp)
c.2438G>A (p.Gly813Asp)
c.2381G>A (p.Gly794Asp)
c.467G>A (p.Gly156Asp)
n.2660G>A
c.-459G>A (n.-459G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114436delCA2631141995PKD1c.2591del (p.Gly864AlafsTer?)
c.472+3057del
n.50del
c.1522del (n.1522del)
c.2645del (p.Gly882AlafsTer?)
c.2573del (p.Gly858AlafsTer?)
c.2519del (p.Gly840AlafsTer?)
c.2438del (p.Gly813AlafsTer?)
c.2381del (p.Gly794AlafsTer?)
c.467del (p.Gly156AlafsTer?)
n.2660del
c.-459del (n.-459del)
 gnomAD v4
16g.2114433C>ACA394387404PKD1c.2590G>T (p.Gly864Cys)
c.472+3056G>T
n.49G>T
c.1521G>T (n.1521G>T)
c.2644G>T (p.Gly882Cys)
c.2572G>T (p.Gly858Cys)
c.2518G>T (p.Gly840Cys)
c.2437G>T (p.Gly813Cys)
c.2380G>T (p.Gly794Cys)
c.466G>T (p.Gly156Cys)
n.2659G>T
c.-460G>T (n.-460G>T)
16g.2114433C>GCA394387405PKD1c.2590G>C (p.Gly864Arg)
c.472+3056G>C
n.49G>C
c.1521G>C (n.1521G>C)
c.2644G>C (p.Gly882Arg)
c.2572G>C (p.Gly858Arg)
c.2518G>C (p.Gly840Arg)
c.2437G>C (p.Gly813Arg)
c.2380G>C (p.Gly794Arg)
c.466G>C (p.Gly156Arg)
n.2659G>C
c.-460G>C (n.-460G>C)
16g.2114433C>TCA394387407PKD1c.2590G>A (p.Gly864Ser)
c.472+3056G>A
n.49G>A
c.1521G>A (n.1521G>A)
c.2644G>A (p.Gly882Ser)
c.2572G>A (p.Gly858Ser)
c.2518G>A (p.Gly840Ser)
c.2437G>A (p.Gly813Ser)
c.2380G>A (p.Gly794Ser)
c.466G>A (p.Gly156Ser)
n.2659G>A
c.-460G>A (n.-460G>A)
 gnomAD v4
16g.2114434C>ACA493049540PKD1c.2589G>T (p.Gly863=)
c.472+3055G>T
n.48G>T
c.1520G>T (n.1520G>T)
c.2643G>T (p.Gly881=)
c.2571G>T (p.Gly857=)
c.2517G>T (p.Gly839=)
c.2436G>T (p.Gly812=)
c.2379G>T (p.Gly793=)
c.465G>T (p.Gly155=)
n.2658G>T
c.-461G>T (n.-461G>T)
 gnomAD v4
16g.2114434C=CA2202049707PKD1c.2589G= (p.Gly863=)
c.472+3055G=
n.48G=
c.1520G= (n.1520G=)
c.2643G= (p.Gly881=)
c.2571G= (p.Gly857=)
c.2517G= (p.Gly839=)
c.2436G= (p.Gly812=)
c.2379G= (p.Gly793=)
c.465G= (p.Gly155=)
n.2658G=
c.-461G= (n.-461G=)
16g.2114434C>GCA7833160PKD1c.2589G>C (p.Gly863=)
c.472+3055G>C
n.48G>C
c.1520G>C (n.1520G>C)
c.2643G>C (p.Gly881=)
c.2571G>C (p.Gly857=)
c.2517G>C (p.Gly839=)
c.2436G>C (p.Gly812=)
c.2379G>C (p.Gly793=)
c.465G>C (p.Gly155=)
n.2658G>C
c.-461G>C (n.-461G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114434C>TCA276782793PKD1c.2589G>A (p.Gly863=)
c.472+3055G>A
n.48G>A
c.1520G>A (n.1520G>A)
c.2643G>A (p.Gly881=)
c.2571G>A (p.Gly857=)
c.2517G>A (p.Gly839=)
c.2436G>A (p.Gly812=)
c.2379G>A (p.Gly793=)
c.465G>A (p.Gly155=)
n.2658G>A
c.-461G>A (n.-461G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.2114435C>ACA394387410PKD1c.2588G>T (p.Gly863Val)
c.472+3054G>T
n.47G>T
c.1519G>T (n.1519G>T)
c.2642G>T (p.Gly881Val)
c.2570G>T (p.Gly857Val)
c.2516G>T (p.Gly839Val)
c.2435G>T (p.Gly812Val)
c.2378G>T (p.Gly793Val)
c.464G>T (p.Gly155Val)
n.2657G>T
c.-462G>T (n.-462G>T)
16g.2114435C>GCA394387412PKD1c.2588G>C (p.Gly863Ala)
c.472+3054G>C
n.47G>C
c.1519G>C (n.1519G>C)
c.2642G>C (p.Gly881Ala)
c.2570G>C (p.Gly857Ala)
c.2516G>C (p.Gly839Ala)
c.2435G>C (p.Gly812Ala)
c.2378G>C (p.Gly793Ala)
c.464G>C (p.Gly155Ala)
n.2657G>C
c.-462G>C (n.-462G>C)
16g.2114435C>TCA394387413PKD1c.2588G>A (p.Gly863Glu)
c.472+3054G>A
n.47G>A
c.1519G>A (n.1519G>A)
c.2642G>A (p.Gly881Glu)
c.2570G>A (p.Gly857Glu)
c.2516G>A (p.Gly839Glu)
c.2435G>A (p.Gly812Glu)
c.2378G>A (p.Gly793Glu)
c.464G>A (p.Gly155Glu)
n.2657G>A
c.-462G>A (n.-462G>A)
16g.2114436C>ACA394387418PKD1c.2587G>T (p.Gly863Trp)
c.472+3053G>T
n.46G>T
c.1518G>T (n.1518G>T)
c.2641G>T (p.Gly881Trp)
c.2569G>T (p.Gly857Trp)
c.2515G>T (p.Gly839Trp)
c.2434G>T (p.Gly812Trp)
c.2377G>T (p.Gly793Trp)
c.463G>T (p.Gly155Trp)
n.2656G>T
c.-463G>T (n.-463G>T)
16g.2114436C=CA2202049708PKD1c.2587G= (p.Gly863=)
c.472+3053G=
n.46G=
c.1518G= (n.1518G=)
c.2641G= (p.Gly881=)
c.2569G= (p.Gly857=)
c.2515G= (p.Gly839=)
c.2434G= (p.Gly812=)
c.2377G= (p.Gly793=)
c.463G= (p.Gly155=)
n.2656G=
c.-463G= (n.-463G=)
16g.2114436C>GCA394387417PKD1c.2587G>C (p.Gly863Arg)
c.472+3053G>C
n.46G>C
c.1518G>C (n.1518G>C)
c.2641G>C (p.Gly881Arg)
c.2569G>C (p.Gly857Arg)
c.2515G>C (p.Gly839Arg)
c.2434G>C (p.Gly812Arg)
c.2377G>C (p.Gly793Arg)
c.463G>C (p.Gly155Arg)
n.2656G>C
c.-463G>C (n.-463G>C)
16g.2114436C>TCA394387415PKD1c.2587G>A (p.Gly863Arg)
c.472+3053G>A
n.46G>A
c.1518G>A (n.1518G>A)
c.2641G>A (p.Gly881Arg)
c.2569G>A (p.Gly857Arg)
c.2515G>A (p.Gly839Arg)
c.2434G>A (p.Gly812Arg)
c.2377G>A (p.Gly793Arg)
c.463G>A (p.Gly155Arg)
n.2656G>A
c.-463G>A (n.-463G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.2114437A>CCA493049548PKD1c.2586T>G (p.Pro862=)
c.472+3052T>G
n.45T>G
c.1517T>G (n.1517T>G)
c.2640T>G (p.Pro880=)
c.2568T>G (p.Pro856=)
c.2514T>G (p.Pro838=)
c.2433T>G (p.Pro811=)
c.2376T>G (p.Pro792=)
c.462T>G (p.Pro154=)
n.2655T>G
c.-464T>G (n.-464T>G)
16g.2114437A>GCA493049549PKD1c.2586T>C (p.Pro862=)
c.472+3052T>C
n.45T>C
c.1517T>C (n.1517T>C)
c.2640T>C (p.Pro880=)
c.2568T>C (p.Pro856=)
c.2514T>C (p.Pro838=)
c.2433T>C (p.Pro811=)
c.2376T>C (p.Pro792=)
c.462T>C (p.Pro154=)
n.2655T>C
c.-464T>C (n.-464T>C)
 gnomAD v4
16g.2114437A>TCA493049550PKD1c.2586T>A (p.Pro862=)
c.472+3052T>A
n.45T>A
c.1517T>A (n.1517T>A)
c.2640T>A (p.Pro880=)
c.2568T>A (p.Pro856=)
c.2514T>A (p.Pro838=)
c.2433T>A (p.Pro811=)
c.2376T>A (p.Pro792=)
c.462T>A (p.Pro154=)
n.2655T>A
c.-464T>A (n.-464T>A)
16g.2114438G>ACA394387420PKD1c.2585C>T (p.Pro862Leu)
c.472+3051C>T
n.44C>T
c.1516C>T (n.1516C>T)
c.2639C>T (p.Pro880Leu)
c.2567C>T (p.Pro856Leu)
c.2513C>T (p.Pro838Leu)
c.2432C>T (p.Pro811Leu)
c.2375C>T (p.Pro792Leu)
c.461C>T (p.Pro154Leu)
n.2654C>T
c.-465C>T (n.-465C>T)
 gnomAD v4
16g.2114438G>CCA7833161PKD1c.2585C>G (p.Pro862Arg)
c.472+3051C>G
n.44C>G
c.1516C>G (n.1516C>G)
c.2639C>G (p.Pro880Arg)
c.2567C>G (p.Pro856Arg)
c.2513C>G (p.Pro838Arg)
c.2432C>G (p.Pro811Arg)
c.2375C>G (p.Pro792Arg)
c.461C>G (p.Pro154Arg)
n.2654C>G
c.-465C>G (n.-465C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114438G=CA2202049709PKD1c.2585C= (p.Pro862=)
c.472+3051C=
n.44C=
c.1516C= (n.1516C=)
c.2639C= (p.Pro880=)
c.2567C= (p.Pro856=)
c.2513C= (p.Pro838=)
c.2432C= (p.Pro811=)
c.2375C= (p.Pro792=)
c.461C= (p.Pro154=)
n.2654C=
c.-465C= (n.-465C=)
16g.2114438G>TCA394387422PKD1c.2585C>A (p.Pro862His)
c.472+3051C>A
n.44C>A
c.1516C>A (n.1516C>A)
c.2639C>A (p.Pro880His)
c.2567C>A (p.Pro856His)
c.2513C>A (p.Pro838His)
c.2432C>A (p.Pro811His)
c.2375C>A (p.Pro792His)
c.461C>A (p.Pro154His)
n.2654C>A
c.-465C>A (n.-465C>A)
 gnomAD v4
16g.2114439G>ACA394387424PKD1c.2584C>T (p.Pro862Ser)
c.472+3050C>T
n.43C>T
c.1515C>T (n.1515C>T)
c.2638C>T (p.Pro880Ser)
c.2566C>T (p.Pro856Ser)
c.2512C>T (p.Pro838Ser)
c.2431C>T (p.Pro811Ser)
c.2374C>T (p.Pro792Ser)
c.460C>T (p.Pro154Ser)
n.2653C>T
c.-466C>T (n.-466C>T)
 gnomAD v4
16g.2114439G>CCA394387426PKD1c.2584C>G (p.Pro862Ala)
c.472+3050C>G
n.43C>G
c.1515C>G (n.1515C>G)
c.2638C>G (p.Pro880Ala)
c.2566C>G (p.Pro856Ala)
c.2512C>G (p.Pro838Ala)
c.2431C>G (p.Pro811Ala)
c.2374C>G (p.Pro792Ala)
c.460C>G (p.Pro154Ala)
n.2653C>G
c.-466C>G (n.-466C>G)
16g.2114439G>TCA394387427PKD1c.2584C>A (p.Pro862Thr)
c.472+3050C>A
n.43C>A
c.1515C>A (n.1515C>A)
c.2638C>A (p.Pro880Thr)
c.2566C>A (p.Pro856Thr)
c.2512C>A (p.Pro838Thr)
c.2431C>A (p.Pro811Thr)
c.2374C>A (p.Pro792Thr)
c.460C>A (p.Pro154Thr)
n.2653C>A
c.-466C>A (n.-466C>A)
 gnomAD v4
16g.2114440C>ACA394387428PKD1c.2583G>T (p.Trp861Cys)
c.472+3049G>T
n.42G>T
c.1514G>T (n.1514G>T)
c.2637G>T (p.Trp879Cys)
c.2565G>T (p.Trp855Cys)
c.2511G>T (p.Trp837Cys)
c.2430G>T (p.Trp810Cys)
c.2373G>T (p.Trp791Cys)
c.459G>T (p.Trp153Cys)
n.2652G>T
c.-467G>T (n.-467G>T)
16g.2114440C>GCA394387429PKD1c.2583G>C (p.Trp861Cys)
c.472+3049G>C
n.42G>C
c.1514G>C (n.1514G>C)
c.2637G>C (p.Trp879Cys)
c.2565G>C (p.Trp855Cys)
c.2511G>C (p.Trp837Cys)
c.2430G>C (p.Trp810Cys)
c.2373G>C (p.Trp791Cys)
c.459G>C (p.Trp153Cys)
n.2652G>C
c.-467G>C (n.-467G>C)
16g.2114440C>TCA394387431PKD1c.2583G>A (p.Trp861Ter)
c.472+3049G>A
n.42G>A
c.1514G>A (n.1514G>A)
c.2637G>A (p.Trp879Ter)
c.2565G>A (p.Trp855Ter)
c.2511G>A (p.Trp837Ter)
c.2430G>A (p.Trp810Ter)
c.2373G>A (p.Trp791Ter)
c.459G>A (p.Trp153Ter)
n.2652G>A
c.-467G>A (n.-467G>A)
 gnomAD v4
16g.2114441C>ACA394387433PKD1c.2582G>T (p.Trp861Leu)
c.472+3048G>T
n.41G>T
c.1513G>T (n.1513G>T)
c.2636G>T (p.Trp879Leu)
c.2564G>T (p.Trp855Leu)
c.2510G>T (p.Trp837Leu)
c.2429G>T (p.Trp810Leu)
c.2372G>T (p.Trp791Leu)
c.458G>T (p.Trp153Leu)
n.2651G>T
c.-468G>T (n.-468G>T)
16g.2114441C>GCA394387435PKD1c.2582G>C (p.Trp861Ser)
c.472+3048G>C
n.41G>C
c.1513G>C (n.1513G>C)
c.2636G>C (p.Trp879Ser)
c.2564G>C (p.Trp855Ser)
c.2510G>C (p.Trp837Ser)
c.2429G>C (p.Trp810Ser)
c.2372G>C (p.Trp791Ser)
c.458G>C (p.Trp153Ser)
n.2651G>C
c.-468G>C (n.-468G>C)
16g.2114441C>TCA394387436PKD1c.2582G>A (p.Trp861Ter)
c.472+3048G>A
n.41G>A
c.1513G>A (n.1513G>A)
c.2636G>A (p.Trp879Ter)
c.2564G>A (p.Trp855Ter)
c.2510G>A (p.Trp837Ter)
c.2429G>A (p.Trp810Ter)
c.2372G>A (p.Trp791Ter)
c.458G>A (p.Trp153Ter)
n.2651G>A
c.-468G>A (n.-468G>A)
16g.2114442A>CCA394387441PKD1c.2581T>G (p.Trp861Gly)
c.472+3047T>G
n.40T>G
c.1512T>G (n.1512T>G)
c.2635T>G (p.Trp879Gly)
c.2563T>G (p.Trp855Gly)
c.2509T>G (p.Trp837Gly)
c.2428T>G (p.Trp810Gly)
c.2371T>G (p.Trp791Gly)
c.457T>G (p.Trp153Gly)
n.2650T>G
c.-469T>G (n.-469T>G)
16g.2114442A>GCA394387439PKD1c.2581T>C (p.Trp861Arg)
c.472+3047T>C
n.40T>C
c.1512T>C (n.1512T>C)
c.2635T>C (p.Trp879Arg)
c.2563T>C (p.Trp855Arg)
c.2509T>C (p.Trp837Arg)
c.2428T>C (p.Trp810Arg)
c.2371T>C (p.Trp791Arg)
c.457T>C (p.Trp153Arg)
n.2650T>C
c.-469T>C (n.-469T>C)
 gnomAD v4
16g.2114442A>TCA394387438PKD1c.2581T>A (p.Trp861Arg)
c.472+3047T>A
n.40T>A
c.1512T>A (n.1512T>A)
c.2635T>A (p.Trp879Arg)
c.2563T>A (p.Trp855Arg)
c.2509T>A (p.Trp837Arg)
c.2428T>A (p.Trp810Arg)
c.2371T>A (p.Trp791Arg)
c.457T>A (p.Trp153Arg)
n.2650T>A
c.-469T>A (n.-469T>A)
 ClinVar
16g.2114443G>ACA493049572PKD1c.2580C>T (p.Arg860=)
c.472+3046C>T
n.39C>T
c.1511C>T (n.1511C>T)
c.2634C>T (p.Arg878=)
c.2562C>T (p.Arg854=)
c.2508C>T (p.Arg836=)
c.2427C>T (p.Arg809=)
c.2370C>T (p.Arg790=)
c.456C>T (p.Arg152=)
n.2649C>T
c.-470C>T (n.-470C>T)
 gnomAD v4
16g.2114443G>CCA493049570PKD1c.2580C>G (p.Arg860=)
c.472+3046C>G
n.39C>G
c.1511C>G (n.1511C>G)
c.2634C>G (p.Arg878=)
c.2562C>G (p.Arg854=)
c.2508C>G (p.Arg836=)
c.2427C>G (p.Arg809=)
c.2370C>G (p.Arg790=)
c.456C>G (p.Arg152=)
n.2649C>G
c.-470C>G (n.-470C>G)
16g.2114443G>TCA493049569PKD1c.2580C>A (p.Arg860=)
c.472+3046C>A
n.39C>A
c.1511C>A (n.1511C>A)
c.2634C>A (p.Arg878=)
c.2562C>A (p.Arg854=)
c.2508C>A (p.Arg836=)
c.2427C>A (p.Arg809=)
c.2370C>A (p.Arg790=)
c.456C>A (p.Arg152=)
n.2649C>A
c.-470C>A (n.-470C>A)
16g.2114444C>ACA394387442PKD1c.2579G>T (p.Arg860Leu)
c.472+3045G>T
n.38G>T
c.1510G>T (n.1510G>T)
c.2633G>T (p.Arg878Leu)
c.2561G>T (p.Arg854Leu)
c.2507G>T (p.Arg836Leu)
c.2426G>T (p.Arg809Leu)
c.2369G>T (p.Arg790Leu)
c.455G>T (p.Arg152Leu)
n.2648G>T
c.-471G>T (n.-471G>T)
 gnomAD v4
16g.2114444C=CA2202049710PKD1c.2579G= (p.Arg860=)
c.472+3045G=
n.38G=
c.1510G= (n.1510G=)
c.2633G= (p.Arg878=)
c.2561G= (p.Arg854=)
c.2507G= (p.Arg836=)
c.2426G= (p.Arg809=)
c.2369G= (p.Arg790=)
c.455G= (p.Arg152=)
n.2648G=
c.-471G= (n.-471G=)
16g.2114444C>GCA7833162PKD1c.2579G>C (p.Arg860Pro)
c.472+3045G>C
n.38G>C
c.1510G>C (n.1510G>C)
c.2633G>C (p.Arg878Pro)
c.2561G>C (p.Arg854Pro)
c.2507G>C (p.Arg836Pro)
c.2426G>C (p.Arg809Pro)
c.2369G>C (p.Arg790Pro)
c.455G>C (p.Arg152Pro)
n.2648G>C
c.-471G>C (n.-471G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114444C>TCA7833163PKD1c.2579G>A (p.Arg860His)
c.472+3045G>A
n.38G>A
c.1510G>A (n.1510G>A)
c.2633G>A (p.Arg878His)
c.2561G>A (p.Arg854His)
c.2507G>A (p.Arg836His)
c.2426G>A (p.Arg809His)
c.2369G>A (p.Arg790His)
c.455G>A (p.Arg152His)
n.2648G>A
c.-471G>A (n.-471G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114445G>ACA7833164PKD1c.2578C>T (p.Arg860Cys)
c.472+3044C>T
n.37C>T
c.1509C>T (n.1509C>T)
c.2632C>T (p.Arg878Cys)
c.2560C>T (p.Arg854Cys)
c.2506C>T (p.Arg836Cys)
c.2425C>T (p.Arg809Cys)
c.2368C>T (p.Arg790Cys)
c.454C>T (p.Arg152Cys)
n.2647C>T
c.-472C>T (n.-472C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114445G>CCA394387446PKD1c.2578C>G (p.Arg860Gly)
c.472+3044C>G
n.37C>G
c.1509C>G (n.1509C>G)
c.2632C>G (p.Arg878Gly)
c.2560C>G (p.Arg854Gly)
c.2506C>G (p.Arg836Gly)
c.2425C>G (p.Arg809Gly)
c.2368C>G (p.Arg790Gly)
c.454C>G (p.Arg152Gly)
n.2647C>G
c.-472C>G (n.-472C>G)
16g.2114445G=CA2202049711PKD1c.2578C= (p.Arg860=)
c.472+3044C=
n.37C=
c.1509C= (n.1509C=)
c.2632C= (p.Arg878=)
c.2560C= (p.Arg854=)
c.2506C= (p.Arg836=)
c.2425C= (p.Arg809=)
c.2368C= (p.Arg790=)
c.454C= (p.Arg152=)
n.2647C=
c.-472C= (n.-472C=)
16g.2114445G>TCA394387447PKD1c.2578C>A (p.Arg860Ser)
c.472+3044C>A
n.37C>A
c.1509C>A (n.1509C>A)
c.2632C>A (p.Arg878Ser)
c.2560C>A (p.Arg854Ser)
c.2506C>A (p.Arg836Ser)
c.2425C>A (p.Arg809Ser)
c.2368C>A (p.Arg790Ser)
c.454C>A (p.Arg152Ser)
n.2647C>A
c.-472C>A (n.-472C>A)
16g.2114446A=CA2202049712PKD1c.2577T= (p.Ala859=)
c.472+3043T=
n.36T=
c.1508T= (n.1508T=)
c.2631T= (p.Ala877=)
c.2559T= (p.Ala853=)
c.2505T= (p.Ala835=)
c.2424T= (p.Ala808=)
c.2367T= (p.Ala789=)
c.453T= (p.Ala151=)
n.2646T=
c.-473T= (n.-473T=)
16g.2114446A>CCA493049581PKD1c.2577T>G (p.Ala859=)
c.472+3043T>G
n.36T>G
c.1508T>G (n.1508T>G)
c.2631T>G (p.Ala877=)
c.2559T>G (p.Ala853=)
c.2505T>G (p.Ala835=)
c.2424T>G (p.Ala808=)
c.2367T>G (p.Ala789=)
c.453T>G (p.Ala151=)
n.2646T>G
c.-473T>G (n.-473T>G)
16g.2114446A>GCA493049579PKD1c.2577T>C (p.Ala859=)
c.472+3043T>C
n.36T>C
c.1508T>C (n.1508T>C)
c.2631T>C (p.Ala877=)
c.2559T>C (p.Ala853=)
c.2505T>C (p.Ala835=)
c.2424T>C (p.Ala808=)
c.2367T>C (p.Ala789=)
c.453T>C (p.Ala151=)
n.2646T>C
c.-473T>C (n.-473T>C)
16g.2114446A>TCA493049577PKD1c.2577T>A (p.Ala859=)
c.472+3043T>A
n.36T>A
c.1508T>A (n.1508T>A)
c.2631T>A (p.Ala877=)
c.2559T>A (p.Ala853=)
c.2505T>A (p.Ala835=)
c.2424T>A (p.Ala808=)
c.2367T>A (p.Ala789=)
c.453T>A (p.Ala151=)
n.2646T>A
c.-473T>A (n.-473T>A)
 dbSNP gnomAD v2
16g.2114447G>ACA394387449PKD1c.2576C>T (p.Ala859Val)
c.472+3042C>T
n.35C>T
c.1507C>T (n.1507C>T)
c.2630C>T (p.Ala877Val)
c.2558C>T (p.Ala853Val)
c.2504C>T (p.Ala835Val)
c.2423C>T (p.Ala808Val)
c.2366C>T (p.Ala789Val)
c.452C>T (p.Ala151Val)
n.2645C>T
c.-474C>T (n.-474C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2114447G>CCA394387450PKD1c.2576C>G (p.Ala859Gly)
c.472+3042C>G
n.35C>G
c.1507C>G (n.1507C>G)
c.2630C>G (p.Ala877Gly)
c.2558C>G (p.Ala853Gly)
c.2504C>G (p.Ala835Gly)
c.2423C>G (p.Ala808Gly)
c.2366C>G (p.Ala789Gly)
c.452C>G (p.Ala151Gly)
n.2645C>G
c.-474C>G (n.-474C>G)
16g.2114447G=CA2202049713PKD1c.2576C= (p.Ala859=)
c.472+3042C=
n.35C=
c.1507C= (n.1507C=)
c.2630C= (p.Ala877=)
c.2558C= (p.Ala853=)
c.2504C= (p.Ala835=)
c.2423C= (p.Ala808=)
c.2366C= (p.Ala789=)
c.452C= (p.Ala151=)
n.2645C=
c.-474C= (n.-474C=)
16g.2114447G>TCA394387452PKD1c.2576C>A (p.Ala859Asp)
c.472+3042C>A
n.35C>A
c.1507C>A (n.1507C>A)
c.2630C>A (p.Ala877Asp)
c.2558C>A (p.Ala853Asp)
c.2504C>A (p.Ala835Asp)
c.2423C>A (p.Ala808Asp)
c.2366C>A (p.Ala789Asp)
c.452C>A (p.Ala151Asp)
n.2645C>A
c.-474C>A (n.-474C>A)
 gnomAD v4
16g.2114455_2114460dupCA718975773PKD1c.2571_2576dup (p.Ala859_Arg860insThrAla)
c.472+3037_472+3042dup
n.30_35dup
c.1502_1507dup (n.1502_1507dup)
c.2625_2630dup (p.Ala877_Arg878insThrAla)
c.2553_2558dup (p.Ala853_Arg854insThrAla)
c.2499_2504dup (p.Ala835_Arg836insThrAla)
c.2418_2423dup (p.Ala808_Arg809insThrAla)
c.2361_2366dup (p.Ala789_Arg790insThrAla)
c.447_452dup (p.Ala151_Arg152insThrAla)
n.2640_2645dup
c.-479_-474dup (n.-479_-474dup)
 dbSNP
16g.2114455_2114460delCA2575879039PKD1c.2571_2576del (p.Thr858_Ala859del)
c.472+3037_472+3042del
n.30_35del
c.1502_1507del (n.1502_1507del)
c.2625_2630del (p.Thr876_Ala877del)
c.2553_2558del (p.Thr852_Ala853del)
c.2499_2504del (p.Thr834_Ala835del)
c.2418_2423del (p.Thr807_Ala808del)
c.2361_2366del (p.Thr788_Ala789del)
c.447_452del (p.Thr150_Ala151del)
n.2640_2645del
c.-479_-474del (n.-479_-474del)
 gnomAD v4
16g.2114448C>ACA394387454PKD1c.2575G>T (p.Ala859Ser)
c.472+3041G>T
n.34G>T
c.1506G>T (n.1506G>T)
c.2629G>T (p.Ala877Ser)
c.2557G>T (p.Ala853Ser)
c.2503G>T (p.Ala835Ser)
c.2422G>T (p.Ala808Ser)
c.2365G>T (p.Ala789Ser)
c.451G>T (p.Ala151Ser)
n.2644G>T
c.-475G>T (n.-475G>T)
16g.2114448C=CA2202049714PKD1c.2575G= (p.Ala859=)
c.472+3041G=
n.34G=
c.1506G= (n.1506G=)
c.2629G= (p.Ala877=)
c.2557G= (p.Ala853=)
c.2503G= (p.Ala835=)
c.2422G= (p.Ala808=)
c.2365G= (p.Ala789=)
c.451G= (p.Ala151=)
n.2644G=
c.-475G= (n.-475G=)
16g.2114448C>GCA394387455PKD1c.2575G>C (p.Ala859Pro)
c.472+3041G>C
n.34G>C
c.1506G>C (n.1506G>C)
c.2629G>C (p.Ala877Pro)
c.2557G>C (p.Ala853Pro)
c.2503G>C (p.Ala835Pro)
c.2422G>C (p.Ala808Pro)
c.2365G>C (p.Ala789Pro)
c.451G>C (p.Ala151Pro)
n.2644G>C
c.-475G>C (n.-475G>C)
16g.2114448C>TCA394387456PKD1c.2575G>A (p.Ala859Thr)
c.472+3041G>A
n.34G>A
c.1506G>A (n.1506G>A)
c.2629G>A (p.Ala877Thr)
c.2557G>A (p.Ala853Thr)
c.2503G>A (p.Ala835Thr)
c.2422G>A (p.Ala808Thr)
c.2365G>A (p.Ala789Thr)
c.451G>A (p.Ala151Thr)
n.2644G>A
c.-475G>A (n.-475G>A)
 dbSNP gnomAD v2
16g.2114449C>ACA493049590PKD1c.2574G>T (p.Thr858=)
c.472+3040G>T
n.33G>T
c.1505G>T (n.1505G>T)
c.2628G>T (p.Thr876=)
c.2556G>T (p.Thr852=)
c.2502G>T (p.Thr834=)
c.2421G>T (p.Thr807=)
c.2364G>T (p.Thr788=)
c.450G>T (p.Thr150=)
n.2643G>T
c.-476G>T (n.-476G>T)
 ClinVar gnomAD v4
16g.2114449C=CA2202049715PKD1c.2574G= (p.Thr858=)
c.472+3040G=
n.33G=
c.1505G= (n.1505G=)
c.2628G= (p.Thr876=)
c.2556G= (p.Thr852=)
c.2502G= (p.Thr834=)
c.2421G= (p.Thr807=)
c.2364G= (p.Thr788=)
c.450G= (p.Thr150=)
n.2643G=
c.-476G= (n.-476G=)
16g.2114449C>GCA493049594PKD1c.2574G>C (p.Thr858=)
c.472+3040G>C
n.33G>C
c.1505G>C (n.1505G>C)
c.2628G>C (p.Thr876=)
c.2556G>C (p.Thr852=)
c.2502G>C (p.Thr834=)
c.2421G>C (p.Thr807=)
c.2364G>C (p.Thr788=)
c.450G>C (p.Thr150=)
n.2643G>C
c.-476G>C (n.-476G>C)
16g.2114449C>TCA7833165PKD1c.2574G>A (p.Thr858=)
c.472+3040G>A
n.33G>A
c.1505G>A (n.1505G>A)
c.2628G>A (p.Thr876=)
c.2556G>A (p.Thr852=)
c.2502G>A (p.Thr834=)
c.2421G>A (p.Thr807=)
c.2364G>A (p.Thr788=)
c.450G>A (p.Thr150=)
n.2643G>A
c.-476G>A (n.-476G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114450G>ACA7833166PKD1c.2573C>T (p.Thr858Met)
c.472+3039C>T
n.32C>T
c.1504C>T (n.1504C>T)
c.2627C>T (p.Thr876Met)
c.2555C>T (p.Thr852Met)
c.2501C>T (p.Thr834Met)
c.2420C>T (p.Thr807Met)
c.2363C>T (p.Thr788Met)
c.449C>T (p.Thr150Met)
n.2642C>T
c.-477C>T (n.-477C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114450G>CCA394387458PKD1c.2573C>G (p.Thr858Arg)
c.472+3039C>G
n.32C>G
c.1504C>G (n.1504C>G)
c.2627C>G (p.Thr876Arg)
c.2555C>G (p.Thr852Arg)
c.2501C>G (p.Thr834Arg)
c.2420C>G (p.Thr807Arg)
c.2363C>G (p.Thr788Arg)
c.449C>G (p.Thr150Arg)
n.2642C>G
c.-477C>G (n.-477C>G)
16g.2114450G=CA2202049716PKD1c.2573C= (p.Thr858=)
c.472+3039C=
n.32C=
c.1504C= (n.1504C=)
c.2627C= (p.Thr876=)
c.2555C= (p.Thr852=)
c.2501C= (p.Thr834=)
c.2420C= (p.Thr807=)
c.2363C= (p.Thr788=)
c.449C= (p.Thr150=)
n.2642C=
c.-477C= (n.-477C=)
16g.2114450G>TCA394387460PKD1c.2573C>A (p.Thr858Lys)
c.472+3039C>A
n.32C>A
c.1504C>A (n.1504C>A)
c.2627C>A (p.Thr876Lys)
c.2555C>A (p.Thr852Lys)
c.2501C>A (p.Thr834Lys)
c.2420C>A (p.Thr807Lys)
c.2363C>A (p.Thr788Lys)
c.449C>A (p.Thr150Lys)
n.2642C>A
c.-477C>A (n.-477C>A)
 gnomAD v4
16g.2114451T>ACA394387462PKD1c.2572A>T (p.Thr858Ser)
c.472+3038A>T
n.31A>T
c.1503A>T (n.1503A>T)
c.2626A>T (p.Thr876Ser)
c.2554A>T (p.Thr852Ser)
c.2500A>T (p.Thr834Ser)
c.2419A>T (p.Thr807Ser)
c.2362A>T (p.Thr788Ser)
c.448A>T (p.Thr150Ser)
n.2641A>T
c.-478A>T (n.-478A>T)
16g.2114451T>CCA394387465PKD1c.2572A>G (p.Thr858Ala)
c.472+3038A>G
n.31A>G
c.1503A>G (n.1503A>G)
c.2626A>G (p.Thr876Ala)
c.2554A>G (p.Thr852Ala)
c.2500A>G (p.Thr834Ala)
c.2419A>G (p.Thr807Ala)
c.2362A>G (p.Thr788Ala)
c.448A>G (p.Thr150Ala)
n.2641A>G
c.-478A>G (n.-478A>G)
 dbSNP gnomAD v2 gnomAD v4
16g.2114451T>GCA394387464PKD1c.2572A>C (p.Thr858Pro)
c.472+3038A>C
n.31A>C
c.1503A>C (n.1503A>C)
c.2626A>C (p.Thr876Pro)
c.2554A>C (p.Thr852Pro)
c.2500A>C (p.Thr834Pro)
c.2419A>C (p.Thr807Pro)
c.2362A>C (p.Thr788Pro)
c.448A>C (p.Thr150Pro)
n.2641A>C
c.-478A>C (n.-478A>C)
16g.2114451T=CA2202049717PKD1c.2572A= (p.Thr858=)
c.472+3038A=
n.31A=
c.1503A= (n.1503A=)
c.2626A= (p.Thr876=)
c.2554A= (p.Thr852=)
c.2500A= (p.Thr834=)
c.2419A= (p.Thr807=)
c.2362A= (p.Thr788=)
c.448A= (p.Thr150=)
n.2641A=
c.-478A= (n.-478A=)
16g.2114452G>ACA493049603PKD1c.2571C>T (p.Ala857=)
c.472+3037C>T
n.30C>T
c.1502C>T (n.1502C>T)
c.2625C>T (p.Ala875=)
c.2553C>T (p.Ala851=)
c.2499C>T (p.Ala833=)
c.2418C>T (p.Ala806=)
c.2361C>T (p.Ala787=)
c.447C>T (p.Ala149=)
n.2640C>T
c.-479C>T (n.-479C>T)
16g.2114452G>CCA493049605PKD1c.2571C>G (p.Ala857=)
c.472+3037C>G
n.30C>G
c.1502C>G (n.1502C>G)
c.2625C>G (p.Ala875=)
c.2553C>G (p.Ala851=)
c.2499C>G (p.Ala833=)
c.2418C>G (p.Ala806=)
c.2361C>G (p.Ala787=)
c.447C>G (p.Ala149=)
n.2640C>G
c.-479C>G (n.-479C>G)
16g.2114452G>TCA493049606PKD1c.2571C>A (p.Ala857=)
c.472+3037C>A
n.30C>A
c.1502C>A (n.1502C>A)
c.2625C>A (p.Ala875=)
c.2553C>A (p.Ala851=)
c.2499C>A (p.Ala833=)
c.2418C>A (p.Ala806=)
c.2361C>A (p.Ala787=)
c.447C>A (p.Ala149=)
n.2640C>A
c.-479C>A (n.-479C>A)
16g.2114453G>ACA7833167PKD1c.2570C>T (p.Ala857Val)
c.472+3036C>T
n.29C>T
c.1501C>T (n.1501C>T)
c.2624C>T (p.Ala875Val)
c.2552C>T (p.Ala851Val)
c.2498C>T (p.Ala833Val)
c.2417C>T (p.Ala806Val)
c.2360C>T (p.Ala787Val)
c.446C>T (p.Ala149Val)
n.2639C>T
c.-480C>T (n.-480C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114453G>CCA394387467PKD1c.2570C>G (p.Ala857Gly)
c.472+3036C>G
n.29C>G
c.1501C>G (n.1501C>G)
c.2624C>G (p.Ala875Gly)
c.2552C>G (p.Ala851Gly)
c.2498C>G (p.Ala833Gly)
c.2417C>G (p.Ala806Gly)
c.2360C>G (p.Ala787Gly)
c.446C>G (p.Ala149Gly)
n.2639C>G
c.-480C>G (n.-480C>G)
16g.2114453G=CA2202049718PKD1c.2570C= (p.Ala857=)
c.472+3036C=
n.29C=
c.1501C= (n.1501C=)
c.2624C= (p.Ala875=)
c.2552C= (p.Ala851=)
c.2498C= (p.Ala833=)
c.2417C= (p.Ala806=)
c.2360C= (p.Ala787=)
c.446C= (p.Ala149=)
n.2639C=
c.-480C= (n.-480C=)
16g.2114453G>TCA394387468PKD1c.2570C>A (p.Ala857Asp)
c.472+3036C>A
n.29C>A
c.1501C>A (n.1501C>A)
c.2624C>A (p.Ala875Asp)
c.2552C>A (p.Ala851Asp)
c.2498C>A (p.Ala833Asp)
c.2417C>A (p.Ala806Asp)
c.2360C>A (p.Ala787Asp)
c.446C>A (p.Ala149Asp)
n.2639C>A
c.-480C>A (n.-480C>A)
16g.2114454C>ACA394387469PKD1c.2569G>T (p.Ala857Ser)
c.472+3035G>T
n.28G>T
c.1500G>T (n.1500G>T)
c.2623G>T (p.Ala875Ser)
c.2551G>T (p.Ala851Ser)
c.2497G>T (p.Ala833Ser)
c.2416G>T (p.Ala806Ser)
c.2359G>T (p.Ala787Ser)
c.445G>T (p.Ala149Ser)
n.2638G>T
c.-481G>T (n.-481G>T)
 gnomAD v4
16g.2114454C>GCA394387470PKD1c.2569G>C (p.Ala857Pro)
c.472+3035G>C
n.28G>C
c.1500G>C (n.1500G>C)
c.2623G>C (p.Ala875Pro)
c.2551G>C (p.Ala851Pro)
c.2497G>C (p.Ala833Pro)
c.2416G>C (p.Ala806Pro)
c.2359G>C (p.Ala787Pro)
c.445G>C (p.Ala149Pro)
n.2638G>C
c.-481G>C (n.-481G>C)
16g.2114454C>TCA394387471PKD1c.2569G>A (p.Ala857Thr)
c.472+3035G>A
n.28G>A
c.1500G>A (n.1500G>A)
c.2623G>A (p.Ala875Thr)
c.2551G>A (p.Ala851Thr)
c.2497G>A (p.Ala833Thr)
c.2416G>A (p.Ala806Thr)
c.2359G>A (p.Ala787Thr)
c.445G>A (p.Ala149Thr)
n.2638G>A
c.-481G>A (n.-481G>A)
 gnomAD v4
16g.2114455C>ACA493049612PKD1c.2568G>T (p.Thr856=)
c.472+3034G>T
n.27G>T
c.1499G>T (n.1499G>T)
c.2622G>T (p.Thr874=)
c.2550G>T (p.Thr850=)
c.2496G>T (p.Thr832=)
c.2415G>T (p.Thr805=)
c.2358G>T (p.Thr786=)
c.444G>T (p.Thr148=)
n.2637G>T
c.-482G>T (n.-482G>T)
 gnomAD v4
16g.2114455C=CA2202049719PKD1c.2568G= (p.Thr856=)
c.472+3034G=
n.27G=
c.1499G= (n.1499G=)
c.2622G= (p.Thr874=)
c.2550G= (p.Thr850=)
c.2496G= (p.Thr832=)
c.2415G= (p.Thr805=)
c.2358G= (p.Thr786=)
c.444G= (p.Thr148=)
n.2637G=
c.-482G= (n.-482G=)
16g.2114455C>GCA493049613PKD1c.2568G>C (p.Thr856=)
c.472+3034G>C
n.27G>C
c.1499G>C (n.1499G>C)
c.2622G>C (p.Thr874=)
c.2550G>C (p.Thr850=)
c.2496G>C (p.Thr832=)
c.2415G>C (p.Thr805=)
c.2358G>C (p.Thr786=)
c.444G>C (p.Thr148=)
n.2637G>C
c.-482G>C (n.-482G>C)
16g.2114455C>TCA7833168PKD1c.2568G>A (p.Thr856=)
c.472+3034G>A
n.27G>A
c.1499G>A (n.1499G>A)
c.2622G>A (p.Thr874=)
c.2550G>A (p.Thr850=)
c.2496G>A (p.Thr832=)
c.2415G>A (p.Thr805=)
c.2358G>A (p.Thr786=)
c.444G>A (p.Thr148=)
n.2637G>A
c.-482G>A (n.-482G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114456G>ACA7833169PKD1c.2567C>T (p.Thr856Met)
c.472+3033C>T
n.26C>T
c.1498C>T (n.1498C>T)
c.2621C>T (p.Thr874Met)
c.2549C>T (p.Thr850Met)
c.2495C>T (p.Thr832Met)
c.2414C>T (p.Thr805Met)
c.2357C>T (p.Thr786Met)
c.443C>T (p.Thr148Met)
n.2636C>T
c.-483C>T (n.-483C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114456G>CCA394387474PKD1c.2567C>G (p.Thr856Arg)
c.472+3033C>G
n.26C>G
c.1498C>G (n.1498C>G)
c.2621C>G (p.Thr874Arg)
c.2549C>G (p.Thr850Arg)
c.2495C>G (p.Thr832Arg)
c.2414C>G (p.Thr805Arg)
c.2357C>G (p.Thr786Arg)
c.443C>G (p.Thr148Arg)
n.2636C>G
c.-483C>G (n.-483C>G)
16g.2114456G=CA2202049720PKD1c.2567C= (p.Thr856=)
c.472+3033C=
n.26C=
c.1498C= (n.1498C=)
c.2621C= (p.Thr874=)
c.2549C= (p.Thr850=)
c.2495C= (p.Thr832=)
c.2414C= (p.Thr805=)
c.2357C= (p.Thr786=)
c.443C= (p.Thr148=)
n.2636C=
c.-483C= (n.-483C=)
16g.2114456G>TCA394387475PKD1c.2567C>A (p.Thr856Lys)
c.472+3033C>A
n.26C>A
c.1498C>A (n.1498C>A)
c.2621C>A (p.Thr874Lys)
c.2549C>A (p.Thr850Lys)
c.2495C>A (p.Thr832Lys)
c.2414C>A (p.Thr805Lys)
c.2357C>A (p.Thr786Lys)
c.443C>A (p.Thr148Lys)
n.2636C>A
c.-483C>A (n.-483C>A)
 dbSNP gnomAD v2 gnomAD v4
16g.2114456_2114462delinsGTGGCGTCA2202049721PKD1c.2561_2567delinsACGCCAC (p.Asn854=)
c.472+3027_472+3033delinsACGCCAC
n.20_26delinsACGCCAC
c.1492_1498delinsACGCCAC (n.1492_1498delinsACGCCAC)
c.2615_2621delinsACGCCAC (p.Asn872=)
c.2543_2549delinsACGCCAC (p.Asn848=)
c.2489_2495delinsACGCCAC (p.Asn830=)
c.2408_2414delinsACGCCAC (p.Asn803=)
c.2351_2357delinsACGCCAC (p.Asn784=)
c.437_443delinsACGCCAC (p.Asn146=)
n.2630_2636delinsACGCCAC
c.-489_-483delinsACGCCAC (n.-489_-483delinsACGCCAC)
16g.2114457T>ACA394387481PKD1c.2566A>T (p.Thr856Ser)
c.472+3032A>T
n.25A>T
c.1497A>T (n.1497A>T)
c.2620A>T (p.Thr874Ser)
c.2548A>T (p.Thr850Ser)
c.2494A>T (p.Thr832Ser)
c.2413A>T (p.Thr805Ser)
c.2356A>T (p.Thr786Ser)
c.442A>T (p.Thr148Ser)
n.2635A>T
c.-484A>T (n.-484A>T)
16g.2114457T>CCA394387480PKD1c.2566A>G (p.Thr856Ala)
c.472+3032A>G
n.25A>G
c.1497A>G (n.1497A>G)
c.2620A>G (p.Thr874Ala)
c.2548A>G (p.Thr850Ala)
c.2494A>G (p.Thr832Ala)
c.2413A>G (p.Thr805Ala)
c.2356A>G (p.Thr786Ala)
c.442A>G (p.Thr148Ala)
n.2635A>G
c.-484A>G (n.-484A>G)
16g.2114457T>GCA394387478PKD1c.2566A>C (p.Thr856Pro)
c.472+3032A>C
n.25A>C
c.1497A>C (n.1497A>C)
c.2620A>C (p.Thr874Pro)
c.2548A>C (p.Thr850Pro)
c.2494A>C (p.Thr832Pro)
c.2413A>C (p.Thr805Pro)
c.2356A>C (p.Thr786Pro)
c.442A>C (p.Thr148Pro)
n.2635A>C
c.-484A>C (n.-484A>C)
16g.2114461_2114466delCA620705844PKD1c.2561_2566del (p.Asn854_Ala855del)
c.472+3027_472+3032del
n.20_25del
c.1492_1497del (n.1492_1497del)
c.2615_2620del (p.Asn872_Ala873del)
c.2543_2548del (p.Asn848_Ala849del)
c.2489_2494del (p.Asn830_Ala831del)
c.2408_2413del (p.Asn803_Ala804del)
c.2351_2356del (p.Asn784_Ala785del)
c.437_442del (p.Asn146_Ala147del)
n.2630_2635del
c.-489_-484del (n.-489_-484del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114458G>ACA493049618PKD1c.2565C>T (p.Ala855=)
c.472+3031C>T
n.24C>T
c.1496C>T (n.1496C>T)
c.2619C>T (p.Ala873=)
c.2547C>T (p.Ala849=)
c.2493C>T (p.Ala831=)
c.2412C>T (p.Ala804=)
c.2355C>T (p.Ala785=)
c.441C>T (p.Ala147=)
n.2634C>T
c.-485C>T (n.-485C>T)
16g.2114458G>CCA493049625PKD1c.2565C>G (p.Ala855=)
c.472+3031C>G
n.24C>G
c.1496C>G (n.1496C>G)
c.2619C>G (p.Ala873=)
c.2547C>G (p.Ala849=)
c.2493C>G (p.Ala831=)
c.2412C>G (p.Ala804=)
c.2355C>G (p.Ala785=)
c.441C>G (p.Ala147=)
n.2634C>G
c.-485C>G (n.-485C>G)
16g.2114458G>TCA493049627PKD1c.2565C>A (p.Ala855=)
c.472+3031C>A
n.24C>A
c.1496C>A (n.1496C>A)
c.2619C>A (p.Ala873=)
c.2547C>A (p.Ala849=)
c.2493C>A (p.Ala831=)
c.2412C>A (p.Ala804=)
c.2355C>A (p.Ala785=)
c.441C>A (p.Ala147=)
n.2634C>A
c.-485C>A (n.-485C>A)
16g.2114459G>ACA394387486PKD1c.2564C>T (p.Ala855Val)
c.472+3030C>T
n.23C>T
c.1495C>T (n.1495C>T)
c.2618C>T (p.Ala873Val)
c.2546C>T (p.Ala849Val)
c.2492C>T (p.Ala831Val)
c.2411C>T (p.Ala804Val)
c.2354C>T (p.Ala785Val)
c.440C>T (p.Ala147Val)
n.2633C>T
c.-486C>T (n.-486C>T)
16g.2114459G>CCA394387482PKD1c.2564C>G (p.Ala855Gly)
c.472+3030C>G
n.23C>G
c.1495C>G (n.1495C>G)
c.2618C>G (p.Ala873Gly)
c.2546C>G (p.Ala849Gly)
c.2492C>G (p.Ala831Gly)
c.2411C>G (p.Ala804Gly)
c.2354C>G (p.Ala785Gly)
c.440C>G (p.Ala147Gly)
n.2633C>G
c.-486C>G (n.-486C>G)
 gnomAD v4
16g.2114459G>TCA394387484PKD1c.2564C>A (p.Ala855Asp)
c.472+3030C>A
n.23C>A
c.1495C>A (n.1495C>A)
c.2618C>A (p.Ala873Asp)
c.2546C>A (p.Ala849Asp)
c.2492C>A (p.Ala831Asp)
c.2411C>A (p.Ala804Asp)
c.2354C>A (p.Ala785Asp)
c.440C>A (p.Ala147Asp)
n.2633C>A
c.-486C>A (n.-486C>A)
16g.2114460C>ACA394387488PKD1c.2563G>T (p.Ala855Ser)
c.472+3029G>T
n.22G>T
c.1494G>T (n.1494G>T)
c.2617G>T (p.Ala873Ser)
c.2545G>T (p.Ala849Ser)
c.2491G>T (p.Ala831Ser)
c.2410G>T (p.Ala804Ser)
c.2353G>T (p.Ala785Ser)
c.439G>T (p.Ala147Ser)
n.2632G>T
c.-487G>T (n.-487G>T)
 gnomAD v4
16g.2114460C=CA2202049722PKD1c.2563G= (p.Ala855=)
c.472+3029G=
n.22G=
c.1494G= (n.1494G=)
c.2617G= (p.Ala873=)
c.2545G= (p.Ala849=)
c.2491G= (p.Ala831=)
c.2410G= (p.Ala804=)
c.2353G= (p.Ala785=)
c.439G= (p.Ala147=)
n.2632G=
c.-487G= (n.-487G=)
16g.2114460C>GCA394387489PKD1c.2563G>C (p.Ala855Pro)
c.472+3029G>C
n.22G>C
c.1494G>C (n.1494G>C)
c.2617G>C (p.Ala873Pro)
c.2545G>C (p.Ala849Pro)
c.2491G>C (p.Ala831Pro)
c.2410G>C (p.Ala804Pro)
c.2353G>C (p.Ala785Pro)
c.439G>C (p.Ala147Pro)
n.2632G>C
c.-487G>C (n.-487G>C)
16g.2114460C>TCA276782797PKD1c.2563G>A (p.Ala855Thr)
c.472+3029G>A
n.22G>A
c.1494G>A (n.1494G>A)
c.2617G>A (p.Ala873Thr)
c.2545G>A (p.Ala849Thr)
c.2491G>A (p.Ala831Thr)
c.2410G>A (p.Ala804Thr)
c.2353G>A (p.Ala785Thr)
c.439G>A (p.Ala147Thr)
n.2632G>A
c.-487G>A (n.-487G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.2114461G>ACA7833170PKD1c.2562C>T (p.Asn854=)
c.472+3028C>T
n.21C>T
c.1493C>T (n.1493C>T)
c.2616C>T (p.Asn872=)
c.2544C>T (p.Asn848=)
c.2490C>T (p.Asn830=)
c.2409C>T (p.Asn803=)
c.2352C>T (p.Asn784=)
c.438C>T (p.Asn146=)
n.2631C>T
c.-488C>T (n.-488C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114461G>CCA394387493PKD1c.2562C>G (p.Asn854Lys)
c.472+3028C>G
n.21C>G
c.1493C>G (n.1493C>G)
c.2616C>G (p.Asn872Lys)
c.2544C>G (p.Asn848Lys)
c.2490C>G (p.Asn830Lys)
c.2409C>G (p.Asn803Lys)
c.2352C>G (p.Asn784Lys)
c.438C>G (p.Asn146Lys)
n.2631C>G
c.-488C>G (n.-488C>G)
16g.2114461G=CA2202049723PKD1c.2562C= (p.Asn854=)
c.472+3028C=
n.21C=
c.1493C= (n.1493C=)
c.2616C= (p.Asn872=)
c.2544C= (p.Asn848=)
c.2490C= (p.Asn830=)
c.2409C= (p.Asn803=)
c.2352C= (p.Asn784=)
c.438C= (p.Asn146=)
n.2631C=
c.-488C= (n.-488C=)
16g.2114461G>TCA394387491PKD1c.2562C>A (p.Asn854Lys)
c.472+3028C>A
n.21C>A
c.1493C>A (n.1493C>A)
c.2616C>A (p.Asn872Lys)
c.2544C>A (p.Asn848Lys)
c.2490C>A (p.Asn830Lys)
c.2409C>A (p.Asn803Lys)
c.2352C>A (p.Asn784Lys)
c.438C>A (p.Asn146Lys)
n.2631C>A
c.-488C>A (n.-488C>A)
16g.2114462T>ACA394387495PKD1c.2561A>T (p.Asn854Ile)
c.472+3027A>T
n.20A>T
c.1492A>T (n.1492A>T)
c.2615A>T (p.Asn872Ile)
c.2543A>T (p.Asn848Ile)
c.2489A>T (p.Asn830Ile)
c.2408A>T (p.Asn803Ile)
c.2351A>T (p.Asn784Ile)
c.437A>T (p.Asn146Ile)
n.2630A>T
c.-489A>T (n.-489A>T)
 gnomAD v4
16g.2114462T>CCA7833171PKD1c.2561A>G (p.Asn854Ser)
c.472+3027A>G
n.20A>G
c.1492A>G (n.1492A>G)
c.2615A>G (p.Asn872Ser)
c.2543A>G (p.Asn848Ser)
c.2489A>G (p.Asn830Ser)
c.2408A>G (p.Asn803Ser)
c.2351A>G (p.Asn784Ser)
c.437A>G (p.Asn146Ser)
n.2630A>G
c.-489A>G (n.-489A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114462T>GCA394387497PKD1c.2561A>C (p.Asn854Thr)
c.472+3027A>C
n.20A>C
c.1492A>C (n.1492A>C)
c.2615A>C (p.Asn872Thr)
c.2543A>C (p.Asn848Thr)
c.2489A>C (p.Asn830Thr)
c.2408A>C (p.Asn803Thr)
c.2351A>C (p.Asn784Thr)
c.437A>C (p.Asn146Thr)
n.2630A>C
c.-489A>C (n.-489A>C)
 gnomAD v4
16g.2114462T=CA2202049724PKD1c.2561A= (p.Asn854=)
c.472+3027A=
n.20A=
c.1492A= (n.1492A=)
c.2615A= (p.Asn872=)
c.2543A= (p.Asn848=)
c.2489A= (p.Asn830=)
c.2408A= (p.Asn803=)
c.2351A= (p.Asn784=)
c.437A= (p.Asn146=)
n.2630A=
c.-489A= (n.-489A=)
16g.2114463T>ACA394387499PKD1c.2560A>T (p.Asn854Tyr)
c.472+3026A>T
n.19A>T
c.1491A>T (n.1491A>T)
c.2614A>T (p.Asn872Tyr)
c.2542A>T (p.Asn848Tyr)
c.2488A>T (p.Asn830Tyr)
c.2407A>T (p.Asn803Tyr)
c.2350A>T (p.Asn784Tyr)
c.436A>T (p.Asn146Tyr)
n.2629A>T
c.-490A>T (n.-490A>T)
16g.2114463T>CCA394387500PKD1c.2560A>G (p.Asn854Asp)
c.472+3026A>G
n.19A>G
c.1491A>G (n.1491A>G)
c.2614A>G (p.Asn872Asp)
c.2542A>G (p.Asn848Asp)
c.2488A>G (p.Asn830Asp)
c.2407A>G (p.Asn803Asp)
c.2350A>G (p.Asn784Asp)
c.436A>G (p.Asn146Asp)
n.2629A>G
c.-490A>G (n.-490A>G)
16g.2114463T>GCA394387501PKD1c.2560A>C (p.Asn854His)
c.472+3026A>C
n.19A>C
c.1491A>C (n.1491A>C)
c.2614A>C (p.Asn872His)
c.2542A>C (p.Asn848His)
c.2488A>C (p.Asn830His)
c.2407A>C (p.Asn803His)
c.2350A>C (p.Asn784His)
c.436A>C (p.Asn146His)
n.2629A>C
c.-490A>C (n.-490A>C)
16g.2114464G>ACA493049654PKD1c.2559C>T (p.Ala853=)
c.472+3025C>T
n.18C>T
c.1490C>T (n.1490C>T)
c.2613C>T (p.Ala871=)
c.2541C>T (p.Ala847=)
c.2487C>T (p.Ala829=)
c.2406C>T (p.Ala802=)
c.2349C>T (p.Ala783=)
c.435C>T (p.Ala145=)
n.2628C>T
c.-491C>T (n.-491C>T)
 dbSNP gnomAD v4 COSMIC
16g.2114464G>CCA493049655PKD1c.2559C>G (p.Ala853=)
c.472+3025C>G
n.18C>G
c.1490C>G (n.1490C>G)
c.2613C>G (p.Ala871=)
c.2541C>G (p.Ala847=)
c.2487C>G (p.Ala829=)
c.2406C>G (p.Ala802=)
c.2349C>G (p.Ala783=)
c.435C>G (p.Ala145=)
n.2628C>G
c.-491C>G (n.-491C>G)
16g.2114464G=CA2202049725PKD1c.2559C= (p.Ala853=)
c.472+3025C=
n.18C=
c.1490C= (n.1490C=)
c.2613C= (p.Ala871=)
c.2541C= (p.Ala847=)
c.2487C= (p.Ala829=)
c.2406C= (p.Ala802=)
c.2349C= (p.Ala783=)
c.435C= (p.Ala145=)
n.2628C=
c.-491C= (n.-491C=)
16g.2114464G>TCA493049653PKD1c.2559C>A (p.Ala853=)
c.472+3025C>A
n.18C>A
c.1490C>A (n.1490C>A)
c.2613C>A (p.Ala871=)
c.2541C>A (p.Ala847=)
c.2487C>A (p.Ala829=)
c.2406C>A (p.Ala802=)
c.2349C>A (p.Ala783=)
c.435C>A (p.Ala145=)
n.2628C>A
c.-491C>A (n.-491C>A)
16g.2114465G>ACA276782798PKD1c.2558C>T (p.Ala853Val)
c.472+3024C>T
n.17C>T
c.1489C>T (n.1489C>T)
c.2612C>T (p.Ala871Val)
c.2540C>T (p.Ala847Val)
c.2486C>T (p.Ala829Val)
c.2405C>T (p.Ala802Val)
c.2348C>T (p.Ala783Val)
c.434C>T (p.Ala145Val)
n.2627C>T
c.-492C>T (n.-492C>T)
 dbSNP gnomAD v4
16g.2114465G>CCA394387505PKD1c.2558C>G (p.Ala853Gly)
c.472+3024C>G
n.17C>G
c.1489C>G (n.1489C>G)
c.2612C>G (p.Ala871Gly)
c.2540C>G (p.Ala847Gly)
c.2486C>G (p.Ala829Gly)
c.2405C>G (p.Ala802Gly)
c.2348C>G (p.Ala783Gly)
c.434C>G (p.Ala145Gly)
n.2627C>G
c.-492C>G (n.-492C>G)
 dbSNP gnomAD v4
16g.2114465G=CA2202049726PKD1c.2558C= (p.Ala853=)
c.472+3024C=
n.17C=
c.1489C= (n.1489C=)
c.2612C= (p.Ala871=)
c.2540C= (p.Ala847=)
c.2486C= (p.Ala829=)
c.2405C= (p.Ala802=)
c.2348C= (p.Ala783=)
c.434C= (p.Ala145=)
n.2627C=
c.-492C= (n.-492C=)
16g.2114465G>TCA394387503PKD1c.2558C>A (p.Ala853Asp)
c.472+3024C>A
n.17C>A
c.1489C>A (n.1489C>A)
c.2612C>A (p.Ala871Asp)
c.2540C>A (p.Ala847Asp)
c.2486C>A (p.Ala829Asp)
c.2405C>A (p.Ala802Asp)
c.2348C>A (p.Ala783Asp)
c.434C>A (p.Ala145Asp)
n.2627C>A
c.-492C>A (n.-492C>A)
 dbSNP
16g.2114465_2114475delinsGCACCAGAGTCCA2202049727PKD1c.2548_2558delinsGACTCTGGTGC (p.Asp850=)
c.472+3014_472+3024delinsGACTCTGGTGC
n.7_17delinsGACTCTGGTGC
c.1479_1489delinsGACTCTGGTGC (n.1479_1489delinsGACTCTGGTGC)
c.2602_2612delinsGACTCTGGTGC (p.Asp868=)
c.2530_2540delinsGACTCTGGTGC (p.Asp844=)
c.2476_2486delinsGACTCTGGTGC (p.Asp826=)
c.2395_2405delinsGACTCTGGTGC (p.Asp799=)
c.2338_2348delinsGACTCTGGTGC (p.Asp780=)
c.424_434delinsGACTCTGGTGC (p.Asp142=)
n.2617_2627delinsGACTCTGGTGC
c.-502_-492delinsGACTCTGGTGC (n.-502_-492delinsGACTCTGGTGC)
16g.2114466C>ACA394387507PKD1c.2557G>T (p.Ala853Ser)
c.472+3023G>T
n.16G>T
c.1488G>T (n.1488G>T)
c.2611G>T (p.Ala871Ser)
c.2539G>T (p.Ala847Ser)
c.2485G>T (p.Ala829Ser)
c.2404G>T (p.Ala802Ser)
c.2347G>T (p.Ala783Ser)
c.433G>T (p.Ala145Ser)
n.2626G>T
c.-493G>T (n.-493G>T)
16g.2114466C=CA2202049728PKD1c.2557G= (p.Ala853=)
c.472+3023G=
n.16G=
c.1488G= (n.1488G=)
c.2611G= (p.Ala871=)
c.2539G= (p.Ala847=)
c.2485G= (p.Ala829=)
c.2404G= (p.Ala802=)
c.2347G= (p.Ala783=)
c.433G= (p.Ala145=)
n.2626G=
c.-493G= (n.-493G=)
16g.2114466C>GCA394387509PKD1c.2557G>C (p.Ala853Pro)
c.472+3023G>C
n.16G>C
c.1488G>C (n.1488G>C)
c.2611G>C (p.Ala871Pro)
c.2539G>C (p.Ala847Pro)
c.2485G>C (p.Ala829Pro)
c.2404G>C (p.Ala802Pro)
c.2347G>C (p.Ala783Pro)
c.433G>C (p.Ala145Pro)
n.2626G>C
c.-493G>C (n.-493G>C)
16g.2114466C>TCA394387510PKD1c.2557G>A (p.Ala853Thr)
c.472+3023G>A
n.16G>A
c.1488G>A (n.1488G>A)
c.2611G>A (p.Ala871Thr)
c.2539G>A (p.Ala847Thr)
c.2485G>A (p.Ala829Thr)
c.2404G>A (p.Ala802Thr)
c.2347G>A (p.Ala783Thr)
c.433G>A (p.Ala145Thr)
n.2626G>A
c.-493G>A (n.-493G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.2114470_2114479delCA915949016PKD1c.2548_2557del (p.Asp850ProfsTer?)
c.472+3014_472+3023del
n.7_16del
c.1479_1488del (n.1479_1488del)
c.2602_2611del (p.Asp868ProfsTer?)
c.2530_2539del (p.Asp844ProfsTer?)
c.2476_2485del (p.Asp826ProfsTer?)
c.2395_2404del (p.Asp799ProfsTer?)
c.2338_2347del (p.Asp780ProfsTer?)
c.424_433del (p.Asp142ProfsTer?)
n.2617_2626del
c.-502_-493del (n.-502_-493del)
 ClinVar dbSNP
16g.2114467A>CCA493049665PKD1c.2556T>G (p.Gly852=)
c.472+3022T>G
n.15T>G
c.1487T>G (n.1487T>G)
c.2610T>G (p.Gly870=)
c.2538T>G (p.Gly846=)
c.2484T>G (p.Gly828=)
c.2403T>G (p.Gly801=)
c.2346T>G (p.Gly782=)
c.432T>G (p.Gly144=)
n.2625T>G
c.-494T>G (n.-494T>G)
 ClinVar
16g.2114467A>GCA493049662PKD1c.2556T>C (p.Gly852=)
c.472+3022T>C
n.15T>C
c.1487T>C (n.1487T>C)
c.2610T>C (p.Gly870=)
c.2538T>C (p.Gly846=)
c.2484T>C (p.Gly828=)
c.2403T>C (p.Gly801=)
c.2346T>C (p.Gly782=)
c.432T>C (p.Gly144=)
n.2625T>C
c.-494T>C (n.-494T>C)
16g.2114467A>TCA493049664PKD1c.2556T>A (p.Gly852=)
c.472+3022T>A
n.15T>A
c.1487T>A (n.1487T>A)
c.2610T>A (p.Gly870=)
c.2538T>A (p.Gly846=)
c.2484T>A (p.Gly828=)
c.2403T>A (p.Gly801=)
c.2346T>A (p.Gly782=)
c.432T>A (p.Gly144=)
n.2625T>A
c.-494T>A (n.-494T>A)
 gnomAD v4
16g.2114468C>ACA394387512PKD1c.2555G>T (p.Gly852Val)
c.472+3021G>T
n.14G>T
c.1486G>T (n.1486G>T)
c.2609G>T (p.Gly870Val)
c.2537G>T (p.Gly846Val)
c.2483G>T (p.Gly828Val)
c.2402G>T (p.Gly801Val)
c.2345G>T (p.Gly782Val)
c.431G>T (p.Gly144Val)
n.2624G>T
c.-495G>T (n.-495G>T)
 ClinVar dbSNP gnomAD v4
16g.2114468C=CA2202049729PKD1c.2555G= (p.Gly852=)
c.472+3021G=
n.14G=
c.1486G= (n.1486G=)
c.2609G= (p.Gly870=)
c.2537G= (p.Gly846=)
c.2483G= (p.Gly828=)
c.2402G= (p.Gly801=)
c.2345G= (p.Gly782=)
c.431G= (p.Gly144=)
n.2624G=
c.-495G= (n.-495G=)
16g.2114468C>GCA394387513PKD1c.2555G>C (p.Gly852Ala)
c.472+3021G>C
n.14G>C
c.1486G>C (n.1486G>C)
c.2609G>C (p.Gly870Ala)
c.2537G>C (p.Gly846Ala)
c.2483G>C (p.Gly828Ala)
c.2402G>C (p.Gly801Ala)
c.2345G>C (p.Gly782Ala)
c.431G>C (p.Gly144Ala)
n.2624G>C
c.-495G>C (n.-495G>C)
16g.2114468C>TCA394387515PKD1c.2555G>A (p.Gly852Asp)
c.472+3021G>A
n.14G>A
c.1486G>A (n.1486G>A)
c.2609G>A (p.Gly870Asp)
c.2537G>A (p.Gly846Asp)
c.2483G>A (p.Gly828Asp)
c.2402G>A (p.Gly801Asp)
c.2345G>A (p.Gly782Asp)
c.431G>A (p.Gly144Asp)
n.2624G>A
c.-495G>A (n.-495G>A)
 gnomAD v4
16g.2114469C>ACA394387516PKD1c.2554G>T (p.Gly852Cys)
c.472+3020G>T
n.13G>T
c.1485G>T (n.1485G>T)
c.2608G>T (p.Gly870Cys)
c.2536G>T (p.Gly846Cys)
c.2482G>T (p.Gly828Cys)
c.2401G>T (p.Gly801Cys)
c.2344G>T (p.Gly782Cys)
c.430G>T (p.Gly144Cys)
n.2623G>T
c.-496G>T (n.-496G>T)
16g.2114469C>GCA394387517PKD1c.2554G>C (p.Gly852Arg)
c.472+3020G>C
n.13G>C
c.1485G>C (n.1485G>C)
c.2608G>C (p.Gly870Arg)
c.2536G>C (p.Gly846Arg)
c.2482G>C (p.Gly828Arg)
c.2401G>C (p.Gly801Arg)
c.2344G>C (p.Gly782Arg)
c.430G>C (p.Gly144Arg)
n.2623G>C
c.-496G>C (n.-496G>C)
16g.2114469C>TCA394387518PKD1c.2554G>A (p.Gly852Ser)
c.472+3020G>A
n.13G>A
c.1485G>A (n.1485G>A)
c.2608G>A (p.Gly870Ser)
c.2536G>A (p.Gly846Ser)
c.2482G>A (p.Gly828Ser)
c.2401G>A (p.Gly801Ser)
c.2344G>A (p.Gly782Ser)
c.430G>A (p.Gly144Ser)
n.2623G>A
c.-496G>A (n.-496G>A)
16g.2114470A=CA2202049730PKD1c.2553T= (p.Ser851=)
c.472+3019T=
n.12T=
c.1484T= (n.1484T=)
c.2607T= (p.Ser869=)
c.2535T= (p.Ser845=)
c.2481T= (p.Ser827=)
c.2400T= (p.Ser800=)
c.2343T= (p.Ser781=)
c.429T= (p.Ser143=)
n.2622T=
c.-497T= (n.-497T=)
16g.2114470A>CCA493049666PKD1c.2553T>G (p.Ser851=)
c.472+3019T>G
n.12T>G
c.1484T>G (n.1484T>G)
c.2607T>G (p.Ser869=)
c.2535T>G (p.Ser845=)
c.2481T>G (p.Ser827=)
c.2400T>G (p.Ser800=)
c.2343T>G (p.Ser781=)
c.429T>G (p.Ser143=)
n.2622T>G
c.-497T>G (n.-497T>G)
16g.2114470A>GCA493049669PKD1c.2553T>C (p.Ser851=)
c.472+3019T>C
n.12T>C
c.1484T>C (n.1484T>C)
c.2607T>C (p.Ser869=)
c.2535T>C (p.Ser845=)
c.2481T>C (p.Ser827=)
c.2400T>C (p.Ser800=)
c.2343T>C (p.Ser781=)
c.429T>C (p.Ser143=)
n.2622T>C
c.-497T>C (n.-497T>C)
 dbSNP gnomAD v4
16g.2114470A>TCA493049668PKD1c.2553T>A (p.Ser851=)
c.472+3019T>A
n.12T>A
c.1484T>A (n.1484T>A)
c.2607T>A (p.Ser869=)
c.2535T>A (p.Ser845=)
c.2481T>A (p.Ser827=)
c.2400T>A (p.Ser800=)
c.2343T>A (p.Ser781=)
c.429T>A (p.Ser143=)
n.2622T>A
c.-497T>A (n.-497T>A)
16g.2114472_2114473delCA2695196535PKD1c.2552_2553del (p.Ser851TrpfsTer20)
c.472+3018_472+3019del
n.11_12del
c.1483_1484del (n.1483_1484del)
c.2606_2607del (p.Ser869TrpfsTer20)
c.2534_2535del (p.Ser845TrpfsTer20)
c.2480_2481del (p.Ser827TrpfsTer20)
c.2399_2400del (p.Ser800TrpfsTer20)
c.2342_2343del (p.Ser781TrpfsTer20)
c.428_429del (p.Ser143TrpfsTer20)
n.2621_2622del
c.-498_-497del (n.-498_-497del)
16g.2114471G>ACA394387520PKD1c.2552C>T (p.Ser851Phe)
c.472+3018C>T
n.11C>T
c.1483C>T (n.1483C>T)
c.2606C>T (p.Ser869Phe)
c.2534C>T (p.Ser845Phe)
c.2480C>T (p.Ser827Phe)
c.2399C>T (p.Ser800Phe)
c.2342C>T (p.Ser781Phe)
c.428C>T (p.Ser143Phe)
n.2621C>T
c.-498C>T (n.-498C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2114471G>CCA394387522PKD1c.2552C>G (p.Ser851Cys)
c.472+3018C>G
n.11C>G
c.1483C>G (n.1483C>G)
c.2606C>G (p.Ser869Cys)
c.2534C>G (p.Ser845Cys)
c.2480C>G (p.Ser827Cys)
c.2399C>G (p.Ser800Cys)
c.2342C>G (p.Ser781Cys)
c.428C>G (p.Ser143Cys)
n.2621C>G
c.-498C>G (n.-498C>G)
16g.2114471G=CA2202049731PKD1c.2552C= (p.Ser851=)
c.472+3018C=
n.11C=
c.1483C= (n.1483C=)
c.2606C= (p.Ser869=)
c.2534C= (p.Ser845=)
c.2480C= (p.Ser827=)
c.2399C= (p.Ser800=)
c.2342C= (p.Ser781=)
c.428C= (p.Ser143=)
n.2621C=
c.-498C= (n.-498C=)
16g.2114471G>TCA394387523PKD1c.2552C>A (p.Ser851Tyr)
c.472+3018C>A
n.11C>A
c.1483C>A (n.1483C>A)
c.2606C>A (p.Ser869Tyr)
c.2534C>A (p.Ser845Tyr)
c.2480C>A (p.Ser827Tyr)
c.2399C>A (p.Ser800Tyr)
c.2342C>A (p.Ser781Tyr)
c.428C>A (p.Ser143Tyr)
n.2621C>A
c.-498C>A (n.-498C>A)
16g.2114472A>CCA394387526PKD1c.2551T>G (p.Ser851Ala)
c.472+3017T>G
n.10T>G
c.1482T>G (n.1482T>G)
c.2605T>G (p.Ser869Ala)
c.2533T>G (p.Ser845Ala)
c.2479T>G (p.Ser827Ala)
c.2398T>G (p.Ser800Ala)
c.2341T>G (p.Ser781Ala)
c.427T>G (p.Ser143Ala)
n.2620T>G
c.-499T>G (n.-499T>G)
16g.2114472A>GCA394387528PKD1c.2551T>C (p.Ser851Pro)
c.472+3017T>C
n.10T>C
c.1482T>C (n.1482T>C)
c.2605T>C (p.Ser869Pro)
c.2533T>C (p.Ser845Pro)
c.2479T>C (p.Ser827Pro)
c.2398T>C (p.Ser800Pro)
c.2341T>C (p.Ser781Pro)
c.427T>C (p.Ser143Pro)
n.2620T>C
c.-499T>C (n.-499T>C)
16g.2114472A>TCA394387525PKD1c.2551T>A (p.Ser851Thr)
c.472+3017T>A
n.10T>A
c.1482T>A (n.1482T>A)
c.2605T>A (p.Ser869Thr)
c.2533T>A (p.Ser845Thr)
c.2479T>A (p.Ser827Thr)
c.2398T>A (p.Ser800Thr)
c.2341T>A (p.Ser781Thr)
c.427T>A (p.Ser143Thr)
n.2620T>A
c.-499T>A (n.-499T>A)
16g.2114473G>ACA493049671PKD1c.2550C>T (p.Asp850=)
c.472+3016C>T
n.9C>T
c.1481C>T (n.1481C>T)
c.2604C>T (p.Asp868=)
c.2532C>T (p.Asp844=)
c.2478C>T (p.Asp826=)
c.2397C>T (p.Asp799=)
c.2340C>T (p.Asp780=)
c.426C>T (p.Asp142=)
n.2619C>T
c.-500C>T (n.-500C>T)
16g.2114473G>CCA7833172PKD1c.2550C>G (p.Asp850Glu)
c.472+3016C>G
n.9C>G
c.1481C>G (n.1481C>G)
c.2604C>G (p.Asp868Glu)
c.2532C>G (p.Asp844Glu)
c.2478C>G (p.Asp826Glu)
c.2397C>G (p.Asp799Glu)
c.2340C>G (p.Asp780Glu)
c.426C>G (p.Asp142Glu)
n.2619C>G
c.-500C>G (n.-500C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114473G=CA2202049732PKD1c.2550C= (p.Asp850=)
c.472+3016C=
n.9C=
c.1481C= (n.1481C=)
c.2604C= (p.Asp868=)
c.2532C= (p.Asp844=)
c.2478C= (p.Asp826=)
c.2397C= (p.Asp799=)
c.2340C= (p.Asp780=)
c.426C= (p.Asp142=)
n.2619C=
c.-500C= (n.-500C=)
16g.2114473G>TCA394387530PKD1c.2550C>A (p.Asp850Glu)
c.472+3016C>A
n.9C>A
c.1481C>A (n.1481C>A)
c.2604C>A (p.Asp868Glu)
c.2532C>A (p.Asp844Glu)
c.2478C>A (p.Asp826Glu)
c.2397C>A (p.Asp799Glu)
c.2340C>A (p.Asp780Glu)
c.426C>A (p.Asp142Glu)
n.2619C>A
c.-500C>A (n.-500C>A)
16g.2114474T>ACA394387531PKD1c.2549A>T (p.Asp850Val)
c.472+3015A>T
n.8A>T
c.1480A>T (n.1480A>T)
c.2603A>T (p.Asp868Val)
c.2531A>T (p.Asp844Val)
c.2477A>T (p.Asp826Val)
c.2396A>T (p.Asp799Val)
c.2339A>T (p.Asp780Val)
c.425A>T (p.Asp142Val)
n.2618A>T
c.-501A>T (n.-501A>T)
 gnomAD v4
16g.2114474T>CCA394387533PKD1c.2549A>G (p.Asp850Gly)
c.472+3015A>G
n.8A>G
c.1480A>G (n.1480A>G)
c.2603A>G (p.Asp868Gly)
c.2531A>G (p.Asp844Gly)
c.2477A>G (p.Asp826Gly)
c.2396A>G (p.Asp799Gly)
c.2339A>G (p.Asp780Gly)
c.425A>G (p.Asp142Gly)
n.2618A>G
c.-501A>G (n.-501A>G)
 gnomAD v4
16g.2114474T>GCA394387534PKD1c.2549A>C (p.Asp850Ala)
c.472+3015A>C
n.8A>C
c.1480A>C (n.1480A>C)
c.2603A>C (p.Asp868Ala)
c.2531A>C (p.Asp844Ala)
c.2477A>C (p.Asp826Ala)
c.2396A>C (p.Asp799Ala)
c.2339A>C (p.Asp780Ala)
c.425A>C (p.Asp142Ala)
n.2618A>C
c.-501A>C (n.-501A>C)
16g.2114475C>ACA394387535PKD1c.2548G>T (p.Asp850Tyr)
c.472+3014G>T
n.7G>T
c.1479G>T (n.1479G>T)
c.2602G>T (p.Asp868Tyr)
c.2530G>T (p.Asp844Tyr)
c.2476G>T (p.Asp826Tyr)
c.2395G>T (p.Asp799Tyr)
c.2338G>T (p.Asp780Tyr)
c.424G>T (p.Asp142Tyr)
n.2617G>T
c.-502G>T (n.-502G>T)
16g.2114475C=CA2202049733PKD1c.2548G= (p.Asp850=)
c.472+3014G=
n.7G=
c.1479G= (n.1479G=)
c.2602G= (p.Asp868=)
c.2530G= (p.Asp844=)
c.2476G= (p.Asp826=)
c.2395G= (p.Asp799=)
c.2338G= (p.Asp780=)
c.424G= (p.Asp142=)
n.2617G=
c.-502G= (n.-502G=)
16g.2114475C>GCA394387536PKD1c.2548G>C (p.Asp850His)
c.472+3014G>C
n.7G>C
c.1479G>C (n.1479G>C)
c.2602G>C (p.Asp868His)
c.2530G>C (p.Asp844His)
c.2476G>C (p.Asp826His)
c.2395G>C (p.Asp799His)
c.2338G>C (p.Asp780His)
c.424G>C (p.Asp142His)
n.2617G>C
c.-502G>C (n.-502G>C)
 dbSNP gnomAD v3 gnomAD v4
16g.2114475C>TCA7833173PKD1c.2548G>A (p.Asp850Asn)
c.472+3014G>A
n.7G>A
c.1479G>A (n.1479G>A)
c.2602G>A (p.Asp868Asn)
c.2530G>A (p.Asp844Asn)
c.2476G>A (p.Asp826Asn)
c.2395G>A (p.Asp799Asn)
c.2338G>A (p.Asp780Asn)
c.424G>A (p.Asp142Asn)
n.2617G>A
c.-502G>A (n.-502G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114476C>ACA493049680PKD1c.2547G>T (p.Val849=)
c.472+3013G>T
n.6G>T
c.1478G>T (n.1478G>T)
c.2601G>T (p.Val867=)
c.2529G>T (p.Val843=)
c.2475G>T (p.Val825=)
c.2394G>T (p.Val798=)
c.2337G>T (p.Val779=)
c.423G>T (p.Val141=)
n.2616G>T
c.-503G>T (n.-503G>T)
16g.2114476C=CA2202049734PKD1c.2547G= (p.Val849=)
c.472+3013G=
n.6G=
c.1478G= (n.1478G=)
c.2601G= (p.Val867=)
c.2529G= (p.Val843=)
c.2475G= (p.Val825=)
c.2394G= (p.Val798=)
c.2337G= (p.Val779=)
c.423G= (p.Val141=)
n.2616G=
c.-503G= (n.-503G=)
16g.2114476C>GCA493049681PKD1c.2547G>C (p.Val849=)
c.472+3013G>C
n.6G>C
c.1478G>C (n.1478G>C)
c.2601G>C (p.Val867=)
c.2529G>C (p.Val843=)
c.2475G>C (p.Val825=)
c.2394G>C (p.Val798=)
c.2337G>C (p.Val779=)
c.423G>C (p.Val141=)
n.2616G>C
c.-503G>C (n.-503G>C)
16g.2114476C>TCA493049682PKD1c.2547G>A (p.Val849=)
c.472+3013G>A
n.6G>A
c.1478G>A (n.1478G>A)
c.2601G>A (p.Val867=)
c.2529G>A (p.Val843=)
c.2475G>A (p.Val825=)
c.2394G>A (p.Val798=)
c.2337G>A (p.Val779=)
c.423G>A (p.Val141=)
n.2616G>A
c.-503G>A (n.-503G>A)
 dbSNP gnomAD v4
16g.2114477A=CA2202049735PKD1c.2546T= (p.Val849=)
c.472+3012T=
n.5T=
c.1477T= (n.1477T=)
c.2600T= (p.Val867=)
c.2528T= (p.Val843=)
c.2474T= (p.Val825=)
c.2393T= (p.Val798=)
c.2336T= (p.Val779=)
c.422T= (p.Val141=)
n.2615T=
c.-504T= (n.-504T=)
16g.2114477A>CCA7833174PKD1c.2546T>G (p.Val849Gly)
c.472+3012T>G
n.5T>G
c.1477T>G (n.1477T>G)
c.2600T>G (p.Val867Gly)
c.2528T>G (p.Val843Gly)
c.2474T>G (p.Val825Gly)
c.2393T>G (p.Val798Gly)
c.2336T>G (p.Val779Gly)
c.422T>G (p.Val141Gly)
n.2615T>G
c.-504T>G (n.-504T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114477A>GCA394387539PKD1c.2546T>C (p.Val849Ala)
c.472+3012T>C
n.5T>C
c.1477T>C (n.1477T>C)
c.2600T>C (p.Val867Ala)
c.2528T>C (p.Val843Ala)
c.2474T>C (p.Val825Ala)
c.2393T>C (p.Val798Ala)
c.2336T>C (p.Val779Ala)
c.422T>C (p.Val141Ala)
n.2615T>C
c.-504T>C (n.-504T>C)
 dbSNP
16g.2114477A>TCA394387540PKD1c.2546T>A (p.Val849Glu)
c.472+3012T>A
n.5T>A
c.1477T>A (n.1477T>A)
c.2600T>A (p.Val867Glu)
c.2528T>A (p.Val843Glu)
c.2474T>A (p.Val825Glu)
c.2393T>A (p.Val798Glu)
c.2336T>A (p.Val779Glu)
c.422T>A (p.Val141Glu)
n.2615T>A
c.-504T>A (n.-504T>A)
16g.2114478C>ACA394387542PKD1c.2545G>T (p.Val849Leu)
c.472+3011G>T
n.4G>T
c.1476G>T (n.1476G>T)
c.2599G>T (p.Val867Leu)
c.2527G>T (p.Val843Leu)
c.2473G>T (p.Val825Leu)
c.2392G>T (p.Val798Leu)
c.2335G>T (p.Val779Leu)
c.421G>T (p.Val141Leu)
n.2614G>T
c.-505G>T (n.-505G>T)
16g.2114478C=CA2202049736PKD1c.2545G= (p.Val849=)
c.472+3011G=
n.4G=
c.1476G= (n.1476G=)
c.2599G= (p.Val867=)
c.2527G= (p.Val843=)
c.2473G= (p.Val825=)
c.2392G= (p.Val798=)
c.2335G= (p.Val779=)
c.421G= (p.Val141=)
n.2614G=
c.-505G= (n.-505G=)
16g.2114478C>GCA394387543PKD1c.2545G>C (p.Val849Leu)
c.472+3011G>C
n.4G>C
c.1476G>C (n.1476G>C)
c.2599G>C (p.Val867Leu)
c.2527G>C (p.Val843Leu)
c.2473G>C (p.Val825Leu)
c.2392G>C (p.Val798Leu)
c.2335G>C (p.Val779Leu)
c.421G>C (p.Val141Leu)
n.2614G>C
c.-505G>C (n.-505G>C)
16g.2114478C>TCA7833175PKD1c.2545G>A (p.Val849Met)
c.472+3011G>A
n.4G>A
c.1476G>A (n.1476G>A)
c.2599G>A (p.Val867Met)
c.2527G>A (p.Val843Met)
c.2473G>A (p.Val825Met)
c.2392G>A (p.Val798Met)
c.2335G>A (p.Val779Met)
c.421G>A (p.Val141Met)
n.2614G>A
c.-505G>A (n.-505G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114479C>ACA394387547PKD1c.2544G>T (p.Gln848His)
c.472+3010G>T
n.3G>T
c.1475G>T (n.1475G>T)
c.2598G>T (p.Gln866His)
c.2526G>T (p.Gln842His)
c.2472G>T (p.Gln824His)
c.2391G>T (p.Gln797His)
c.2334G>T (p.Gln778His)
c.420G>T (p.Gln140His)
n.2613G>T
c.-506G>T (n.-506G>T)
 gnomAD v4
16g.2114479C>GCA394387546PKD1c.2544G>C (p.Gln848His)
c.472+3010G>C
n.3G>C
c.1475G>C (n.1475G>C)
c.2598G>C (p.Gln866His)
c.2526G>C (p.Gln842His)
c.2472G>C (p.Gln824His)
c.2391G>C (p.Gln797His)
c.2334G>C (p.Gln778His)
c.420G>C (p.Gln140His)
n.2613G>C
c.-506G>C (n.-506G>C)
16g.2114479C>TCA493049687PKD1c.2544G>A (p.Gln848=)
c.472+3010G>A
n.3G>A
c.1475G>A (n.1475G>A)
c.2598G>A (p.Gln866=)
c.2526G>A (p.Gln842=)
c.2472G>A (p.Gln824=)
c.2391G>A (p.Gln797=)
c.2334G>A (p.Gln778=)
c.420G>A (p.Gln140=)
n.2613G>A
c.-506G>A (n.-506G>A)
16g.2114480T>ACA394387549PKD1c.2543A>T (p.Gln848Leu)
c.472+3009A>T
n.2A>T
c.1474A>T (n.1474A>T)
c.2597A>T (p.Gln866Leu)
c.2525A>T (p.Gln842Leu)
c.2471A>T (p.Gln824Leu)
c.2390A>T (p.Gln797Leu)
c.2333A>T (p.Gln778Leu)
c.419A>T (p.Gln140Leu)
n.2612A>T
c.-507A>T (n.-507A>T)
16g.2114480T>CCA394387550PKD1c.2543A>G (p.Gln848Arg)
c.472+3009A>G
n.2A>G
c.1474A>G (n.1474A>G)
c.2597A>G (p.Gln866Arg)
c.2525A>G (p.Gln842Arg)
c.2471A>G (p.Gln824Arg)
c.2390A>G (p.Gln797Arg)
c.2333A>G (p.Gln778Arg)
c.419A>G (p.Gln140Arg)
n.2612A>G
c.-507A>G (n.-507A>G)
 gnomAD v4
16g.2114480T>GCA394387551PKD1c.2543A>C (p.Gln848Pro)
c.472+3009A>C
n.2A>C
c.1474A>C (n.1474A>C)
c.2597A>C (p.Gln866Pro)
c.2525A>C (p.Gln842Pro)
c.2471A>C (p.Gln824Pro)
c.2390A>C (p.Gln797Pro)
c.2333A>C (p.Gln778Pro)
c.419A>C (p.Gln140Pro)
n.2612A>C
c.-507A>C (n.-507A>C)
16g.2114481G>ACA394387553PKD1c.2542C>T (p.Gln848Ter)
c.472+3008C>T
n.1C>T
c.1473C>T (n.1473C>T)
c.2596C>T (p.Gln866Ter)
c.2524C>T (p.Gln842Ter)
c.2470C>T (p.Gln824Ter)
c.2389C>T (p.Gln797Ter)
c.2332C>T (p.Gln778Ter)
c.418C>T (p.Gln140Ter)
n.2611C>T
c.-508C>T (n.-508C>T)
 ClinVar dbSNP
16g.2114481G>CCA394387555PKD1c.2542C>G (p.Gln848Glu)
c.472+3008C>G
n.1C>G
c.1473C>G (n.1473C>G)
c.2596C>G (p.Gln866Glu)
c.2524C>G (p.Gln842Glu)
c.2470C>G (p.Gln824Glu)
c.2389C>G (p.Gln797Glu)
c.2332C>G (p.Gln778Glu)
c.418C>G (p.Gln140Glu)
n.2611C>G
c.-508C>G (n.-508C>G)
16g.2114481G=CA2202049737PKD1c.2542C= (p.Gln848=)
c.472+3008C=
n.1C=
c.1473C= (n.1473C=)
c.2596C= (p.Gln866=)
c.2524C= (p.Gln842=)
c.2470C= (p.Gln824=)
c.2389C= (p.Gln797=)
c.2332C= (p.Gln778=)
c.418C= (p.Gln140=)
n.2611C=
c.-508C= (n.-508C=)
16g.2114481G>TCA394387556PKD1c.2542C>A (p.Gln848Lys)
c.472+3008C>A
n.1C>A
c.1473C>A (n.1473C>A)
c.2596C>A (p.Gln866Lys)
c.2524C>A (p.Gln842Lys)
c.2470C>A (p.Gln824Lys)
c.2389C>A (p.Gln797Lys)
c.2332C>A (p.Gln778Lys)
c.418C>A (p.Gln140Lys)
n.2611C>A
c.-508C>A (n.-508C>A)
16g.2114482G>ACA493049698PKD1c.2541C>T (p.Leu847=)
c.472+3007C>T
c.1472C>T (n.1472C>T)
c.2595C>T (p.Leu865=)
c.2523C>T (p.Leu841=)
c.2469C>T (p.Leu823=)
c.2388C>T (p.Leu796=)
c.2331C>T (p.Leu777=)
c.417C>T (p.Leu139=)
n.2610C>T
c.-509C>T (n.-509C>T)
 gnomAD v4
16g.2114482G>CCA493049700PKD1c.2541C>G (p.Leu847=)
c.472+3007C>G
c.1472C>G (n.1472C>G)
c.2595C>G (p.Leu865=)
c.2523C>G (p.Leu841=)
c.2469C>G (p.Leu823=)
c.2388C>G (p.Leu796=)
c.2331C>G (p.Leu777=)
c.417C>G (p.Leu139=)
n.2610C>G
c.-509C>G (n.-509C>G)
 dbSNP gnomAD v4
16g.2114482G=CA2202049738PKD1c.2541C= (p.Leu847=)
c.472+3007C=
c.1472C= (n.1472C=)
c.2595C= (p.Leu865=)
c.2523C= (p.Leu841=)
c.2469C= (p.Leu823=)
c.2388C= (p.Leu796=)
c.2331C= (p.Leu777=)
c.417C= (p.Leu139=)
n.2610C=
c.-509C= (n.-509C=)
16g.2114482G>TCA493049701PKD1c.2541C>A (p.Leu847=)
c.472+3007C>A
c.1472C>A (n.1472C>A)
c.2595C>A (p.Leu865=)
c.2523C>A (p.Leu841=)
c.2469C>A (p.Leu823=)
c.2388C>A (p.Leu796=)
c.2331C>A (p.Leu777=)
c.417C>A (p.Leu139=)
n.2610C>A
c.-509C>A (n.-509C>A)
16g.2114483A=CA2202049739PKD1c.2540T= (p.Leu847=)
c.472+3006T=
c.1471T= (n.1471T=)
c.2594T= (p.Leu865=)
c.2522T= (p.Leu841=)
c.2468T= (p.Leu823=)
c.2387T= (p.Leu796=)
c.2330T= (p.Leu777=)
c.416T= (p.Leu139=)
n.2609T=
c.-510T= (n.-510T=)
16g.2114483A>CCA394387557PKD1c.2540T>G (p.Leu847Arg)
c.472+3006T>G
c.1471T>G (n.1471T>G)
c.2594T>G (p.Leu865Arg)
c.2522T>G (p.Leu841Arg)
c.2468T>G (p.Leu823Arg)
c.2387T>G (p.Leu796Arg)
c.2330T>G (p.Leu777Arg)
c.416T>G (p.Leu139Arg)
n.2609T>G
c.-510T>G (n.-510T>G)
16g.2114483A>GCA394387559PKD1c.2540T>C (p.Leu847Pro)
c.472+3006T>C
c.1471T>C (n.1471T>C)
c.2594T>C (p.Leu865Pro)
c.2522T>C (p.Leu841Pro)
c.2468T>C (p.Leu823Pro)
c.2387T>C (p.Leu796Pro)
c.2330T>C (p.Leu777Pro)
c.416T>C (p.Leu139Pro)
n.2609T>C
c.-510T>C (n.-510T>C)
 ClinVar dbSNP
16g.2114483A>TCA394387560PKD1c.2540T>A (p.Leu847His)
c.472+3006T>A
c.1471T>A (n.1471T>A)
c.2594T>A (p.Leu865His)
c.2522T>A (p.Leu841His)
c.2468T>A (p.Leu823His)
c.2387T>A (p.Leu796His)
c.2330T>A (p.Leu777His)
c.416T>A (p.Leu139His)
n.2609T>A
c.-510T>A (n.-510T>A)
16g.2114484G>ACA394387562PKD1c.2539C>T (p.Leu847Phe)
c.472+3005C>T
c.1470C>T (n.1470C>T)
c.2593C>T (p.Leu865Phe)
c.2521C>T (p.Leu841Phe)
c.2467C>T (p.Leu823Phe)
c.2386C>T (p.Leu796Phe)
c.2329C>T (p.Leu777Phe)
c.415C>T (p.Leu139Phe)
n.2608C>T
c.-511C>T (n.-511C>T)
 gnomAD v4
16g.2114484G>CCA394387564PKD1c.2539C>G (p.Leu847Val)
c.472+3005C>G
c.1470C>G (n.1470C>G)
c.2593C>G (p.Leu865Val)
c.2521C>G (p.Leu841Val)
c.2467C>G (p.Leu823Val)
c.2386C>G (p.Leu796Val)
c.2329C>G (p.Leu777Val)
c.415C>G (p.Leu139Val)
n.2608C>G
c.-511C>G (n.-511C>G)
 gnomAD v4
16g.2114484G>TCA394387565PKD1c.2539C>A (p.Leu847Ile)
c.472+3005C>A
c.1470C>A (n.1470C>A)
c.2593C>A (p.Leu865Ile)
c.2521C>A (p.Leu841Ile)
c.2467C>A (p.Leu823Ile)
c.2386C>A (p.Leu796Ile)
c.2329C>A (p.Leu777Ile)
c.415C>A (p.Leu139Ile)
n.2608C>A
c.-511C>A (n.-511C>A)
 gnomAD v4
16g.2114485C>ACA493049710PKD1c.2538G>T (p.Val846=)
c.472+3004G>T
c.1469G>T (n.1469G>T)
c.2592G>T (p.Val864=)
c.2520G>T (p.Val840=)
c.2466G>T (p.Val822=)
c.2385G>T (p.Val795=)
c.2328G>T (p.Val776=)
c.414G>T (p.Val138=)
n.2607G>T
c.-512G>T (n.-512G>T)
16g.2114485C>GCA493049711PKD1c.2538G>C (p.Val846=)
c.472+3004G>C
c.1469G>C (n.1469G>C)
c.2592G>C (p.Val864=)
c.2520G>C (p.Val840=)
c.2466G>C (p.Val822=)
c.2385G>C (p.Val795=)
c.2328G>C (p.Val776=)
c.414G>C (p.Val138=)
n.2607G>C
c.-512G>C (n.-512G>C)
16g.2114485C>TCA493049712PKD1c.2538G>A (p.Val846=)
c.472+3004G>A
c.1469G>A (n.1469G>A)
c.2592G>A (p.Val864=)
c.2520G>A (p.Val840=)
c.2466G>A (p.Val822=)
c.2385G>A (p.Val795=)
c.2328G>A (p.Val776=)
c.414G>A (p.Val138=)
n.2607G>A
c.-512G>A (n.-512G>A)
16g.2114486A>CCA394387568PKD1c.2537T>G (p.Val846Gly)
c.472+3003T>G
c.1468T>G (n.1468T>G)
c.2591T>G (p.Val864Gly)
c.2519T>G (p.Val840Gly)
c.2465T>G (p.Val822Gly)
c.2384T>G (p.Val795Gly)
c.2327T>G (p.Val776Gly)
c.413T>G (p.Val138Gly)
n.2606T>G
c.-513T>G (n.-513T>G)
16g.2114486A>GCA394387570PKD1c.2537T>C (p.Val846Ala)
c.472+3003T>C
c.1468T>C (n.1468T>C)
c.2591T>C (p.Val864Ala)
c.2519T>C (p.Val840Ala)
c.2465T>C (p.Val822Ala)
c.2384T>C (p.Val795Ala)
c.2327T>C (p.Val776Ala)
c.413T>C (p.Val138Ala)
n.2606T>C
c.-513T>C (n.-513T>C)
16g.2114486A>TCA394387567PKD1c.2537T>A (p.Val846Glu)
c.472+3003T>A
c.1468T>A (n.1468T>A)
c.2591T>A (p.Val864Glu)
c.2519T>A (p.Val840Glu)
c.2465T>A (p.Val822Glu)
c.2384T>A (p.Val795Glu)
c.2327T>A (p.Val776Glu)
c.413T>A (p.Val138Glu)
n.2606T>A
c.-513T>A (n.-513T>A)
16g.2114487C>ACA394387571PKD1c.2536G>T (p.Val846Leu)
c.472+3002G>T
c.1467G>T (n.1467G>T)
c.2590G>T (p.Val864Leu)
c.2518G>T (p.Val840Leu)
c.2464G>T (p.Val822Leu)
c.2383G>T (p.Val795Leu)
c.2326G>T (p.Val776Leu)
c.412G>T (p.Val138Leu)
n.2605G>T
c.-514G>T (n.-514G>T)
16g.2114487C=CA2202049740PKD1c.2536G= (p.Val846=)
c.472+3002G=
c.1467G= (n.1467G=)
c.2590G= (p.Val864=)
c.2518G= (p.Val840=)
c.2464G= (p.Val822=)
c.2383G= (p.Val795=)
c.2326G= (p.Val776=)
c.412G= (p.Val138=)
n.2605G=
c.-514G= (n.-514G=)
16g.2114487C>GCA394387573PKD1c.2536G>C (p.Val846Leu)
c.472+3002G>C
c.1467G>C (n.1467G>C)
c.2590G>C (p.Val864Leu)
c.2518G>C (p.Val840Leu)
c.2464G>C (p.Val822Leu)
c.2383G>C (p.Val795Leu)
c.2326G>C (p.Val776Leu)
c.412G>C (p.Val138Leu)
n.2605G>C
c.-514G>C (n.-514G>C)
16g.2114487C>TCA7833176PKD1c.2536G>A (p.Val846Met)
c.472+3002G>A
c.1467G>A (n.1467G>A)
c.2590G>A (p.Val864Met)
c.2518G>A (p.Val840Met)
c.2464G>A (p.Val822Met)
c.2383G>A (p.Val795Met)
c.2326G>A (p.Val776Met)
c.412G>A (p.Val138Met)
n.2605G>A
c.-514G>A (n.-514G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114488C>ACA394387574PKD1c.2535G>T (p.Leu845Phe)
c.472+3001G>T
c.1466G>T (n.1466G>T)
c.2589G>T (p.Leu863Phe)
c.2517G>T (p.Leu839Phe)
c.2463G>T (p.Leu821Phe)
c.2382G>T (p.Leu794Phe)
c.2325G>T (p.Leu775Phe)
c.411G>T (p.Leu137Phe)
n.2604G>T
c.-515G>T (n.-515G>T)
16g.2114488C>GCA394387575PKD1c.2535G>C (p.Leu845Phe)
c.472+3001G>C
c.1466G>C (n.1466G>C)
c.2589G>C (p.Leu863Phe)
c.2517G>C (p.Leu839Phe)
c.2463G>C (p.Leu821Phe)
c.2382G>C (p.Leu794Phe)
c.2325G>C (p.Leu775Phe)
c.411G>C (p.Leu137Phe)
n.2604G>C
c.-515G>C (n.-515G>C)
16g.2114488C>TCA493049719PKD1c.2535G>A (p.Leu845=)
c.472+3001G>A
c.1466G>A (n.1466G>A)
c.2589G>A (p.Leu863=)
c.2517G>A (p.Leu839=)
c.2463G>A (p.Leu821=)
c.2382G>A (p.Leu794=)
c.2325G>A (p.Leu775=)
c.411G>A (p.Leu137=)
n.2604G>A
c.-515G>A (n.-515G>A)
16g.2114489A=CA2202049741PKD1c.2534T= (p.Leu845=)
c.472+3000T=
c.1465T= (n.1465T=)
c.2588T= (p.Leu863=)
c.2516T= (p.Leu839=)
c.2462T= (p.Leu821=)
c.2381T= (p.Leu794=)
c.2324T= (p.Leu775=)
c.410T= (p.Leu137=)
n.2603T=
c.-516T= (n.-516T=)
16g.2114489A>CCA394387579PKD1c.2534T>G (p.Leu845Trp)
c.472+3000T>G
c.1465T>G (n.1465T>G)
c.2588T>G (p.Leu863Trp)
c.2516T>G (p.Leu839Trp)
c.2462T>G (p.Leu821Trp)
c.2381T>G (p.Leu794Trp)
c.2324T>G (p.Leu775Trp)
c.410T>G (p.Leu137Trp)
n.2603T>G
c.-516T>G (n.-516T>G)
16g.2114489A>GCA119381PKD1c.2534T>C (p.Leu845Ser)
c.472+3000T>C
c.1465T>C (n.1465T>C)
c.2588T>C (p.Leu863Ser)
c.2516T>C (p.Leu839Ser)
c.2462T>C (p.Leu821Ser)
c.2381T>C (p.Leu794Ser)
c.2324T>C (p.Leu775Ser)
c.410T>C (p.Leu137Ser)
n.2603T>C
c.-516T>C (n.-516T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2114489A>TCA394387577PKD1c.2534T>A (p.Leu845Ter)
c.472+3000T>A
c.1465T>A (n.1465T>A)
c.2588T>A (p.Leu863Ter)
c.2516T>A (p.Leu839Ter)
c.2462T>A (p.Leu821Ter)
c.2381T>A (p.Leu794Ter)
c.2324T>A (p.Leu775Ter)
c.410T>A (p.Leu137Ter)
n.2603T>A
c.-516T>A (n.-516T>A)
 ClinVar dbSNP

Number of alleles fetched